#Uploaded_variation Location Allele Consequence IMPACT SYMBOL Gene Feature_type Feature BIOTYPE EXON INTRON HGVSc HGVSp cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation DISTANCE STRAND FLAGS SYMBOL_SOURCE HGNC_ID MANE_SELECT MANE_PLUS_CLINICAL TSL APPRIS REFSEQ_MATCH SOURCE REFSEQ_OFFSET GIVEN_REF USED_REF BAM_EDIT SIFT PolyPhen AF CLIN_SIG SOMATIC PHENO PUBMED MOTIF_NAME MOTIF_POS HIGH_INF_POS MOTIF_SCORE_CHANGE TRANSCRIPTION_FACTORS . 10:47221-47221 A downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs1477234900,COSV59115144 337 1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47221-47221 A 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 1249 - - - - rs1477234900,COSV59115144 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47221-47221 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding - - - - - - - - - rs1477234900,COSV59115144 273 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47221-47221 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs1477234900,COSV59115144 484 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47221-47221 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 2109 1069 357 R/C Cgc/Tgc rs1477234900,COSV59115144 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - deleterious_low_confidence(0.02) - - - 0,1 0,1 - - - - - - . 10:47221-47221 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay - - - - - - - - - rs1477234900,COSV59115144 357 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47221-47221 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 1229 1171 391 R/C Cgc/Tgc rs1477234900,COSV59115144 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - G G - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47221-47221 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 1099 1060 354 R/C Cgc/Tgc rs1477234900,COSV59115144 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) benign(0.349) - - 0,1 0,1 - - - - - - . 10:47221-47221 A missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1797 955 319 R/C Cgc/Tgc rs1477234900,COSV59115144 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47221-47221 A missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 2202 955 319 R/C Cgc/Tgc rs1477234900,COSV59115144 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47221-47221 A missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 1229 1171 391 R/C Cgc/Tgc rs1477234900,COSV59115144 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - G G - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47221-47221 A missense_variant MODERATE TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 928 835 279 R/C Cgc/Tgc rs1477234900,COSV59115144 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47221-47221 A missense_variant MODERATE TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 1037 1018 340 R/C Cgc/Tgc rs1477234900,COSV59115144 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47221-47221 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs1477234900,COSV59115144 2376 1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47221-47221 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs1477234900,COSV59115144 3516 1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47298-47298 A downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs200765980 414 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:47298-47298 A 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 1172 - - - - rs200765980 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:47298-47298 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding - - - - - - - - - rs200765980 196 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:47298-47298 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs200765980 407 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:47298-47298 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 2032 992 331 A/V gCc/gTc rs200765980 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - tolerated_low_confidence(0.1) - - - - - - - - - - - . 10:47298-47298 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay - - - - - - - - - rs200765980 280 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:47298-47298 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 1152 1094 365 A/V gCc/gTc rs200765980 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - G G - tolerated_low_confidence(0.08) - - - - - - - - - - - . 10:47298-47298 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 1022 983 328 A/V gCc/gTc rs200765980 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - tolerated_low_confidence(0.11) probably_damaging(0.983) - - - - - - - - - - . 10:47298-47298 A missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1720 878 293 A/V gCc/gTc rs200765980 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - deleterious_low_confidence(0.04) - - - - - - - - - - - . 10:47298-47298 A missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 2125 878 293 A/V gCc/gTc rs200765980 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - deleterious_low_confidence(0.04) - - - - - - - - - - - . 10:47298-47298 A missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 1152 1094 365 A/V gCc/gTc rs200765980 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - G G - tolerated_low_confidence(0.08) - - - - - - - - - - - . 10:47298-47298 A missense_variant MODERATE TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 851 758 253 A/V gCc/gTc rs200765980 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47298-47298 A missense_variant MODERATE TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 960 941 314 A/V gCc/gTc rs200765980 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47298-47298 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs200765980 2453 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47298-47298 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs200765980 3593 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47353-47353 C downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs4881159 469 1 - - - - - - - - Ensembl - T T - - - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 1117 - - - - rs4881159 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding - - - - - - - - - rs4881159 141 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs4881159 352 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1977 937 313 N/D Aac/Gac rs4881159 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay - - - - - - - - - rs4881159 225 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 1097 1039 347 N/D Aac/Gac rs4881159 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - T T - deleterious_low_confidence(0) - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 967 928 310 N/D Aac/Gac rs4881159 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) benign(0) - uncertain_significance - 1 - - - - - - . 10:47353-47353 C missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1665 823 275 N/D Aac/Gac rs4881159 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - deleterious_low_confidence(0) - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 2070 823 275 N/D Aac/Gac rs4881159 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - deleterious_low_confidence(0) - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 1097 1039 347 N/D Aac/Gac rs4881159 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - T T - deleterious_low_confidence(0) - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C missense_variant MODERATE TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 796 703 235 N/D Aac/Gac rs4881159 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - - - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C missense_variant MODERATE TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 905 886 296 N/D Aac/Gac rs4881159 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - - - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs4881159 2508 1 - EntrezGene - - - - - - RefSeq - T T - - - - uncertain_significance - 1 - - - - - - . 10:47353-47353 C downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs4881159 3648 1 - EntrezGene - - - - - - RefSeq - T T - - - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs4880608 475 1 - - - - - - - - Ensembl - G G - - - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 1111 - - - - rs4880608 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding - - - - - - - - - rs4880608 135 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs4880608 346 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1971 931 311 L/F Ctc/Ttc rs4880608 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay - - - - - - - - - rs4880608 219 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 1091 1033 345 L/F Ctc/Ttc rs4880608 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - G G - deleterious_low_confidence(0) - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 961 922 308 L/F Ctc/Ttc rs4880608 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) benign(0.005) - uncertain_significance - 1 - - - - - - . 10:47359-47359 A missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1659 817 273 L/F Ctc/Ttc rs4880608 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - deleterious_low_confidence(0) - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 2064 817 273 L/F Ctc/Ttc rs4880608 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - deleterious_low_confidence(0) - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 1091 1033 345 L/F Ctc/Ttc rs4880608 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - G G - deleterious_low_confidence(0) - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A missense_variant MODERATE TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 790 697 233 L/F Ctc/Ttc rs4880608 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A missense_variant MODERATE TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 899 880 294 L/F Ctc/Ttc rs4880608 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs4880608 2514 1 - EntrezGene - - - - - - RefSeq - G G - - - - uncertain_significance - 1 - - - - - - . 10:47359-47359 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs4880608 3654 1 - EntrezGene - - - - - - RefSeq - G G - - - - uncertain_significance - 1 - - - - - - . 10:47375-47375 G downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs4029642,COSV59116780 491 1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 1095 - - - - rs4029642,COSV59116780 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding - - - - - - - - - rs4029642,COSV59116780 119 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs4029642,COSV59116780 330 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1955 915 305 S agT/agC rs4029642,COSV59116780 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay - - - - - - - - - rs4029642,COSV59116780 203 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 1075 1017 339 S agT/agC rs4029642,COSV59116780 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 945 906 302 S agT/agC rs4029642,COSV59116780 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1643 801 267 S agT/agC rs4029642,COSV59116780 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 2048 801 267 S agT/agC rs4029642,COSV59116780 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 1075 1017 339 S agT/agC rs4029642,COSV59116780 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G synonymous_variant LOW TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 774 681 227 S agT/agC rs4029642,COSV59116780 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G synonymous_variant LOW TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 883 864 288 S agT/agC rs4029642,COSV59116780 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs4029642,COSV59116780 2530 1 - EntrezGene - - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47375-47375 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs4029642,COSV59116780 3670 1 - EntrezGene - - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs1230768144,COSV59116065 521 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 1065 - - - - rs1230768144,COSV59116065 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding - - - - - - - - - rs1230768144,COSV59116065 89 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs1230768144,COSV59116065 300 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1925 885 295 Q caA/caG rs1230768144,COSV59116065 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay - - - - - - - - - rs1230768144,COSV59116065 173 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 1045 987 329 Q caA/caG rs1230768144,COSV59116065 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 915 876 292 Q caA/caG rs1230768144,COSV59116065 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1613 771 257 Q caA/caG rs1230768144,COSV59116065 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 2018 771 257 Q caA/caG rs1230768144,COSV59116065 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 1045 987 329 Q caA/caG rs1230768144,COSV59116065 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C synonymous_variant LOW TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 744 651 217 Q caA/caG rs1230768144,COSV59116065 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C synonymous_variant LOW TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 853 834 278 Q caA/caG rs1230768144,COSV59116065 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs1230768144,COSV59116065 2560 1 - EntrezGene - - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:47405-47405 C downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs1230768144,COSV59116065 3700 1 - EntrezGene - - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:47454-47454 A downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs199826048,COSV59115704 570 1 - - - - - - - - Ensembl - G G - - - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 1016 - - - - rs199826048,COSV59115704 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding - - - - - - - - - rs199826048,COSV59115704 40 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs199826048,COSV59115704 251 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1876 836 279 A/V gCg/gTg rs199826048,COSV59115704 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - tolerated_low_confidence(1) - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay - - - - - - - - - rs199826048,COSV59115704 124 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 996 938 313 A/V gCg/gTg rs199826048,COSV59115704 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - G G - tolerated_low_confidence(1) - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 866 827 276 A/V gCg/gTg rs199826048,COSV59115704 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - tolerated_low_confidence(1) benign(0) - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1564 722 241 A/V gCg/gTg rs199826048,COSV59115704 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - tolerated_low_confidence(1) - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1969 722 241 A/V gCg/gTg rs199826048,COSV59115704 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - tolerated_low_confidence(1) - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 996 938 313 A/V gCg/gTg rs199826048,COSV59115704 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - G G - tolerated_low_confidence(1) - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A missense_variant MODERATE TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 695 602 201 A/V gCg/gTg rs199826048,COSV59115704 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A missense_variant MODERATE TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 804 785 262 A/V gCg/gTg rs199826048,COSV59115704 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs199826048,COSV59115704 2609 1 - EntrezGene - - - - - - RefSeq - G G - - - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47454-47454 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs199826048,COSV59115704 3749 1 - EntrezGene - - - - - - RefSeq - G G - - - - uncertain_significance,likely_pathogenic 0,1 1,1 - - - - - - . 10:47467-47467 A downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs782628556 583 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:47467-47467 A 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 1003 - - - - rs782628556 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:47467-47467 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding - - - - - - - - - rs782628556 27 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:47467-47467 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs782628556 238 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:47467-47467 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1863 823 275 R/C Cgc/Tgc rs782628556 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) - - - - - - - - - - - . 10:47467-47467 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay - - - - - - - - - rs782628556 111 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:47467-47467 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 983 925 309 R/C Cgc/Tgc rs782628556 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - G G - deleterious_low_confidence(0) - - - - - - - - - - - . 10:47467-47467 A missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 853 814 272 R/C Cgc/Tgc rs782628556 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.993) - - - - - - - - - - . 10:47467-47467 A missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1551 709 237 R/C Cgc/Tgc rs782628556 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - deleterious_low_confidence(0) - - - - - - - - - - - . 10:47467-47467 A missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1956 709 237 R/C Cgc/Tgc rs782628556 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - deleterious_low_confidence(0) - - - - - - - - - - - . 10:47467-47467 A missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 983 925 309 R/C Cgc/Tgc rs782628556 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - G G - deleterious_low_confidence(0) - - - - - - - - - - - . 10:47467-47467 A missense_variant MODERATE TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 682 589 197 R/C Cgc/Tgc rs782628556 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47467-47467 A missense_variant MODERATE TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 791 772 258 R/C Cgc/Tgc rs782628556 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47467-47467 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs782628556 2622 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47467-47467 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs782628556 3762 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47471-47471 A downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs782232265,COSV59117367 587 1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 999 - - - - rs782232265,COSV59117367 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding - - - - - - - - - rs782232265,COSV59117367 23 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs782232265,COSV59117367 234 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1859 819 273 H caC/caT rs782232265,COSV59117367 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay - - - - - - - - - rs782232265,COSV59117367 107 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 979 921 307 H caC/caT rs782232265,COSV59117367 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 849 810 270 H caC/caT rs782232265,COSV59117367 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1547 705 235 H caC/caT rs782232265,COSV59117367 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1952 705 235 H caC/caT rs782232265,COSV59117367 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 979 921 307 H caC/caT rs782232265,COSV59117367 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A synonymous_variant LOW TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 678 585 195 H caC/caT rs782232265,COSV59117367 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A synonymous_variant LOW TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 787 768 256 H caC/caT rs782232265,COSV59117367 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs782232265,COSV59117367 2626 1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47471-47471 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs782232265,COSV59117367 3766 1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47485-47485 G downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs41304577,COSV59114675 601 1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47485-47485 G 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 985 - - - - rs41304577,COSV59114675 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47485-47485 G downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding - - - - - - - - - rs41304577,COSV59114675 9 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47485-47485 G downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs41304577,COSV59114675 220 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47485-47485 G missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1845 805 269 C/R Tgt/Cgt rs41304577,COSV59114675 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47485-47485 G downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay - - - - - - - - - rs41304577,COSV59114675 93 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47485-47485 G missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 965 907 303 C/R Tgt/Cgt rs41304577,COSV59114675 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - A A - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47485-47485 G missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 835 796 266 C/R Tgt/Cgt rs41304577,COSV59114675 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - deleterious_low_confidence(0) benign(0.003) - - 0,1 0,1 - - - - - - . 10:47485-47485 G missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1533 691 231 C/R Tgt/Cgt rs41304577,COSV59114675 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47485-47485 G missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1938 691 231 C/R Tgt/Cgt rs41304577,COSV59114675 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47485-47485 G missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 965 907 303 C/R Tgt/Cgt rs41304577,COSV59114675 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - A A - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47485-47485 G missense_variant MODERATE TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 664 571 191 C/R Tgt/Cgt rs41304577,COSV59114675 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47485-47485 G missense_variant MODERATE TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 773 754 252 C/R Tgt/Cgt rs41304577,COSV59114675 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47485-47485 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs41304577,COSV59114675 2640 1 - EntrezGene - - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47485-47485 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs41304577,COSV59114675 3780 1 - EntrezGene - - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs781796307,COSV59115993 641 1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 945 - - - - rs781796307,COSV59115993 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 789 - - - - rs781796307,COSV59115993 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs781796307,COSV59115993 180 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1805 765 255 L ctT/ctC rs781796307,COSV59115993 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay - - - - - - - - - rs781796307,COSV59115993 53 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 925 867 289 L ctT/ctC rs781796307,COSV59115993 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 795 756 252 L ctT/ctC rs781796307,COSV59115993 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1493 651 217 L ctT/ctC rs781796307,COSV59115993 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1898 651 217 L ctT/ctC rs781796307,COSV59115993 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 925 867 289 L ctT/ctC rs781796307,COSV59115993 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G synonymous_variant LOW TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 624 531 177 L ctT/ctC rs781796307,COSV59115993 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G synonymous_variant LOW TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 733 714 238 L ctT/ctC rs781796307,COSV59115993 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs781796307,COSV59115993 2680 1 - EntrezGene - - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47525-47525 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs781796307,COSV59115993 3820 1 - EntrezGene - - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47565-47565 T downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs147114528,COSV59114582 681 1 - - - - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47565-47565 T 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 905 - - - - rs147114528,COSV59114582 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47565-47565 T 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 749 - - - - rs147114528,COSV59114582 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47565-47565 T downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs147114528,COSV59114582 140 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47565-47565 T missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1765 725 242 R/Q cGg/cAg rs147114528,COSV59114582 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - deleterious_low_confidence(0.04) - - - 0,1 0,1 - - - - - - . 10:47565-47565 T downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay - - - - - - - - - rs147114528,COSV59114582 13 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47565-47565 T missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 885 827 276 R/Q cGg/cAg rs147114528,COSV59114582 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - C C - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47565-47565 T missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 755 716 239 R/Q cGg/cAg rs147114528,COSV59114582 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - deleterious_low_confidence(0) benign(0.009) - - 0,1 0,1 - - - - - - . 10:47565-47565 T missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1453 611 204 R/Q cGg/cAg rs147114528,COSV59114582 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47565-47565 T missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1858 611 204 R/Q cGg/cAg rs147114528,COSV59114582 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47565-47565 T missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 885 827 276 R/Q cGg/cAg rs147114528,COSV59114582 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - C C - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:47565-47565 T missense_variant MODERATE TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 584 491 164 R/Q cGg/cAg rs147114528,COSV59114582 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47565-47565 T missense_variant MODERATE TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 693 674 225 R/Q cGg/cAg rs147114528,COSV59114582 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47565-47565 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs147114528,COSV59114582 2720 1 - EntrezGene - - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47565-47565 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs147114528,COSV59114582 3860 1 - EntrezGene - - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47651-47651 G downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs782758896 767 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:47651-47651 G 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 819 - - - - rs782758896 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:47651-47651 G 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 663 - - - - rs782758896 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:47651-47651 G downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs782758896 54 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:47651-47651 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1679 639 213 N aaT/aaC rs782758896 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:47651-47651 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 988 - - - - rs782758896 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:47651-47651 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 799 741 247 N aaT/aaC rs782758896 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:47651-47651 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 669 630 210 N aaT/aaC rs782758896 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:47651-47651 G synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1367 525 175 N aaT/aaC rs782758896 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:47651-47651 G synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1772 525 175 N aaT/aaC rs782758896 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:47651-47651 G synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 799 741 247 N aaT/aaC rs782758896 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:47651-47651 G synonymous_variant LOW TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 498 405 135 N aaT/aaC rs782758896 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:47651-47651 G synonymous_variant LOW TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 607 588 196 N aaT/aaC rs782758896 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:47651-47651 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs782758896 2806 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:47651-47651 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs782758896 3946 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:47663-47663 T downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs6560827,COSV59115081 779 1 - - - - - - - - Ensembl - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 807 - - - - rs6560827,COSV59115081 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 651 - - - - rs6560827,COSV59115081 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T downstream_gene_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron - - - - - - - - - rs6560827,COSV59115081 42 -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1667 627 209 P ccG/ccA rs6560827,COSV59115081 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 976 - - - - rs6560827,COSV59115081 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 787 729 243 P ccG/ccA rs6560827,COSV59115081 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 657 618 206 P ccG/ccA rs6560827,COSV59115081 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1355 513 171 P ccG/ccA rs6560827,COSV59115081 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1760 513 171 P ccG/ccA rs6560827,COSV59115081 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 787 729 243 P ccG/ccA rs6560827,COSV59115081 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T synonymous_variant LOW TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 486 393 131 P ccG/ccA rs6560827,COSV59115081 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T synonymous_variant LOW TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 595 576 192 P ccG/ccA rs6560827,COSV59115081 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs6560827,COSV59115081 2818 1 - EntrezGene - - - - - - RefSeq - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47663-47663 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs6560827,COSV59115081 3958 1 - EntrezGene - - - - - - RefSeq - C C - - - 0.6701 benign 0,1 1,1 - - - - - - . 10:47754-47754 C downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs144539776,COSV59114694 870 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47754-47754 C 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 716 - - - - rs144539776,COSV59114694 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47754-47754 C 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 560 - - - - rs144539776,COSV59114694 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47754-47754 C non_coding_transcript_exon_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron 3/3 - - - 747 - - - - rs144539776,COSV59114694 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47754-47754 C missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1576 536 179 K/R aAg/aGg rs144539776,COSV59114694 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - tolerated_low_confidence(1) - - - 0,1 0,1 - - - - - - . 10:47754-47754 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 885 - - - - rs144539776,COSV59114694 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:47754-47754 C missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 696 638 213 K/R aAg/aGg rs144539776,COSV59114694 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - T T - tolerated_low_confidence(1) - - - 0,1 0,1 - - - - - - . 10:47754-47754 C missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 566 527 176 K/R aAg/aGg rs144539776,COSV59114694 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:47754-47754 C missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1264 422 141 K/R aAg/aGg rs144539776,COSV59114694 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - tolerated_low_confidence(1) - - - 0,1 0,1 - - - - - - . 10:47754-47754 C missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1669 422 141 K/R aAg/aGg rs144539776,COSV59114694 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - tolerated_low_confidence(1) - - - 0,1 0,1 - - - - - - . 10:47754-47754 C missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 696 638 213 K/R aAg/aGg rs144539776,COSV59114694 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - T T - tolerated_low_confidence(1) - - - 0,1 0,1 - - - - - - . 10:47754-47754 C missense_variant MODERATE TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 395 302 101 K/R aAg/aGg rs144539776,COSV59114694 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:47754-47754 C missense_variant MODERATE TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 504 485 162 K/R aAg/aGg rs144539776,COSV59114694 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:47754-47754 C downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs144539776,COSV59114694 2909 1 - EntrezGene - - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:47754-47754 C downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs144539776,COSV59114694 4049 1 - EntrezGene - - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs41305669,COSV59114721 887 1 - - - - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 699 - - - - rs41305669,COSV59114721 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 543 - - - - rs41305669,COSV59114721 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T non_coding_transcript_exon_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron 3/3 - - - 730 - - - - rs41305669,COSV59114721 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1559 519 173 L ctG/ctA rs41305669,COSV59114721 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 868 - - - - rs41305669,COSV59114721 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 679 621 207 L ctG/ctA rs41305669,COSV59114721 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 549 510 170 L ctG/ctA rs41305669,COSV59114721 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1247 405 135 L ctG/ctA rs41305669,COSV59114721 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1652 405 135 L ctG/ctA rs41305669,COSV59114721 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 679 621 207 L ctG/ctA rs41305669,COSV59114721 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T synonymous_variant LOW TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 378 285 95 L ctG/ctA rs41305669,COSV59114721 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T synonymous_variant LOW TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 487 468 156 L ctG/ctA rs41305669,COSV59114721 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs41305669,COSV59114721 2926 1 - EntrezGene - - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47771-47771 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs41305669,COSV59114721 4066 1 - EntrezGene - - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs41288743,COSV59114489 890 1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 696 - - - - rs41288743,COSV59114489 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 540 - - - - rs41288743,COSV59114489 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C non_coding_transcript_exon_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron 3/3 - - - 727 - - - - rs41288743,COSV59114489 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1556 516 172 A gcT/gcG rs41288743,COSV59114489 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 865 - - - - rs41288743,COSV59114489 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 676 618 206 A gcT/gcG rs41288743,COSV59114489 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 546 507 169 A gcT/gcG rs41288743,COSV59114489 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1244 402 134 A gcT/gcG rs41288743,COSV59114489 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1649 402 134 A gcT/gcG rs41288743,COSV59114489 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 676 618 206 A gcT/gcG rs41288743,COSV59114489 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C synonymous_variant LOW TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 375 282 94 A gcT/gcG rs41288743,COSV59114489 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C synonymous_variant LOW TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 484 465 155 A gcT/gcG rs41288743,COSV59114489 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs41288743,COSV59114489 2929 1 - EntrezGene - - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47774-47774 C downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs41288743,COSV59114489 4069 1 - EntrezGene - - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:47792-47792 G downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs148025238,COSV59116339 908 1 - - - - - - - - Ensembl - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 678 - - - - rs148025238,COSV59116339 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 522 - - - - rs148025238,COSV59116339 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G non_coding_transcript_exon_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron 3/3 - - - 709 - - - - rs148025238,COSV59116339 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1538 498 166 F ttT/ttC rs148025238,COSV59116339 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 847 - - - - rs148025238,COSV59116339 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 658 600 200 F ttT/ttC rs148025238,COSV59116339 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 528 489 163 F ttT/ttC rs148025238,COSV59116339 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1226 384 128 F ttT/ttC rs148025238,COSV59116339 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1631 384 128 F ttT/ttC rs148025238,COSV59116339 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 658 600 200 F ttT/ttC rs148025238,COSV59116339 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G synonymous_variant LOW TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 357 264 88 F ttT/ttC rs148025238,COSV59116339 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G synonymous_variant LOW TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 466 447 149 F ttT/ttC rs148025238,COSV59116339 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs148025238,COSV59116339 2947 1 - EntrezGene - - - - - - RefSeq - A A - - - - - 0,1 1,1 - - - - - - . 10:47792-47792 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs148025238,COSV59116339 4087 1 - EntrezGene - - - - - - RefSeq - A A - - - - - 0,1 1,1 - - - - - - . 10:47864-47864 T downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs9329304,COSV59116658 980 1 - - - - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 606 - - - - rs9329304,COSV59116658 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 450 - - - - rs9329304,COSV59116658 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T non_coding_transcript_exon_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron 3/3 - - - 637 - - - - rs9329304,COSV59116658 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1466 426 142 S tcG/tcA rs9329304,COSV59116658 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 775 - - - - rs9329304,COSV59116658 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 586 528 176 S tcG/tcA rs9329304,COSV59116658 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 456 417 139 S tcG/tcA rs9329304,COSV59116658 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1154 312 104 S tcG/tcA rs9329304,COSV59116658 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1559 312 104 S tcG/tcA rs9329304,COSV59116658 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 586 528 176 S tcG/tcA rs9329304,COSV59116658 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T synonymous_variant LOW TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 285 192 64 S tcG/tcA rs9329304,COSV59116658 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T synonymous_variant LOW TUBB8 347688 Transcript XM_047425177.1 protein_coding 4/4 - - - 394 375 125 S tcG/tcA rs9329304,COSV59116658 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs9329304,COSV59116658 3019 1 - EntrezGene - - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47864-47864 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs9329304,COSV59116658 4159 1 - EntrezGene - - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs782165651,COSV59114972 1052 1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 534 - - - - rs782165651,COSV59114972 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 378 - - - - rs782165651,COSV59114972 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A non_coding_transcript_exon_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron 3/3 - - - 565 - - - - rs782165651,COSV59114972 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1394 354 118 L ctC/ctT rs782165651,COSV59114972 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 703 - - - - rs782165651,COSV59114972 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 514 456 152 L ctC/ctT rs782165651,COSV59114972 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 384 345 115 L ctC/ctT rs782165651,COSV59114972 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1082 240 80 L ctC/ctT rs782165651,COSV59114972 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1487 240 80 L ctC/ctT rs782165651,COSV59114972 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 514 456 152 L ctC/ctT rs782165651,COSV59114972 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A synonymous_variant LOW TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 213 120 40 L ctC/ctT rs782165651,COSV59114972 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A intron_variant MODIFIER TUBB8 347688 Transcript XM_047425177.1 protein_coding - 3/3 - - - - - - - rs782165651,COSV59114972 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs782165651,COSV59114972 3091 1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47936-47936 A downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs782165651,COSV59114972 4231 1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:47938-47938 T downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs782796368 1054 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:47938-47938 T 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 532 - - - - rs782796368 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:47938-47938 T 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 376 - - - - rs782796368 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:47938-47938 T non_coding_transcript_exon_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron 3/3 - - - 563 - - - - rs782796368 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:47938-47938 T missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1392 352 118 L/I Ctc/Atc rs782796368 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - tolerated_low_confidence(1) - - - - - - - - - - - . 10:47938-47938 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 701 - - - - rs782796368 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:47938-47938 T missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 512 454 152 L/I Ctc/Atc rs782796368 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - G G - tolerated_low_confidence(1) - - - - - - - - - - - . 10:47938-47938 T missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 382 343 115 L/I Ctc/Atc rs782796368 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - tolerated_low_confidence(1) benign(0.003) - - - - - - - - - - . 10:47938-47938 T missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1080 238 80 L/I Ctc/Atc rs782796368 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - tolerated_low_confidence(1) - - - - - - - - - - - . 10:47938-47938 T missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1485 238 80 L/I Ctc/Atc rs782796368 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - tolerated_low_confidence(1) - - - - - - - - - - - . 10:47938-47938 T missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 512 454 152 L/I Ctc/Atc rs782796368 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - G G - tolerated_low_confidence(1) - - - - - - - - - - - . 10:47938-47938 T missense_variant MODERATE TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 211 118 40 L/I Ctc/Atc rs782796368 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47938-47938 T intron_variant MODIFIER TUBB8 347688 Transcript XM_047425177.1 protein_coding - 3/3 - - - - - - - rs782796368 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47938-47938 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs782796368 3093 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47938-47938 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs782796368 4233 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47939-47939 G downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs782443786 1055 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:47939-47939 G 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 531 - - - - rs782443786 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47939-47939 G 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 375 - - - - rs782443786 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47939-47939 G non_coding_transcript_exon_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron 3/3 - - - 562 - - - - rs782443786 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47939-47939 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1391 351 117 L ctG/ctC rs782443786 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47939-47939 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 700 - - - - rs782443786 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47939-47939 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 511 453 151 L ctG/ctC rs782443786 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:47939-47939 G synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 381 342 114 L ctG/ctC rs782443786 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47939-47939 G synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 1079 237 79 L ctG/ctC rs782443786 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47939-47939 G synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1484 237 79 L ctG/ctC rs782443786 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47939-47939 G synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 511 453 151 L ctG/ctC rs782443786 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47939-47939 G synonymous_variant LOW TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 210 117 39 L ctG/ctC rs782443786 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47939-47939 G intron_variant MODIFIER TUBB8 347688 Transcript XM_047425177.1 protein_coding - 3/3 - - - - - - - rs782443786 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47939-47939 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs782443786 3094 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47939-47939 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs782443786 4234 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:48054-48054 G downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs61839058,COSV59114659 1170 1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:48054-48054 G 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 416 - - - - rs61839058,COSV59114659 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:48054-48054 G 3_prime_UTR_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 260 - - - - rs61839058,COSV59114659 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:48054-48054 G non_coding_transcript_exon_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron 3/3 - - - 447 - - - - rs61839058,COSV59114659 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:48054-48054 G missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1276 236 79 M/T aTg/aCg rs61839058,COSV59114659 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:48054-48054 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 585 - - - - rs61839058,COSV59114659 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:48054-48054 G missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 396 338 113 M/T aTg/aCg rs61839058,COSV59114659 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - A A - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:48054-48054 G missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 266 227 76 M/T aTg/aCg rs61839058,COSV59114659 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - A A - deleterious_low_confidence(0) possibly_damaging(0.548) - - 0,1 0,1 - - - - - - . 10:48054-48054 G missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 964 122 41 M/T aTg/aCg rs61839058,COSV59114659 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:48054-48054 G missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1369 122 41 M/T aTg/aCg rs61839058,COSV59114659 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:48054-48054 G missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 396 338 113 M/T aTg/aCg rs61839058,COSV59114659 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - A A - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:48054-48054 G start_lost HIGH TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 95 2 1 M/T aTg/aCg rs61839058,COSV59114659 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:48054-48054 G intron_variant MODIFIER TUBB8 347688 Transcript XM_047425177.1 protein_coding - 3/3 - - - - - - - rs61839058,COSV59114659 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:48054-48054 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs61839058,COSV59114659 3209 1 - EntrezGene - - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:48054-48054 G downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs61839058,COSV59114659 4349 1 - EntrezGene - - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs782307404,COSV59115244 1187 1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 399 344 115 P/Q cCg/cAg rs782307404,COSV59115244 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - tolerated_low_confidence(1) unknown(0) - - 0,1 0,1 - - - - - - . 10:48071-48071 T missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 243 212 71 P/Q cCg/cAg rs782307404,COSV59115244 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - tolerated(0.65) benign(0) - - 0,1 0,1 - - - - - - . 10:48071-48071 T non_coding_transcript_exon_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron 3/3 - - - 430 - - - - rs782307404,COSV59115244 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1259 219 73 T acC/acA rs782307404,COSV59115244 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 568 - - - - rs782307404,COSV59115244 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 379 321 107 T acC/acA rs782307404,COSV59115244 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T synonymous_variant LOW TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 249 210 70 T acC/acA rs782307404,COSV59115244 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T synonymous_variant LOW TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 947 105 35 T acC/acA rs782307404,COSV59115244 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T synonymous_variant LOW TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1352 105 35 T acC/acA rs782307404,COSV59115244 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T synonymous_variant LOW TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 379 321 107 T acC/acA rs782307404,COSV59115244 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T 5_prime_UTR_variant MODIFIER TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 78 - - - - rs782307404,COSV59115244 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T intron_variant MODIFIER TUBB8 347688 Transcript XM_047425177.1 protein_coding - 3/3 - - - - - - - rs782307404,COSV59115244 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs782307404,COSV59115244 3226 1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:48071-48071 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs782307404,COSV59115244 4366 1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:48078-48078 C downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs9329307,COSV59114495 1194 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 4/4 - - - 392 337 113 T/A Act/Gct rs9329307,COSV59114495 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - deleterious_low_confidence(0.01) unknown(0) - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 3/3 - - - 236 205 69 T/A Act/Gct rs9329307,COSV59114495 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - deleterious(0.01) benign(0.398) - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C non_coding_transcript_exon_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron 3/3 - - - 423 - - - - rs9329307,COSV59114495 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding 4/4 - - - 1252 212 71 H/R cAc/cGc rs9329307,COSV59114495 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) - - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 4/4 - - - 561 - - - - rs9329307,COSV59114495 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 4/4 - - - 372 314 105 H/R cAc/cGc rs9329307,COSV59114495 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - T T - deleterious_low_confidence(0) - - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding 3/3 - - - 242 203 68 H/R cAc/cGc rs9329307,COSV59114495 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) benign(0) - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 5/5 - - - 940 98 33 H/R cAc/cGc rs9329307,COSV59114495 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - deleterious_low_confidence(0) - - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 5/5 - - - 1345 98 33 H/R cAc/cGc rs9329307,COSV59114495 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - deleterious_low_confidence(0) - - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 4/4 - - - 372 314 105 H/R cAc/cGc rs9329307,COSV59114495 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - T T - deleterious_low_confidence(0) - - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C 5_prime_UTR_variant MODIFIER TUBB8 347688 Transcript XM_017016193.3 protein_coding 2/2 - - - 71 - - - - rs9329307,COSV59114495 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - - - - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C intron_variant MODIFIER TUBB8 347688 Transcript XM_047425177.1 protein_coding - 3/3 - - - - - - - rs9329307,COSV59114495 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - T T - - - - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs9329307,COSV59114495 3233 1 - EntrezGene - - - - - - RefSeq - T T - - - - - 0,1 0,1 28979898 - - - - - . 10:48078-48078 C downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs9329307,COSV59114495 4373 1 - EntrezGene - - - - - - RefSeq - T T - - - - - 0,1 0,1 28979898 - - - - - . 10:48662-48662 T downstream_gene_variant MODIFIER - ENSG00000237297 Transcript ENST00000416477.1 unprocessed_pseudogene - - - - - - - - - rs781874733,COSV59116918 1778 1 - - - - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:48662-48662 T missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000561967.1 protein_coding 3/4 - - - 285 230 77 R/H cGc/cAc rs781874733,COSV59116918 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - tolerated_low_confidence(0.06) probably_damaging(0.996) - - 0,1 0,1 - - - - - - . 10:48662-48662 T missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000562809.1 protein_coding 2/3 - - - 152 121 41 A/T Gct/Act rs781874733,COSV59116918 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - tolerated(0.08) benign(0) - - 0,1 0,1 - - - - - - . 10:48662-48662 T non_coding_transcript_exon_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000563456.1 retained_intron 2/3 - - - 339 - - - - rs781874733,COSV59116918 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:48662-48662 T intron_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000564130.2 protein_coding - 3/3 - - - - - - - rs781874733,COSV59116918 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:48662-48662 T missense_variant,NMD_transcript_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000567466.1 nonsense_mediated_decay 3/4 - - - 287 154 52 A/T Gct/Act rs781874733,COSV59116918 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - tolerated(0.1) unknown(0) - - 0,1 0,1 - - - - - - . 10:48662-48662 T missense_variant MODERATE TUBB8 ENSG00000261456 Transcript ENST00000568584.6 protein_coding 3/4 - - - 288 230 77 R/H cGc/cAc rs781874733,COSV59116918 - -1 - HGNC HGNC:20773 NM_177987.3 - 1 P1 - Ensembl - C C - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:48662-48662 T intron_variant MODIFIER TUBB8 ENSG00000261456 Transcript ENST00000568866.5 protein_coding - 2/2 - - - - - - - rs781874733,COSV59116918 - -1 - HGNC HGNC:20773 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:48662-48662 T missense_variant MODERATE TUBB8 347688 Transcript NM_001389618.1 protein_coding 4/5 - - - 856 14 5 R/H cGc/cAc rs781874733,COSV59116918 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:48662-48662 T missense_variant MODERATE TUBB8 347688 Transcript NM_001389619.1 protein_coding 4/5 - - - 1261 14 5 R/H cGc/cAc rs781874733,COSV59116918 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:48662-48662 T missense_variant MODERATE TUBB8 347688 Transcript NM_177987.3 protein_coding 3/4 - - - 288 230 77 R/H cGc/cAc rs781874733,COSV59116918 - -1 - EntrezGene HGNC:20773 ENST00000568584.6 - - - - RefSeq - C C - deleterious_low_confidence(0) - - - 0,1 0,1 - - - - - - . 10:48662-48662 T upstream_gene_variant MODIFIER TUBB8 347688 Transcript XM_017016193.3 protein_coding - - - - - - - - - rs781874733,COSV59116918 204 -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:48662-48662 T missense_variant MODERATE TUBB8 347688 Transcript XM_047425177.1 protein_coding 2/4 - - - 173 154 52 A/T Gct/Act rs781874733,COSV59116918 - -1 - EntrezGene HGNC:20773 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:48662-48662 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062023.1 lncRNA - - - - - - - - - rs781874733,COSV59116918 3817 1 - EntrezGene - - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:48662-48662 T downstream_gene_variant MODIFIER LOC124902360 124902360 Transcript XR_007062024.1 lncRNA - - - - - - - - - rs781874733,COSV59116918 4957 1 - EntrezGene - - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:972645-972645 G non_coding_transcript_exon_variant MODIFIER - ENSG00000205740 Transcript ENST00000381466.2 lncRNA 2/2 - - - 387 - - - - rs4880745 - -1 - - - - - 2 - - Ensembl - T T - - - 0.5871 - - - - - - - - - . 10:972645-972645 G intron_variant MODIFIER LARP4B 23185 Transcript XM_047424893.1 protein_coding - 1/19 - - - - - - - rs4880745 - -1 - EntrezGene HGNC:28987 - - - - - RefSeq - T T - - - 0.5871 - - - - - - - - - . 10:972645-972645 G intron_variant MODIFIER LARP4B 23185 Transcript XM_047424894.1 protein_coding - 1/19 - - - - - - - rs4880745 - -1 - EntrezGene HGNC:28987 - - - - - RefSeq - T T - - - 0.5871 - - - - - - - - - . 10:972645-972645 G intron_variant MODIFIER LARP4B 23185 Transcript XM_047424897.1 protein_coding - 1/19 - - - - - - - rs4880745 - -1 - EntrezGene HGNC:28987 - - - - - RefSeq - T T - - - 0.5871 - - - - - - - - - . 10:1000772-1000772 A downstream_gene_variant MODIFIER GTPBP4 ENSG00000107937 Transcript ENST00000360059.5 protein_coding - - - - - - - - - rs2306409,COSV62552012 3464 1 cds_end_NF HGNC HGNC:21535 - - 5 - - Ensembl - G G - - - 0.5302 benign 0,1 1,1 36606188 - - - - - . 10:1000772-1000772 A synonymous_variant LOW GTPBP4 ENSG00000107937 Transcript ENST00000360803.9 protein_coding 7/17 - - - 796 750 250 A gcG/gcA rs2306409,COSV62552012 - 1 - HGNC HGNC:21535 NM_012341.3 - 1 P1 - Ensembl - G G - - - 0.5302 benign 0,1 1,1 36606188 - - - - - . 10:1000772-1000772 A non_coding_transcript_exon_variant MODIFIER GTPBP4 ENSG00000107937 Transcript ENST00000491635.1 protein_coding_CDS_not_defined 5/11 - - - 1629 - - - - rs2306409,COSV62552012 - 1 - HGNC HGNC:21535 - - 2 - - Ensembl - G G - - - 0.5302 benign 0,1 1,1 36606188 - - - - - . 10:1000772-1000772 A synonymous_variant LOW GTPBP4 23560 Transcript NM_012341.3 protein_coding 7/17 - - - 796 750 250 A gcG/gcA rs2306409,COSV62552012 - 1 - EntrezGene HGNC:21535 ENST00000360803.9 - - - - RefSeq - G G - - - 0.5302 benign 0,1 1,1 36606188 - - - - - . 10:1000772-1000772 A synonymous_variant LOW GTPBP4 23560 Transcript XM_047424932.1 protein_coding 7/17 - - - 1217 609 203 A gcG/gcA rs2306409,COSV62552012 - 1 - EntrezGene HGNC:21535 - - - - - RefSeq - G G - - - 0.5302 benign 0,1 1,1 36606188 - - - - - . 10:1015922-1015922 G downstream_gene_variant MODIFIER IDI2 ENSG00000148377 Transcript ENST00000277517.2 protein_coding - - - - - - - - - rs2306406 2988 -1 - HGNC HGNC:23487 NM_033261.3 - 1 P1 - Ensembl - A A - - - 0.2121 - - - - - - - - - . 10:1015922-1015922 G intron_variant MODIFIER GTPBP4 ENSG00000107937 Transcript ENST00000360803.9 protein_coding - 16/16 - - - - - - - rs2306406 - 1 - HGNC HGNC:21535 NM_012341.3 - 1 P1 - Ensembl - A A - - - 0.2121 - - - - - - - - - . 10:1015922-1015922 G intron_variant,non_coding_transcript_variant MODIFIER GTPBP4 ENSG00000107937 Transcript ENST00000483839.2 protein_coding_CDS_not_defined - 3/3 - - - - - - - rs2306406 - 1 - HGNC HGNC:21535 - - 2 - - Ensembl - A A - - - 0.2121 - - - - - - - - - . 10:1015922-1015922 G intron_variant MODIFIER GTPBP4 23560 Transcript NM_012341.3 protein_coding - 16/16 - - - - - - - rs2306406 - 1 - EntrezGene HGNC:21535 ENST00000360803.9 - - - - RefSeq - A A - - - 0.2121 - - - - - - - - - . 10:1015922-1015922 G downstream_gene_variant MODIFIER IDI2 91734 Transcript NM_033261.3 protein_coding - - - - - - - - - rs2306406 2988 -1 - EntrezGene HGNC:23487 ENST00000277517.2 - - - - RefSeq - A A - - - 0.2121 - - - - - - - - - . 10:1015922-1015922 G intron_variant MODIFIER GTPBP4 23560 Transcript XM_047424932.1 protein_coding - 16/16 - - - - - - - rs2306406 - 1 - EntrezGene HGNC:21535 - - - - - RefSeq - A A - - - 0.2121 - - - - - - - - - . 10:1096268-1096268 C intron_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000263150.9 protein_coding - 9/13 - - - - - - - rs10794716 - 1 - HGNC HGNC:31406 NM_014023.4 - 1 P1 - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000358220.5 protein_coding - 9/13 - - - - - - - rs10794716 - 1 - HGNC HGNC:31406 - - 1 P1 - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C stop_lost HIGH WDR37 ENSG00000047056 Transcript ENST00000381329.5 protein_coding 9/9 - - - 949 748 250 */R Tga/Cga rs10794716 - 1 - HGNC HGNC:31406 - - 1 - - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000436154.2 protein_coding - 8/12 - - - - - - - rs10794716 - 1 - HGNC HGNC:31406 - - 3 - - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000650072.1 protein_coding - 9/15 - - - - - - - rs10794716 - 1 - HGNC HGNC:31406 - - - - - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000704638.1 protein_coding - 9/13 - - - - - - - rs10794716 - 1 - HGNC HGNC:31406 - - - - - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant,NMD_transcript_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000704657.1 nonsense_mediated_decay - 10/14 - - - - - - - rs10794716 - 1 - HGNC HGNC:31406 - - - - - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000704658.1 protein_coding - 8/11 - - - - - - - rs10794716 - 1 cds_end_NF HGNC HGNC:31406 - - - - - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant,non_coding_transcript_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000704671.1 retained_intron - 8/12 - - - - - - - rs10794716 - 1 - HGNC HGNC:31406 - - - - - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant,NMD_transcript_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000704672.1 nonsense_mediated_decay - 9/14 - - - - - - - rs10794716 - 1 - HGNC HGNC:31406 - - - - - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000704673.1 protein_coding - 9/13 - - - - - - - rs10794716 - 1 - HGNC HGNC:31406 - - - - - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000704674.1 protein_coding - 8/12 - - - - - - - rs10794716 - 1 - HGNC HGNC:31406 - - - - - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant,non_coding_transcript_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000704738.1 protein_coding_CDS_not_defined - 8/12 - - - - - - - rs10794716 - 1 - HGNC HGNC:31406 - - - - - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant,NMD_transcript_variant MODIFIER WDR37 ENSG00000047056 Transcript ENST00000704739.1 nonsense_mediated_decay - 8/11 - - - - - - - rs10794716 - 1 cds_start_NF HGNC HGNC:31406 - - - - - Ensembl - T T - - - 0.9876 benign - 1 - - - - - - . 10:1096268-1096268 C intron_variant MODIFIER WDR37 22884 Transcript NM_014023.4 protein_coding - 9/13 - - - - - - - rs10794716 - 1 - EntrezGene HGNC:31406 ENST00000263150.9 - - - - RefSeq - T T - - - 0.9876 benign - 1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding - 24/25 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000381072.5 retained_intron - - - - - - - - - rs2279217,COSV56525502 2018 1 - HGNC HGNC:8878 - - 1 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000381075.7 protein_coding - - - - - - - - - rs2279217,COSV56525502 2013 1 - HGNC HGNC:8878 - - 2 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000381125.9 protein_coding - - - - - - - - - rs2279217,COSV56525502 2009 1 - HGNC HGNC:8878 NM_002627.5 - 1 P1 - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000415005.6 protein_coding - - - - - - - - - rs2279217,COSV56525502 1093 1 - HGNC HGNC:8878 - - 2 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000424714.1 protein_coding - - - - - - - - - rs2279217,COSV56525502 4672 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G upstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000430356.3 lncRNA - - - - - - - - - rs2279217,COSV56525502 2861 1 - HGNC HGNC:44675 - - 1 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000433193.2 protein_coding - - - - - - - - - rs2279217,COSV56525502 1096 1 cds_start_NF HGNC HGNC:8878 - - 3 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding - 22/23 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451454.5 protein_coding - - - - - - - - - rs2279217,COSV56525502 2697 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G stop_lost HIGH PITRM1 ENSG00000107959 Transcript ENST00000455371.5 protein_coding 4/4 - - - 553 553 185 */Q Tag/Cag rs2279217,COSV56525502 - -1 cds_start_NF HGNC HGNC:17663 - - 2 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000464395.1 retained_intron - 7/8 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - 1 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000490510.6 protein_coding_CDS_not_defined - 3/4 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G upstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - - - - - - - - - rs2279217,COSV56525502 2821 1 - HGNC HGNC:44675 - - 5 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G upstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - - - - - - - - - rs2279217,COSV56525502 2821 1 - HGNC HGNC:44675 - - 5 - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676719.1 retained_intron - 14/15 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000676796.1 protein_coding - - - - - - - - - rs2279217,COSV56525502 2013 1 - HGNC HGNC:8878 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676917.1 protein_coding_CDS_not_defined - 3/4 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding - 24/25 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay - 23/24 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined - 19/20 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron 22/23 - - - 4743 - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000678089.1 nonsense_mediated_decay - - - - - - - - - rs2279217,COSV56525502 2018 1 - HGNC HGNC:8878 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000678206.1 nonsense_mediated_decay - - - - - - - - - rs2279217,COSV56525502 2015 1 - HGNC HGNC:8878 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding - 24/25 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay - 23/24 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding - 23/24 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding - 24/25 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron 25/25 - - - 3046 - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay - 26/27 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678756.1 retained_intron 3/3 - - - 718 - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678811.1 protein_coding - 11/12 - - - - - - - rs2279217,COSV56525502 - -1 cds_start_NF HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay - 26/27 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron - 22/23 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay - 26/27 - - - - - - - rs2279217,COSV56525502 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000699222.1 protein_coding - - - - - - - - - rs2279217,COSV56525502 2015 1 - HGNC HGNC:8878 - - - - - Ensembl - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001242307.2 protein_coding - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001242309.1 protein_coding - 22/23 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A OK - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001242339.2 protein_coding - - - - - - - - - rs2279217,COSV56525502 2009 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323067.2 protein_coding - - - - - - - - - rs2279217,COSV56525502 2009 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323068.2 protein_coding - - - - - - - - - rs2279217,COSV56525502 2009 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323069.2 protein_coding - - - - - - - - - rs2279217,COSV56525502 2009 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323070.1 protein_coding - - - - - - - - - rs2279217,COSV56525502 2006 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323071.2 protein_coding - - - - - - - - - rs2279217,COSV56525502 2009 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323072.2 protein_coding - - - - - - - - - rs2279217,COSV56525502 2009 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323073.1 protein_coding - - - - - - - - - rs2279217,COSV56525502 2006 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323074.1 protein_coding - - - - - - - - - rs2279217,COSV56525502 2006 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001345944.1 protein_coding - - - - - - - - - rs2279217,COSV56525502 2009 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347725.2 protein_coding - 23/24 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347726.2 protein_coding - 23/24 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347727.2 protein_coding - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347728.2 protein_coding - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347729.1 protein_coding - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347730.1 protein_coding - 23/24 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_002627.5 protein_coding - - - - - - - - - rs2279217,COSV56525502 2009 1 - EntrezGene HGNC:8878 ENST00000381125.9 - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant MODIFIER PITRM1 10531 Transcript NM_014889.4 protein_coding - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G upstream_gene_variant MODIFIER PITRM1-AS1 100507034 Transcript NR_038284.1 lncRNA - - - - - - - - - rs2279217,COSV56525502 2790 1 - EntrezGene HGNC:44675 - - - - - RefSeq - A A OK - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER SNORD142 106633806 Transcript NR_132758.2 snoRNA - - - - - - - - - rs2279217,COSV56525502 4513 1 - EntrezGene - - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA - 25/26 - - - - - - - rs2279217,COSV56525502 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_005252465.5 protein_coding - - - - - - - - - rs2279217,COSV56525502 2006 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_005252466.5 protein_coding - - - - - - - - - rs2279217,COSV56525502 2006 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_006717449.2 protein_coding - - - - - - - - - rs2279217,COSV56525502 2006 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138811-3138811 G downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_047425350.1 protein_coding - - - - - - - - - rs2279217,COSV56525502 2006 1 - EntrezGene HGNC:8878 - - - - - RefSeq - A A - - - 0.6953 - 0,1 0,1 - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding - 25/26 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding - 25/26 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding - 24/25 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000381072.5 retained_intron - - - - - - - - - rs74802628 2060 1 - HGNC HGNC:8878 - - 1 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000381075.7 protein_coding - - - - - - - - - rs74802628 2055 1 - HGNC HGNC:8878 - - 2 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000381125.9 protein_coding - - - - - - - - - rs74802628 2051 1 - HGNC HGNC:8878 NM_002627.5 - 1 P1 - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000415005.6 protein_coding - - - - - - - - - rs74802628 1135 1 - HGNC HGNC:8878 - - 2 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000424714.1 protein_coding - - - - - - - - - rs74802628 4630 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T upstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000430356.3 lncRNA - - - - - - - - - rs74802628 2819 1 - HGNC HGNC:44675 - - 1 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000433193.2 protein_coding - - - - - - - - - rs74802628 1138 1 cds_start_NF HGNC HGNC:8878 - - 3 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding - 22/23 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451454.5 protein_coding - - - - - - - - - rs74802628 2655 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000455371.5 protein_coding 4/4 - - - 511 511 171 V/I Gtt/Att rs74802628 - -1 cds_start_NF HGNC HGNC:17663 - - 2 - - Ensembl - C C - tolerated_low_confidence(0.06) benign(0.042) 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000464395.1 retained_intron - 7/8 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - 1 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000490510.6 protein_coding_CDS_not_defined - 3/4 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T upstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - - - - - - - - - rs74802628 2779 1 - HGNC HGNC:44675 - - 5 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T upstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - - - - - - - - - rs74802628 2779 1 - HGNC HGNC:44675 - - 5 - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined - 25/26 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676719.1 retained_intron - 14/15 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000676796.1 protein_coding - - - - - - - - - rs74802628 2055 1 - HGNC HGNC:8878 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676917.1 protein_coding_CDS_not_defined - 3/4 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding - 24/25 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay - 25/26 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay - 23/24 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay - 25/26 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined - 19/20 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay - 25/26 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay - 25/26 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron 22/23 - - - 4701 - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000678089.1 nonsense_mediated_decay - - - - - - - - - rs74802628 2060 1 - HGNC HGNC:8878 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000678206.1 nonsense_mediated_decay - - - - - - - - - rs74802628 2057 1 - HGNC HGNC:8878 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding - 24/25 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay - 23/24 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding - 23/24 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding - 24/25 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron 25/25 - - - 3004 - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay - 26/27 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678756.1 retained_intron 3/3 - - - 676 - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678811.1 protein_coding - 11/12 - - - - - - - rs74802628 - -1 cds_start_NF HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay - 26/27 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron - 22/23 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding - 25/26 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay - 25/26 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay - - - - - - - - - rs74802628 4974 -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay - 26/27 - - - - - - - rs74802628 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000699222.1 protein_coding - - - - - - - - - rs74802628 2057 1 - HGNC HGNC:8878 - - - - - Ensembl - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001242307.2 protein_coding - 25/26 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001242309.1 protein_coding - 22/23 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C OK - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001242339.2 protein_coding - - - - - - - - - rs74802628 2051 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323067.2 protein_coding - - - - - - - - - rs74802628 2051 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323068.2 protein_coding - - - - - - - - - rs74802628 2051 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323069.2 protein_coding - - - - - - - - - rs74802628 2051 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323070.1 protein_coding - - - - - - - - - rs74802628 2048 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323071.2 protein_coding - - - - - - - - - rs74802628 2051 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323072.2 protein_coding - - - - - - - - - rs74802628 2051 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323073.1 protein_coding - - - - - - - - - rs74802628 2048 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323074.1 protein_coding - - - - - - - - - rs74802628 2048 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001345944.1 protein_coding - - - - - - - - - rs74802628 2051 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001347725.2 protein_coding - 23/24 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001347726.2 protein_coding - 23/24 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001347727.2 protein_coding - 25/26 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001347728.2 protein_coding - 25/26 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001347729.1 protein_coding - 25/26 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001347730.1 protein_coding - 23/24 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_002627.5 protein_coding - - - - - - - - - rs74802628 2051 1 - EntrezGene HGNC:8878 ENST00000381125.9 - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant MODIFIER PITRM1 10531 Transcript NM_014889.4 protein_coding - 25/26 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T upstream_gene_variant MODIFIER PITRM1-AS1 100507034 Transcript NR_038284.1 lncRNA - - - - - - - - - rs74802628 2748 1 - EntrezGene HGNC:44675 - - - - - RefSeq - C C OK - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER SNORD142 106633806 Transcript NR_132758.2 snoRNA - - - - - - - - - rs74802628 4555 1 - EntrezGene - - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA - 25/26 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA - 25/26 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA - 25/26 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA - 25/26 - - - - - - - rs74802628 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_005252465.5 protein_coding - - - - - - - - - rs74802628 2048 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_005252466.5 protein_coding - - - - - - - - - rs74802628 2048 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_006717449.2 protein_coding - - - - - - - - - rs74802628 2048 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138853-3138853 T downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_047425350.1 protein_coding - - - - - - - - - rs74802628 2048 1 - EntrezGene HGNC:8878 - - - - - RefSeq - C C - - - 0.0086 - - - - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding 25/27 - - - 2916 2906 969 P/L cCt/cTt rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - G G - deleterious(0) probably_damaging(0.946) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding 25/27 - - - 2978 2909 970 P/L cCt/cTt rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - G G - deleterious(0) probably_damaging(0.998) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding 24/26 - - - 2774 2291 764 P/L cCt/cTt rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - G G - deleterious(0) possibly_damaging(0.864) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000381072.5 retained_intron - - - - - - - - - rs2279218,COSV56526128 2122 1 - HGNC HGNC:8878 - - 1 - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000381075.7 protein_coding - - - - - - - - - rs2279218,COSV56526128 2117 1 - HGNC HGNC:8878 - - 2 - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000381125.9 protein_coding - - - - - - - - - rs2279218,COSV56526128 2113 1 - HGNC HGNC:8878 NM_002627.5 - 1 P1 - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000415005.6 protein_coding - - - - - - - - - rs2279218,COSV56526128 1197 1 - HGNC HGNC:8878 - - 2 - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000424714.1 protein_coding - - - - - - - - - rs2279218,COSV56526128 4568 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A upstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000430356.3 lncRNA - - - - - - - - - rs2279218,COSV56526128 2757 1 - HGNC HGNC:44675 - - 1 - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000433193.2 protein_coding - - - - - - - - - rs2279218,COSV56526128 1200 1 cds_start_NF HGNC HGNC:8878 - - 3 - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding 22/24 - - - 2674 2612 871 P/L cCt/cTt rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - G G - deleterious(0) probably_damaging(0.929) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451454.5 protein_coding - - - - - - - - - rs2279218,COSV56526128 2593 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000455371.5 protein_coding 4/4 - - - 449 449 150 P/L cCt/cTt rs2279218,COSV56526128 - -1 cds_start_NF HGNC HGNC:17663 - - 2 - - Ensembl - G G - deleterious(0) probably_damaging(0.993) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000464395.1 retained_intron 7/9 - - - 2729 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - 1 - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000490510.6 protein_coding_CDS_not_defined 3/5 - - - 322 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A upstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - - - - - - - - - rs2279218,COSV56526128 2717 1 - HGNC HGNC:44675 - - 5 - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A upstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - - - - - - - - - rs2279218,COSV56526128 2717 1 - HGNC HGNC:44675 - - 5 - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined 25/27 - - - 2893 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676719.1 retained_intron 14/16 - - - 2074 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000676796.1 protein_coding - - - - - - - - - rs2279218,COSV56526128 2117 1 - HGNC HGNC:8878 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676917.1 protein_coding_CDS_not_defined 3/5 - - - 382 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding 24/26 - - - 2778 2771 924 P/L cCt/cTt rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0) probably_damaging(0.929) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay 25/27 - - - 2989 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay 23/25 - - - 2698 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay 25/27 - - - 3461 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined 19/21 - - - 2670 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay 25/27 - - - 3201 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay 25/27 - - - 2893 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron 22/23 - - - 4639 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000678089.1 nonsense_mediated_decay - - - - - - - - - rs2279218,COSV56526128 2122 1 - HGNC HGNC:8878 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000678206.1 nonsense_mediated_decay - - - - - - - - - rs2279218,COSV56526128 2119 1 - HGNC HGNC:8878 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding 24/26 - - - 2814 2780 927 P/L cCt/cTt rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0) probably_damaging(0.956) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay 23/25 - - - 3253 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding 23/25 - - - 2743 2708 903 P/L cCt/cTt rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0) probably_damaging(0.987) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding 24/26 - - - 2801 2783 928 P/L cCt/cTt rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0) probably_damaging(0.929) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron 25/25 - - - 2942 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay 26/28 - - - 3132 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678756.1 retained_intron 3/3 - - - 614 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678811.1 protein_coding 11/13 - - - 1251 1253 418 P/L cCt/cTt rs2279218,COSV56526128 - -1 cds_start_NF HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0) benign(0.21) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay 26/28 - - - 3129 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron 22/24 - - - 4611 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding 25/27 - - - 2875 2858 953 P/L cCt/cTt rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0) possibly_damaging(0.861) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay 25/27 - - - 4102 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay - - - - - - - - - rs2279218,COSV56526128 4912 -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay 26/28 - - - 3092 - - - - rs2279218,COSV56526128 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000699222.1 protein_coding - - - - - - - - - rs2279218,COSV56526128 2119 1 - HGNC HGNC:8878 - - - - - Ensembl - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 10531 Transcript NM_001242307.2 protein_coding 25/27 - - - 2919 2909 970 P/L cCt/cTt rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0) probably_damaging(0.998) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 10531 Transcript NM_001242309.1 protein_coding 22/24 - - - 2674 2612 871 P/L cCt/cTt rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G OK deleterious(0) probably_damaging(0.929) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001242339.2 protein_coding - - - - - - - - - rs2279218,COSV56526128 2113 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323067.2 protein_coding - - - - - - - - - rs2279218,COSV56526128 2113 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323068.2 protein_coding - - - - - - - - - rs2279218,COSV56526128 2113 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323069.2 protein_coding - - - - - - - - - rs2279218,COSV56526128 2113 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323070.1 protein_coding - - - - - - - - - rs2279218,COSV56526128 2110 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323071.2 protein_coding - - - - - - - - - rs2279218,COSV56526128 2113 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323072.2 protein_coding - - - - - - - - - rs2279218,COSV56526128 2113 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323073.1 protein_coding - - - - - - - - - rs2279218,COSV56526128 2110 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323074.1 protein_coding - - - - - - - - - rs2279218,COSV56526128 2110 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001345944.1 protein_coding - - - - - - - - - rs2279218,COSV56526128 2113 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 10531 Transcript NM_001347725.2 protein_coding 23/25 - - - 2718 2708 903 P/L cCt/cTt rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0) probably_damaging(0.987) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 10531 Transcript NM_001347726.2 protein_coding 23/25 - - - 2674 2093 698 P/L cCt/cTt rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0) probably_damaging(0.929) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 10531 Transcript NM_001347727.2 protein_coding 25/27 - - - 2872 2291 764 P/L cCt/cTt rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0) possibly_damaging(0.864) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 10531 Transcript NM_001347728.2 protein_coding 25/27 - - - 2911 1601 534 P/L cCt/cTt rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0) possibly_damaging(0.864) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 10531 Transcript NM_001347729.1 protein_coding 25/27 - - - 3385 2882 961 P/L cCt/cTt rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0) probably_damaging(0.946) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 10531 Transcript NM_001347730.1 protein_coding 23/25 - - - 3187 2684 895 P/L cCt/cTt rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0) probably_damaging(0.987) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_002627.5 protein_coding - - - - - - - - - rs2279218,COSV56526128 2113 1 - EntrezGene HGNC:8878 ENST00000381125.9 - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A missense_variant MODERATE PITRM1 10531 Transcript NM_014889.4 protein_coding 25/27 - - - 2916 2906 969 P/L cCt/cTt rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - G G - deleterious(0) probably_damaging(0.946) 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A upstream_gene_variant MODIFIER PITRM1-AS1 100507034 Transcript NR_038284.1 lncRNA - - - - - - - - - rs2279218,COSV56526128 2686 1 - EntrezGene HGNC:44675 - - - - - RefSeq - G G OK - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER SNORD142 106633806 Transcript NR_132758.2 snoRNA - - - - - - - - - rs2279218,COSV56526128 4617 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA 25/27 - - - 3146 - - - - rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA 25/27 - - - 3193 - - - - rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA 25/27 - - - 3190 - - - - rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA 25/27 - - - 3149 - - - - rs2279218,COSV56526128 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_005252465.5 protein_coding - - - - - - - - - rs2279218,COSV56526128 2110 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_005252466.5 protein_coding - - - - - - - - - rs2279218,COSV56526128 2110 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_006717449.2 protein_coding - - - - - - - - - rs2279218,COSV56526128 2110 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3138915-3138915 A downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_047425350.1 protein_coding - - - - - - - - - rs2279218,COSV56526128 2110 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.0357 benign 0,1 1,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding - 23/25 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000381072.5 retained_intron - - - - - - - - - rs2279220,COSV56526151 2297 1 - HGNC HGNC:8878 - - 1 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000381075.7 protein_coding - - - - - - - - - rs2279220,COSV56526151 2292 1 - HGNC HGNC:8878 - - 2 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000381125.9 protein_coding - - - - - - - - - rs2279220,COSV56526151 2288 1 - HGNC HGNC:8878 NM_002627.5 - 1 P1 - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000415005.6 protein_coding - - - - - - - - - rs2279220,COSV56526151 1372 1 - HGNC HGNC:8878 - - 2 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000424714.1 protein_coding - - - - - - - - - rs2279220,COSV56526151 4393 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A upstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000430356.3 lncRNA - - - - - - - - - rs2279220,COSV56526151 2582 1 - HGNC HGNC:44675 - - 1 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000433193.2 protein_coding - - - - - - - - - rs2279220,COSV56526151 1375 1 cds_start_NF HGNC HGNC:8878 - - 3 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding - 21/23 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451454.5 protein_coding - - - - - - - - - rs2279220,COSV56526151 2418 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000455371.5 protein_coding - 3/3 - - - - - - - rs2279220,COSV56526151 - -1 cds_start_NF HGNC HGNC:17663 - - 2 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000464395.1 retained_intron - 6/8 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - 1 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000490510.6 protein_coding_CDS_not_defined - 2/4 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A upstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - - - - - - - - - rs2279220,COSV56526151 2542 1 - HGNC HGNC:44675 - - 5 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A upstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - - - - - - - - - rs2279220,COSV56526151 2542 1 - HGNC HGNC:44675 - - 5 - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676719.1 retained_intron - 13/15 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000676796.1 protein_coding - - - - - - - - - rs2279220,COSV56526151 2292 1 - HGNC HGNC:8878 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676917.1 protein_coding_CDS_not_defined - 2/4 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding - 23/25 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay - 22/24 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined - 18/20 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron - 21/22 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000678089.1 nonsense_mediated_decay - - - - - - - - - rs2279220,COSV56526151 2297 1 - HGNC HGNC:8878 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000678206.1 nonsense_mediated_decay - - - - - - - - - rs2279220,COSV56526151 2294 1 - HGNC HGNC:8878 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding - 23/25 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay - 22/24 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding - 22/24 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding - 23/25 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron - 24/24 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay - 25/27 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678756.1 retained_intron - 2/2 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678811.1 protein_coding - 10/12 - - - - - - - rs2279220,COSV56526151 - -1 cds_start_NF HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay - 25/27 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron - 21/23 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay - - - - - - - - - rs2279220,COSV56526151 4737 -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay - 25/27 - - - - - - - rs2279220,COSV56526151 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP ENSG00000067057 Transcript ENST00000699222.1 protein_coding - - - - - - - - - rs2279220,COSV56526151 2294 1 - HGNC HGNC:8878 - - - - - Ensembl - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 10531 Transcript NM_001242307.2 protein_coding - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 10531 Transcript NM_001242309.1 protein_coding - 21/23 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G OK - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001242339.2 protein_coding - - - - - - - - - rs2279220,COSV56526151 2288 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323067.2 protein_coding - - - - - - - - - rs2279220,COSV56526151 2288 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323068.2 protein_coding - - - - - - - - - rs2279220,COSV56526151 2288 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323069.2 protein_coding - - - - - - - - - rs2279220,COSV56526151 2288 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323070.1 protein_coding - - - - - - - - - rs2279220,COSV56526151 2285 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323071.2 protein_coding - - - - - - - - - rs2279220,COSV56526151 2288 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323072.2 protein_coding - - - - - - - - - rs2279220,COSV56526151 2288 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323073.1 protein_coding - - - - - - - - - rs2279220,COSV56526151 2285 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001323074.1 protein_coding - - - - - - - - - rs2279220,COSV56526151 2285 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_001345944.1 protein_coding - - - - - - - - - rs2279220,COSV56526151 2288 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 10531 Transcript NM_001347725.2 protein_coding - 22/24 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 10531 Transcript NM_001347726.2 protein_coding - 22/24 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 10531 Transcript NM_001347727.2 protein_coding - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 10531 Transcript NM_001347728.2 protein_coding - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 10531 Transcript NM_001347729.1 protein_coding - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 10531 Transcript NM_001347730.1 protein_coding - 22/24 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript NM_002627.5 protein_coding - - - - - - - - - rs2279220,COSV56526151 2288 1 - EntrezGene HGNC:8878 ENST00000381125.9 - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant MODIFIER PITRM1 10531 Transcript NM_014889.4 protein_coding - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A upstream_gene_variant MODIFIER PITRM1-AS1 100507034 Transcript NR_038284.1 lncRNA - - - - - - - - - rs2279220,COSV56526151 2511 1 - EntrezGene HGNC:44675 - - - - - RefSeq - G G OK - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER SNORD142 106633806 Transcript NR_132758.2 snoRNA - - - - - - - - - rs2279220,COSV56526151 4792 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA - 24/26 - - - - - - - rs2279220,COSV56526151 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_005252465.5 protein_coding - - - - - - - - - rs2279220,COSV56526151 2285 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_005252466.5 protein_coding - - - - - - - - - rs2279220,COSV56526151 2285 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_006717449.2 protein_coding - - - - - - - - - rs2279220,COSV56526151 2285 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3139090-3139090 A downstream_gene_variant MODIFIER PFKP 5214 Transcript XM_047425350.1 protein_coding - - - - - - - - - rs2279220,COSV56526151 2285 1 - EntrezGene HGNC:8878 - - - - - RefSeq - G G - - - 0.6947 - 0,1 0,1 - - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding 20/27 - - - 2308 2298 766 P ccG/ccA rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding 20/27 - - - 2370 2301 767 P ccG/ccA rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding 19/26 - - - 2166 1683 561 P ccG/ccA rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T upstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000424714.1 protein_coding - - - - - - - - - rs3740607,COSV56526166 1479 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000430356.3 lncRNA 4/4 - - - 2564 - - - - rs3740607,COSV56526166 - 1 - HGNC HGNC:44675 - - 1 - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000430362.2 protein_coding - - - - - - - - - rs3740607,COSV56526166 3988 -1 - HGNC HGNC:17663 - - 3 - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding 17/24 - - - 2066 2004 668 P ccG/ccA rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000451454.5 protein_coding 3/7 - - - 298 300 100 P ccG/ccA rs3740607,COSV56526166 - -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T upstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000455371.5 protein_coding - - - - - - - - - rs3740607,COSV56526166 2822 -1 cds_start_NF HGNC HGNC:17663 - - 2 - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000464395.1 retained_intron 2/9 - - - 1891 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - 1 - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - 2/3 - - - - - - - rs3740607,COSV56526166 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - 3/3 - - - - - - - rs3740607,COSV56526166 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined 20/27 - - - 2285 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676719.1 retained_intron 9/16 - - - 1466 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding 19/26 - - - 2170 2163 721 P ccG/ccA rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay 20/27 - - - 2381 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay 18/25 - - - 2090 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay 20/27 - - - 2853 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined 14/21 - - - 1788 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay 20/27 - - - 2332 2298 766 P ccG/ccA rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay 20/27 - - - 2332 2298 766 P ccG/ccA rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron 17/23 - - - 4031 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding 20/26 - - - 2332 2298 766 P ccG/ccA rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay 18/25 - - - 2645 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding 18/25 - - - 2135 2100 700 P ccG/ccA rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding 20/26 - - - 2319 2301 767 P ccG/ccA rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron 20/25 - - - 2332 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay 21/28 - - - 2524 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678663.1 protein_coding - - - - - - - - - rs3740607,COSV56526166 3989 -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T upstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678756.1 retained_intron - - - - - - - - - rs3740607,COSV56526166 4319 -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678811.1 protein_coding 5/13 - - - 517 519 173 P ccG/ccA rs3740607,COSV56526166 - -1 cds_start_NF HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay 21/28 - - - 2521 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678972.1 nonsense_mediated_decay - - - - - - - - - rs3740607,COSV56526166 4014 -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron 17/24 - - - 4001 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding 20/27 - - - 2267 2250 750 P ccG/ccA rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay 20/27 - - - 3220 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay 20/23 - - - 2288 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay 21/28 - - - 2484 - - - - rs3740607,COSV56526166 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 10531 Transcript NM_001242307.2 protein_coding 20/27 - - - 2311 2301 767 P ccG/ccA rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 10531 Transcript NM_001242309.1 protein_coding 17/24 - - - 2066 2004 668 P ccG/ccA rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C OK - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 10531 Transcript NM_001347725.2 protein_coding 18/25 - - - 2110 2100 700 P ccG/ccA rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 10531 Transcript NM_001347726.2 protein_coding 18/25 - - - 2066 1485 495 P ccG/ccA rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 10531 Transcript NM_001347727.2 protein_coding 20/27 - - - 2264 1683 561 P ccG/ccA rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 10531 Transcript NM_001347728.2 protein_coding 20/27 - - - 2303 993 331 P ccG/ccA rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 10531 Transcript NM_001347729.1 protein_coding 20/27 - - - 2777 2274 758 P ccG/ccA rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 10531 Transcript NM_001347730.1 protein_coding 18/25 - - - 2579 2076 692 P ccG/ccA rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T synonymous_variant LOW PITRM1 10531 Transcript NM_014889.4 protein_coding 20/27 - - - 2308 2298 766 P ccG/ccA rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1-AS1 100507034 Transcript NR_038284.1 lncRNA 4/4 - - - 2635 - - - - rs3740607,COSV56526166 - 1 - EntrezGene HGNC:44675 - - - - - RefSeq - C C OK - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA 20/27 - - - 2308 - - - - rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA 20/27 - - - 2311 - - - - rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA 20/27 - - - 2308 - - - - rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA 20/27 - - - 2311 - - - - rs3740607,COSV56526166 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T downstream_gene_variant MODIFIER PITRM1 10531 Transcript XM_047424445.1 protein_coding - - - - - - - - - rs3740607,COSV56526166 998 -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3147188-3147188 T downstream_gene_variant MODIFIER PITRM1 10531 Transcript XM_047424446.1 protein_coding - - - - - - - - - rs3740607,COSV56526166 447 -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.5453 benign 0,1 1,1 19962426,30595370 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding - 16/25 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G upstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000424714.1 protein_coding - - - - - - - - - rs4881111,COSV56533818 2364 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G non_coding_transcript_exon_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000430356.3 lncRNA 4/4 - - - 3449 - - - - rs4881111,COSV56533818 - 1 - HGNC HGNC:44675 - - 1 - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000430362.2 protein_coding - - - - - - - - - rs4881111,COSV56533818 3103 -1 - HGNC HGNC:17663 - - 3 - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding - 15/23 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G upstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451454.5 protein_coding - - - - - - - - - rs4881111,COSV56533818 18 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G upstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000455371.5 protein_coding - - - - - - - - - rs4881111,COSV56533818 3707 -1 cds_start_NF HGNC HGNC:17663 - - 2 - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000464395.1 retained_intron 1/9 - - - 1327 - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - 1 - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - 2/3 - - - - - - - rs4881111,COSV56533818 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - 3/3 - - - - - - - rs4881111,COSV56533818 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000676719.1 retained_intron - 6/15 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding - 16/25 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay - 16/24 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined - 11/20 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron 16/23 - - - 3467 - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding - 17/25 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay - 16/24 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding - 16/24 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding - 17/25 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron - 17/24 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay - 18/27 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678663.1 protein_coding - - - - - - - - - rs4881111,COSV56533818 3104 -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678811.1 protein_coding - 2/12 - - - - - - - rs4881111,COSV56533818 - -1 cds_start_NF HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay - 18/27 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678972.1 nonsense_mediated_decay - - - - - - - - - rs4881111,COSV56533818 3129 -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron 16/24 - - - 3437 - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay - 17/22 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay - 18/27 - - - - - - - rs4881111,COSV56533818 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 10531 Transcript NM_001242307.2 protein_coding - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001242309.1 protein_coding - 15/23 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A OK - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347725.2 protein_coding - 16/24 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347726.2 protein_coding - 16/24 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 10531 Transcript NM_001347727.2 protein_coding - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 10531 Transcript NM_001347728.2 protein_coding - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 10531 Transcript NM_001347729.1 protein_coding - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347730.1 protein_coding - 16/24 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant LOW PITRM1 10531 Transcript NM_014889.4 protein_coding - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G non_coding_transcript_exon_variant MODIFIER PITRM1-AS1 100507034 Transcript NR_038284.1 lncRNA 4/4 - - - 3520 - - - - rs4881111,COSV56533818 - 1 - EntrezGene HGNC:44675 - - - - - RefSeq - A A OK - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW PITRM1 10531 Transcript NR_144638.2 misc_RNA - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW PITRM1 10531 Transcript NR_144639.2 misc_RNA - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW PITRM1 10531 Transcript NR_144640.2 misc_RNA - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW PITRM1 10531 Transcript NR_144641.2 misc_RNA - 17/26 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G downstream_gene_variant MODIFIER PITRM1 10531 Transcript XM_047424445.1 protein_coding - - - - - - - - - rs4881111,COSV56533818 113 -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148073-3148073 G intron_variant MODIFIER PITRM1 10531 Transcript XM_047424446.1 protein_coding - 16/16 - - - - - - - rs4881111,COSV56533818 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.4794 - 0,1 1,1 20948966,36224396 - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding - 16/25 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T upstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000424714.1 protein_coding - - - - - - - - - rs4881112,COSV56529743 2397 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T non_coding_transcript_exon_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000430356.3 lncRNA 4/4 - - - 3482 - - - - rs4881112,COSV56529743 - 1 - HGNC HGNC:44675 - - 1 - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000430362.2 protein_coding - - - - - - - - - rs4881112,COSV56529743 3070 -1 - HGNC HGNC:17663 - - 3 - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding - 15/23 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T upstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451454.5 protein_coding - - - - - - - - - rs4881112,COSV56529743 51 -1 cds_start_NF HGNC HGNC:17663 - - 3 - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T upstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000455371.5 protein_coding - - - - - - - - - rs4881112,COSV56529743 3740 -1 cds_start_NF HGNC HGNC:17663 - - 2 - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000464395.1 retained_intron 1/9 - - - 1294 - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - 1 - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - 2/3 - - - - - - - rs4881112,COSV56529743 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - 3/3 - - - - - - - rs4881112,COSV56529743 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676719.1 retained_intron - 6/15 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding - 16/25 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay - 16/24 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined - 11/20 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron 16/23 - - - 3434 - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding - 17/25 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay - 16/24 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding - 16/24 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding - 17/25 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron - 17/24 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay - 18/27 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678663.1 protein_coding - - - - - - - - - rs4881112,COSV56529743 3071 -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678811.1 protein_coding - 2/12 - - - - - - - rs4881112,COSV56529743 - -1 cds_start_NF HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay - 18/27 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678972.1 nonsense_mediated_decay - - - - - - - - - rs4881112,COSV56529743 3096 -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron 16/24 - - - 3404 - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay - 17/22 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay - 18/27 - - - - - - - rs4881112,COSV56529743 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001242307.2 protein_coding - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001242309.1 protein_coding - 15/23 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C OK - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001347725.2 protein_coding - 16/24 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001347726.2 protein_coding - 16/24 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001347727.2 protein_coding - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001347728.2 protein_coding - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001347729.1 protein_coding - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 10531 Transcript NM_001347730.1 protein_coding - 16/24 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 10531 Transcript NM_014889.4 protein_coding - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T non_coding_transcript_exon_variant MODIFIER PITRM1-AS1 100507034 Transcript NR_038284.1 lncRNA 4/4 - - - 3553 - - - - rs4881112,COSV56529743 - 1 - EntrezGene HGNC:44675 - - - - - RefSeq - C C OK - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA - 17/26 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T downstream_gene_variant MODIFIER PITRM1 10531 Transcript XM_047424445.1 protein_coding - - - - - - - - - rs4881112,COSV56529743 80 -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3148106-3148106 T intron_variant MODIFIER PITRM1 10531 Transcript XM_047424446.1 protein_coding - 16/16 - - - - - - - rs4881112,COSV56529743 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.4718 - 0,1 0,1 - - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding 14/27 - - - 1558 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - C C - deleterious(0.03) benign(0.001) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding 14/27 - - - 1617 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - C C - deleterious(0.03) benign(0.021) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding 13/26 - - - 1416 933 311 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - C C - deleterious(0.03) benign(0.007) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000430362.2 protein_coding 14/15 - - - 1583 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - 3 - - Ensembl - C C - tolerated(0.06) benign(0.006) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding 13/24 - - - 1514 1452 484 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - C C - deleterious(0.04) benign(0.059) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - 2/3 - - - - - - - rs3765101,COSV56528174 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - 3/3 - - - - - - - rs3765101,COSV56528174 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined 14/27 - - - 1532 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676719.1 retained_intron 3/16 - - - 716 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding 13/26 - - - 1420 1413 471 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - tolerated(0.06) benign(0.015) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay 14/27 - - - 1631 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay 14/25 - - - 1538 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay 14/27 - - - 2103 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined 8/21 - - - 1038 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant,NMD_transcript_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay 14/27 - - - 1582 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - tolerated(0.07) benign(0.006) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant,NMD_transcript_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay 14/27 - - - 1582 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - tolerated(0.06) benign(0.003) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron 14/23 - - - 1596 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding 14/26 - - - 1582 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - deleterious(0.03) benign(0.015) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay 14/25 - - - 2093 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding 14/25 - - - 1583 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - deleterious(0.04) benign(0.009) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding 14/26 - - - 1566 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - deleterious(0.03) benign(0.015) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron 14/25 - - - 1582 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay 15/28 - - - 1774 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678663.1 protein_coding 13/14 - - - 1420 1413 471 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - tolerated(0.05) benign(0.031) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay 15/28 - - - 1771 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678972.1 nonsense_mediated_decay 14/15 - - - 1579 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron 14/24 - - - 1566 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding 14/27 - - - 1517 1500 500 Q/H caG/caC rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - deleterious(0.03) benign(0.015) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay 14/27 - - - 2470 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay 14/23 - - - 1538 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay 15/28 - - - 1734 - - - - rs3765101,COSV56528174 - -1 - HGNC HGNC:17663 - - - - - Ensembl - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 10531 Transcript NM_001242307.2 protein_coding 14/27 - - - 1558 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - deleterious(0.03) benign(0.021) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 10531 Transcript NM_001242309.1 protein_coding 13/24 - - - 1514 1452 484 Q/H caG/caC rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C OK deleterious(0.04) benign(0.059) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 10531 Transcript NM_001347725.2 protein_coding 14/25 - - - 1558 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - deleterious(0.04) benign(0.009) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 10531 Transcript NM_001347726.2 protein_coding 14/25 - - - 1514 933 311 Q/H caG/caC rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - deleterious(0.04) benign(0.059) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 10531 Transcript NM_001347727.2 protein_coding 14/27 - - - 1514 933 311 Q/H caG/caC rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - deleterious(0.03) benign(0.007) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 10531 Transcript NM_001347728.2 protein_coding 14/27 - - - 1553 243 81 Q/H caG/caC rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - deleterious(0.03) benign(0.007) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 10531 Transcript NM_001347729.1 protein_coding 14/27 - - - 2027 1524 508 Q/H caG/caC rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - deleterious(0.03) benign(0.003) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 10531 Transcript NM_001347730.1 protein_coding 14/25 - - - 2027 1524 508 Q/H caG/caC rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - deleterious(0.04) benign(0.01) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 10531 Transcript NM_014889.4 protein_coding 14/27 - - - 1558 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - C C - deleterious(0.03) benign(0.001) 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA 14/27 - - - 1558 - - - - rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA 14/27 - - - 1558 - - - - rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA 14/27 - - - 1558 - - - - rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA 14/27 - - - 1558 - - - - rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 10531 Transcript XM_047424445.1 protein_coding 14/17 - - - 1558 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3155664-3155664 G missense_variant MODERATE PITRM1 10531 Transcript XM_047424446.1 protein_coding 14/17 - - - 1558 1548 516 Q/H caG/caC rs3765101,COSV56528174 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - C C - - - 0.1422 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding - 10/25 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000430362.2 protein_coding - 11/14 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - 3 - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding - 10/23 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000488065.2 retained_intron - - - - - - - - - rs9423705,COSV56531808,COSV56536915 4272 -1 - HGNC HGNC:17663 - - 5 - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - 2/3 - - - - - - - rs9423705,COSV56531808,COSV56536915 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - 3/3 - - - - - - - rs9423705,COSV56531808,COSV56536915 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676719.1 retained_intron - 1/15 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding - 11/25 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay - 11/24 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined - 5/20 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron - 11/22 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding - 11/25 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay - 11/24 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding - 11/24 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding - 11/25 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron - 11/24 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay - 12/27 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678663.1 protein_coding - 11/13 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay - 12/27 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678972.1 nonsense_mediated_decay - 11/14 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron - 11/23 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay - 11/22 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay - 12/27 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 10531 Transcript NM_001242307.2 protein_coding - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 10531 Transcript NM_001242309.1 protein_coding - 10/23 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G OK - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 10531 Transcript NM_001347725.2 protein_coding - 11/24 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 10531 Transcript NM_001347726.2 protein_coding - 11/24 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 10531 Transcript NM_001347727.2 protein_coding - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 10531 Transcript NM_001347728.2 protein_coding - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 10531 Transcript NM_001347729.1 protein_coding - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 10531 Transcript NM_001347730.1 protein_coding - 11/24 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 10531 Transcript NM_014889.4 protein_coding - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA - 11/26 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 10531 Transcript XM_047424445.1 protein_coding - 11/16 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3157963-3157963 C intron_variant MODIFIER PITRM1 10531 Transcript XM_047424446.1 protein_coding - 11/16 - - - - - - - rs9423705,COSV56531808,COSV56536915 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.3888 - 0,1,1 0,1,1 19962426,28554490 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding 11/27 - - - 1200 1190 397 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - G G - deleterious(0.03) benign(0.015) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding 11/27 - - - 1259 1190 397 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - G G - deleterious(0.03) benign(0.031) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding 10/26 - - - 1058 575 192 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - G G - deleterious(0.01) benign(0.006) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000430362.2 protein_coding 11/15 - - - 1225 1190 397 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 - - 3 - - Ensembl - G G - deleterious(0.02) benign(0.04) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding 10/24 - - - 1156 1094 365 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - G G - deleterious(0.02) benign(0.157) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000488065.2 retained_intron - - - - - - - - - rs3182535 4135 -1 - HGNC HGNC:17663 - - 5 - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - 2/3 - - - - - - - rs3182535 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - 3/3 - - - - - - - rs3182535 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined 11/27 - - - 1174 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A upstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676719.1 retained_intron - - - - - - - - - rs3182535 13 -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding 11/26 - - - 1197 1190 397 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0.02) benign(0.009) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay 11/27 - - - 1273 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay 11/25 - - - 1180 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay 11/27 - - - 1745 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined 5/21 - - - 685 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant,NMD_transcript_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay 11/27 - - - 1224 1190 397 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0.02) benign(0.025) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant,NMD_transcript_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay 11/27 - - - 1224 1190 397 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0.02) benign(0.025) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron 11/23 - - - 1238 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding 11/26 - - - 1224 1190 397 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0.02) benign(0.009) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay 11/25 - - - 1735 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding 11/25 - - - 1225 1190 397 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0.02) benign(0.096) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding 11/26 - - - 1208 1190 397 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0.02) benign(0.009) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron 11/25 - - - 1224 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay 12/28 - - - 1416 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678663.1 protein_coding 11/14 - - - 1197 1190 397 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0.02) benign(0.017) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay 12/28 - - - 1413 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678972.1 nonsense_mediated_decay 11/15 - - - 1221 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron 11/24 - - - 1208 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding 11/27 - - - 1159 1142 381 A/V gCg/gTg rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - deleterious(0.02) benign(0.015) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay 11/27 - - - 2112 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay 11/23 - - - 1180 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay 12/28 - - - 1376 - - - - rs3182535 - -1 - HGNC HGNC:17663 - - - - - Ensembl - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 10531 Transcript NM_001242307.2 protein_coding 11/27 - - - 1200 1190 397 A/V gCg/gTg rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0.03) benign(0.031) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 10531 Transcript NM_001242309.1 protein_coding 10/24 - - - 1156 1094 365 A/V gCg/gTg rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G OK deleterious(0.02) benign(0.157) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 10531 Transcript NM_001347725.2 protein_coding 11/25 - - - 1200 1190 397 A/V gCg/gTg rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0.02) benign(0.096) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 10531 Transcript NM_001347726.2 protein_coding 11/25 - - - 1156 575 192 A/V gCg/gTg rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0.01) benign(0.157) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 10531 Transcript NM_001347727.2 protein_coding 11/27 - - - 1156 575 192 A/V gCg/gTg rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0.01) benign(0.006) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A 5_prime_UTR_variant MODIFIER PITRM1 10531 Transcript NM_001347728.2 protein_coding 11/27 - - - 1200 - - - - rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 10531 Transcript NM_001347729.1 protein_coding 11/27 - - - 1669 1166 389 A/V gCg/gTg rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0.03) benign(0.009) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 10531 Transcript NM_001347730.1 protein_coding 11/25 - - - 1669 1166 389 A/V gCg/gTg rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - deleterious(0.02) benign(0.096) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 10531 Transcript NM_014889.4 protein_coding 11/27 - - - 1200 1190 397 A/V gCg/gTg rs3182535 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - G G - deleterious(0.03) benign(0.015) 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA 11/27 - - - 1200 - - - - rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA 11/27 - - - 1200 - - - - rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA 11/27 - - - 1200 - - - - rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA 11/27 - - - 1200 - - - - rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 10531 Transcript XM_047424445.1 protein_coding 11/17 - - - 1200 1190 397 A/V gCg/gTg rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3158100-3158100 A missense_variant MODERATE PITRM1 10531 Transcript XM_047424446.1 protein_coding 11/17 - - - 1200 1190 397 A/V gCg/gTg rs3182535 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - G G - - - 0.6260 benign - 1 19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding 9/27 - - - 992 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - T T - tolerated(1) benign(0.003) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding 9/27 - - - 1051 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - T T - tolerated(1) benign(0.001) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding 8/26 - - - 850 367 123 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - T T - tolerated(1) benign(0) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000430362.2 protein_coding 9/15 - - - 1017 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - 3 - - Ensembl - T T - tolerated(1) benign(0.003) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding 8/24 - - - 948 886 296 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - T T - tolerated(1) benign(0) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000488065.2 retained_intron - - - - - - - - - rs4242746,COSV56527479 2362 -1 - HGNC HGNC:17663 - - 5 - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - 2/3 - - - - - - - rs4242746,COSV56527479 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - 3/3 - - - - - - - rs4242746,COSV56527479 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined 9/27 - - - 966 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C upstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676719.1 retained_intron - - - - - - - - - rs4242746,COSV56527479 1786 -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding 9/26 - - - 989 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - tolerated(1) benign(0.003) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay 9/27 - - - 1065 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay 9/25 - - - 972 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay 9/27 - - - 1537 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined 3/21 - - - 477 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant,NMD_transcript_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay 9/27 - - - 1016 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - tolerated(1) benign(0.003) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant,NMD_transcript_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay 9/27 - - - 1016 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - tolerated(1) benign(0.003) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron 9/23 - - - 1030 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding 9/26 - - - 1016 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - tolerated(1) benign(0.003) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay 9/25 - - - 1527 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding 9/25 - - - 1017 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - tolerated(1) benign(0) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding 9/26 - - - 1000 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - tolerated(1) benign(0.003) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678457.1 retained_intron - - - - - - - - - rs4242746,COSV56527479 3376 -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron 9/25 - - - 1016 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay 10/28 - - - 1208 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678663.1 protein_coding 9/14 - - - 989 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - tolerated(1) benign(0.003) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay 10/28 - - - 1205 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678972.1 nonsense_mediated_decay 9/15 - - - 1013 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron 9/24 - - - 1000 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding 9/27 - - - 951 934 312 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - tolerated(1) benign(0.003) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay 9/27 - - - 1904 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay 9/23 - - - 972 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay 10/28 - - - 1168 - - - - rs4242746,COSV56527479 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 10531 Transcript NM_001242307.2 protein_coding 9/27 - - - 992 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - tolerated(1) benign(0.001) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 10531 Transcript NM_001242309.1 protein_coding 8/24 - - - 948 886 296 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T OK tolerated(1) benign(0) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 10531 Transcript NM_001347725.2 protein_coding 9/25 - - - 992 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - tolerated(1) benign(0) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 10531 Transcript NM_001347726.2 protein_coding 9/25 - - - 948 367 123 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - tolerated(1) benign(0) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 10531 Transcript NM_001347727.2 protein_coding 9/27 - - - 948 367 123 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - tolerated(1) benign(0) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C 5_prime_UTR_variant MODIFIER PITRM1 10531 Transcript NM_001347728.2 protein_coding 9/27 - - - 992 - - - - rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 10531 Transcript NM_001347729.1 protein_coding 9/27 - - - 1461 958 320 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - tolerated(1) benign(0.003) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 10531 Transcript NM_001347730.1 protein_coding 9/25 - - - 1461 958 320 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - tolerated(1) benign(0) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 10531 Transcript NM_014889.4 protein_coding 9/27 - - - 992 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - T T - tolerated(1) benign(0.003) 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA 9/27 - - - 992 - - - - rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA 9/27 - - - 992 - - - - rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA 9/27 - - - 992 - - - - rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA 9/27 - - - 992 - - - - rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 10531 Transcript XM_047424445.1 protein_coding 9/17 - - - 992 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3159873-3159873 C missense_variant MODERATE PITRM1 10531 Transcript XM_047424446.1 protein_coding 9/17 - - - 992 982 328 I/V Atc/Gtc rs4242746,COSV56527479 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.6208 benign 0,1 1,1 16385451,19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding 7/27 - - - 691 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding 7/27 - - - 750 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding 6/26 - - - 549 66 22 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000430362.2 protein_coding 7/15 - - - 716 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - 3 - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding 6/24 - - - 647 585 195 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000488065.2 retained_intron 7/7 - - - 864 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - 2/3 - - - - - - - rs4609511,COSV56527495 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - 3/3 - - - - - - - rs4609511,COSV56527495 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined 7/27 - - - 665 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding 7/26 - - - 688 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay 7/27 - - - 699 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677181.1 retained_intron - - - - - - - - - rs4609511,COSV56527495 3832 -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay 7/25 - - - 671 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay 7/27 - - - 1236 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined 1/21 - - - 176 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay 7/27 - - - 715 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay 7/27 - - - 715 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron 7/23 - - - 729 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding 7/26 - - - 715 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay 7/25 - - - 1226 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding 7/25 - - - 716 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding 7/26 - - - 699 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678457.1 retained_intron 7/7 - - - 1084 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron 7/25 - - - 715 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay 8/28 - - - 907 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678663.1 protein_coding 7/14 - - - 688 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay 8/28 - - - 904 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678972.1 nonsense_mediated_decay 7/15 - - - 712 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron 7/24 - - - 699 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding 7/27 - - - 650 633 211 P ccT/ccC rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay 7/27 - - - 1603 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay 7/23 - - - 671 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay 8/28 - - - 867 - - - - rs4609511,COSV56527495 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 10531 Transcript NM_001242307.2 protein_coding 7/27 - - - 691 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 10531 Transcript NM_001242309.1 protein_coding 6/24 - - - 647 585 195 P ccT/ccC rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A OK - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 10531 Transcript NM_001347725.2 protein_coding 7/25 - - - 691 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 10531 Transcript NM_001347726.2 protein_coding 7/25 - - - 647 66 22 P ccT/ccC rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 10531 Transcript NM_001347727.2 protein_coding 7/27 - - - 647 66 22 P ccT/ccC rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G 5_prime_UTR_variant MODIFIER PITRM1 10531 Transcript NM_001347728.2 protein_coding 7/27 - - - 691 - - - - rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 10531 Transcript NM_001347729.1 protein_coding 7/27 - - - 1160 657 219 P ccT/ccC rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 10531 Transcript NM_001347730.1 protein_coding 7/25 - - - 1160 657 219 P ccT/ccC rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 10531 Transcript NM_014889.4 protein_coding 7/27 - - - 691 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA 7/27 - - - 691 - - - - rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA 7/27 - - - 691 - - - - rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA 7/27 - - - 691 - - - - rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA 7/27 - - - 691 - - - - rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 10531 Transcript XM_047424445.1 protein_coding 7/17 - - - 691 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3163835-3163835 G synonymous_variant LOW PITRM1 10531 Transcript XM_047424446.1 protein_coding 7/17 - - - 691 681 227 P ccT/ccC rs4609511,COSV56527495 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6242 benign 0,1 1,1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding 4/27 - - - 292 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding 4/27 - - - 351 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G 5_prime_UTR_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding 3/26 - - - 194 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000430362.2 protein_coding 4/15 - - - 317 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - 3 - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding 3/24 - - - 248 186 62 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000488065.2 retained_intron 4/7 - - - 465 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - 3/3 - - - - - - - rs12359035 - 1 - HGNC HGNC:44675 - - 5 - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G downstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000601046.5 lncRNA - - - - - - - - - rs12359035 2116 1 - HGNC HGNC:44675 - - 5 - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined 4/27 - - - 310 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding 4/26 - - - 289 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay 4/27 - - - 300 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G downstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677181.1 retained_intron - - - - - - - - - rs12359035 1302 -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay 4/25 - - - 316 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay 4/27 - - - 837 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G upstream_gene_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677598.1 protein_coding_CDS_not_defined - - - - - - - - - rs12359035 2355 -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay 4/27 - - - 316 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay 4/27 - - - 316 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron 4/23 - - - 334 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding 4/26 - - - 316 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay 4/25 - - - 827 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding 4/25 - - - 317 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding 4/26 - - - 300 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678457.1 retained_intron 4/7 - - - 729 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron 4/25 - - - 316 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay 5/28 - - - 512 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678663.1 protein_coding 4/14 - - - 289 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay 5/28 - - - 509 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678972.1 nonsense_mediated_decay 4/15 - - - 317 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G non_coding_transcript_exon_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron 4/24 - - - 300 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding 4/27 - - - 299 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay 4/27 - - - 1248 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant,NMD_transcript_variant LOW PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay 4/23 - - - 316 282 94 T acT/acC rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay 5/28 - - - 468 - - - - rs12359035 - -1 - HGNC HGNC:17663 - - - - - Ensembl - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 10531 Transcript NM_001242307.2 protein_coding 4/27 - - - 292 282 94 T acT/acC rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 10531 Transcript NM_001242309.1 protein_coding 3/24 - - - 248 186 62 T acT/acC rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A OK - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 10531 Transcript NM_001347725.2 protein_coding 4/25 - - - 292 282 94 T acT/acC rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G 5_prime_UTR_variant MODIFIER PITRM1 10531 Transcript NM_001347726.2 protein_coding 4/25 - - - 292 - - - - rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G 5_prime_UTR_variant MODIFIER PITRM1 10531 Transcript NM_001347727.2 protein_coding 4/27 - - - 292 - - - - rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G 5_prime_UTR_variant MODIFIER PITRM1 10531 Transcript NM_001347728.2 protein_coding 4/27 - - - 292 - - - - rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 10531 Transcript NM_001347729.1 protein_coding 4/27 - - - 761 258 86 T acT/acC rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 10531 Transcript NM_001347730.1 protein_coding 4/25 - - - 761 258 86 T acT/acC rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 10531 Transcript NM_014889.4 protein_coding 4/27 - - - 292 282 94 T acT/acC rs12359035 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA 4/27 - - - 292 - - - - rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA 4/27 - - - 292 - - - - rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA 4/27 - - - 292 - - - - rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G non_coding_transcript_exon_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA 4/27 - - - 292 - - - - rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 10531 Transcript XM_047424445.1 protein_coding 4/17 - - - 292 282 94 T acT/acC rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3166365-3166365 G synonymous_variant LOW PITRM1 10531 Transcript XM_047424446.1 protein_coding 4/17 - - - 292 282 94 T acT/acC rs12359035 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - A A - - - 0.6396 benign - 1 19962426 - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000224949.9 protein_coding - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 NM_014889.4 - 1 P3 - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380989.6 protein_coding - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - 1 A1 - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000380994.6 protein_coding - 1/25 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000430362.2 protein_coding - 1/14 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - 3 - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000451104.6 protein_coding - 1/23 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - 2 - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000488065.2 retained_intron - 1/6 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - 5 - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G downstream_gene_variant MODIFIER PITRM1-AS1 ENSG00000237399 Transcript ENST00000598280.5 lncRNA - - - - - - - - - rs17133560,COSV56532469 2261 1 - HGNC HGNC:44675 - - 5 - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676519.1 protein_coding_CDS_not_defined - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000676953.1 protein_coding - 1/25 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677001.1 nonsense_mediated_decay - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677181.1 retained_intron - 1/1 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677305.1 nonsense_mediated_decay - 1/24 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677384.1 nonsense_mediated_decay - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677817.1 nonsense_mediated_decay - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000677922.1 nonsense_mediated_decay - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678050.1 retained_intron - 1/22 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678370.1 protein_coding - 1/25 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678403.1 nonsense_mediated_decay - 1/24 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678436.1 protein_coding - 1/24 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678441.1 protein_coding - 1/25 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678457.1 retained_intron - 1/6 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678539.1 retained_intron - 1/24 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678601.1 nonsense_mediated_decay - 2/27 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678663.1 protein_coding - 1/13 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678855.1 nonsense_mediated_decay - 2/27 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678972.1 nonsense_mediated_decay - 1/14 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678986.1 retained_intron - 1/23 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000678987.1 protein_coding - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679134.1 nonsense_mediated_decay - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679210.1 nonsense_mediated_decay - 1/22 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,NMD_transcript_variant MODIFIER PITRM1 ENSG00000107959 Transcript ENST00000679309.1 nonsense_mediated_decay - 2/27 - - - - - - - rs17133560,COSV56532469 - -1 - HGNC HGNC:17663 - - - - - Ensembl - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001242307.2 protein_coding - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001242309.1 protein_coding - 1/23 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T OK - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347725.2 protein_coding - 1/24 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347726.2 protein_coding - 1/24 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347727.2 protein_coding - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347728.2 protein_coding - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347729.1 protein_coding - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 10531 Transcript NM_001347730.1 protein_coding - 1/24 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 10531 Transcript NM_014889.4 protein_coding - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 ENST00000224949.9 - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144638.2 misc_RNA - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144639.2 misc_RNA - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144640.2 misc_RNA - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant,non_coding_transcript_variant MODIFIER PITRM1 10531 Transcript NR_144641.2 misc_RNA - 1/26 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 10531 Transcript XM_047424445.1 protein_coding - 1/16 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3170233-3170233 G intron_variant MODIFIER PITRM1 10531 Transcript XM_047424446.1 protein_coding - 1/16 - - - - - - - rs17133560,COSV56532469 - -1 - EntrezGene HGNC:17663 - - - - - RefSeq - T T - - - 0.1374 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T intron_variant,non_coding_transcript_variant MODIFIER KLF6 ENSG00000067082 Transcript ENST00000173785.4 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs3750860,COSV51493827 - -1 - HGNC HGNC:2235 - - 2 - - Ensembl - C C - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T downstream_gene_variant MODIFIER KLF6 ENSG00000067082 Transcript ENST00000380946.3 protein_coding_CDS_not_defined - - - - - - - - - rs3750860,COSV51493827 364 -1 - HGNC HGNC:2235 - - 2 - - Ensembl - C C - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T upstream_gene_variant MODIFIER KLF6 ENSG00000067082 Transcript ENST00000461124.1 protein_coding_CDS_not_defined - - - - - - - - - rs3750860,COSV51493827 1227 -1 - HGNC HGNC:2235 - - 5 - - Ensembl - C C - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T 3_prime_UTR_variant MODIFIER KLF6 ENSG00000067082 Transcript ENST00000469435.1 protein_coding 2/2 - - - 1052 - - - - rs3750860,COSV51493827 - -1 - HGNC HGNC:2235 - - 1 - - Ensembl - C C - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T upstream_gene_variant MODIFIER KLF6 ENSG00000067082 Transcript ENST00000492125.1 protein_coding_CDS_not_defined - - - - - - - - - rs3750860,COSV51493827 948 -1 - HGNC HGNC:2235 - - 1 - - Ensembl - C C - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T intron_variant MODIFIER KLF6 ENSG00000067082 Transcript ENST00000497571.6 protein_coding - 2/3 - - - - - - - rs3750860,COSV51493827 - -1 - HGNC HGNC:2235 NM_001300.6 - 1 P1 - Ensembl - C C - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T intron_variant MODIFIER KLF6 ENSG00000067082 Transcript ENST00000542957.1 protein_coding - 2/2 - - - - - - - rs3750860,COSV51493827 - -1 - HGNC HGNC:2235 - - 5 - - Ensembl - C C - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T upstream_gene_variant MODIFIER - ENSG00000288755 Transcript ENST00000686778.1 lncRNA - - - - - - - - - rs3750860,COSV51493827 4107 1 - - - - - - - - Ensembl - C C - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T intron_variant MODIFIER KLF6 1316 Transcript NM_001160124.2 protein_coding - 2/3 - - - - - - - rs3750860,COSV51493827 - -1 - EntrezGene HGNC:2235 - - - - - RefSeq - C C - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T intron_variant MODIFIER KLF6 1316 Transcript NM_001160125.2 protein_coding - 2/2 - - - - - - - rs3750860,COSV51493827 - -1 - EntrezGene HGNC:2235 - - - - - RefSeq - C C - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T intron_variant MODIFIER KLF6 1316 Transcript NM_001300.6 protein_coding - 2/3 - - - - - - - rs3750860,COSV51493827 - -1 - EntrezGene HGNC:2235 ENST00000497571.6 - - - - RefSeq - C C - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T intron_variant,non_coding_transcript_variant MODIFIER KLF6 1316 Transcript NR_027653.2 misc_RNA - 2/3 - - - - - - - rs3750860,COSV51493827 - -1 - EntrezGene HGNC:2235 - - - - - RefSeq - C C - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000023595 promoter - - - - - - - - - rs3750860,COSV51493827 - - - - - - - - - - - - - - - - - 0.0220 - 0,1 0,1 - - - - - - . 10:3781444-3781444 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000394295 CTCF_binding_site - - - - - - - - - rs3750860,COSV51493827 - - - - - - - - - - - - - - - - - 0.0220 - 0,1 0,1 - - - - - - . 10:4968380-4968380 G synonymous_variant LOW AKR1C1 ENSG00000187134 Transcript ENST00000380859.1 protein_coding 4/6 - - - 462 447 149 T acA/acG rs1138600,COSV66498428 - 1 - HGNC HGNC:384 - - 3 - - Ensembl - A A - - - 0.9972 likely_benign 0,1 1,1 19877174 - - - - - . 10:4968380-4968380 G synonymous_variant LOW AKR1C1 ENSG00000187134 Transcript ENST00000380872.9 protein_coding 4/9 - - - 471 441 147 T acA/acG rs1138600,COSV66498428 - 1 - HGNC HGNC:384 NM_001353.6 - 1 P1 - Ensembl - A A - - - 0.9972 likely_benign 0,1 1,1 19877174 - - - - - . 10:4968380-4968380 G synonymous_variant LOW AKR1C1 ENSG00000187134 Transcript ENST00000442997.5 protein_coding 4/7 - - - 341 342 114 T acA/acG rs1138600,COSV66498428 - 1 cds_start_NF,cds_end_NF HGNC HGNC:384 - - 3 - - Ensembl - A A - - - 0.9972 likely_benign 0,1 1,1 19877174 - - - - - . 10:4968380-4968380 G downstream_gene_variant MODIFIER AKR1C1 ENSG00000187134 Transcript ENST00000476100.1 protein_coding_CDS_not_defined - - - - - - - - - rs1138600,COSV66498428 1332 1 - HGNC HGNC:384 - - 2 - - Ensembl - A A - - - 0.9972 likely_benign 0,1 1,1 19877174 - - - - - . 10:4968380-4968380 G non_coding_transcript_exon_variant MODIFIER AKR1C1 ENSG00000187134 Transcript ENST00000477661.1 protein_coding_CDS_not_defined 3/8 - - - 1898 - - - - rs1138600,COSV66498428 - 1 - HGNC HGNC:384 - - 5 - - Ensembl - A A - - - 0.9972 likely_benign 0,1 1,1 19877174 - - - - - . 10:4968380-4968380 G synonymous_variant LOW AKR1C1 1645 Transcript NM_001353.6 protein_coding 4/9 - - - 471 441 147 T acA/acG rs1138600,COSV66498428 - 1 - EntrezGene HGNC:384 ENST00000380872.9 - - - - RefSeq - A A - - - 0.9972 likely_benign 0,1 1,1 19877174 - - - - - . 10:4968380-4968380 G downstream_gene_variant MODIFIER LOC124902365 124902365 Transcript XR_007062038.1 lncRNA - - - - - - - - - rs1138600,COSV66498428 1433 -1 - EntrezGene - - - - - - RefSeq - A A - - - 0.9972 likely_benign 0,1 1,1 19877174 - - - - - . 10:4999206-4999206 C synonymous_variant LOW AKR1C2 ENSG00000151632 Transcript ENST00000380753.9 protein_coding 4/9 - - - 463 441 147 T acA/acG rs3207909,COSV66332774 - -1 - HGNC HGNC:385 NM_001393392.1 - 1 P1 - Ensembl - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C intron_variant MODIFIER AKR1C2 ENSG00000151632 Transcript ENST00000421196.7 protein_coding - 3/7 - - - - - - - rs3207909,COSV66332774 - -1 - HGNC HGNC:385 - - 1 - - Ensembl - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C downstream_gene_variant MODIFIER - ENSG00000224251 Transcript ENST00000440414.1 lncRNA - - - - - - - - - rs3207909,COSV66332774 1826 1 - - - - - 3 - - Ensembl - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C downstream_gene_variant MODIFIER - ENSG00000224251 Transcript ENST00000451575.6 lncRNA - - - - - - - - - rs3207909,COSV66332774 1832 1 - - - - - 3 - - Ensembl - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C downstream_gene_variant MODIFIER AKR1C2 ENSG00000151632 Transcript ENST00000455190.2 protein_coding - - - - - - - - - rs3207909,COSV66332774 705 -1 - HGNC HGNC:385 - - 2 - - Ensembl - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C non_coding_transcript_exon_variant MODIFIER AKR1C2 ENSG00000151632 Transcript ENST00000460124.5 retained_intron 3/8 - - - 1901 - - - - rs3207909,COSV66332774 - -1 - HGNC HGNC:385 - - 5 - - Ensembl - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C downstream_gene_variant MODIFIER AKR1C2 ENSG00000151632 Transcript ENST00000604184.1 protein_coding_CDS_not_defined - - - - - - - - - rs3207909,COSV66332774 1097 -1 - HGNC HGNC:385 - - 2 - - Ensembl - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C synonymous_variant LOW AKR1C2 ENSG00000151632 Transcript ENST00000604507.5 protein_coding 5/7 - - - 584 441 147 T acA/acG rs3207909,COSV66332774 - -1 cds_end_NF HGNC HGNC:385 - - 5 - - Ensembl - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C downstream_gene_variant MODIFIER AKR1C2 1646 Transcript NM_001135241.3 protein_coding - - - - - - - - - rs3207909,COSV66332774 705 -1 - EntrezGene HGNC:385 - - - - - RefSeq - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C intron_variant MODIFIER AKR1C2 1646 Transcript NM_001321027.2 protein_coding - 3/7 - - - - - - - rs3207909,COSV66332774 - -1 - EntrezGene HGNC:385 - - - - - RefSeq - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C synonymous_variant LOW AKR1C2 1646 Transcript NM_001354.6 protein_coding 6/11 - - - 821 441 147 T acA/acG rs3207909,COSV66332774 - -1 - EntrezGene HGNC:385 - - - - - RefSeq - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C synonymous_variant LOW AKR1C2 1646 Transcript NM_001393392.1 protein_coding 4/9 - - - 463 441 147 T acA/acG rs3207909,COSV66332774 - -1 - EntrezGene HGNC:385 ENST00000380753.9 - - - - RefSeq - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C synonymous_variant LOW AKR1C2 1646 Transcript NM_205845.3 protein_coding 5/10 - - - 721 441 147 T acA/acG rs3207909,COSV66332774 - -1 - EntrezGene HGNC:385 - - - - - RefSeq - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C synonymous_variant LOW AKR1C2 1646 Transcript XM_047424682.1 protein_coding 7/12 - - - 904 441 147 T acA/acG rs3207909,COSV66332774 - -1 - EntrezGene HGNC:385 - - - - - RefSeq - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C synonymous_variant LOW AKR1C2 1646 Transcript XM_047424683.1 protein_coding 8/13 - - - 1214 441 147 T acA/acG rs3207909,COSV66332774 - -1 - EntrezGene HGNC:385 - - - - - RefSeq - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:4999206-4999206 C non_coding_transcript_exon_variant MODIFIER LOC101928051 101928051 Transcript XR_001747340.2 lncRNA 2/2 - - - 2305 - - - - rs3207909,COSV66332774 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - benign 0,1 1,1 25741868,19846565 - - - - - . 10:5003670-5003670 G intron_variant MODIFIER AKR1C2 ENSG00000151632 Transcript ENST00000380753.9 protein_coding - 1/8 - - - - - - - rs11252876,COSV66332927 - -1 - HGNC HGNC:385 NM_001393392.1 - 1 P1 - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G intron_variant MODIFIER AKR1C2 ENSG00000151632 Transcript ENST00000421196.7 protein_coding - 1/7 - - - - - - - rs11252876,COSV66332927 - -1 - HGNC HGNC:385 - - 1 - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G intron_variant MODIFIER AKR1C2 ENSG00000151632 Transcript ENST00000455190.2 protein_coding - 1/3 - - - - - - - rs11252876,COSV66332927 - -1 - HGNC HGNC:385 - - 2 - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G upstream_gene_variant MODIFIER U8 ENSG00000239148 Transcript ENST00000459141.1 snoRNA - - - - - - - - - rs11252876,COSV66332927 1040 1 - RFAM - - - - - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G intron_variant,non_coding_transcript_variant MODIFIER AKR1C2 ENSG00000151632 Transcript ENST00000460124.5 retained_intron - 1/7 - - - - - - - rs11252876,COSV66332927 - -1 - HGNC HGNC:385 - - 5 - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G intron_variant,non_coding_transcript_variant MODIFIER AKR1C2 ENSG00000151632 Transcript ENST00000604184.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs11252876,COSV66332927 - -1 - HGNC HGNC:385 - - 2 - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G downstream_gene_variant MODIFIER AKR1C2 ENSG00000151632 Transcript ENST00000604428.5 protein_coding_CDS_not_defined - - - - - - - - - rs11252876,COSV66332927 2325 -1 - HGNC HGNC:385 - - 3 - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G intron_variant MODIFIER AKR1C2 ENSG00000151632 Transcript ENST00000604507.5 protein_coding - 2/6 - - - - - - - rs11252876,COSV66332927 - -1 cds_end_NF HGNC HGNC:385 - - 5 - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G downstream_gene_variant MODIFIER AKR1C2 ENSG00000151632 Transcript ENST00000604711.1 protein_coding_CDS_not_defined - - - - - - - - - rs11252876,COSV66332927 2792 -1 - HGNC HGNC:385 - - 4 - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G intron_variant MODIFIER AKR1C2 1646 Transcript NM_001135241.3 protein_coding - 1/3 - - - - - - - rs11252876,COSV66332927 - -1 - EntrezGene HGNC:385 - - - - - RefSeq - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G intron_variant MODIFIER AKR1C2 1646 Transcript NM_001321027.2 protein_coding - 1/7 - - - - - - - rs11252876,COSV66332927 - -1 - EntrezGene HGNC:385 - - - - - RefSeq - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G intron_variant MODIFIER AKR1C2 1646 Transcript NM_001354.6 protein_coding - 3/10 - - - - - - - rs11252876,COSV66332927 - -1 - EntrezGene HGNC:385 - - - - - RefSeq - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G intron_variant MODIFIER AKR1C2 1646 Transcript NM_001393392.1 protein_coding - 1/8 - - - - - - - rs11252876,COSV66332927 - -1 - EntrezGene HGNC:385 ENST00000380753.9 - - - - RefSeq - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G intron_variant MODIFIER AKR1C2 1646 Transcript NM_205845.3 protein_coding - 2/9 - - - - - - - rs11252876,COSV66332927 - -1 - EntrezGene HGNC:385 - - - - - RefSeq - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G intron_variant MODIFIER AKR1C2 1646 Transcript XM_047424682.1 protein_coding - 4/11 - - - - - - - rs11252876,COSV66332927 - -1 - EntrezGene HGNC:385 - - - - - RefSeq - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G intron_variant MODIFIER AKR1C2 1646 Transcript XM_047424683.1 protein_coding - 5/12 - - - - - - - rs11252876,COSV66332927 - -1 - EntrezGene HGNC:385 - - - - - RefSeq - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G downstream_gene_variant MODIFIER LOC101928051 101928051 Transcript XR_001747340.2 lncRNA - - - - - - - - - rs11252876,COSV66332927 4153 1 - EntrezGene - - - - - - RefSeq - A A - - - - benign 0,1 1,1 - - - - - - . 10:5003670-5003670 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000023787 promoter - - - - - - - - - rs11252876,COSV66332927 - - - - - - - - - - - - - - - - - - benign 0,1 1,1 - - - - - - . 10:5094459-5094459 G missense_variant MODERATE AKR1C3 ENSG00000196139 Transcript ENST00000380554.5 protein_coding 1/9 - - - 46 15 5 H/Q caC/caG rs12529,CM045656,COSV65910253 - 1 - HGNC HGNC:386 NM_003739.6 - 1 P4 - Ensembl - C C - tolerated_low_confidence(0.41) benign(0) 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G intron_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000439082.7 protein_coding - 1/8 - - - - - - - rs12529,CM045656,COSV65910253 - 1 - HGNC HGNC:386 - - 5 A1 - Ensembl - C C - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G upstream_gene_variant MODIFIER U8 ENSG00000239142 Transcript ENST00000459536.1 snoRNA - - - - - - - - - rs12529,CM045656,COSV65910253 916 -1 - RFAM - - - - - - Ensembl - C C - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G intron_variant,non_coding_transcript_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000470862.6 protein_coding_CDS_not_defined - 4/5 - - - - - - - rs12529,CM045656,COSV65910253 - 1 - HGNC HGNC:386 - - 5 - - Ensembl - C C - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G non_coding_transcript_exon_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000480697.6 retained_intron 1/3 - - - 46 - - - - rs12529,CM045656,COSV65910253 - 1 - HGNC HGNC:386 - - 1 - - Ensembl - C C - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G intron_variant,non_coding_transcript_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000480822.5 protein_coding_CDS_not_defined - 3/4 - - - - - - - rs12529,CM045656,COSV65910253 - 1 - HGNC HGNC:386 - - 5 - - Ensembl - C C - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G intron_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000602997.5 protein_coding - 2/5 - - - - - - - rs12529,CM045656,COSV65910253 - 1 cds_end_NF HGNC HGNC:386 - - 3 - - Ensembl - C C - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G upstream_gene_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000603312.1 retained_intron - - - - - - - - - rs12529,CM045656,COSV65910253 1686 1 - HGNC HGNC:386 - - 2 - - Ensembl - C C - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G intron_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000605149.5 protein_coding - 1/8 - - - - - - - rs12529,CM045656,COSV65910253 - 1 - HGNC HGNC:386 - - 2 - - Ensembl - C C - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G non_coding_transcript_exon_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000605322.1 retained_intron 1/3 - - - 42 - - - - rs12529,CM045656,COSV65910253 - 1 - HGNC HGNC:386 - - 1 - - Ensembl - C C - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G intron_variant,non_coding_transcript_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000605781.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs12529,CM045656,COSV65910253 - 1 - HGNC HGNC:386 - - 3 - - Ensembl - C C - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G intron_variant MODIFIER AKR1C3 8644 Transcript NM_001253908.2 protein_coding - 1/8 - - - - - - - rs12529,CM045656,COSV65910253 - 1 - EntrezGene HGNC:386 - - - - - RefSeq - C C - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G missense_variant MODERATE AKR1C3 8644 Transcript NM_001253909.2 protein_coding 1/3 - - - 46 15 5 H/Q caC/caG rs12529,CM045656,COSV65910253 - 1 - EntrezGene HGNC:386 - - - - - RefSeq - C C - tolerated_low_confidence(0.4) benign(0.003) 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G missense_variant MODERATE AKR1C3 8644 Transcript NM_003739.6 protein_coding 1/9 - - - 46 15 5 H/Q caC/caG rs12529,CM045656,COSV65910253 - 1 - EntrezGene HGNC:386 ENST00000380554.5 - - - - RefSeq - C C - tolerated_low_confidence(0.41) benign(0) 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G upstream_gene_variant MODIFIER LOC124900291 124900291 Transcript XR_007062398.1 snoRNA - - - - - - - - - rs12529,CM045656,COSV65910253 916 -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5094459-5094459 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000023808 promoter - - - - - - - - - rs12529,CM045656,COSV65910253 - - - - - - - - - - - - - - - - - 0.5797 - 0,0,1 0,1,1 15911586,18632753,29303622,18339682,19423521,26250693,29920655,31861307,30870275,21323680,24838369,17940109,25422294,27085562,27485119,28704416,31125365,23359804,28246133,25703505,29670770,29877607,24770626,24986825,19027824,17583494,19460435,19230916,32712140,27111237,32583532,33997443,34563259,32346335,29920533,33942799,32407811,34997089,35600302,35582223,29797257,36768194 - - - - - . 10:5097493-5097493 A synonymous_variant LOW AKR1C3 ENSG00000196139 Transcript ENST00000380554.5 protein_coding 3/9 - - - 343 312 104 K aaG/aaA rs12387,CM167867 - 1 - HGNC HGNC:386 NM_003739.6 - 1 P4 - Ensembl - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A synonymous_variant LOW AKR1C3 ENSG00000196139 Transcript ENST00000439082.7 protein_coding 3/9 - - - 312 312 104 K aaG/aaA rs12387,CM167867 - 1 - HGNC HGNC:386 - - 5 A1 - Ensembl - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A upstream_gene_variant MODIFIER U8 ENSG00000239142 Transcript ENST00000459536.1 snoRNA - - - - - - - - - rs12387,CM167867 3950 -1 - RFAM - - - - - - Ensembl - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A non_coding_transcript_exon_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000470862.6 protein_coding_CDS_not_defined 6/6 - - - 956 - - - - rs12387,CM167867 - 1 - HGNC HGNC:386 - - 5 - - Ensembl - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A non_coding_transcript_exon_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000480697.6 retained_intron 3/3 - - - 343 - - - - rs12387,CM167867 - 1 - HGNC HGNC:386 - - 1 - - Ensembl - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A non_coding_transcript_exon_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000480822.5 protein_coding_CDS_not_defined 5/5 - - - 751 - - - - rs12387,CM167867 - 1 - HGNC HGNC:386 - - 5 - - Ensembl - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A synonymous_variant LOW AKR1C3 ENSG00000196139 Transcript ENST00000602997.5 protein_coding 4/6 - - - 413 243 81 K aaG/aaA rs12387,CM167867 - 1 cds_end_NF HGNC HGNC:386 - - 3 - - Ensembl - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A non_coding_transcript_exon_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000603312.1 retained_intron 2/2 - - - 493 - - - - rs12387,CM167867 - 1 - HGNC HGNC:386 - - 2 - - Ensembl - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A synonymous_variant LOW AKR1C3 ENSG00000196139 Transcript ENST00000605149.5 protein_coding 3/9 - - - 568 243 81 K aaG/aaA rs12387,CM167867 - 1 - HGNC HGNC:386 - - 2 - - Ensembl - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A intron_variant,non_coding_transcript_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000605322.1 retained_intron - 2/2 - - - - - - - rs12387,CM167867 - 1 - HGNC HGNC:386 - - 1 - - Ensembl - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A non_coding_transcript_exon_variant MODIFIER AKR1C3 ENSG00000196139 Transcript ENST00000605781.5 protein_coding_CDS_not_defined 3/6 - - - 491 - - - - rs12387,CM167867 - 1 - HGNC HGNC:386 - - 3 - - Ensembl - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A synonymous_variant LOW AKR1C3 8644 Transcript NM_001253908.2 protein_coding 3/9 - - - 343 312 104 K aaG/aaA rs12387,CM167867 - 1 - EntrezGene HGNC:386 - - - - - RefSeq - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A synonymous_variant LOW AKR1C3 8644 Transcript NM_001253909.2 protein_coding 3/3 - - - 343 312 104 K aaG/aaA rs12387,CM167867 - 1 - EntrezGene HGNC:386 - - - - - RefSeq - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A synonymous_variant LOW AKR1C3 8644 Transcript NM_003739.6 protein_coding 3/9 - - - 343 312 104 K aaG/aaA rs12387,CM167867 - 1 - EntrezGene HGNC:386 ENST00000380554.5 - - - - RefSeq - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A upstream_gene_variant MODIFIER LOC124900291 124900291 Transcript XR_007062398.1 snoRNA - - - - - - - - - rs12387,CM167867 3950 -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5097493-5097493 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000023808 promoter - - - - - - - - - rs12387,CM167867 - - - - - - - - - - - - - - - - - 0.8482 - - 0,1 18632753,19846565,24986825,17583494,19460435,34351578,27111237,32583532,35582223,36768194 - - - - - . 10:5200383-5200383 A intron_variant MODIFIER AKR1C4 ENSG00000198610 Transcript ENST00000263126.3 protein_coding - 2/8 - - - - - - - rs7099651,COSV54122367 - 1 - HGNC HGNC:387 NM_001818.5 - 1 P1 - Ensembl - G G - - - 0.9752 - 0,1 0,1 - - - - - - . 10:5200383-5200383 A intron_variant MODIFIER AKR1C4 ENSG00000198610 Transcript ENST00000380448.5 protein_coding - 4/10 - - - - - - - rs7099651,COSV54122367 - 1 - HGNC HGNC:387 - - 5 P1 - Ensembl - G G - - - 0.9752 - 0,1 0,1 - - - - - - . 10:5200383-5200383 A downstream_gene_variant MODIFIER AKR1C4 ENSG00000198610 Transcript ENST00000469875.2 retained_intron - - - - - - - - - rs7099651,COSV54122367 3461 1 - HGNC HGNC:387 - - 2 - - Ensembl - G G - - - 0.9752 - 0,1 0,1 - - - - - - . 10:5200383-5200383 A intron_variant MODIFIER AKR1C4 1109 Transcript NM_001818.5 protein_coding - 2/8 - - - - - - - rs7099651,COSV54122367 - 1 - EntrezGene HGNC:387 ENST00000263126.3 - - - - RefSeq - G G - - - 0.9752 - 0,1 0,1 - - - - - - . 10:5204707-5204707 C intron_variant MODIFIER AKR1C4 ENSG00000198610 Transcript ENST00000263126.3 protein_coding - 3/8 - - - - - - - rs1413781 - 1 - HGNC HGNC:387 NM_001818.5 - 1 P1 - Ensembl - A A - - - 0.7911 - - - - - - - - - . 10:5204707-5204707 C intron_variant MODIFIER AKR1C4 ENSG00000198610 Transcript ENST00000380448.5 protein_coding - 5/10 - - - - - - - rs1413781 - 1 - HGNC HGNC:387 - - 5 P1 - Ensembl - A A - - - 0.7911 - - - - - - - - - . 10:5204707-5204707 C upstream_gene_variant MODIFIER ARL4AP3 ENSG00000228291 Transcript ENST00000441452.1 processed_pseudogene - - - - - - - - - rs1413781 2462 1 - HGNC HGNC:52372 - - - - - Ensembl - A A - - - 0.7911 - - - - - - - - - . 10:5204707-5204707 C intron_variant MODIFIER AKR1C4 1109 Transcript NM_001818.5 protein_coding - 3/8 - - - - - - - rs1413781 - 1 - EntrezGene HGNC:387 ENST00000263126.3 - - - - RefSeq - A A - - - 0.7911 - - - - - - - - - . 10:5429237-5429237 T splice_region_variant,intron_variant LOW NET1 ENSG00000173848 Transcript ENST00000355029.9 protein_coding - 3/11 - - - - - - - rs4604777,COSV104421793 - 1 - HGNC HGNC:14592 NM_001047160.3 - 1 - - Ensembl - C C - - - 0.9503 - 0,1 0,1 - - - - - - . 10:5429237-5429237 T splice_region_variant,intron_variant LOW NET1 10276 Transcript NM_001047160.3 protein_coding - 3/11 - - - - - - - rs4604777,COSV104421793 - 1 - EntrezGene HGNC:14592 ENST00000355029.9 - - - - RefSeq - C C - - - 0.9503 - 0,1 0,1 - - - - - - . 10:5453255-5453255 C synonymous_variant LOW NET1 ENSG00000173848 Transcript ENST00000355029.9 protein_coding 7/12 - - - 736 600 200 Y taT/taC rs4567355 - 1 - HGNC HGNC:14592 NM_001047160.3 - 1 - - Ensembl - T T - - - 0.9766 - - - - - - - - - . 10:5453255-5453255 C synonymous_variant LOW NET1 ENSG00000173848 Transcript ENST00000380359.3 protein_coding 5/10 - - - 593 438 146 Y taT/taC rs4567355 - 1 - HGNC HGNC:14592 - - 1 P1 - Ensembl - T T - - - 0.9766 - - - - - - - - - . 10:5453255-5453255 C intron_variant MODIFIER NET1 ENSG00000173848 Transcript ENST00000449083.5 protein_coding - 1/3 - - - - - - - rs4567355 - 1 cds_end_NF HGNC HGNC:14592 - - 5 - - Ensembl - T T - - - 0.9766 - - - - - - - - - . 10:5453255-5453255 C downstream_gene_variant MODIFIER NET1 ENSG00000173848 Transcript ENST00000465087.1 protein_coding_CDS_not_defined - - - - - - - - - rs4567355 102 1 - HGNC HGNC:14592 - - 3 - - Ensembl - T T - - - 0.9766 - - - - - - - - - . 10:5453255-5453255 C upstream_gene_variant MODIFIER NET1 ENSG00000173848 Transcript ENST00000484741.1 protein_coding_CDS_not_defined - - - - - - - - - rs4567355 1126 1 - HGNC HGNC:14592 - - 2 - - Ensembl - T T - - - 0.9766 - - - - - - - - - . 10:5453255-5453255 C downstream_gene_variant MODIFIER NET1 ENSG00000173848 Transcript ENST00000486354.1 protein_coding_CDS_not_defined - - - - - - - - - rs4567355 358 1 - HGNC HGNC:14592 - - 3 - - Ensembl - T T - - - 0.9766 - - - - - - - - - . 10:5453255-5453255 C synonymous_variant LOW NET1 10276 Transcript NM_001047160.3 protein_coding 7/12 - - - 736 600 200 Y taT/taC rs4567355 - 1 - EntrezGene HGNC:14592 ENST00000355029.9 - - - - RefSeq - T T - - - 0.9766 - - - - - - - - - . 10:5453255-5453255 C synonymous_variant LOW NET1 10276 Transcript NM_005863.5 protein_coding 5/10 - - - 595 438 146 Y taT/taC rs4567355 - 1 - EntrezGene HGNC:14592 - - - - - RefSeq - T T - - - 0.9766 - - - - - - - - - . 10:5453255-5453255 C non_coding_transcript_exon_variant MODIFIER NET1 10276 Transcript NR_073040.1 misc_RNA 5/10 - - - 686 - - - - rs4567355 - 1 - EntrezGene HGNC:14592 - - - - - RefSeq - T C OK - - 0.9766 - - - - - - - - - . 10:5453255-5453255 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000394665 open_chromatin_region - - - - - - - - - rs4567355 - - - - - - - - - - - - - - - - - 0.9766 - - - - - - - - - . 10:5516182-5516183 C downstream_gene_variant MODIFIER CALML3-AS1 ENSG00000205488 Transcript ENST00000542093.5 lncRNA - - - - - - - - - rs5782832 1097 -1 - HGNC HGNC:44682 - - 4 - - Ensembl - - - - - - 0.6414 - - - - - - - - - . 10:5516182-5516183 C non_coding_transcript_exon_variant MODIFIER CALML3-AS1 ENSG00000205488 Transcript ENST00000543008.2 lncRNA 2/2 - - - 2591-2592 - - - - rs5782832 - -1 - HGNC HGNC:44682 - - 5 - - Ensembl - - - - - - 0.6414 - - - - - - - - - . 10:5516182-5516183 C downstream_gene_variant MODIFIER CALML3-AS1 ENSG00000205488 Transcript ENST00000545372.1 lncRNA - - - - - - - - - rs5782832 1185 -1 - HGNC HGNC:44682 - - 4 - - Ensembl - - - - - - 0.6414 - - - - - - - - - . 10:5516182-5516183 C downstream_gene_variant MODIFIER CALML3-AS1 ENSG00000205488 Transcript ENST00000651240.1 lncRNA - - - - - - - - - rs5782832 862 -1 - HGNC HGNC:44682 - - - - - Ensembl - - - - - - 0.6414 - - - - - - - - - . 10:5516182-5516183 C non_coding_transcript_exon_variant MODIFIER CALML3-AS1 100132159 Transcript NR_120496.1 lncRNA 4/4 - - - 1769-1770 - - - - rs5782832 - -1 - EntrezGene HGNC:44682 - - - - - RefSeq - - - - - - 0.6414 - - - - - - - - - . 10:5516182-5516183 C non_coding_transcript_exon_variant MODIFIER CALML3-AS1 100132159 Transcript NR_120497.1 lncRNA 3/3 - - - 1657-1658 - - - - rs5782832 - -1 - EntrezGene HGNC:44682 - - - - - RefSeq - - - - - - 0.6414 - - - - - - - - - . 10:5516182-5516183 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000940712 enhancer - - - - - - - - - rs5782832 - - - - - - - - - - - - - - - - - 0.6414 - - - - - - - - - . 10:5516182-5516183 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00202595399 - - - - - - - - - - rs5782832 - 1 - - - - - - - - - - - - - - - 0.6414 - - - - ENSPFM0403 19 N - MYBL1::MAX . 10:5516182-5516183 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00525269601 - - - - - - - - - - rs5782832 - 1 - - - - - - - - - - - - - - - 0.6414 - - - - ENSPFM0598 13 N - TFAP2C::MAX . 10:5516182-5516183 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00201897337 - - - - - - - - - - rs5782832 - -1 - - - - - - - - - - - - - - - 0.6414 - - - - ENSPFM0564 18 N - TEAD4::MAX . 10:5516182-5516183 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00203488427 - - - - - - - - - - rs5782832 - -1 - - - - - - - - - - - - - - - 0.6414 - - - - ENSPFM0566 13 N - TEAD4::MAX . 10:5516182-5516183 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00201745085 - - - - - - - - - - rs5782832 - 1 - - - - - - - - - - - - - - - 0.6414 - - - - ENSPFM0401 3 N - MYBL1::MAX . 10:5516182-5516183 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00203305669 - - - - - - - - - - rs5782832 - 1 - - - - - - - - - - - - - - - 0.6414 - - - - ENSPFM0605 16 N - TFAP4::MAX . 10:5516182-5516183 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00202750723 - - - - - - - - - - rs5782832 - 1 - - - - - - - - - - - - - - - 0.6414 - - - - ENSPFM0565 16 N - TEAD4::MAX . 10:5516182-5516183 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00202565608 - - - - - - - - - - rs5782832 - -1 - - - - - - - - - - - - - - - 0.6414 - - - - ENSPFM0238 7 N - GCM1::MAX . 10:5516182-5516183 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00202636802 - - - - - - - - - - rs5782832 - 1 - - - - - - - - - - - - - - - 0.6414 - - - - ENSPFM0240 2 N - GCM1::MAX . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000328090.9 protein_coding - 6/20 - - - - - - - rs3793708 - 1 - HGNC HGNC:23484 - - 1 - - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000226647 Transcript ENST00000411512.2 lncRNA - 1/1 - - - - - - - rs3793708 - -1 - - - - - 3 - - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T downstream_gene_variant MODIFIER TASOR2 ENSG00000108021 Transcript ENST00000480839.6 protein_coding_CDS_not_defined - - - - - - - - - rs3793708 3063 1 - HGNC HGNC:23484 - - 3 - - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T downstream_gene_variant MODIFIER TASOR2 ENSG00000108021 Transcript ENST00000496681.5 protein_coding - - - - - - - - - rs3793708 3006 1 cds_end_NF HGNC HGNC:23484 - - 3 - - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T upstream_gene_variant MODIFIER TASOR2 ENSG00000108021 Transcript ENST00000532080.1 retained_intron - - - - - - - - - rs3793708 3152 1 - HGNC HGNC:23484 - - 2 - - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000645567.1 protein_coding - 9/23 - - - - - - - rs3793708 - 1 - HGNC HGNC:23484 - - - - - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000695737.1 protein_coding - 7/21 - - - - - - - rs3793708 - 1 - HGNC HGNC:23484 NM_001321783.2 - - - - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000695832.1 protein_coding - 5/19 - - - - - - - rs3793708 - 1 - HGNC HGNC:23484 - - - - - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000695833.1 protein_coding - 7/20 - - - - - - - rs3793708 - 1 - HGNC HGNC:23484 - - - - - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000695834.1 protein_coding - 7/21 - - - - - - - rs3793708 - 1 - HGNC HGNC:23484 - - - - - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000695835.1 protein_coding - 8/20 - - - - - - - rs3793708 - 1 - HGNC HGNC:23484 - - - - - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000695836.1 nonsense_mediated_decay - 9/21 - - - - - - - rs3793708 - 1 - HGNC HGNC:23484 - - - - - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000699050.1 protein_coding - 9/23 - - - - - - - rs3793708 - 1 - HGNC HGNC:23484 - - - A2 - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000699051.1 protein_coding - 10/24 - - - - - - - rs3793708 - 1 - HGNC HGNC:23484 - - - P2 - Ensembl - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 54906 Transcript NM_001321783.2 protein_coding - 7/21 - - - - - - - rs3793708 - 1 - EntrezGene HGNC:23484 ENST00000695737.1 - - - - RefSeq - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 54906 Transcript NM_001321784.2 protein_coding - 7/21 - - - - - - - rs3793708 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 54906 Transcript NM_001321785.2 protein_coding - 7/20 - - - - - - - rs3793708 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 54906 Transcript NM_001387328.1 protein_coding - 9/23 - - - - - - - rs3793708 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - C C - - - 0.1559 - - - - - - - - - . 10:5723674-5723674 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TASOR2 54906 Transcript NM_017782.5 protein_coding - 6/20 - - - - - - - rs3793708 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - C C - - - 0.1559 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000328090.9 protein_coding 13/21 - - - 2461 1836 612 T acA/acT rs2797486 - 1 - HGNC HGNC:23484 - - 1 - - Ensembl - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T downstream_gene_variant MODIFIER TASOR2 ENSG00000108021 Transcript ENST00000380270.3 protein_coding_CDS_not_defined - - - - - - - - - rs2797486 193 1 - HGNC HGNC:23484 - - 3 - - Ensembl - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000226647 Transcript ENST00000411512.2 lncRNA - 1/1 - - - - - - - rs2797486 - -1 - - - - - 3 - - Ensembl - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000645567.1 protein_coding 16/24 - - - 2579 2481 827 T acA/acT rs2797486 - 1 - HGNC HGNC:23484 - - - - - Ensembl - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000695737.1 protein_coding 14/22 - - - 2534 1836 612 T acA/acT rs2797486 - 1 - HGNC HGNC:23484 NM_001321783.2 - - - - Ensembl - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000695832.1 protein_coding 12/20 - - - 2472 2088 696 T acA/acT rs2797486 - 1 - HGNC HGNC:23484 - - - - - Ensembl - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000695833.1 protein_coding 13/21 - - - 2291 1593 531 T acA/acT rs2797486 - 1 - HGNC HGNC:23484 - - - - - Ensembl - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000695834.1 protein_coding 14/22 - - - 2580 1836 612 T acA/acT rs2797486 - 1 - HGNC HGNC:23484 - - - - - Ensembl - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000695835.1 protein_coding 14/21 - - - 2427 2160 720 T acA/acT rs2797486 - 1 - HGNC HGNC:23484 - - - - - Ensembl - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TASOR2 ENSG00000108021 Transcript ENST00000695836.1 nonsense_mediated_decay 16/22 - - - 2783 - - - - rs2797486 - 1 - HGNC HGNC:23484 - - - - - Ensembl - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000699050.1 protein_coding 16/24 - - - 2811 2541 847 T acA/acT rs2797486 - 1 - HGNC HGNC:23484 - - - A2 - Ensembl - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 ENSG00000108021 Transcript ENST00000699051.1 protein_coding 17/25 - - - 2713 2619 873 T acA/acT rs2797486 - 1 - HGNC HGNC:23484 - - - P2 - Ensembl - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 54906 Transcript NM_001321783.2 protein_coding 14/22 - - - 2534 1836 612 T acA/acT rs2797486 - 1 - EntrezGene HGNC:23484 ENST00000695737.1 - - - - RefSeq - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 54906 Transcript NM_001321784.2 protein_coding 14/22 - - - 2580 1836 612 T acA/acT rs2797486 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 54906 Transcript NM_001321785.2 protein_coding 13/21 - - - 2291 1593 531 T acA/acT rs2797486 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 54906 Transcript NM_001387328.1 protein_coding 16/24 - - - 2597 2481 827 T acA/acT rs2797486 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - A A - - - 0.8371 - - - - - - - - - . 10:5740006-5740006 T synonymous_variant LOW TASOR2 54906 Transcript NM_017782.5 protein_coding 13/21 - - - 2461 1836 612 T acA/acT rs2797486 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - A A - - - 0.8371 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000328090.9 protein_coding 15/21 - - - 3849 3224 1075 R/P cGt/cCt rs2797491 - 1 - HGNC HGNC:23484 - - 1 - - Ensembl - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5746645-5746645 C upstream_gene_variant MODIFIER - ENSG00000226647 Transcript ENST00000411512.2 lncRNA - - - - - - - - - rs2797491 2578 -1 - - - - - 3 - - Ensembl - G G - - - 0.8361 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000645567.1 protein_coding 18/24 - - - 3967 3869 1290 R/P cGt/cCt rs2797491 - 1 - HGNC HGNC:23484 - - - - - Ensembl - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000695737.1 protein_coding 16/22 - - - 3922 3224 1075 R/P cGt/cCt rs2797491 - 1 - HGNC HGNC:23484 NM_001321783.2 - - - - Ensembl - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000695832.1 protein_coding 14/20 - - - 3860 3476 1159 R/P cGt/cCt rs2797491 - 1 - HGNC HGNC:23484 - - - - - Ensembl - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000695833.1 protein_coding 15/21 - - - 3679 2981 994 R/P cGt/cCt rs2797491 - 1 - HGNC HGNC:23484 - - - - - Ensembl - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000695834.1 protein_coding 16/22 - - - 3968 3224 1075 R/P cGt/cCt rs2797491 - 1 - HGNC HGNC:23484 - - - - - Ensembl - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5746645-5746645 C intron_variant MODIFIER TASOR2 ENSG00000108021 Transcript ENST00000695835.1 protein_coding - 15/20 - - - - - - - rs2797491 - 1 - HGNC HGNC:23484 - - - - - Ensembl - G G - - - 0.8361 - - - - - - - - - . 10:5746645-5746645 C intron_variant,NMD_transcript_variant MODIFIER TASOR2 ENSG00000108021 Transcript ENST00000695836.1 nonsense_mediated_decay - 16/21 - - - - - - - rs2797491 - 1 - HGNC HGNC:23484 - - - - - Ensembl - G G - - - 0.8361 - - - - - - - - - . 10:5746645-5746645 C upstream_gene_variant MODIFIER TASOR2 ENSG00000108021 Transcript ENST00000695837.1 nonsense_mediated_decay - - - - - - - - - rs2797491 2601 1 cds_start_NF HGNC HGNC:23484 - - - - - Ensembl - G G - - - 0.8361 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000699050.1 protein_coding 18/24 - - - 4199 3929 1310 R/P cGt/cCt rs2797491 - 1 - HGNC HGNC:23484 - - - A2 - Ensembl - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000699051.1 protein_coding 19/25 - - - 4101 4007 1336 R/P cGt/cCt rs2797491 - 1 - HGNC HGNC:23484 - - - P2 - Ensembl - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 54906 Transcript NM_001321783.2 protein_coding 16/22 - - - 3922 3224 1075 R/P cGt/cCt rs2797491 - 1 - EntrezGene HGNC:23484 ENST00000695737.1 - - - - RefSeq - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 54906 Transcript NM_001321784.2 protein_coding 16/22 - - - 3968 3224 1075 R/P cGt/cCt rs2797491 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 54906 Transcript NM_001321785.2 protein_coding 15/21 - - - 3679 2981 994 R/P cGt/cCt rs2797491 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 54906 Transcript NM_001387328.1 protein_coding 18/24 - - - 3985 3869 1290 R/P cGt/cCt rs2797491 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5746645-5746645 C missense_variant MODERATE TASOR2 54906 Transcript NM_017782.5 protein_coding 15/21 - - - 3849 3224 1075 R/P cGt/cCt rs2797491 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - G G - tolerated(1) benign(0) 0.8361 - - - - - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000328090.9 protein_coding 20/21 - - - 7836 7211 2404 S/N aGt/aAt rs2797501 - 1 - HGNC HGNC:23484 - - 1 - - Ensembl - G G - tolerated(0.39) benign(0.001) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A downstream_gene_variant MODIFIER GDI2 ENSG00000057608 Transcript ENST00000380181.7 protein_coding - - - - - - - - - rs2797501 3386 -1 - HGNC HGNC:4227 - - 1 - - Ensembl - G G - - - 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A downstream_gene_variant MODIFIER GDI2 ENSG00000057608 Transcript ENST00000380191.9 protein_coding - - - - - - - - - rs2797501 2655 -1 - HGNC HGNC:4227 NM_001494.4 - 1 P1 - Ensembl - G G - - - 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A downstream_gene_variant MODIFIER GDI2 ENSG00000057608 Transcript ENST00000447751.5 protein_coding - - - - - - - - - rs2797501 3281 -1 cds_start_NF HGNC HGNC:4227 - - 3 - - Ensembl - G G - - - 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A non_coding_transcript_exon_variant MODIFIER TASOR2 ENSG00000108021 Transcript ENST00000459693.1 retained_intron 2/2 - - - 669 - - - - rs2797501 - 1 - HGNC HGNC:23484 - - 1 - - Ensembl - G G - - - 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A downstream_gene_variant MODIFIER GDI2 ENSG00000057608 Transcript ENST00000479928.1 protein_coding_CDS_not_defined - - - - - - - - - rs2797501 2661 -1 - HGNC HGNC:4227 - - 2 - - Ensembl - G G - - - 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A downstream_gene_variant MODIFIER TASOR2 ENSG00000108021 Transcript ENST00000487196.1 retained_intron - - - - - - - - - rs2797501 767 1 - HGNC HGNC:23484 - - 3 - - Ensembl - G G - - - 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000645567.1 protein_coding 23/24 - - - 7954 7856 2619 S/N aGt/aAt rs2797501 - 1 - HGNC HGNC:23484 - - - - - Ensembl - G G - tolerated(0.4) benign(0.024) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000695737.1 protein_coding 21/22 - - - 7909 7211 2404 S/N aGt/aAt rs2797501 - 1 - HGNC HGNC:23484 NM_001321783.2 - - - - Ensembl - G G - tolerated(0.39) benign(0.001) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000695832.1 protein_coding 19/20 - - - 7847 7463 2488 S/N aGt/aAt rs2797501 - 1 - HGNC HGNC:23484 - - - - - Ensembl - G G - tolerated(0.37) benign(0.014) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000695833.1 protein_coding 20/21 - - - 7666 6968 2323 S/N aGt/aAt rs2797501 - 1 - HGNC HGNC:23484 - - - - - Ensembl - G G - tolerated(0.38) benign(0.044) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000695834.1 protein_coding 21/22 - - - 7955 7211 2404 S/N aGt/aAt rs2797501 - 1 - HGNC HGNC:23484 - - - - - Ensembl - G G - tolerated(0.39) benign(0.001) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000695835.1 protein_coding 20/21 - - - 3953 3686 1229 S/N aGt/aAt rs2797501 - 1 - HGNC HGNC:23484 - - - - - Ensembl - G G - tolerated(0.29) benign(0.22) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TASOR2 ENSG00000108021 Transcript ENST00000695836.1 nonsense_mediated_decay 21/22 - - - 3879 - - - - rs2797501 - 1 - HGNC HGNC:23484 - - - - - Ensembl - G G - - - 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TASOR2 ENSG00000108021 Transcript ENST00000695837.1 nonsense_mediated_decay 8/9 - - - 1484 - - - - rs2797501 - 1 cds_start_NF HGNC HGNC:23484 - - - - - Ensembl - G G - - - 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000699050.1 protein_coding 23/24 - - - 8186 7916 2639 S/N aGt/aAt rs2797501 - 1 - HGNC HGNC:23484 - - - A2 - Ensembl - G G - tolerated(0.41) benign(0.024) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 ENSG00000108021 Transcript ENST00000699051.1 protein_coding 24/25 - - - 8088 7994 2665 S/N aGt/aAt rs2797501 - 1 - HGNC HGNC:23484 - - - P2 - Ensembl - G G - tolerated(0.44) benign(0.024) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A downstream_gene_variant MODIFIER GDI2 2665 Transcript NM_001115156.2 protein_coding - - - - - - - - - rs2797501 2655 -1 - EntrezGene HGNC:4227 - - - - - RefSeq - G G - - - 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 54906 Transcript NM_001321783.2 protein_coding 21/22 - - - 7909 7211 2404 S/N aGt/aAt rs2797501 - 1 - EntrezGene HGNC:23484 ENST00000695737.1 - - - - RefSeq - G G - tolerated(0.39) benign(0.001) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 54906 Transcript NM_001321784.2 protein_coding 21/22 - - - 7955 7211 2404 S/N aGt/aAt rs2797501 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - G G - tolerated(0.39) benign(0.001) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 54906 Transcript NM_001321785.2 protein_coding 20/21 - - - 7666 6968 2323 S/N aGt/aAt rs2797501 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - G G - tolerated(0.38) benign(0.044) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 54906 Transcript NM_001387328.1 protein_coding 23/24 - - - 7972 7856 2619 S/N aGt/aAt rs2797501 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - G G - tolerated(0.4) benign(0.024) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A downstream_gene_variant MODIFIER GDI2 2665 Transcript NM_001494.4 protein_coding - - - - - - - - - rs2797501 2655 -1 - EntrezGene HGNC:4227 ENST00000380191.9 - - - - RefSeq - G G - - - 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A missense_variant MODERATE TASOR2 54906 Transcript NM_017782.5 protein_coding 20/21 - - - 7836 7211 2404 S/N aGt/aAt rs2797501 - 1 - EntrezGene HGNC:23484 - - - - - RefSeq - G G - tolerated(0.39) benign(0.001) 0.8540 - - 1 23727862 - - - - - . 10:5762568-5762568 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000394763 open_chromatin_region - - - - - - - - - rs2797501 - - - - - - - - - - - - - - - - - 0.8540 - - 1 23727862 - - - - - . 10:5785111-5785111 A downstream_gene_variant MODIFIER GDI2 ENSG00000057608 Transcript ENST00000380127.5 protein_coding - - - - - - - - - rs10795547,COSV66334380 895 -1 cds_end_NF HGNC HGNC:4227 - - 3 - - Ensembl - G G - - - 0.4561 - 0,1 0,1 - - - - - - . 10:5785111-5785111 A intron_variant MODIFIER GDI2 ENSG00000057608 Transcript ENST00000380181.7 protein_coding - 5/9 - - - - - - - rs10795547,COSV66334380 - -1 - HGNC HGNC:4227 - - 1 - - Ensembl - G G - - - 0.4561 - 0,1 0,1 - - - - - - . 10:5785111-5785111 A intron_variant MODIFIER GDI2 ENSG00000057608 Transcript ENST00000380191.9 protein_coding - 6/10 - - - - - - - rs10795547,COSV66334380 - -1 - HGNC HGNC:4227 NM_001494.4 - 1 P1 - Ensembl - G G - - - 0.4561 - 0,1 0,1 - - - - - - . 10:5785111-5785111 A downstream_gene_variant MODIFIER GDI2 ENSG00000057608 Transcript ENST00000418688.5 protein_coding - - - - - - - - - rs10795547,COSV66334380 755 -1 cds_end_NF HGNC HGNC:4227 - - 5 - - Ensembl - G G - - - 0.4561 - 0,1 0,1 - - - - - - . 10:5785111-5785111 A intron_variant MODIFIER GDI2 ENSG00000057608 Transcript ENST00000447751.5 protein_coding - 2/5 - - - - - - - rs10795547,COSV66334380 - -1 cds_start_NF HGNC HGNC:4227 - - 3 - - Ensembl - G G - - - 0.4561 - 0,1 0,1 - - - - - - . 10:5785111-5785111 A intron_variant MODIFIER GDI2 ENSG00000057608 Transcript ENST00000456041.5 protein_coding - 6/6 - - - - - - - rs10795547,COSV66334380 - -1 cds_end_NF HGNC HGNC:4227 - - 5 - - Ensembl - G G - - - 0.4561 - 0,1 0,1 - - - - - - . 10:5785111-5785111 A downstream_gene_variant MODIFIER GDI2 ENSG00000057608 Transcript ENST00000608581.5 protein_coding - - - - - - - - - rs10795547,COSV66334380 871 -1 cds_end_NF HGNC HGNC:4227 - - 3 - - Ensembl - G G - - - 0.4561 - 0,1 0,1 - - - - - - . 10:5785111-5785111 A intron_variant MODIFIER GDI2 2665 Transcript NM_001115156.2 protein_coding - 5/9 - - - - - - - rs10795547,COSV66334380 - -1 - EntrezGene HGNC:4227 - - - - - RefSeq - G G - - - 0.4561 - 0,1 0,1 - - - - - - . 10:5785111-5785111 A intron_variant MODIFIER GDI2 2665 Transcript NM_001494.4 protein_coding - 6/10 - - - - - - - rs10795547,COSV66334380 - -1 - EntrezGene HGNC:4227 ENST00000380191.9 - - - - RefSeq - G G - - - 0.4561 - 0,1 0,1 - - - - - - . 10:5878158-5878158 C 3_prime_UTR_variant MODIFIER ANKRD16 ENSG00000134461 Transcript ENST00000191063.8 protein_coding 6/6 - - - 1531 - - - - rs1052420 - -1 - HGNC HGNC:23471 - - 3 - - Ensembl - T T - - - 0.8039 - - - 16385451 - - - - - . 10:5878158-5878158 C missense_variant MODERATE ANKRD16 ENSG00000134461 Transcript ENST00000380092.8 protein_coding 7/7 - - - 1575 1058 353 Q/R cAg/cGg rs1052420 - -1 - HGNC HGNC:23471 - - 1 P1 - Ensembl - T T - tolerated_low_confidence(0.43) benign(0.001) 0.8039 - - - 16385451 - - - - - . 10:5878158-5878158 C missense_variant MODERATE ANKRD16 ENSG00000134461 Transcript ENST00000380094.10 protein_coding 7/8 - - - 1597 1058 353 Q/R cAg/cGg rs1052420 - -1 - HGNC HGNC:23471 NM_019046.3 - 2 P1 - Ensembl - T T - tolerated_low_confidence(0.43) benign(0.001) 0.8039 - - - 16385451 - - - - - . 10:5878158-5878158 C downstream_gene_variant MODIFIER ANKRD16 ENSG00000134461 Transcript ENST00000492368.1 retained_intron - - - - - - - - - rs1052420 4545 -1 - HGNC HGNC:23471 - - 2 - - Ensembl - T T - - - 0.8039 - - - 16385451 - - - - - . 10:5878158-5878158 C missense_variant MODERATE ANKRD16 54522 Transcript NM_001009941.3 protein_coding 7/7 - - - 1597 1058 353 Q/R cAg/cGg rs1052420 - -1 - EntrezGene HGNC:23471 - - - - - RefSeq - T T - tolerated_low_confidence(0.43) benign(0.001) 0.8039 - - - 16385451 - - - - - . 10:5878158-5878158 C 3_prime_UTR_variant MODIFIER ANKRD16 54522 Transcript NM_001009943.3 protein_coding 6/6 - - - 1518 - - - - rs1052420 - -1 - EntrezGene HGNC:23471 - - - - - RefSeq - T T - - - 0.8039 - - - 16385451 - - - - - . 10:5878158-5878158 C missense_variant MODERATE ANKRD16 54522 Transcript NM_019046.3 protein_coding 7/8 - - - 1597 1058 353 Q/R cAg/cGg rs1052420 - -1 - EntrezGene HGNC:23471 ENST00000380094.10 - - - - RefSeq - T T - tolerated_low_confidence(0.43) benign(0.001) 0.8039 - - - 16385451 - - - - - . 10:6485181-6485181 A missense_variant MODERATE PRKCQ ENSG00000065675 Transcript ENST00000263125.10 protein_coding 10/18 - - - 1064 989 330 P/L cCg/cTg rs2236379,COSV54105779 - -1 - HGNC HGNC:9410 NM_006257.5 - 1 P1 - Ensembl - G G - tolerated_low_confidence(0.91) benign(0) 0.3654 benign,pathogenic 0,1 1,1 16642433,26974007,16385451,30828974,27903959,32450446,28608429,35915065 - - - - - . 10:6485181-6485181 A missense_variant MODERATE PRKCQ ENSG00000065675 Transcript ENST00000397176.6 protein_coding 10/17 - - - 1089 989 330 P/L cCg/cTg rs2236379,COSV54105779 - -1 - HGNC HGNC:9410 - - 5 - - Ensembl - G G - tolerated_low_confidence(0.79) - 0.3654 benign,pathogenic 0,1 1,1 16642433,26974007,16385451,30828974,27903959,32450446,28608429,35915065 - - - - - . 10:6485181-6485181 A missense_variant MODERATE PRKCQ ENSG00000065675 Transcript ENST00000539722.5 protein_coding 9/17 - - - 1028 614 205 P/L cCg/cTg rs2236379,COSV54105779 - -1 - HGNC HGNC:9410 - - 2 - - Ensembl - G G - tolerated_low_confidence(0.64) benign(0) 0.3654 benign,pathogenic 0,1 1,1 16642433,26974007,16385451,30828974,27903959,32450446,28608429,35915065 - - - - - . 10:6485181-6485181 A missense_variant MODERATE PRKCQ 5588 Transcript NM_001242413.2 protein_coding 10/17 - - - 1089 989 330 P/L cCg/cTg rs2236379,COSV54105779 - -1 - EntrezGene HGNC:9410 - - - - - RefSeq - G G OK tolerated_low_confidence(0.79) - 0.3654 benign,pathogenic 0,1 1,1 16642433,26974007,16385451,30828974,27903959,32450446,28608429,35915065 - - - - - . 10:6485181-6485181 A missense_variant MODERATE PRKCQ 5588 Transcript NM_001282644.2 protein_coding 10/18 - - - 1062 881 294 P/L cCg/cTg rs2236379,COSV54105779 - -1 - EntrezGene HGNC:9410 - - - - - RefSeq - G G - tolerated_low_confidence(0.88) benign(0) 0.3654 benign,pathogenic 0,1 1,1 16642433,26974007,16385451,30828974,27903959,32450446,28608429,35915065 - - - - - . 10:6485181-6485181 A missense_variant MODERATE PRKCQ 5588 Transcript NM_001282645.1 protein_coding 9/17 - - - 1028 614 205 P/L cCg/cTg rs2236379,COSV54105779 - -1 - EntrezGene HGNC:9410 - - - - - RefSeq - G G OK tolerated_low_confidence(0.64) benign(0) 0.3654 benign,pathogenic 0,1 1,1 16642433,26974007,16385451,30828974,27903959,32450446,28608429,35915065 - - - - - . 10:6485181-6485181 A missense_variant MODERATE PRKCQ 5588 Transcript NM_001323265.1 protein_coding 10/18 - - - 1144 989 330 P/L cCg/cTg rs2236379,COSV54105779 - -1 - EntrezGene HGNC:9410 - - - - - RefSeq - G G - tolerated_low_confidence(0.91) benign(0) 0.3654 benign,pathogenic 0,1 1,1 16642433,26974007,16385451,30828974,27903959,32450446,28608429,35915065 - - - - - . 10:6485181-6485181 A missense_variant MODERATE PRKCQ 5588 Transcript NM_001323266.2 protein_coding 9/17 - - - 1001 614 205 P/L cCg/cTg rs2236379,COSV54105779 - -1 - EntrezGene HGNC:9410 - - - - - RefSeq - G G - tolerated_low_confidence(0.64) benign(0) 0.3654 benign,pathogenic 0,1 1,1 16642433,26974007,16385451,30828974,27903959,32450446,28608429,35915065 - - - - - . 10:6485181-6485181 A missense_variant MODERATE PRKCQ 5588 Transcript NM_001323267.2 protein_coding 10/18 - - - 1062 881 294 P/L cCg/cTg rs2236379,COSV54105779 - -1 - EntrezGene HGNC:9410 - - - - - RefSeq - G G - tolerated_low_confidence(0.66) benign(0) 0.3654 benign,pathogenic 0,1 1,1 16642433,26974007,16385451,30828974,27903959,32450446,28608429,35915065 - - - - - . 10:6485181-6485181 A missense_variant MODERATE PRKCQ 5588 Transcript NM_006257.5 protein_coding 10/18 - - - 1064 989 330 P/L cCg/cTg rs2236379,COSV54105779 - -1 - EntrezGene HGNC:9410 ENST00000263125.10 - - - - RefSeq - G G - tolerated_low_confidence(0.91) benign(0) 0.3654 benign,pathogenic 0,1 1,1 16642433,26974007,16385451,30828974,27903959,32450446,28608429,35915065 - - - - - . 10:6485181-6485181 A missense_variant MODERATE PRKCQ 5588 Transcript XM_005252496.5 protein_coding 10/18 - - - 1189 1091 364 P/L cCg/cTg rs2236379,COSV54105779 - -1 - EntrezGene HGNC:9410 - - - - - RefSeq - G G - - - 0.3654 benign,pathogenic 0,1 1,1 16642433,26974007,16385451,30828974,27903959,32450446,28608429,35915065 - - - - - . 10:6485181-6485181 A missense_variant MODERATE PRKCQ 5588 Transcript XM_005252497.5 protein_coding 10/18 - - - 1189 1091 364 P/L cCg/cTg rs2236379,COSV54105779 - -1 - EntrezGene HGNC:9410 - - - - - RefSeq - G G - - - 0.3654 benign,pathogenic 0,1 1,1 16642433,26974007,16385451,30828974,27903959,32450446,28608429,35915065 - - - - - . 10:6825217-6825217 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000436383.2 lncRNA - 2/4 - - - - - - - - - 1 - HGNC HGNC:44691 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:6825217-6825217 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648093.1 lncRNA - 4/6 - - - - - - - - - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825217-6825217 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648398.1 lncRNA - 3/5 - - - - - - - - - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825217-6825217 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648637.1 lncRNA - 2/4 - - - - - - - - - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825217-6825217 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000649029.1 lncRNA - 4/6 - - - - - - - - - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825217-6825217 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000650412.1 lncRNA - 2/2 - - - - - - - - - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825217-6825217 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000664549.1 lncRNA 5/5 - - - 1567 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825217-6825217 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000665216.1 lncRNA 5/5 - - - 1509 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825217-6825217 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000666057.1 lncRNA 4/4 - - - 1411 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825217-6825217 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000669799.1 lncRNA 3/3 - - - 1972 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825217-6825217 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 100507127 Transcript NR_038291.1 lncRNA - 2/4 - - - - - - - - - 1 - EntrezGene HGNC:44691 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:6825217-6825217 G stop_lost HIGH LOC107984203 107984203 Transcript XM_017017016.2 protein_coding 2/2 - - - 2017 1309 437 */R Tga/Cga - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:6825280-6825280 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000436383.2 lncRNA - 2/4 - - - - - - - rs1001680461 - 1 - HGNC HGNC:44691 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:6825280-6825280 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648093.1 lncRNA - 4/6 - - - - - - - rs1001680461 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825280-6825280 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648398.1 lncRNA - 3/5 - - - - - - - rs1001680461 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825280-6825280 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648637.1 lncRNA - 2/4 - - - - - - - rs1001680461 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825280-6825280 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000649029.1 lncRNA - 4/6 - - - - - - - rs1001680461 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825280-6825280 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000650412.1 lncRNA - 2/2 - - - - - - - rs1001680461 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825280-6825280 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000664549.1 lncRNA 5/5 - - - 1504 - - - - rs1001680461 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825280-6825280 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000665216.1 lncRNA 5/5 - - - 1446 - - - - rs1001680461 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825280-6825280 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000666057.1 lncRNA 4/4 - - - 1348 - - - - rs1001680461 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825280-6825280 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000669799.1 lncRNA 3/3 - - - 1909 - - - - rs1001680461 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825280-6825280 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 100507127 Transcript NR_038291.1 lncRNA - 2/4 - - - - - - - rs1001680461 - 1 - EntrezGene HGNC:44691 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:6825280-6825280 G missense_variant MODERATE LOC107984203 107984203 Transcript XM_017017016.2 protein_coding 2/2 - - - 1954 1246 416 F/L Ttc/Ctc rs1001680461 - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:6825291-6825291 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000436383.2 lncRNA - 2/4 - - - - - - - rs1307572293 - 1 - HGNC HGNC:44691 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:6825291-6825291 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648093.1 lncRNA - 4/6 - - - - - - - rs1307572293 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825291-6825291 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648398.1 lncRNA - 3/5 - - - - - - - rs1307572293 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825291-6825291 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648637.1 lncRNA - 2/4 - - - - - - - rs1307572293 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825291-6825291 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000649029.1 lncRNA - 4/6 - - - - - - - rs1307572293 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825291-6825291 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000650412.1 lncRNA - 2/2 - - - - - - - rs1307572293 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825291-6825291 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000664549.1 lncRNA 5/5 - - - 1493 - - - - rs1307572293 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825291-6825291 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000665216.1 lncRNA 5/5 - - - 1435 - - - - rs1307572293 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825291-6825291 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000666057.1 lncRNA 4/4 - - - 1337 - - - - rs1307572293 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825291-6825291 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000669799.1 lncRNA 3/3 - - - 1898 - - - - rs1307572293 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825291-6825291 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 100507127 Transcript NR_038291.1 lncRNA - 2/4 - - - - - - - rs1307572293 - 1 - EntrezGene HGNC:44691 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:6825291-6825291 G missense_variant MODERATE LOC107984203 107984203 Transcript XM_017017016.2 protein_coding 2/2 - - - 1943 1235 412 M/T aTg/aCg rs1307572293 - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:6825302-6825302 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000436383.2 lncRNA - 2/4 - - - - - - - rs1258844492 - 1 - HGNC HGNC:44691 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:6825302-6825302 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648093.1 lncRNA - 4/6 - - - - - - - rs1258844492 - 1 - HGNC HGNC:44691 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825302-6825302 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648398.1 lncRNA - 3/5 - - - - - - - rs1258844492 - 1 - HGNC HGNC:44691 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825302-6825302 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648637.1 lncRNA - 2/4 - - - - - - - rs1258844492 - 1 - HGNC HGNC:44691 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825302-6825302 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000649029.1 lncRNA - 4/6 - - - - - - - rs1258844492 - 1 - HGNC HGNC:44691 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825302-6825302 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000650412.1 lncRNA - 2/2 - - - - - - - rs1258844492 - 1 - HGNC HGNC:44691 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825302-6825302 A non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000664549.1 lncRNA 5/5 - - - 1482 - - - - rs1258844492 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825302-6825302 A non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000665216.1 lncRNA 5/5 - - - 1424 - - - - rs1258844492 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825302-6825302 A non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000666057.1 lncRNA 4/4 - - - 1326 - - - - rs1258844492 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825302-6825302 A non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000669799.1 lncRNA 3/3 - - - 1887 - - - - rs1258844492 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825302-6825302 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 100507127 Transcript NR_038291.1 lncRNA - 2/4 - - - - - - - rs1258844492 - 1 - EntrezGene HGNC:44691 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:6825302-6825302 A synonymous_variant LOW LOC107984203 107984203 Transcript XM_017017016.2 protein_coding 2/2 - - - 1932 1224 408 I atC/atT rs1258844492 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:6825359-6825359 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000436383.2 lncRNA - 2/4 - - - - - - - rs911325362 - 1 - HGNC HGNC:44691 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:6825359-6825359 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648093.1 lncRNA - 4/6 - - - - - - - rs911325362 - 1 - HGNC HGNC:44691 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825359-6825359 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648398.1 lncRNA - 3/5 - - - - - - - rs911325362 - 1 - HGNC HGNC:44691 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825359-6825359 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648637.1 lncRNA - 2/4 - - - - - - - rs911325362 - 1 - HGNC HGNC:44691 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825359-6825359 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000649029.1 lncRNA - 4/6 - - - - - - - rs911325362 - 1 - HGNC HGNC:44691 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825359-6825359 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000650412.1 lncRNA - 2/2 - - - - - - - rs911325362 - 1 - HGNC HGNC:44691 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825359-6825359 A non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000664549.1 lncRNA 5/5 - - - 1425 - - - - rs911325362 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825359-6825359 A non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000665216.1 lncRNA 5/5 - - - 1367 - - - - rs911325362 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825359-6825359 A non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000666057.1 lncRNA 4/4 - - - 1269 - - - - rs911325362 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825359-6825359 A non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000669799.1 lncRNA 3/3 - - - 1830 - - - - rs911325362 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:6825359-6825359 A intron_variant,non_coding_transcript_variant MODIFIER LINC00707 100507127 Transcript NR_038291.1 lncRNA - 2/4 - - - - - - - rs911325362 - 1 - EntrezGene HGNC:44691 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:6825359-6825359 A synonymous_variant LOW LOC107984203 107984203 Transcript XM_017017016.2 protein_coding 2/2 - - - 1875 1167 389 I atC/atT rs911325362 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:6825403-6825403 C intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000436383.2 lncRNA - 2/4 - - - - - - - - - 1 - HGNC HGNC:44691 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:6825403-6825403 C intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648093.1 lncRNA - 4/6 - - - - - - - - - 1 - HGNC HGNC:44691 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:6825403-6825403 C intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648398.1 lncRNA - 3/5 - - - - - - - - - 1 - HGNC HGNC:44691 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:6825403-6825403 C intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648637.1 lncRNA - 2/4 - - - - - - - - - 1 - HGNC HGNC:44691 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:6825403-6825403 C intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000649029.1 lncRNA - 4/6 - - - - - - - - - 1 - HGNC HGNC:44691 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:6825403-6825403 C intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000650412.1 lncRNA - 2/2 - - - - - - - - - 1 - HGNC HGNC:44691 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:6825403-6825403 C non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000664549.1 lncRNA 5/5 - - - 1381 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:6825403-6825403 C non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000665216.1 lncRNA 5/5 - - - 1323 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:6825403-6825403 C non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000666057.1 lncRNA 4/4 - - - 1225 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:6825403-6825403 C non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000669799.1 lncRNA 3/3 - - - 1786 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:6825403-6825403 C intron_variant,non_coding_transcript_variant MODIFIER LINC00707 100507127 Transcript NR_038291.1 lncRNA - 2/4 - - - - - - - - - 1 - EntrezGene HGNC:44691 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:6825403-6825403 C missense_variant MODERATE LOC107984203 107984203 Transcript XM_017017016.2 protein_coding 2/2 - - - 1831 1123 375 T/A Aca/Gca - - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:6825407-6825407 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000436383.2 lncRNA - 2/4 - - - - - - - rs1300107342 - 1 - HGNC HGNC:44691 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:6825407-6825407 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648093.1 lncRNA - 4/6 - - - - - - - rs1300107342 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825407-6825407 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648398.1 lncRNA - 3/5 - - - - - - - rs1300107342 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825407-6825407 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000648637.1 lncRNA - 2/4 - - - - - - - rs1300107342 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825407-6825407 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000649029.1 lncRNA - 4/6 - - - - - - - rs1300107342 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825407-6825407 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 ENSG00000238266 Transcript ENST00000650412.1 lncRNA - 2/2 - - - - - - - rs1300107342 - 1 - HGNC HGNC:44691 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825407-6825407 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000664549.1 lncRNA 5/5 - - - 1377 - - - - rs1300107342 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825407-6825407 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000665216.1 lncRNA 5/5 - - - 1319 - - - - rs1300107342 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825407-6825407 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000666057.1 lncRNA 4/4 - - - 1221 - - - - rs1300107342 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825407-6825407 G non_coding_transcript_exon_variant MODIFIER - ENSG00000287277 Transcript ENST00000669799.1 lncRNA 3/3 - - - 1782 - - - - rs1300107342 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:6825407-6825407 G intron_variant,non_coding_transcript_variant MODIFIER LINC00707 100507127 Transcript NR_038291.1 lncRNA - 2/4 - - - - - - - rs1300107342 - 1 - EntrezGene HGNC:44691 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:6825407-6825407 G synonymous_variant LOW LOC107984203 107984203 Transcript XM_017017016.2 protein_coding 2/2 - - - 1827 1119 373 F ttT/ttC rs1300107342 - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:7717632-7717632 T synonymous_variant LOW ITIH2 ENSG00000151655 Transcript ENST00000358415.9 protein_coding 6/21 - - - 593 474 158 S agC/agT rs7072478,COSV64432481 - 1 - HGNC HGNC:6167 NM_002216.3 - 1 P1 - Ensembl - C C - - - 0.2071 - 0,1 0,1 - - - - - - . 10:7717632-7717632 T synonymous_variant LOW ITIH2 ENSG00000151655 Transcript ENST00000379587.4 protein_coding 5/20 - - - 476 441 147 S agC/agT rs7072478,COSV64432481 - 1 - HGNC HGNC:6167 - - 5 - - Ensembl - C C - - - 0.2071 - 0,1 0,1 - - - - - - . 10:7717632-7717632 T synonymous_variant LOW ITIH2 ENSG00000151655 Transcript ENST00000429820.5 protein_coding 5/7 - - - 454 399 133 S agC/agT rs7072478,COSV64432481 - 1 cds_end_NF HGNC HGNC:6167 - - 3 - - Ensembl - C C - - - 0.2071 - 0,1 0,1 - - - - - - . 10:7717632-7717632 T downstream_gene_variant MODIFIER ITIH2 ENSG00000151655 Transcript ENST00000473227.5 retained_intron - - - - - - - - - rs7072478,COSV64432481 4249 1 - HGNC HGNC:6167 - - 2 - - Ensembl - C C - - - 0.2071 - 0,1 0,1 - - - - - - . 10:7717632-7717632 T non_coding_transcript_exon_variant MODIFIER ITIH2 ENSG00000151655 Transcript ENST00000480387.1 protein_coding_CDS_not_defined 5/6 - - - 371 - - - - rs7072478,COSV64432481 - 1 - HGNC HGNC:6167 - - 3 - - Ensembl - C C - - - 0.2071 - 0,1 0,1 - - - - - - . 10:7717632-7717632 T synonymous_variant LOW ITIH2 3698 Transcript NM_002216.3 protein_coding 6/21 - - - 593 474 158 S agC/agT rs7072478,COSV64432481 - 1 - EntrezGene HGNC:6167 ENST00000358415.9 - - - - RefSeq - C C - - - 0.2071 - 0,1 0,1 - - - - - - . 10:7723427-7723427 C intron_variant MODIFIER ITIH2 ENSG00000151655 Transcript ENST00000358415.9 protein_coding - 8/20 - - - - - - - rs2274457,COSV64432485 - 1 - HGNC HGNC:6167 NM_002216.3 - 1 P1 - Ensembl - T T - - - 0.0338 - 0,1 0,1 - - - - - - . 10:7723427-7723427 C intron_variant MODIFIER ITIH2 ENSG00000151655 Transcript ENST00000379587.4 protein_coding - 7/19 - - - - - - - rs2274457,COSV64432485 - 1 - HGNC HGNC:6167 - - 5 - - Ensembl - T T - - - 0.0338 - 0,1 0,1 - - - - - - . 10:7723427-7723427 C downstream_gene_variant MODIFIER ITIH2 ENSG00000151655 Transcript ENST00000429820.5 protein_coding - - - - - - - - - rs2274457,COSV64432485 1730 1 cds_end_NF HGNC HGNC:6167 - - 3 - - Ensembl - T T - - - 0.0338 - 0,1 0,1 - - - - - - . 10:7723427-7723427 C downstream_gene_variant MODIFIER ITIH2 ENSG00000151655 Transcript ENST00000480387.1 protein_coding_CDS_not_defined - - - - - - - - - rs2274457,COSV64432485 2526 1 - HGNC HGNC:6167 - - 3 - - Ensembl - T T - - - 0.0338 - 0,1 0,1 - - - - - - . 10:7723427-7723427 C intron_variant MODIFIER ITIH2 3698 Transcript NM_002216.3 protein_coding - 8/20 - - - - - - - rs2274457,COSV64432485 - 1 - EntrezGene HGNC:6167 ENST00000358415.9 - - - - RefSeq - T T - - - 0.0338 - 0,1 0,1 - - - - - - . 10:7778759-7778759 C intron_variant MODIFIER KIN ENSG00000151657 Transcript ENST00000379562.9 protein_coding - 5/12 - - - - - - - rs74846952,COSV65430092 - -1 - HGNC HGNC:6327 NM_012311.4 - 1 P1 - Ensembl - A A - - - 0.0445 - 0,1 0,1 - - - - - - . 10:7778759-7778759 C upstream_gene_variant MODIFIER KIN ENSG00000151657 Transcript ENST00000460089.1 protein_coding_CDS_not_defined - - - - - - - - - rs74846952,COSV65430092 3881 -1 - HGNC HGNC:6327 - - 3 - - Ensembl - A A - - - 0.0445 - 0,1 0,1 - - - - - - . 10:7778759-7778759 C intron_variant MODIFIER KIN 22944 Transcript NM_012311.4 protein_coding - 5/12 - - - - - - - rs74846952,COSV65430092 - -1 - EntrezGene HGNC:6327 ENST00000379562.9 - - - - RefSeq - A A - - - 0.0445 - 0,1 0,1 - - - - - - . 10:7778759-7778759 C intron_variant,non_coding_transcript_variant MODIFIER KIN 22944 Transcript NR_045609.2 misc_RNA - 5/13 - - - - - - - rs74846952,COSV65430092 - -1 - EntrezGene HGNC:6327 - - - - - RefSeq - A A - - - 0.0445 - 0,1 0,1 - - - - - - . 10:7778759-7778759 C intron_variant MODIFIER KIN 22944 Transcript XM_006717434.5 protein_coding - 5/11 - - - - - - - rs74846952,COSV65430092 - -1 - EntrezGene HGNC:6327 - - - - - RefSeq - A A - - - 0.0445 - 0,1 0,1 - - - - - - . 10:7778759-7778759 C intron_variant MODIFIER KIN 22944 Transcript XM_006717435.5 protein_coding - 4/10 - - - - - - - rs74846952,COSV65430092 - -1 - EntrezGene HGNC:6327 - - - - - RefSeq - A A - - - 0.0445 - 0,1 0,1 - - - - - - . 10:7778759-7778759 C intron_variant,non_coding_transcript_variant MODIFIER KIN 22944 Transcript XR_930485.3 misc_RNA - 5/13 - - - - - - - rs74846952,COSV65430092 - -1 - EntrezGene HGNC:6327 - - - - - RefSeq - A A - - - 0.0445 - 0,1 0,1 - - - - - - . 10:7804189-7804189 C intron_variant MODIFIER ATP5F1C ENSG00000165629 Transcript ENST00000335698.4 protein_coding - 8/8 - - - - - - - rs914609 - 1 - HGNC HGNC:833 - - 1 P4 - Ensembl - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C intron_variant MODIFIER ATP5F1C ENSG00000165629 Transcript ENST00000356708.12 protein_coding - 8/9 - - - - - - - rs914609 - 1 - HGNC HGNC:833 NM_001001973.3 - 1 A1 - Ensembl - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C downstream_gene_variant MODIFIER ATP5F1C ENSG00000165629 Transcript ENST00000460820.6 protein_coding_CDS_not_defined - - - - - - - - - rs914609 4137 1 - HGNC HGNC:833 - - 2 - - Ensembl - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C intron_variant,non_coding_transcript_variant MODIFIER ATP5F1C ENSG00000165629 Transcript ENST00000465936.5 protein_coding_CDS_not_defined - 2/3 - - - - - - - rs914609 - 1 - HGNC HGNC:833 - - 3 - - Ensembl - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C downstream_gene_variant MODIFIER ATP5F1C ENSG00000165629 Transcript ENST00000472202.1 retained_intron - - - - - - - - - rs914609 4639 1 - HGNC HGNC:833 - - 2 - - Ensembl - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C intron_variant,non_coding_transcript_variant MODIFIER ATP5F1C ENSG00000165629 Transcript ENST00000473809.5 protein_coding_CDS_not_defined - 4/5 - - - - - - - rs914609 - 1 - HGNC HGNC:833 - - 2 - - Ensembl - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C intron_variant,non_coding_transcript_variant MODIFIER ATP5F1C ENSG00000165629 Transcript ENST00000480528.1 protein_coding_CDS_not_defined - 2/3 - - - - - - - rs914609 - 1 - HGNC HGNC:833 - - 2 - - Ensembl - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C intron_variant,non_coding_transcript_variant MODIFIER ATP5F1C ENSG00000165629 Transcript ENST00000493053.5 protein_coding_CDS_not_defined - 7/8 - - - - - - - rs914609 - 1 - HGNC HGNC:833 - - 5 - - Ensembl - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C intron_variant MODIFIER ATP5F1C 509 Transcript NM_001001973.3 protein_coding - 8/9 - - - - - - - rs914609 - 1 - EntrezGene HGNC:833 ENST00000356708.12 - - - - RefSeq - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C intron_variant MODIFIER ATP5F1C 509 Transcript NM_001320886.2 protein_coding - 7/8 - - - - - - - rs914609 - 1 - EntrezGene HGNC:833 - - - - - RefSeq - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C intron_variant MODIFIER ATP5F1C 509 Transcript NM_005174.4 protein_coding - 8/8 - - - - - - - rs914609 - 1 - EntrezGene HGNC:833 - - - - - RefSeq - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C intron_variant MODIFIER ATP5F1C 509 Transcript XM_017016290.2 protein_coding - 7/7 - - - - - - - rs914609 - 1 - EntrezGene HGNC:833 - - - - - RefSeq - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C intron_variant MODIFIER ATP5F1C 509 Transcript XM_047425254.1 protein_coding - 8/8 - - - - - - - rs914609 - 1 - EntrezGene HGNC:833 - - - - - RefSeq - T T - - - 0.9465 - - - - - - - - - . 10:7804189-7804189 C intron_variant,non_coding_transcript_variant MODIFIER LOC105376392 105376392 Transcript XR_001747356.1 lncRNA - 2/2 - - - - - - - rs914609 - -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.9465 - - - - - - - - - . 10:7824305-7824305 G splice_polypyrimidine_tract_variant,intron_variant LOW TAF3 ENSG00000165632 Transcript ENST00000344293.6 protein_coding - 1/6 - - - - - - - rs7070208 - 1 - HGNC HGNC:17303 NM_031923.4 - 1 P4 - Ensembl - C C - - - 0.9665 - - - - - - - - - . 10:7824305-7824305 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TAF3 ENSG00000165632 Transcript ENST00000685647.1 retained_intron - 1/1 - - - - - - - rs7070208 - 1 - HGNC HGNC:17303 - - - - - Ensembl - C C - - - 0.9665 - - - - - - - - - . 10:7824305-7824305 G splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW TAF3 ENSG00000165632 Transcript ENST00000686593.1 nonsense_mediated_decay - 1/3 - - - - - - - rs7070208 - 1 - HGNC HGNC:17303 - - - - - Ensembl - C C - - - 0.9665 - - - - - - - - - . 10:7824305-7824305 G splice_polypyrimidine_tract_variant,intron_variant LOW TAF3 ENSG00000165632 Transcript ENST00000687522.1 protein_coding - 1/6 - - - - - - - rs7070208 - 1 - HGNC HGNC:17303 - - - A1 - Ensembl - C C - - - 0.9665 - - - - - - - - - . 10:7824305-7824305 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TAF3 ENSG00000165632 Transcript ENST00000687671.1 retained_intron - 1/3 - - - - - - - rs7070208 - 1 - HGNC HGNC:17303 - - - - - Ensembl - C C - - - 0.9665 - - - - - - - - - . 10:7824305-7824305 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TAF3 ENSG00000165632 Transcript ENST00000690066.1 retained_intron - 1/3 - - - - - - - rs7070208 - 1 - HGNC HGNC:17303 - - - - - Ensembl - C C - - - 0.9665 - - - - - - - - - . 10:7824305-7824305 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TAF3 ENSG00000165632 Transcript ENST00000692164.1 retained_intron - 1/4 - - - - - - - rs7070208 - 1 - HGNC HGNC:17303 - - - - - Ensembl - C C - - - 0.9665 - - - - - - - - - . 10:7824305-7824305 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TAF3 ENSG00000165632 Transcript ENST00000692339.1 retained_intron - 1/3 - - - - - - - rs7070208 - 1 - HGNC HGNC:17303 - - - - - Ensembl - C C - - - 0.9665 - - - - - - - - - . 10:7824305-7824305 G splice_polypyrimidine_tract_variant,intron_variant LOW TAF3 83860 Transcript NM_031923.4 protein_coding - 1/6 - - - - - - - rs7070208 - 1 - EntrezGene HGNC:17303 ENST00000344293.6 - - - - RefSeq - C C - - - 0.9665 - - - - - - - - - . 10:7824305-7824305 G splice_polypyrimidine_tract_variant,intron_variant LOW TAF3 83860 Transcript XM_011519741.2 protein_coding - 1/6 - - - - - - - rs7070208 - 1 - EntrezGene HGNC:17303 - - - - - RefSeq - C C - - - 0.9665 - - - - - - - - - . 10:7824305-7824305 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000941007 enhancer - - - - - - - - - rs7070208 - - - - - - - - - - - - - - - - - 0.9665 - - - - - - - - - . 10:7964835-7964835 G missense_variant MODERATE TAF3 ENSG00000165632 Transcript ENST00000344293.6 protein_coding 3/7 - - - 1530 1325 442 N/S aAt/aGt rs4747647,COSV60205848 - 1 - HGNC HGNC:17303 NM_031923.4 - 1 P4 - Ensembl - A A - tolerated(0.65) benign(0.003) 0.5421 - 0,1 0,1 17975119,16385451 - - - - - . 10:7964835-7964835 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER TAF3 ENSG00000165632 Transcript ENST00000686593.1 nonsense_mediated_decay 3/4 - - - 1534 - - - - rs4747647,COSV60205848 - 1 - HGNC HGNC:17303 - - - - - Ensembl - A A - - - 0.5421 - 0,1 0,1 17975119,16385451 - - - - - . 10:7964835-7964835 G missense_variant MODERATE TAF3 ENSG00000165632 Transcript ENST00000687522.1 protein_coding 3/7 - - - 1504 1322 441 N/S aAt/aGt rs4747647,COSV60205848 - 1 - HGNC HGNC:17303 - - - A1 - Ensembl - A A - tolerated(0.64) benign(0.024) 0.5421 - 0,1 0,1 17975119,16385451 - - - - - . 10:7964835-7964835 G non_coding_transcript_exon_variant MODIFIER TAF3 ENSG00000165632 Transcript ENST00000687671.1 retained_intron 3/4 - - - 1538 - - - - rs4747647,COSV60205848 - 1 - HGNC HGNC:17303 - - - - - Ensembl - A A - - - 0.5421 - 0,1 0,1 17975119,16385451 - - - - - . 10:7964835-7964835 G non_coding_transcript_exon_variant MODIFIER TAF3 ENSG00000165632 Transcript ENST00000690066.1 retained_intron 3/4 - - - 1528 - - - - rs4747647,COSV60205848 - 1 - HGNC HGNC:17303 - - - - - Ensembl - A A - - - 0.5421 - 0,1 0,1 17975119,16385451 - - - - - . 10:7964835-7964835 G non_coding_transcript_exon_variant MODIFIER TAF3 ENSG00000165632 Transcript ENST00000692164.1 retained_intron 4/5 - - - 1641 - - - - rs4747647,COSV60205848 - 1 - HGNC HGNC:17303 - - - - - Ensembl - A A - - - 0.5421 - 0,1 0,1 17975119,16385451 - - - - - . 10:7964835-7964835 G non_coding_transcript_exon_variant MODIFIER TAF3 ENSG00000165632 Transcript ENST00000692339.1 retained_intron 3/4 - - - 1292 - - - - rs4747647,COSV60205848 - 1 - HGNC HGNC:17303 - - - - - Ensembl - A A - - - 0.5421 - 0,1 0,1 17975119,16385451 - - - - - . 10:7964835-7964835 G missense_variant MODERATE TAF3 83860 Transcript NM_031923.4 protein_coding 3/7 - - - 1530 1325 442 N/S aAt/aGt rs4747647,COSV60205848 - 1 - EntrezGene HGNC:17303 ENST00000344293.6 - - - - RefSeq - A A - tolerated(0.65) benign(0.003) 0.5421 - 0,1 0,1 17975119,16385451 - - - - - . 10:7964835-7964835 G missense_variant MODERATE TAF3 83860 Transcript XM_011519741.2 protein_coding 3/7 - - - 1527 1322 441 N/S aAt/aGt rs4747647,COSV60205848 - 1 - EntrezGene HGNC:17303 - - - - - RefSeq - A A - tolerated(0.64) benign(0.024) 0.5421 - 0,1 0,1 17975119,16385451 - - - - - . 10:8514520-8514520 C non_coding_transcript_exon_variant MODIFIER KRT8P37 ENSG00000213771 Transcript ENST00000451609.1 processed_pseudogene 1/1 - - - 587 - - - - - - -1 - HGNC HGNC:39871 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:8514570-8514570 T non_coding_transcript_exon_variant MODIFIER KRT8P37 ENSG00000213771 Transcript ENST00000451609.1 processed_pseudogene 1/1 - - - 537 - - - - - - -1 - HGNC HGNC:39871 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:8514579-8514579 G non_coding_transcript_exon_variant MODIFIER KRT8P37 ENSG00000213771 Transcript ENST00000451609.1 processed_pseudogene 1/1 - - - 528 - - - - - - -1 - HGNC HGNC:39871 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:8514673-8514673 C non_coding_transcript_exon_variant MODIFIER KRT8P37 ENSG00000213771 Transcript ENST00000451609.1 processed_pseudogene 1/1 - - - 434 - - - - - - -1 - HGNC HGNC:39871 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:9724215-9724215 C non_coding_transcript_exon_variant MODIFIER HSP90AB7P ENSG00000235838 Transcript ENST00000450068.1 processed_pseudogene 1/1 - - - 202 - - - - rs76039884 - -1 - HGNC HGNC:44701 - - - - - Ensembl - G G - - - 0.1280 - - - - - - - - - . 10:9724215-9724215 C intron_variant,non_coding_transcript_variant MODIFIER LINC02663 105376402 Transcript XR_001747363.1 lncRNA - 2/7 - - - - - - - rs76039884 - -1 - EntrezGene HGNC:54149 - - - - - RefSeq - G G - - - 0.1280 - - - - - - - - - . 10:9724215-9724215 C intron_variant,non_coding_transcript_variant MODIFIER LINC02663 105376402 Transcript XR_930643.2 lncRNA - 3/8 - - - - - - - rs76039884 - -1 - EntrezGene HGNC:54149 - - - - - RefSeq - G G - - - 0.1280 - - - - - - - - - . 10:9724215-9724215 C intron_variant,non_coding_transcript_variant MODIFIER LINC02663 105376402 Transcript XR_930644.2 lncRNA - 3/9 - - - - - - - rs76039884 - -1 - EntrezGene HGNC:54149 - - - - - RefSeq - G G - - - 0.1280 - - - - - - - - - . 10:9724215-9724215 C intron_variant,non_coding_transcript_variant MODIFIER LINC02663 105376402 Transcript XR_930645.3 lncRNA - 3/8 - - - - - - - rs76039884 - -1 - EntrezGene HGNC:54149 - - - - - RefSeq - G G - - - 0.1280 - - - - - - - - - . 10:9724215-9724215 C intron_variant,non_coding_transcript_variant MODIFIER LINC02663 105376402 Transcript XR_930646.1 lncRNA - 3/8 - - - - - - - rs76039884 - -1 - EntrezGene HGNC:54149 - - - - - RefSeq - G G - - - 0.1280 - - - - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL ENSG00000148429 Transcript ENST00000277575.5 protein_coding - 6/13 - - - - - - - rs79865847,COSV53211774 - -1 - HGNC HGNC:16858 - - 5 - - Ensembl - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL ENSG00000148429 Transcript ENST00000379237.6 protein_coding - 6/13 - - - - - - - rs79865847,COSV53211774 - -1 - HGNC HGNC:16858 - - 5 - - Ensembl - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL ENSG00000148429 Transcript ENST00000609104.6 protein_coding - 7/14 - - - - - - - rs79865847,COSV53211774 - -1 - HGNC HGNC:16858 NM_014688.5 - 1 P1 - Ensembl - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript NM_001080491.5 protein_coding - 6/13 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript NM_001391959.1 protein_coding - 6/13 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript NM_001391960.1 protein_coding - 6/13 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript NM_001391961.1 protein_coding - 7/13 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript NM_014688.5 protein_coding - 7/14 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 ENST00000609104.6 - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript XM_006717542.4 protein_coding - 8/15 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript XM_011519762.3 protein_coding - 9/16 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript XM_011519763.3 protein_coding - 1/8 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript XM_017016971.2 protein_coding - 8/15 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript XM_024448263.2 protein_coding - 6/13 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript XM_047426036.1 protein_coding - 8/15 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript XM_047426037.1 protein_coding - 8/15 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A intron_variant MODIFIER USP6NL 9712 Transcript XM_047426038.1 protein_coding - 1/8 - - - - - - - rs79865847,COSV53211774 - -1 - EntrezGene HGNC:16858 - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11493276-11493276 A upstream_gene_variant MODIFIER LOC105376410 105376410 Transcript XR_007062053.1 lncRNA - - - - - - - - - rs79865847,COSV53211774 4307 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.0463 - 0,1 0,1 - - - - - - . 10:11747383-11747383 A missense_variant MODERATE ECHDC3 ENSG00000134463 Transcript ENST00000379215.9 protein_coding 2/5 - - - 400 205 69 A/T Gcg/Acg rs4750090 - 1 - HGNC HGNC:23489 NM_024693.5 - 1 P1 - Ensembl - G G - deleterious(0.01) possibly_damaging(0.843) 0.9135 - - - - - - - - - . 10:11747383-11747383 A missense_variant MODERATE ECHDC3 ENSG00000134463 Transcript ENST00000420401.5 protein_coding 2/4 - - - 495 364 122 A/T Gcg/Acg rs4750090 - 1 cds_end_NF HGNC HGNC:23489 - - 2 - - Ensembl - G G - deleterious(0.01) possibly_damaging(0.848) 0.9135 - - - - - - - - - . 10:11747383-11747383 A 5_prime_UTR_variant MODIFIER ECHDC3 ENSG00000134463 Transcript ENST00000422887.1 protein_coding 1/4 - - - 109 - - - - rs4750090 - 1 cds_end_NF HGNC HGNC:23489 - - 2 - - Ensembl - G G - - - 0.9135 - - - - - - - - - . 10:11747383-11747383 A upstream_gene_variant MODIFIER ECHDC3 ENSG00000134463 Transcript ENST00000495787.1 protein_coding_CDS_not_defined - - - - - - - - - rs4750090 67 1 - HGNC HGNC:23489 - - 3 - - Ensembl - G G - - - 0.9135 - - - - - - - - - . 10:11747383-11747383 A non_coding_transcript_exon_variant MODIFIER ECHDC3 ENSG00000134463 Transcript ENST00000496136.5 protein_coding_CDS_not_defined 2/6 - - - 416 - - - - rs4750090 - 1 - HGNC HGNC:23489 - - 1 - - Ensembl - G G - - - 0.9135 - - - - - - - - - . 10:11747383-11747383 A missense_variant MODERATE ECHDC3 79746 Transcript NM_024693.5 protein_coding 2/5 - - - 400 205 69 A/T Gcg/Acg rs4750090 - 1 - EntrezGene HGNC:23489 ENST00000379215.9 - - - - RefSeq - G G - deleterious(0.01) possibly_damaging(0.843) 0.9135 - - - - - - - - - . 10:11747383-11747383 A missense_variant MODERATE ECHDC3 79746 Transcript XM_011519689.1 protein_coding 2/4 - - - 400 205 69 A/T Gcg/Acg rs4750090 - 1 - EntrezGene HGNC:23489 - - - - - RefSeq - G G - - - 0.9135 - - - - - - - - - . 10:11747383-11747383 A missense_variant MODERATE ECHDC3 79746 Transcript XM_047425750.1 protein_coding 2/5 - - - 559 364 122 A/T Gcg/Acg rs4750090 - 1 - EntrezGene HGNC:23489 - - - - - RefSeq - G G - - - 0.9135 - - - - - - - - - . 10:11747383-11747383 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000396020 promoter - - - - - - - - - rs4750090 - - - - - - - - - - - - - - - - - 0.9135 - - - - - - - - - . 10:11747406-11747406 A synonymous_variant LOW ECHDC3 ENSG00000134463 Transcript ENST00000379215.9 protein_coding 2/5 - - - 423 228 76 K aaG/aaA rs4750091 - 1 - HGNC HGNC:23489 NM_024693.5 - 1 P1 - Ensembl - G G - - - 0.9223 - - - - - - - - - . 10:11747406-11747406 A synonymous_variant LOW ECHDC3 ENSG00000134463 Transcript ENST00000420401.5 protein_coding 2/4 - - - 518 387 129 K aaG/aaA rs4750091 - 1 cds_end_NF HGNC HGNC:23489 - - 2 - - Ensembl - G G - - - 0.9223 - - - - - - - - - . 10:11747406-11747406 A synonymous_variant LOW ECHDC3 ENSG00000134463 Transcript ENST00000422887.1 protein_coding 1/4 - - - 132 9 3 K aaG/aaA rs4750091 - 1 cds_end_NF HGNC HGNC:23489 - - 2 - - Ensembl - G G - - - 0.9223 - - - - - - - - - . 10:11747406-11747406 A upstream_gene_variant MODIFIER ECHDC3 ENSG00000134463 Transcript ENST00000495787.1 protein_coding_CDS_not_defined - - - - - - - - - rs4750091 44 1 - HGNC HGNC:23489 - - 3 - - Ensembl - G G - - - 0.9223 - - - - - - - - - . 10:11747406-11747406 A non_coding_transcript_exon_variant MODIFIER ECHDC3 ENSG00000134463 Transcript ENST00000496136.5 protein_coding_CDS_not_defined 2/6 - - - 439 - - - - rs4750091 - 1 - HGNC HGNC:23489 - - 1 - - Ensembl - G G - - - 0.9223 - - - - - - - - - . 10:11747406-11747406 A synonymous_variant LOW ECHDC3 79746 Transcript NM_024693.5 protein_coding 2/5 - - - 423 228 76 K aaG/aaA rs4750091 - 1 - EntrezGene HGNC:23489 ENST00000379215.9 - - - - RefSeq - G G - - - 0.9223 - - - - - - - - - . 10:11747406-11747406 A synonymous_variant LOW ECHDC3 79746 Transcript XM_011519689.1 protein_coding 2/4 - - - 423 228 76 K aaG/aaA rs4750091 - 1 - EntrezGene HGNC:23489 - - - - - RefSeq - G G - - - 0.9223 - - - - - - - - - . 10:11747406-11747406 A synonymous_variant LOW ECHDC3 79746 Transcript XM_047425750.1 protein_coding 2/5 - - - 582 387 129 K aaG/aaA rs4750091 - 1 - EntrezGene HGNC:23489 - - - - - RefSeq - G G - - - 0.9223 - - - - - - - - - . 10:11747406-11747406 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000396020 promoter - - - - - - - - - rs4750091 - - - - - - - - - - - - - - - - - 0.9223 - - - - - - - - - . 10:11747512-11747512 G intron_variant MODIFIER ECHDC3 ENSG00000134463 Transcript ENST00000379215.9 protein_coding - 2/4 - - - - - - - rs4750092 - 1 - HGNC HGNC:23489 NM_024693.5 - 1 P1 - Ensembl - C C - - - 0.9135 - - - - - - - - - . 10:11747512-11747512 G intron_variant MODIFIER ECHDC3 ENSG00000134463 Transcript ENST00000420401.5 protein_coding - 2/3 - - - - - - - rs4750092 - 1 cds_end_NF HGNC HGNC:23489 - - 2 - - Ensembl - C C - - - 0.9135 - - - - - - - - - . 10:11747512-11747512 G intron_variant MODIFIER ECHDC3 ENSG00000134463 Transcript ENST00000422887.1 protein_coding - 1/3 - - - - - - - rs4750092 - 1 cds_end_NF HGNC HGNC:23489 - - 2 - - Ensembl - C C - - - 0.9135 - - - - - - - - - . 10:11747512-11747512 G intron_variant,non_coding_transcript_variant MODIFIER ECHDC3 ENSG00000134463 Transcript ENST00000495787.1 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs4750092 - 1 - HGNC HGNC:23489 - - 3 - - Ensembl - C C - - - 0.9135 - - - - - - - - - . 10:11747512-11747512 G intron_variant,non_coding_transcript_variant MODIFIER ECHDC3 ENSG00000134463 Transcript ENST00000496136.5 protein_coding_CDS_not_defined - 2/5 - - - - - - - rs4750092 - 1 - HGNC HGNC:23489 - - 1 - - Ensembl - C C - - - 0.9135 - - - - - - - - - . 10:11747512-11747512 G intron_variant MODIFIER ECHDC3 79746 Transcript NM_024693.5 protein_coding - 2/4 - - - - - - - rs4750092 - 1 - EntrezGene HGNC:23489 ENST00000379215.9 - - - - RefSeq - C C - - - 0.9135 - - - - - - - - - . 10:11747512-11747512 G intron_variant MODIFIER ECHDC3 79746 Transcript XM_011519689.1 protein_coding - 2/3 - - - - - - - rs4750092 - 1 - EntrezGene HGNC:23489 - - - - - RefSeq - C C - - - 0.9135 - - - - - - - - - . 10:11747512-11747512 G intron_variant MODIFIER ECHDC3 79746 Transcript XM_047425750.1 protein_coding - 2/4 - - - - - - - rs4750092 - 1 - EntrezGene HGNC:23489 - - - - - RefSeq - C C - - - 0.9135 - - - - - - - - - . 10:11747512-11747512 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000396020 promoter - - - - - - - - - rs4750092 - - - - - - - - - - - - - - - - - 0.9135 - - - - - - - - - . 10:12029398-12029398 A synonymous_variant LOW UPF2 ENSG00000151461 Transcript ENST00000356352.6 protein_coding 2/21 - - - 966 492 164 L ctC/ctT rs11257490,COSV62658789,COSV62659196 - -1 - HGNC HGNC:17854 - - 1 P1 - Ensembl - G G - - - 0.2618 - 0,1,1 0,1,1 - - - - - - . 10:12029398-12029398 A synonymous_variant LOW UPF2 ENSG00000151461 Transcript ENST00000357604.10 protein_coding 3/22 - - - 565 492 164 L ctC/ctT rs11257490,COSV62658789,COSV62659196 - -1 - HGNC HGNC:17854 NM_015542.4 - 1 P1 - Ensembl - G G - - - 0.2618 - 0,1,1 0,1,1 - - - - - - . 10:12029398-12029398 A synonymous_variant LOW UPF2 ENSG00000151461 Transcript ENST00000397053.6 protein_coding 3/22 - - - 767 492 164 L ctC/ctT rs11257490,COSV62658789,COSV62659196 - -1 - HGNC HGNC:17854 - - 5 P1 - Ensembl - G G - - - 0.2618 - 0,1,1 0,1,1 - - - - - - . 10:12029398-12029398 A synonymous_variant LOW UPF2 26019 Transcript NM_015542.4 protein_coding 3/22 - - - 565 492 164 L ctC/ctT rs11257490,COSV62658789,COSV62659196 - -1 - EntrezGene HGNC:17854 ENST00000357604.10 - - - - RefSeq - G G - - - 0.2618 - 0,1,1 0,1,1 - - - - - - . 10:12029398-12029398 A synonymous_variant LOW UPF2 26019 Transcript NM_080599.3 protein_coding 3/22 - - - 767 492 164 L ctC/ctT rs11257490,COSV62658789,COSV62659196 - -1 - EntrezGene HGNC:17854 - - - - - RefSeq - G G - - - 0.2618 - 0,1,1 0,1,1 - - - - - - . 10:12029398-12029398 A synonymous_variant LOW UPF2 26019 Transcript XM_011519449.4 protein_coding 3/11 - - - 565 492 164 L ctC/ctT rs11257490,COSV62658789,COSV62659196 - -1 - EntrezGene HGNC:17854 - - - - - RefSeq - G G - - - 0.2618 - 0,1,1 0,1,1 - - - - - - . 10:12029398-12029398 A synonymous_variant LOW UPF2 26019 Transcript XM_047424986.1 protein_coding 3/21 - - - 565 492 164 L ctC/ctT rs11257490,COSV62658789,COSV62659196 - -1 - EntrezGene HGNC:17854 - - - - - RefSeq - G G - - - 0.2618 - 0,1,1 0,1,1 - - - - - - . 10:12029398-12029398 A synonymous_variant LOW UPF2 26019 Transcript XM_047424987.1 protein_coding 3/11 - - - 565 492 164 L ctC/ctT rs11257490,COSV62658789,COSV62659196 - -1 - EntrezGene HGNC:17854 - - - - - RefSeq - G G - - - 0.2618 - 0,1,1 0,1,1 - - - - - - . 10:12101106-12101106 G missense_variant MODERATE DHTKD1 ENSG00000181192 Transcript ENST00000263035.9 protein_coding 10/17 - - - 1901 1821 607 I/M atC/atG rs2062988,COSV53803677 - 1 - HGNC HGNC:23537 NM_018706.7 - 1 P1 - Ensembl - C C - tolerated(1) benign(0) 0.7240 benign 0,1 1,1 16385451 - - - - - . 10:12101106-12101106 G missense_variant MODERATE DHTKD1 ENSG00000181192 Transcript ENST00000448829.1 protein_coding 4/6 - - - 475 477 159 I/M atC/atG rs2062988,COSV53803677 - 1 cds_start_NF HGNC HGNC:23537 - - 5 - - Ensembl - C C - tolerated(1) benign(0.031) 0.7240 benign 0,1 1,1 16385451 - - - - - . 10:12101106-12101106 G downstream_gene_variant MODIFIER DHTKD1 ENSG00000181192 Transcript ENST00000465617.1 protein_coding_CDS_not_defined - - - - - - - - - rs2062988,COSV53803677 3148 1 - HGNC HGNC:23537 - - 3 - - Ensembl - C C - - - 0.7240 benign 0,1 1,1 16385451 - - - - - . 10:12101106-12101106 G missense_variant MODERATE DHTKD1 55526 Transcript NM_018706.7 protein_coding 10/17 - - - 1901 1821 607 I/M atC/atG rs2062988,COSV53803677 - 1 - EntrezGene HGNC:23537 ENST00000263035.9 - - - - RefSeq - C C - tolerated(1) benign(0) 0.7240 benign 0,1 1,1 16385451 - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER SEC61A2 ENSG00000065665 Transcript ENST00000298428.14 protein_coding - - - - - - - - - rs11257577,COSV58500721 4780 1 - HGNC HGNC:17702 NM_018144.4 - 1 P1 - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER SEC61A2 ENSG00000065665 Transcript ENST00000304267.12 protein_coding - - - - - - - - - rs11257577,COSV58500721 231 1 - HGNC HGNC:17702 - - 2 - - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER NUDT5 ENSG00000165609 Transcript ENST00000378927.7 protein_coding - - - - - - - - - rs11257577,COSV58500721 45 -1 - HGNC HGNC:8052 - - 2 - - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A intron_variant MODIFIER NUDT5 ENSG00000165609 Transcript ENST00000378937.7 protein_coding - 10/10 - - - - - - - rs11257577,COSV58500721 - -1 - HGNC HGNC:8052 - - 3 - - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A intron_variant MODIFIER NUDT5 ENSG00000165609 Transcript ENST00000378940.7 protein_coding - 9/9 - - - - - - - rs11257577,COSV58500721 - -1 - HGNC HGNC:8052 - - 5 - - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A intron_variant,non_coding_transcript_variant MODIFIER NUDT5 ENSG00000165609 Transcript ENST00000378952.7 protein_coding_CDS_not_defined - 10/10 - - - - - - - rs11257577,COSV58500721 - -1 - HGNC HGNC:8052 - - 5 - - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER SEC61A2 ENSG00000065665 Transcript ENST00000379020.8 protein_coding - - - - - - - - - rs11257577,COSV58500721 4775 1 - HGNC HGNC:17702 - - 5 - - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER SEC61A2 ENSG00000065665 Transcript ENST00000379033.7 protein_coding - - - - - - - - - rs11257577,COSV58500721 4783 1 - HGNC HGNC:17702 - - 2 - - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER SEC61A2 ENSG00000065665 Transcript ENST00000475268.5 nonsense_mediated_decay - - - - - - - - - rs11257577,COSV58500721 226 1 - HGNC HGNC:17702 - - 1 - - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A intron_variant,NMD_transcript_variant MODIFIER NUDT5 ENSG00000165609 Transcript ENST00000476462.5 nonsense_mediated_decay - 5/5 - - - - - - - rs11257577,COSV58500721 - -1 cds_start_NF HGNC HGNC:8052 - - 2 - - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A intron_variant MODIFIER NUDT5 ENSG00000165609 Transcript ENST00000491614.6 protein_coding - 9/9 - - - - - - - rs11257577,COSV58500721 - -1 - HGNC HGNC:8052 NM_014142.4 - 1 P1 - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER SEC61A2 ENSG00000065665 Transcript ENST00000495368.1 protein_coding_CDS_not_defined - - - - - - - - - rs11257577,COSV58500721 226 1 - HGNC HGNC:17702 - - 2 - - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER NUDT5 ENSG00000165609 Transcript ENST00000498825.1 protein_coding_CDS_not_defined - - - - - - - - - rs11257577,COSV58500721 2303 -1 - HGNC HGNC:8052 - - 2 - - Ensembl - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER SEC61A2 55176 Transcript NM_001142627.3 protein_coding - - - - - - - - - rs11257577,COSV58500721 229 1 - EntrezGene HGNC:17702 - - - - - RefSeq - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER SEC61A2 55176 Transcript NM_001142628.1 protein_coding - - - - - - - - - rs11257577,COSV58500721 4783 1 - EntrezGene HGNC:17702 - - - - - RefSeq - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A intron_variant MODIFIER NUDT5 11164 Transcript NM_001321647.2 protein_coding - 8/8 - - - - - - - rs11257577,COSV58500721 - -1 - EntrezGene HGNC:8052 - - - - - RefSeq - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A intron_variant MODIFIER NUDT5 11164 Transcript NM_001321648.2 protein_coding - 10/10 - - - - - - - rs11257577,COSV58500721 - -1 - EntrezGene HGNC:8052 - - - - - RefSeq - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A intron_variant MODIFIER NUDT5 11164 Transcript NM_014142.4 protein_coding - 9/9 - - - - - - - rs11257577,COSV58500721 - -1 - EntrezGene HGNC:8052 ENST00000491614.6 - - - - RefSeq - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER SEC61A2 55176 Transcript NM_018144.4 protein_coding - - - - - - - - - rs11257577,COSV58500721 4780 1 - EntrezGene HGNC:17702 ENST00000298428.14 - - - - RefSeq - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER SEC61A2 55176 Transcript NR_024576.3 misc_RNA - - - - - - - - - rs11257577,COSV58500721 229 1 - EntrezGene HGNC:17702 - - - - - RefSeq - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12170187-12170187 A downstream_gene_variant MODIFIER SEC61A2 55176 Transcript NR_024577.3 misc_RNA - - - - - - - - - rs11257577,COSV58500721 229 1 - EntrezGene HGNC:17702 - - - - - RefSeq - T T - - - 0.5224 - 0,1 0,1 - - - - - - . 10:12246303-12246303 G intron_variant MODIFIER CDC123 ENSG00000151465 Transcript ENST00000281141.9 protein_coding - 11/12 - - - - - - - rs36042706,COSV55399038 - 1 - HGNC HGNC:16827 NM_006023.3 - 1 P1 - Ensembl - A A - - - 0.4293 - 0,1 0,1 - - - - - - . 10:12246303-12246303 G intron_variant MODIFIER CDC123 ENSG00000151465 Transcript ENST00000378900.6 protein_coding - 10/11 - - - - - - - rs36042706,COSV55399038 - 1 - HGNC HGNC:16827 - - 5 - - Ensembl - A A - - - 0.4293 - 0,1 0,1 - - - - - - . 10:12246303-12246303 G non_coding_transcript_exon_variant MODIFIER - ENSG00000228302 Transcript ENST00000421657.1 lncRNA 2/2 - - - 1239 - - - - rs36042706,COSV55399038 - -1 - - - - - 5 - - Ensembl - A A - - - 0.4293 - 0,1 0,1 - - - - - - . 10:12246303-12246303 G intron_variant MODIFIER CDC123 ENSG00000151465 Transcript ENST00000440613.1 protein_coding - 5/5 - - - - - - - rs36042706,COSV55399038 - 1 cds_start_NF HGNC HGNC:16827 - - 5 - - Ensembl - A A - - - 0.4293 - 0,1 0,1 - - - - - - . 10:12246303-12246303 G intron_variant,non_coding_transcript_variant MODIFIER CDC123 ENSG00000151465 Transcript ENST00000455773.7 protein_coding_CDS_not_defined - 10/10 - - - - - - - rs36042706,COSV55399038 - 1 - HGNC HGNC:16827 - - 5 - - Ensembl - A A - - - 0.4293 - 0,1 0,1 - - - - - - . 10:12246303-12246303 G intron_variant,non_coding_transcript_variant MODIFIER CDC123 ENSG00000151465 Transcript ENST00000497963.1 retained_intron - 1/1 - - - - - - - rs36042706,COSV55399038 - 1 - HGNC HGNC:16827 - - 2 - - Ensembl - A A - - - 0.4293 - 0,1 0,1 - - - - - - . 10:12246303-12246303 G intron_variant,non_coding_transcript_variant MODIFIER CDC123 ENSG00000151465 Transcript ENST00000498747.1 protein_coding_CDS_not_defined - 7/8 - - - - - - - rs36042706,COSV55399038 - 1 - HGNC HGNC:16827 - - 3 - - Ensembl - A A - - - 0.4293 - 0,1 0,1 - - - - - - . 10:12246303-12246303 G upstream_gene_variant MODIFIER - ENSG00000228302 Transcript ENST00000598961.1 lncRNA - - - - - - - - - rs36042706,COSV55399038 145 -1 - - - - - 5 - - Ensembl - A A - - - 0.4293 - 0,1 0,1 - - - - - - . 10:12246303-12246303 G intron_variant MODIFIER CDC123 8872 Transcript NM_006023.3 protein_coding - 11/12 - - - - - - - rs36042706,COSV55399038 - 1 - EntrezGene HGNC:16827 ENST00000281141.9 - - - - RefSeq - A A - - - 0.4293 - 0,1 0,1 - - - - - - . 10:12246303-12246303 G intron_variant MODIFIER CDC123 8872 Transcript XM_005252638.5 protein_coding - 10/11 - - - - - - - rs36042706,COSV55399038 - 1 - EntrezGene HGNC:16827 - - - - - RefSeq - A A - - - 0.4293 - 0,1 0,1 - - - - - - . 10:12250566-12250566 A 3_prime_UTR_variant MODIFIER CDC123 ENSG00000151465 Transcript ENST00000281141.9 protein_coding 13/13 - - - 1298 - - - - rs12126,COSV55397366 - 1 - HGNC HGNC:16827 NM_006023.3 - 1 P1 - Ensembl - T T - - - 0.0573 - 0,1 0,1 - - - - - - . 10:12250566-12250566 A downstream_gene_variant MODIFIER CDC123 ENSG00000151465 Transcript ENST00000378900.6 protein_coding - - - - - - - - - rs12126,COSV55397366 207 1 - HGNC HGNC:16827 - - 5 - - Ensembl - T T - - - 0.0573 - 0,1 0,1 - - - - - - . 10:12250566-12250566 A upstream_gene_variant MODIFIER - ENSG00000228302 Transcript ENST00000421657.1 lncRNA - - - - - - - - - rs12126,COSV55397366 2721 -1 - - - - - 5 - - Ensembl - T T - - - 0.0573 - 0,1 0,1 - - - - - - . 10:12250566-12250566 A 3_prime_UTR_variant MODIFIER CDC123 ENSG00000151465 Transcript ENST00000440613.1 protein_coding 6/6 - - - 662 - - - - rs12126,COSV55397366 - 1 cds_start_NF HGNC HGNC:16827 - - 5 - - Ensembl - T T - - - 0.0573 - 0,1 0,1 - - - - - - . 10:12250566-12250566 A downstream_gene_variant MODIFIER CDC123 ENSG00000151465 Transcript ENST00000455773.7 protein_coding_CDS_not_defined - - - - - - - - - rs12126,COSV55397366 860 1 - HGNC HGNC:16827 - - 5 - - Ensembl - T T - - - 0.0573 - 0,1 0,1 - - - - - - . 10:12250566-12250566 A downstream_gene_variant MODIFIER CDC123 ENSG00000151465 Transcript ENST00000497963.1 retained_intron - - - - - - - - - rs12126,COSV55397366 247 1 - HGNC HGNC:16827 - - 2 - - Ensembl - T T - - - 0.0573 - 0,1 0,1 - - - - - - . 10:12250566-12250566 A downstream_gene_variant MODIFIER CDC123 ENSG00000151465 Transcript ENST00000498747.1 protein_coding_CDS_not_defined - - - - - - - - - rs12126,COSV55397366 37 1 - HGNC HGNC:16827 - - 3 - - Ensembl - T T - - - 0.0573 - 0,1 0,1 - - - - - - . 10:12250566-12250566 A upstream_gene_variant MODIFIER - ENSG00000228302 Transcript ENST00000598961.1 lncRNA - - - - - - - - - rs12126,COSV55397366 4408 -1 - - - - - 5 - - Ensembl - T T - - - 0.0573 - 0,1 0,1 - - - - - - . 10:12250566-12250566 A 3_prime_UTR_variant MODIFIER CDC123 8872 Transcript NM_006023.3 protein_coding 13/13 - - - 1298 - - - - rs12126,COSV55397366 - 1 - EntrezGene HGNC:16827 ENST00000281141.9 - - - - RefSeq - T T - - - 0.0573 - 0,1 0,1 - - - - - - . 10:12250566-12250566 A 3_prime_UTR_variant MODIFIER CDC123 8872 Transcript XM_005252638.5 protein_coding 12/12 - - - 1202 - - - - rs12126,COSV55397366 - 1 - EntrezGene HGNC:16827 - - - - - RefSeq - T T - - - 0.0573 - 0,1 0,1 - - - - - - . 10:12825599-12825599 G synonymous_variant LOW CAMK1D ENSG00000183049 Transcript ENST00000378845.5 protein_coding 10/10 - - - 1034 948 316 V gtC/gtG rs1757051 - 1 - HGNC HGNC:19341 - - 1 - - Ensembl - C C - - - 0.7740 - - - 27035118 - - - - - . 10:12825599-12825599 G synonymous_variant LOW CAMK1D ENSG00000183049 Transcript ENST00000619168.5 protein_coding 10/11 - - - 1220 948 316 V gtC/gtG rs1757051 - 1 - HGNC HGNC:19341 NM_153498.4 - 1 P1 - Ensembl - C C - - - 0.7740 - - - 27035118 - - - - - . 10:12825599-12825599 G synonymous_variant LOW CAMK1D 57118 Transcript NM_001351032.2 protein_coding 12/12 - - - 1359 657 219 V gtC/gtG rs1757051 - 1 - EntrezGene HGNC:19341 - - - - - RefSeq - C C - - - 0.7740 - - - 27035118 - - - - - . 10:12825599-12825599 G synonymous_variant LOW CAMK1D 57118 Transcript NM_020397.4 protein_coding 10/10 - - - 1220 948 316 V gtC/gtG rs1757051 - 1 - EntrezGene HGNC:19341 - - - - - RefSeq - C C - - - 0.7740 - - - 27035118 - - - - - . 10:12825599-12825599 G synonymous_variant LOW CAMK1D 57118 Transcript NM_153498.4 protein_coding 10/11 - - - 1220 948 316 V gtC/gtG rs1757051 - 1 - EntrezGene HGNC:19341 ENST00000619168.5 - - - - RefSeq - C C - - - 0.7740 - - - 27035118 - - - - - . 10:12825599-12825599 G synonymous_variant LOW CAMK1D 57118 Transcript XM_006717482.4 protein_coding 10/11 - - - 1220 948 316 V gtC/gtG rs1757051 - 1 - EntrezGene HGNC:19341 - - - - - RefSeq - C C - - - 0.7740 - - - 27035118 - - - - - . 10:12825599-12825599 G synonymous_variant LOW CAMK1D 57118 Transcript XM_006717483.5 protein_coding 10/11 - - - 1220 948 316 V gtC/gtG rs1757051 - 1 - EntrezGene HGNC:19341 - - - - - RefSeq - C C - - - 0.7740 - - - 27035118 - - - - - . 10:12825599-12825599 G synonymous_variant LOW CAMK1D 57118 Transcript XM_011519591.4 protein_coding 10/11 - - - 932 909 303 V gtC/gtG rs1757051 - 1 - EntrezGene HGNC:19341 - - - - - RefSeq - C C - - - 0.7740 - - - 27035118 - - - - - . 10:12825599-12825599 G synonymous_variant LOW CAMK1D 57118 Transcript XM_011519592.4 protein_coding 9/10 - - - 1858 738 246 V gtC/gtG rs1757051 - 1 - EntrezGene HGNC:19341 - - - - - RefSeq - C C - - - 0.7740 - - - 27035118 - - - - - . 10:12825599-12825599 G synonymous_variant LOW CAMK1D 57118 Transcript XM_011519593.4 protein_coding 9/10 - - - 1906 726 242 V gtC/gtG rs1757051 - 1 - EntrezGene HGNC:19341 - - - - - RefSeq - C C - - - 0.7740 - - - 27035118 - - - - - . 10:12825599-12825599 G synonymous_variant LOW CAMK1D 57118 Transcript XM_011519595.4 protein_coding 9/10 - - - 788 657 219 V gtC/gtG rs1757051 - 1 - EntrezGene HGNC:19341 - - - - - RefSeq - C C - - - 0.7740 - - - 27035118 - - - - - . 10:12825599-12825599 G synonymous_variant LOW CAMK1D 57118 Transcript XM_047425537.1 protein_coding 11/12 - - - 2142 657 219 V gtC/gtG rs1757051 - 1 - EntrezGene HGNC:19341 - - - - - RefSeq - C C - - - 0.7740 - - - 27035118 - - - - - . 10:13058269-13058269 A intron_variant MODIFIER CCDC3 ENSG00000151468 Transcript ENST00000378839.1 protein_coding - 4/6 - - - - - - - rs9787488,COSV66586233 - -1 - HGNC HGNC:23813 - - 2 - - Ensembl - C C - - - 0.1721 - 0,1 1,1 34417442 - - - - - . 10:13058269-13058269 A non_coding_transcript_exon_variant MODIFIER RPL5P25 ENSG00000225251 Transcript ENST00000441148.1 processed_pseudogene 1/1 - - - 408 - - - - rs9787488,COSV66586233 - -1 - HGNC HGNC:35493 - - - - - Ensembl - C C - - - 0.1721 - 0,1 1,1 34417442 - - - - - . 10:13058269-13058269 A intron_variant MODIFIER CCDC3 83643 Transcript NM_001282658.2 protein_coding - 4/6 - - - - - - - rs9787488,COSV66586233 - -1 - EntrezGene HGNC:23813 - - - - - RefSeq - C C - - - 0.1721 - 0,1 1,1 34417442 - - - - - . 10:13188837-13188837 G intron_variant MODIFIER MCM10 ENSG00000065328 Transcript ENST00000378694.1 protein_coding - 8/17 - - - - - - - rs6602641,COSV66333112 - 1 - HGNC HGNC:18043 - - 5 - - Ensembl - A A - - - 0.3692 - 0,1 0,1 - - - - - - . 10:13188837-13188837 G intron_variant MODIFIER MCM10 ENSG00000065328 Transcript ENST00000378714.8 protein_coding - 9/19 - - - - - - - rs6602641,COSV66333112 - 1 - HGNC HGNC:18043 NM_018518.5 - 1 P4 - Ensembl - A A - - - 0.3692 - 0,1 0,1 - - - - - - . 10:13188837-13188837 G upstream_gene_variant MODIFIER MCM10 ENSG00000065328 Transcript ENST00000459751.1 retained_intron - - - - - - - - - rs6602641,COSV66333112 3654 1 - HGNC HGNC:18043 - - 3 - - Ensembl - A A - - - 0.3692 - 0,1 0,1 - - - - - - . 10:13188837-13188837 G intron_variant MODIFIER MCM10 ENSG00000065328 Transcript ENST00000484800.6 protein_coding - 9/19 - - - - - - - rs6602641,COSV66333112 - 1 - HGNC HGNC:18043 - - 1 A1 - Ensembl - A A - - - 0.3692 - 0,1 0,1 - - - - - - . 10:13188837-13188837 G intron_variant MODIFIER MCM10 55388 Transcript NM_018518.5 protein_coding - 9/19 - - - - - - - rs6602641,COSV66333112 - 1 - EntrezGene HGNC:18043 ENST00000378714.8 - - - - RefSeq - A A - - - 0.3692 - 0,1 0,1 - - - - - - . 10:13188837-13188837 G intron_variant MODIFIER MCM10 55388 Transcript NM_182751.3 protein_coding - 9/19 - - - - - - - rs6602641,COSV66333112 - 1 - EntrezGene HGNC:18043 - - - - - RefSeq - A A - - - 0.3692 - 0,1 0,1 - - - - - - . 10:13188837-13188837 G intron_variant MODIFIER MCM10 55388 Transcript XM_011519538.3 protein_coding - 9/19 - - - - - - - rs6602641,COSV66333112 - 1 - EntrezGene HGNC:18043 - - - - - RefSeq - A A - - - 0.3692 - 0,1 0,1 - - - - - - . 10:13188837-13188837 G intron_variant MODIFIER MCM10 55388 Transcript XM_047425437.1 protein_coding - 9/19 - - - - - - - rs6602641,COSV66333112 - 1 - EntrezGene HGNC:18043 - - - - - RefSeq - A A - - - 0.3692 - 0,1 0,1 - - - - - - . 10:13283946-13283946 T intron_variant MODIFIER PHYH ENSG00000107537 Transcript ENST00000263038.9 protein_coding - 6/8 - - - - - - - rs648173,COSV53815999 - -1 - HGNC HGNC:8940 NM_006214.4 - 1 P1 - Ensembl - C C - - - 0.6216 benign 0,1 1,1 - - - - - - . 10:13283946-13283946 T intron_variant MODIFIER PHYH ENSG00000107537 Transcript ENST00000396913.6 protein_coding - 5/7 - - - - - - - rs648173,COSV53815999 - -1 - HGNC HGNC:8940 - - 5 - - Ensembl - C C - - - 0.6216 benign 0,1 1,1 - - - - - - . 10:13283946-13283946 T intron_variant MODIFIER PHYH ENSG00000107537 Transcript ENST00000396920.7 protein_coding - 6/8 - - - - - - - rs648173,COSV53815999 - -1 - HGNC HGNC:8940 - - 5 - - Ensembl - C C - - - 0.6216 benign 0,1 1,1 - - - - - - . 10:13283946-13283946 T intron_variant MODIFIER PHYH ENSG00000107537 Transcript ENST00000453759.6 protein_coding - 6/6 - - - - - - - rs648173,COSV53815999 - -1 cds_end_NF HGNC HGNC:8940 - - 5 - - Ensembl - C C - - - 0.6216 benign 0,1 1,1 - - - - - - . 10:13283946-13283946 T downstream_gene_variant MODIFIER PHYH ENSG00000107537 Transcript ENST00000479604.1 protein_coding - - - - - - - - - rs648173,COSV53815999 4466 -1 cds_end_NF HGNC HGNC:8940 - - 3 - - Ensembl - C C - - - 0.6216 benign 0,1 1,1 - - - - - - . 10:13283946-13283946 T intron_variant MODIFIER PHYH 5264 Transcript NM_001037537.2 protein_coding - 5/7 - - - - - - - rs648173,COSV53815999 - -1 - EntrezGene HGNC:8940 - - - - - RefSeq - C C - - - 0.6216 benign 0,1 1,1 - - - - - - . 10:13283946-13283946 T intron_variant MODIFIER PHYH 5264 Transcript NM_001323080.2 protein_coding - 6/8 - - - - - - - rs648173,COSV53815999 - -1 - EntrezGene HGNC:8940 - - - - - RefSeq - C C - - - 0.6216 benign 0,1 1,1 - - - - - - . 10:13283946-13283946 T intron_variant MODIFIER PHYH 5264 Transcript NM_001323082.2 protein_coding - 6/8 - - - - - - - rs648173,COSV53815999 - -1 - EntrezGene HGNC:8940 - - - - - RefSeq - C C - - - 0.6216 benign 0,1 1,1 - - - - - - . 10:13283946-13283946 T intron_variant MODIFIER PHYH 5264 Transcript NM_001323083.2 protein_coding - 4/6 - - - - - - - rs648173,COSV53815999 - -1 - EntrezGene HGNC:8940 - - - - - RefSeq - C C - - - 0.6216 benign 0,1 1,1 - - - - - - . 10:13283946-13283946 T intron_variant MODIFIER PHYH 5264 Transcript NM_001323084.2 protein_coding - 5/7 - - - - - - - rs648173,COSV53815999 - -1 - EntrezGene HGNC:8940 - - - - - RefSeq - C C - - - 0.6216 benign 0,1 1,1 - - - - - - . 10:13283946-13283946 T intron_variant MODIFIER PHYH 5264 Transcript NM_006214.4 protein_coding - 6/8 - - - - - - - rs648173,COSV53815999 - -1 - EntrezGene HGNC:8940 ENST00000263038.9 - - - - RefSeq - C C - - - 0.6216 benign 0,1 1,1 - - - - - - . 10:13295588-13295588 A synonymous_variant LOW PHYH ENSG00000107537 Transcript ENST00000263038.9 protein_coding 3/9 - - - 175 153 51 N aaC/aaT rs1747682 - -1 - HGNC HGNC:8940 NM_006214.4 - 1 P1 - Ensembl - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A 5_prime_UTR_variant MODIFIER PHYH ENSG00000107537 Transcript ENST00000396913.6 protein_coding 2/8 - - - 363 - - - - rs1747682 - -1 - HGNC HGNC:8940 - - 5 - - Ensembl - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A synonymous_variant LOW PHYH ENSG00000107537 Transcript ENST00000396920.7 protein_coding 3/9 - - - 501 96 32 N aaC/aaT rs1747682 - -1 - HGNC HGNC:8940 - - 5 - - Ensembl - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A 5_prime_UTR_variant MODIFIER PHYH ENSG00000107537 Transcript ENST00000453759.6 protein_coding 3/7 - - - 208 - - - - rs1747682 - -1 cds_end_NF HGNC HGNC:8940 - - 5 - - Ensembl - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A non_coding_transcript_exon_variant MODIFIER PHYH ENSG00000107537 Transcript ENST00000463730.1 retained_intron 3/3 - - - 208 - - - - rs1747682 - -1 - HGNC HGNC:8940 - - 2 - - Ensembl - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A upstream_gene_variant MODIFIER PHYH ENSG00000107537 Transcript ENST00000464049.1 retained_intron - - - - - - - - - rs1747682 601 -1 - HGNC HGNC:8940 - - 2 - - Ensembl - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A synonymous_variant LOW PHYH ENSG00000107537 Transcript ENST00000479604.1 protein_coding 3/6 - - - 163 153 51 N aaC/aaT rs1747682 - -1 cds_end_NF HGNC HGNC:8940 - - 3 - - Ensembl - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A 5_prime_UTR_variant MODIFIER PHYH 5264 Transcript NM_001037537.2 protein_coding 2/8 - - - 363 - - - - rs1747682 - -1 - EntrezGene HGNC:8940 - - - - - RefSeq - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A 5_prime_UTR_variant MODIFIER PHYH 5264 Transcript NM_001323080.2 protein_coding 3/9 - - - 422 - - - - rs1747682 - -1 - EntrezGene HGNC:8940 - - - - - RefSeq - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A synonymous_variant LOW PHYH 5264 Transcript NM_001323082.2 protein_coding 3/9 - - - 175 153 51 N aaC/aaT rs1747682 - -1 - EntrezGene HGNC:8940 - - - - - RefSeq - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A synonymous_variant LOW PHYH 5264 Transcript NM_001323083.2 protein_coding 3/7 - - - 175 153 51 N aaC/aaT rs1747682 - -1 - EntrezGene HGNC:8940 - - - - - RefSeq - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A 5_prime_UTR_variant MODIFIER PHYH 5264 Transcript NM_001323084.2 protein_coding 2/8 - - - 363 - - - - rs1747682 - -1 - EntrezGene HGNC:8940 - - - - - RefSeq - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A synonymous_variant LOW PHYH 5264 Transcript NM_006214.4 protein_coding 3/9 - - - 175 153 51 N aaC/aaT rs1747682 - -1 - EntrezGene HGNC:8940 ENST00000263038.9 - - - - RefSeq - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13295588-13295588 A upstream_gene_variant MODIFIER LOC124902377 124902377 Transcript XR_007062056.1 lncRNA - - - - - - - - - rs1747682 4601 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.9724 benign - 1 25741868 - - - - - . 10:13319237-13319237 A missense_variant MODERATE SEPHS1 ENSG00000086475 Transcript ENST00000327347.10 protein_coding 9/9 - - - 1456 1084 362 R/C Cgc/Tgc rs555055285 - -1 - HGNC HGNC:19685 NM_012247.5 - 1 P1 - Ensembl - G G - deleterious(0.03) probably_damaging(0.999) 0.0002 - - - - - - - - - . 10:13319237-13319237 A missense_variant MODERATE SEPHS1 ENSG00000086475 Transcript ENST00000378614.8 protein_coding 8/8 - - - 1230 871 291 R/C Cgc/Tgc rs555055285 - -1 - HGNC HGNC:19685 - - 1 - - Ensembl - G G - deleterious(0) possibly_damaging(0.861) 0.0002 - - - - - - - - - . 10:13319237-13319237 A missense_variant MODERATE SEPHS1 ENSG00000086475 Transcript ENST00000545675.5 protein_coding 8/8 - - - 1190 883 295 R/C Cgc/Tgc rs555055285 - -1 - HGNC HGNC:19685 - - 1 - - Ensembl - G G - deleterious(0.04) probably_damaging(0.999) 0.0002 - - - - - - - - - . 10:13319237-13319237 A missense_variant MODERATE SEPHS1 22929 Transcript NM_001195602.2 protein_coding 8/8 - - - 1185 883 295 R/C Cgc/Tgc rs555055285 - -1 - EntrezGene HGNC:19685 - - - - - RefSeq - G G - deleterious(0.04) probably_damaging(0.999) 0.0002 - - - - - - - - - . 10:13319237-13319237 A missense_variant MODERATE SEPHS1 22929 Transcript NM_001195604.2 protein_coding 8/8 - - - 1243 871 291 R/C Cgc/Tgc rs555055285 - -1 - EntrezGene HGNC:19685 - - - - - RefSeq - G G - deleterious(0) possibly_damaging(0.861) 0.0002 - - - - - - - - - . 10:13319237-13319237 A missense_variant MODERATE SEPHS1 22929 Transcript NM_001375769.1 protein_coding 9/9 - - - 1450 1078 360 R/C Cgc/Tgc rs555055285 - -1 - EntrezGene HGNC:19685 - - - - - RefSeq - G G - deleterious(0.03) probably_damaging(0.994) 0.0002 - - - - - - - - - . 10:13319237-13319237 A missense_variant MODERATE SEPHS1 22929 Transcript NM_012247.5 protein_coding 9/9 - - - 1456 1084 362 R/C Cgc/Tgc rs555055285 - -1 - EntrezGene HGNC:19685 ENST00000327347.10 - - - - RefSeq - G G - deleterious(0.03) probably_damaging(0.999) 0.0002 - - - - - - - - - . 10:13319237-13319237 A non_coding_transcript_exon_variant MODIFIER SEPHS1 22929 Transcript NR_164738.1 misc_RNA 10/10 - - - 1674 - - - - rs555055285 - -1 - EntrezGene HGNC:19685 - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:13319237-13319237 A missense_variant MODERATE SEPHS1 22929 Transcript XM_047424839.1 protein_coding 9/9 - - - 1585 1084 362 R/C Cgc/Tgc rs555055285 - -1 - EntrezGene HGNC:19685 - - - - - RefSeq - G G - deleterious(0.03) probably_damaging(0.999) 0.0002 - - - - - - - - - . 10:13319237-13319237 A missense_variant MODERATE SEPHS1 22929 Transcript XM_047424840.1 protein_coding 9/9 - - - 1579 1078 360 R/C Cgc/Tgc rs555055285 - -1 - EntrezGene HGNC:19685 - - - - - RefSeq - G G - deleterious(0.03) probably_damaging(0.994) 0.0002 - - - - - - - - - . 10:13319237-13319237 A missense_variant MODERATE SEPHS1 22929 Transcript XM_047424841.1 protein_coding 8/8 - - - 1179 877 293 R/C Cgc/Tgc rs555055285 - -1 - EntrezGene HGNC:19685 - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000341083.7 protein_coding 7/9 - - - 1269 972 324 V gtA/gtG rs2277222,COSV61987874 - -1 - HGNC HGNC:23514 - - 2 A2 - Ensembl - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000378605.3 protein_coding 6/8 - - - 1107 1011 337 V gtA/gtG rs2277222,COSV61987874 - -1 - HGNC HGNC:23514 - - 1 A2 - Ensembl - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000440282.5 protein_coding 2/3 - - - 240 240 80 V gtA/gtG rs2277222,COSV61987874 - -1 cds_start_NF HGNC HGNC:23514 - - 1 - - Ensembl - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000463303.5 protein_coding 1/3 - - - 44 45 15 V gtA/gtG rs2277222,COSV61987874 - -1 cds_start_NF HGNC HGNC:23514 - - 5 - - Ensembl - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000466271.3 protein_coding 7/9 - - - 1609 1128 376 V gtA/gtG rs2277222,COSV61987874 - -1 - HGNC HGNC:23514 NM_001369863.1 - 5 P2 - Ensembl - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000469555.1 protein_coding 2/5 - - - 143 144 48 V gtA/gtG rs2277222,COSV61987874 - -1 cds_start_NF HGNC HGNC:23514 - - 3 - - Ensembl - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000480703.2 protein_coding 5/7 - - - 765 765 255 V gtA/gtG rs2277222,COSV61987874 - -1 cds_start_NF HGNC HGNC:23514 - - 5 - - Ensembl - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C non_coding_transcript_exon_variant MODIFIER BEND7 ENSG00000165626 Transcript ENST00000486542.5 protein_coding_CDS_not_defined 2/4 - - - 644 - - - - rs2277222,COSV61987874 - -1 - HGNC HGNC:23514 - - 2 - - Ensembl - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000683141.1 protein_coding 5/7 - - - 901 903 301 V gtA/gtG rs2277222,COSV61987874 - -1 cds_start_NF HGNC HGNC:23514 - - - - - Ensembl - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C missense_variant,NMD_transcript_variant MODERATE BEND7 ENSG00000165626 Transcript ENST00000688845.1 nonsense_mediated_decay 4/6 - - - 669 671 224 Y/C tAc/tGc rs2277222,COSV61987874 - -1 cds_start_NF HGNC HGNC:23514 - - - - - Ensembl - T T - tolerated_low_confidence(0.06) unknown(0) 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000689161.1 protein_coding 6/9 - - - 1017 1017 339 V gtA/gtG rs2277222,COSV61987874 - -1 cds_start_NF HGNC HGNC:23514 - - - - - Ensembl - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C non_coding_transcript_exon_variant MODIFIER BEND7 ENSG00000165626 Transcript ENST00000689491.1 retained_intron 4/6 - - - 746 - - - - rs2277222,COSV61987874 - -1 - HGNC HGNC:23514 - - - - - Ensembl - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript NM_001100912.2 protein_coding 6/8 - - - 1755 1011 337 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript NM_001369863.1 protein_coding 7/9 - - - 1609 1128 376 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 ENST00000466271.3 - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript NM_001370075.2 protein_coding 7/10 - - - 1609 1128 376 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript NM_001378149.1 protein_coding 7/9 - - - 1609 1128 376 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript NM_001378150.1 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript NM_001378151.1 protein_coding 7/9 - - - 1609 1128 376 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript NM_001387359.1 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript NM_152751.3 protein_coding 7/9 - - - 1886 972 324 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_005252402.6 protein_coding 7/9 - - - 1609 1128 376 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519390.3 protein_coding 7/9 - - - 1478 1011 337 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519391.3 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519392.3 protein_coding 7/9 - - - 1609 1128 376 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519393.4 protein_coding 6/8 - - - 1564 1083 361 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519395.3 protein_coding 6/8 - - - 1755 1011 337 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519396.3 protein_coding 7/9 - - - 1846 1011 337 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519398.3 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519399.3 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519400.3 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519402.3 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519403.3 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519404.4 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519407.2 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_011519411.3 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424785.1 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424786.1 protein_coding 7/9 - - - 1309 1110 370 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424787.1 protein_coding 7/9 - - - 1190 1011 337 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424788.1 protein_coding 7/9 - - - 1464 1011 337 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424789.1 protein_coding 8/10 - - - 1584 1011 337 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424790.1 protein_coding 8/10 - - - 1569 1011 337 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424792.1 protein_coding 8/10 - - - 1754 1011 337 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424793.1 protein_coding 6/8 - - - 1046 1011 337 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424794.1 protein_coding 7/9 - - - 1609 1128 376 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424795.1 protein_coding 7/9 - - - 1609 1128 376 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424796.1 protein_coding 7/10 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424797.1 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424798.1 protein_coding 7/10 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424799.1 protein_coding 7/9 - - - 1648 1167 389 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424800.1 protein_coding 7/9 - - - 1609 1128 376 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C synonymous_variant LOW BEND7 222389 Transcript XM_047424801.1 protein_coding 6/8 - - - 1525 1044 348 V gtA/gtG rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C 3_prime_UTR_variant MODIFIER BEND7 222389 Transcript XM_047424803.1 protein_coding 7/7 - - - 1644 - - - - rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_002956968.2 misc_RNA 6/8 - - - 1422 - - - - rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_002956969.2 misc_RNA 6/8 - - - 1422 - - - - rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_002956970.2 misc_RNA 6/9 - - - 1422 - - - - rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_007061948.1 misc_RNA 6/9 - - - 1422 - - - - rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_007061949.1 misc_RNA 6/8 - - - 1422 - - - - rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_930472.2 misc_RNA 8/8 - - - 6458 - - - - rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13452594-13452594 C non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_930476.3 misc_RNA 6/8 - - - 1422 - - - - rs2277222,COSV61987874 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - T T - - - 0.3564 - 0,1 0,1 - - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000341083.7 protein_coding 5/9 - - - 738 441 147 P ccT/ccC rs2251555,COSV61987912 - -1 - HGNC HGNC:23514 - - 2 A2 - Ensembl - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000378605.3 protein_coding 4/8 - - - 576 480 160 P ccT/ccC rs2251555,COSV61987912 - -1 - HGNC HGNC:23514 - - 1 A2 - Ensembl - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000466271.3 protein_coding 5/9 - - - 1078 597 199 P ccT/ccC rs2251555,COSV61987912 - -1 - HGNC HGNC:23514 NM_001369863.1 - 5 P2 - Ensembl - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000480703.2 protein_coding 3/7 - - - 234 234 78 P ccT/ccC rs2251555,COSV61987912 - -1 cds_start_NF HGNC HGNC:23514 - - 5 - - Ensembl - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER BEND7 ENSG00000165626 Transcript ENST00000649551.3 nonsense_mediated_decay 6/7 - - - 730 - - - - rs2251555,COSV61987912 - -1 cds_start_NF HGNC HGNC:23514 - - - - - Ensembl - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000683141.1 protein_coding 3/7 - - - 370 372 124 P ccT/ccC rs2251555,COSV61987912 - -1 cds_start_NF HGNC HGNC:23514 - - - - - Ensembl - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant,NMD_transcript_variant LOW BEND7 ENSG00000165626 Transcript ENST00000688845.1 nonsense_mediated_decay 3/6 - - - 364 366 122 P ccT/ccC rs2251555,COSV61987912 - -1 cds_start_NF HGNC HGNC:23514 - - - - - Ensembl - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 ENSG00000165626 Transcript ENST00000689161.1 protein_coding 4/9 - - - 486 486 162 P ccT/ccC rs2251555,COSV61987912 - -1 cds_start_NF HGNC HGNC:23514 - - - - - Ensembl - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G non_coding_transcript_exon_variant MODIFIER BEND7 ENSG00000165626 Transcript ENST00000689491.1 retained_intron 2/6 - - - 215 - - - - rs2251555,COSV61987912 - -1 - HGNC HGNC:23514 - - - - - Ensembl - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript NM_001100912.2 protein_coding 4/8 - - - 1224 480 160 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript NM_001369863.1 protein_coding 5/9 - - - 1078 597 199 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 ENST00000466271.3 - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript NM_001370075.2 protein_coding 5/10 - - - 1078 597 199 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript NM_001378149.1 protein_coding 5/9 - - - 1078 597 199 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript NM_001378150.1 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript NM_001378151.1 protein_coding 5/9 - - - 1078 597 199 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript NM_001387359.1 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript NM_152751.3 protein_coding 5/9 - - - 1355 441 147 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_005252402.6 protein_coding 5/9 - - - 1078 597 199 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519390.3 protein_coding 5/9 - - - 947 480 160 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519391.3 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519392.3 protein_coding 5/9 - - - 1078 597 199 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519393.4 protein_coding 4/8 - - - 1033 552 184 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519395.3 protein_coding 4/8 - - - 1224 480 160 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519396.3 protein_coding 5/9 - - - 1315 480 160 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519398.3 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519399.3 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519400.3 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519402.3 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519403.3 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519404.4 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519407.2 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519411.3 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_011519412.2 protein_coding 5/7 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424785.1 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424786.1 protein_coding 5/9 - - - 778 579 193 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424787.1 protein_coding 5/9 - - - 659 480 160 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424788.1 protein_coding 5/9 - - - 933 480 160 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424789.1 protein_coding 6/10 - - - 1053 480 160 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424790.1 protein_coding 6/10 - - - 1038 480 160 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424792.1 protein_coding 6/10 - - - 1223 480 160 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424793.1 protein_coding 4/8 - - - 515 480 160 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424794.1 protein_coding 5/9 - - - 1078 597 199 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424795.1 protein_coding 5/9 - - - 1078 597 199 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424796.1 protein_coding 5/10 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424797.1 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424798.1 protein_coding 5/10 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424799.1 protein_coding 5/9 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424800.1 protein_coding 5/9 - - - 1078 597 199 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424801.1 protein_coding 4/8 - - - 994 513 171 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G synonymous_variant LOW BEND7 222389 Transcript XM_047424803.1 protein_coding 5/7 - - - 1117 636 212 P ccT/ccC rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_002956968.2 misc_RNA 5/8 - - - 1117 - - - - rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_002956969.2 misc_RNA 5/8 - - - 1117 - - - - rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_002956970.2 misc_RNA 5/9 - - - 1117 - - - - rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_007061948.1 misc_RNA 5/9 - - - 1117 - - - - rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_007061949.1 misc_RNA 5/8 - - - 1117 - - - - rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_930472.2 misc_RNA 5/8 - - - 1117 - - - - rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13492851-13492851 G non_coding_transcript_exon_variant MODIFIER BEND7 222389 Transcript XR_930476.3 misc_RNA 5/8 - - - 1117 - - - - rs2251555,COSV61987912 - -1 - EntrezGene HGNC:23514 - - - - - RefSeq - A A - - - 0.4806 - 0,1 1,1 35835914 - - - - - . 10:13611653-13611653 G downstream_gene_variant MODIFIER PRPF18 ENSG00000165630 Transcript ENST00000320054.4 protein_coding - - - - - - - - - rs1135102,COSV60726273 1 1 cds_end_NF HGNC HGNC:17351 - - 5 - - Ensembl - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 ENSG00000165630 Transcript ENST00000378572.8 protein_coding 6/10 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - HGNC HGNC:17351 NM_003675.4 - 1 P1 - Ensembl - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 ENSG00000165630 Transcript ENST00000417658.5 protein_coding 8/10 - - - 845 531 177 K aaA/aaG rs1135102,COSV60726273 - 1 cds_end_NF HGNC HGNC:17351 - - 5 - - Ensembl - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G upstream_gene_variant MODIFIER PRPF18 ENSG00000165630 Transcript ENST00000595538.5 nonsense_mediated_decay - - - - - - - - - rs1135102,COSV60726273 4878 1 cds_start_NF HGNC HGNC:17351 - - 5 - - Ensembl - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 ENSG00000165630 Transcript ENST00000601460.5 protein_coding 2/7 - - - 178 180 60 K aaA/aaG rs1135102,COSV60726273 - 1 cds_start_NF HGNC HGNC:17351 - - 5 - - Ensembl - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395875.1 protein_coding 7/11 - - - 698 576 192 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395876.1 protein_coding 8/12 - - - 819 531 177 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395877.1 protein_coding 6/11 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395878.1 protein_coding 7/11 - - - 792 504 168 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395879.1 protein_coding 6/9 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395880.1 protein_coding 7/10 - - - 698 576 192 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395881.1 protein_coding 6/9 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395882.1 protein_coding 6/10 - - - 678 390 130 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395883.1 protein_coding 8/11 - - - 819 531 177 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395884.1 protein_coding 6/8 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395885.1 protein_coding 6/10 - - - 702 321 107 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395886.1 protein_coding 6/10 - - - 664 321 107 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_001395887.1 protein_coding 7/9 - - - 792 504 168 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript NM_003675.4 protein_coding 6/10 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 ENST00000378572.8 - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G non_coding_transcript_exon_variant MODIFIER PRPF18 8559 Transcript NR_172904.1 misc_RNA 6/12 - - - 671 - - - - rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G non_coding_transcript_exon_variant MODIFIER PRPF18 8559 Transcript NR_172905.1 misc_RNA 6/19 - - - 671 - - - - rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G non_coding_transcript_exon_variant MODIFIER PRPF18 8559 Transcript NR_172906.1 misc_RNA 6/18 - - - 671 - - - - rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425923.1 protein_coding 6/11 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425924.1 protein_coding 6/15 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425925.1 protein_coding 6/17 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425926.1 protein_coding 6/13 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425927.1 protein_coding 6/13 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425928.1 protein_coding 6/13 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425929.1 protein_coding 6/13 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425930.1 protein_coding 6/13 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425931.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425932.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425933.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425934.1 protein_coding 6/14 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425935.1 protein_coding 6/14 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425936.1 protein_coding 6/14 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425937.1 protein_coding 6/15 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425938.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425939.1 protein_coding 6/15 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425940.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425941.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425942.1 protein_coding 6/17 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425943.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425944.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425945.1 protein_coding 6/15 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425946.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425947.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425948.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425949.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425950.1 protein_coding 6/14 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425951.1 protein_coding 6/14 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425952.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425953.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425954.1 protein_coding 6/16 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425955.1 protein_coding 6/16 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425956.1 protein_coding 6/13 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425957.1 protein_coding 6/13 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425958.1 protein_coding 6/17 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425959.1 protein_coding 6/13 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425960.1 protein_coding 6/14 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425961.1 protein_coding 6/15 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425962.1 protein_coding 6/14 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425963.1 protein_coding 6/14 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425964.1 protein_coding 6/12 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425965.1 protein_coding 6/11 - - - 600 504 168 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425966.1 protein_coding 6/10 - - - 671 549 183 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:13611653-13611653 G synonymous_variant LOW PRPF18 8559 Transcript XM_047425967.1 protein_coding 6/10 - - - 598 504 168 K aaA/aaG rs1135102,COSV60726273 - 1 - EntrezGene HGNC:17351 - - - - - RefSeq - A A - - - 0.3664 - 0,1 0,1 - - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000357717.6 nonsense_mediated_decay 7/12 - - - 635 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000378241.6 nonsense_mediated_decay 11/17 - - - 1362 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 5 - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000378246.6 nonsense_mediated_decay 8/13 - - - 757 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000378249.5 nonsense_mediated_decay 7/12 - - - 658 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000378254.5 nonsense_mediated_decay 10/15 - - - 897 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000378255.5 nonsense_mediated_decay 11/16 - - - 1219 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000378258.5 nonsense_mediated_decay 10/15 - - - 875 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C ENSG00000152457 Transcript ENST00000378278.7 protein_coding 9/14 - - - 814 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 NM_001033855.3 - 1 P2 - Ensembl - T T - tolerated(0.49) benign(0.005) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C ENSG00000152457 Transcript ENST00000378289.8 protein_coding 9/14 - - - 1150 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 1 A2 - Ensembl - T T - tolerated(0.39) benign(0.039) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000396817.6 nonsense_mediated_decay 11/16 - - - 1173 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C non_coding_transcript_exon_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000418843.5 protein_coding_CDS_not_defined 10/11 - - - 839 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 5 - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000456122.2 nonsense_mediated_decay 10/15 - - - 1501 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 5 - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000489161.2 nonsense_mediated_decay 7/11 - - - 969 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 5 - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant,NMD_transcript_variant MODERATE DCLRE1C ENSG00000152457 Transcript ENST00000492201.6 nonsense_mediated_decay 9/15 - - - 758 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - 3 - - Ensembl - T T - tolerated(0.52) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C ENSG00000152457 Transcript ENST00000697047.1 protein_coding 9/15 - - - 782 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - A2 - Ensembl - T T - tolerated(0.6) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C ENSG00000152457 Transcript ENST00000697070.1 protein_coding 9/15 - - - 794 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - A2 - Ensembl - T T - tolerated(0.58) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697071.1 nonsense_mediated_decay 10/16 - - - 861 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant,NMD_transcript_variant MODERATE DCLRE1C ENSG00000152457 Transcript ENST00000697072.1 nonsense_mediated_decay 9/14 - - - 782 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - tolerated(0.54) benign(0.001) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697073.1 nonsense_mediated_decay 7/13 - - - 698 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697074.1 nonsense_mediated_decay 7/13 - - - 686 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C ENSG00000152457 Transcript ENST00000697075.1 protein_coding 9/14 - - - 806 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - P2 - Ensembl - T T - tolerated(0.49) benign(0.005) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant,NMD_transcript_variant MODERATE DCLRE1C ENSG00000152457 Transcript ENST00000697076.1 nonsense_mediated_decay 9/13 - - - 801 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - tolerated(0.54) benign(0.001) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697077.1 nonsense_mediated_decay 9/14 - - - 853 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697078.1 nonsense_mediated_decay 9/14 - - - 883 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C non_coding_transcript_exon_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697079.1 protein_coding_CDS_not_defined 5/10 - - - 432 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697080.1 nonsense_mediated_decay 9/14 - - - 845 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697081.1 nonsense_mediated_decay 8/14 - - - 750 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C intron_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697082.1 nonsense_mediated_decay - 9/12 - - - - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697083.1 nonsense_mediated_decay 9/13 - - - 783 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C ENSG00000152457 Transcript ENST00000697084.1 protein_coding 9/15 - - - 758 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - tolerated(0.51) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697085.1 nonsense_mediated_decay 10/15 - - - 903 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C non_coding_transcript_exon_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697086.1 retained_intron 10/16 - - - 3165 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697087.1 nonsense_mediated_decay 10/16 - - - 888 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697088.1 nonsense_mediated_decay 8/13 - - - 747 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697089.1 nonsense_mediated_decay 10/15 - - - 849 - - - - rs12768894,COSV63183127 - -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C downstream_gene_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697090.1 retained_intron - - - - - - - - - rs12768894,COSV63183127 1114 -1 - HGNC HGNC:17642 - - - - - Ensembl - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript NM_001033855.3 protein_coding 9/14 - - - 814 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 ENST00000378278.7 - - - - RefSeq - T T - tolerated(0.49) benign(0.005) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript NM_001033857.3 protein_coding 10/15 - - - 899 368 123 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.18) benign(0.005) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript NM_001033858.3 protein_coding 11/16 - - - 1221 368 123 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.18) benign(0.005) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript NM_001289076.2 protein_coding 7/12 - - - 673 383 128 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.27) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript NM_001289077.2 protein_coding 10/15 - - - 945 368 123 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.18) benign(0.005) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript NM_001289078.2 protein_coding 7/12 - - - 706 383 128 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.27) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript NM_001289079.2 protein_coding 11/16 - - - 1267 368 123 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.18) benign(0.005) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript NM_001350965.2 protein_coding 9/15 - - - 814 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.6) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript NM_001350966.2 protein_coding 7/13 - - - 706 383 128 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.58) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript NM_001350967.2 protein_coding 10/16 - - - 899 368 123 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.58) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript NM_022487.4 protein_coding 8/13 - - - 758 383 128 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.27) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C non_coding_transcript_exon_variant MODIFIER DCLRE1C 64421 Transcript NR_110297.2 misc_RNA 11/17 - - - 1026 - - - - rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C non_coding_transcript_exon_variant MODIFIER DCLRE1C 64421 Transcript NR_146960.1 misc_RNA 9/14 - - - 1150 - - - - rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T OK - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C non_coding_transcript_exon_variant MODIFIER DCLRE1C 64421 Transcript NR_146961.2 misc_RNA 9/15 - - - 843 - - - - rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C non_coding_transcript_exon_variant MODIFIER DCLRE1C 64421 Transcript NR_146962.1 misc_RNA 9/15 - - - 1150 - - - - rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T OK - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript XM_011519620.4 protein_coding 9/14 - - - 1150 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript XM_011519621.3 protein_coding 9/11 - - - 1150 728 243 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.54) benign(0.001) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript XM_047425648.1 protein_coding 8/13 - - - 614 383 128 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.27) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript XM_047425649.1 protein_coding 8/13 - - - 727 383 128 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.27) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript XM_047425650.1 protein_coding 8/13 - - - 685 383 128 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.27) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript XM_047425651.1 protein_coding 9/14 - - - 741 383 128 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.27) benign(0) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C missense_variant MODERATE DCLRE1C 64421 Transcript XM_047425652.1 protein_coding 9/14 - - - 779 368 123 H/R cAt/cGt rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - tolerated(0.18) benign(0.005) 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14932906-14932906 C non_coding_transcript_exon_variant MODIFIER DCLRE1C 64421 Transcript XR_930515.3 misc_RNA 9/13 - - - 1150 - - - - rs12768894,COSV63183127 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - T T - - - 0.1230 benign 0,1 1,1 25741868,24033266,28082683,35003222,35315770 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000357717.6 nonsense_mediated_decay 6/12 - - - 550 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000378241.6 nonsense_mediated_decay 10/17 - - - 1277 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 5 - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000378246.6 nonsense_mediated_decay 7/13 - - - 672 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000378249.5 nonsense_mediated_decay 6/12 - - - 573 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000378254.5 nonsense_mediated_decay 9/15 - - - 812 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000378255.5 nonsense_mediated_decay 10/16 - - - 1134 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000378258.5 nonsense_mediated_decay 9/15 - - - 790 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C ENSG00000152457 Transcript ENST00000378278.7 protein_coding 8/14 - - - 729 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 NM_001033855.3 - 1 P2 - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C ENSG00000152457 Transcript ENST00000378289.8 protein_coding 8/14 - - - 1065 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 1 A2 - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000396817.6 nonsense_mediated_decay 10/16 - - - 1088 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 1 - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A non_coding_transcript_exon_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000418843.5 protein_coding_CDS_not_defined 9/11 - - - 754 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 5 - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000456122.2 nonsense_mediated_decay 9/15 - - - 1416 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 5 - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000489161.2 nonsense_mediated_decay 6/11 - - - 884 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 5 - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant,NMD_transcript_variant LOW DCLRE1C ENSG00000152457 Transcript ENST00000492201.6 nonsense_mediated_decay 8/15 - - - 673 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - 3 - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C ENSG00000152457 Transcript ENST00000697047.1 protein_coding 8/15 - - - 697 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - A2 - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C ENSG00000152457 Transcript ENST00000697070.1 protein_coding 8/15 - - - 709 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - A2 - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697071.1 nonsense_mediated_decay 9/16 - - - 776 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant,NMD_transcript_variant LOW DCLRE1C ENSG00000152457 Transcript ENST00000697072.1 nonsense_mediated_decay 8/14 - - - 697 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697073.1 nonsense_mediated_decay 6/13 - - - 613 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697074.1 nonsense_mediated_decay 6/13 - - - 601 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C ENSG00000152457 Transcript ENST00000697075.1 protein_coding 8/14 - - - 721 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - P2 - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant,NMD_transcript_variant LOW DCLRE1C ENSG00000152457 Transcript ENST00000697076.1 nonsense_mediated_decay 8/13 - - - 716 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697077.1 nonsense_mediated_decay 8/14 - - - 768 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697078.1 nonsense_mediated_decay 8/14 - - - 798 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A non_coding_transcript_exon_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697079.1 protein_coding_CDS_not_defined 4/10 - - - 347 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697080.1 nonsense_mediated_decay 8/14 - - - 760 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697081.1 nonsense_mediated_decay 7/14 - - - 665 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697082.1 nonsense_mediated_decay 9/13 - - - 1009 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697083.1 nonsense_mediated_decay 8/13 - - - 698 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C ENSG00000152457 Transcript ENST00000697084.1 protein_coding 8/15 - - - 673 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697085.1 nonsense_mediated_decay 9/15 - - - 818 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A non_coding_transcript_exon_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697086.1 retained_intron 9/16 - - - 3080 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697087.1 nonsense_mediated_decay 9/16 - - - 803 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697088.1 nonsense_mediated_decay 7/13 - - - 662 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697089.1 nonsense_mediated_decay 9/15 - - - 764 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A non_coding_transcript_exon_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697090.1 retained_intron 9/9 - - - 651 - - - - rs7076862,COSV63182212 - -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A downstream_gene_variant MODIFIER DCLRE1C ENSG00000152457 Transcript ENST00000697091.1 retained_intron - - - - - - - - - rs7076862,COSV63182212 4352 -1 - HGNC HGNC:17642 - - - - - Ensembl - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript NM_001033855.3 protein_coding 8/14 - - - 729 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 ENST00000378278.7 - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript NM_001033857.3 protein_coding 9/15 - - - 814 283 95 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript NM_001033858.3 protein_coding 10/16 - - - 1136 283 95 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript NM_001289076.2 protein_coding 6/12 - - - 588 298 100 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript NM_001289077.2 protein_coding 9/15 - - - 860 283 95 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript NM_001289078.2 protein_coding 6/12 - - - 621 298 100 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript NM_001289079.2 protein_coding 10/16 - - - 1182 283 95 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript NM_001350965.2 protein_coding 8/15 - - - 729 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript NM_001350966.2 protein_coding 6/13 - - - 621 298 100 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript NM_001350967.2 protein_coding 9/16 - - - 814 283 95 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript NM_022487.4 protein_coding 7/13 - - - 673 298 100 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A non_coding_transcript_exon_variant MODIFIER DCLRE1C 64421 Transcript NR_110297.2 misc_RNA 10/17 - - - 941 - - - - rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A non_coding_transcript_exon_variant MODIFIER DCLRE1C 64421 Transcript NR_146960.1 misc_RNA 8/14 - - - 1065 - - - - rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G OK - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A non_coding_transcript_exon_variant MODIFIER DCLRE1C 64421 Transcript NR_146961.2 misc_RNA 8/15 - - - 758 - - - - rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A non_coding_transcript_exon_variant MODIFIER DCLRE1C 64421 Transcript NR_146962.1 misc_RNA 8/15 - - - 1065 - - - - rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G OK - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript XM_011519620.4 protein_coding 8/14 - - - 1065 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript XM_011519621.3 protein_coding 8/11 - - - 1065 643 215 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript XM_047425648.1 protein_coding 7/13 - - - 529 298 100 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript XM_047425649.1 protein_coding 7/13 - - - 642 298 100 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript XM_047425650.1 protein_coding 7/13 - - - 600 298 100 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript XM_047425651.1 protein_coding 8/14 - - - 656 298 100 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A synonymous_variant LOW DCLRE1C 64421 Transcript XM_047425652.1 protein_coding 8/14 - - - 694 283 95 L Ctg/Ttg rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14934415-14934415 A non_coding_transcript_exon_variant MODIFIER DCLRE1C 64421 Transcript XR_930515.3 misc_RNA 8/13 - - - 1065 - - - - rs7076862,COSV63182212 - -1 - EntrezGene HGNC:17642 - - - - - RefSeq - G G - - - 0.5000 benign 0,1 1,1 25741868,24033266,31123309,35003222 - - - - - . 10:14966494-14966494 C missense_variant MODERATE MEIG1 ENSG00000197889 Transcript ENST00000378240.1 protein_coding 1/2 - - - 56 26 9 K/T aAa/aCa rs4750568,COSV65542388 - 1 - HGNC HGNC:23429 - - 2 P1 - Ensembl - A A - tolerated(0.1) possibly_damaging(0.864) 0.6112 - 0,1 0,1 16385451,30826882 - - - - - . 10:14966494-14966494 C missense_variant MODERATE MEIG1 ENSG00000197889 Transcript ENST00000407572.6 protein_coding 2/3 - - - 225 26 9 K/T aAa/aCa rs4750568,COSV65542388 - 1 - HGNC HGNC:23429 NM_001080836.3 - 2 P1 - Ensembl - A A - tolerated(0.1) possibly_damaging(0.864) 0.6112 - 0,1 0,1 16385451,30826882 - - - - - . 10:14966494-14966494 C intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000477770.5 protein_coding_CDS_not_defined - 1/1 - - - - - - - rs4750568,COSV65542388 - 1 - HGNC HGNC:23429 - - 2 - - Ensembl - A A - - - 0.6112 - 0,1 0,1 16385451,30826882 - - - - - . 10:14966494-14966494 C intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000496225.2 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs4750568,COSV65542388 - 1 - HGNC HGNC:23429 - - 3 - - Ensembl - A A - - - 0.6112 - 0,1 0,1 16385451,30826882 - - - - - . 10:14966494-14966494 C missense_variant MODERATE MEIG1 644890 Transcript NM_001080836.3 protein_coding 2/3 - - - 225 26 9 K/T aAa/aCa rs4750568,COSV65542388 - 1 - EntrezGene HGNC:23429 ENST00000407572.6 - - - - RefSeq - A A - tolerated(0.1) possibly_damaging(0.864) 0.6112 - 0,1 0,1 16385451,30826882 - - - - - . 10:14966494-14966494 C intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 1/2 - - - - - - - rs4750568,COSV65542388 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - A A - - - 0.6112 - 0,1 0,1 16385451,30826882 - - - - - . 10:14966494-14966494 C missense_variant MODERATE MEIG1 644890 Transcript XM_024448136.1 protein_coding 2/3 - - - 132 119 40 K/T aAa/aCa rs4750568,COSV65542388 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - A A - - - 0.6112 - 0,1 0,1 16385451,30826882 - - - - - . 10:14966494-14966494 C missense_variant MODERATE MEIG1 644890 Transcript XM_047425662.1 protein_coding 2/3 - - - 143 26 9 K/T aAa/aCa rs4750568,COSV65542388 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - A A - tolerated(0.1) possibly_damaging(0.864) 0.6112 - 0,1 0,1 16385451,30826882 - - - - - . 10:14986941-14986941 A downstream_gene_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene - - - - - - - - - rs12358080 1 -1 - HGNC HGNC:15126 - - - - - Ensembl - C C - - - 0.2165 - - - - - - - - - . 10:14986941-14986941 A non_coding_transcript_exon_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined 2/3 - - - 212 - - - - rs12358080 - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - C C - - - 0.2165 - - - - - - - - - . 10:14986941-14986941 A non_coding_transcript_exon_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA 2/3 - - - 316 - - - - rs12358080 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - C C - - - 0.2165 - - - - - - - - - . 10:14986954-14986954 T non_coding_transcript_exon_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene 1/1 - - - 562 - - - - rs920582119 - -1 - HGNC HGNC:15126 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:14986954-14986954 T non_coding_transcript_exon_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined 2/3 - - - 225 - - - - rs920582119 - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:14986954-14986954 T non_coding_transcript_exon_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA 2/3 - - - 329 - - - - rs920582119 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:14987026-14987026 C non_coding_transcript_exon_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene 1/1 - - - 490 - - - - - - -1 - HGNC HGNC:15126 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:14987026-14987026 C intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - - - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:14987026-14987026 C intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - - - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:14987049-14987049 T non_coding_transcript_exon_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene 1/1 - - - 467 - - - - rs1340448141 - -1 - HGNC HGNC:15126 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:14987049-14987049 T intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs1340448141 - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:14987049-14987049 T intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - rs1340448141 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:14987068-14987068 A non_coding_transcript_exon_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene 1/1 - - - 448 - - - - rs189796669 - -1 - HGNC HGNC:15126 - - - - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:14987068-14987068 A intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs189796669 - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:14987068-14987068 A intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - rs189796669 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - C C - - - 0.0002 - - - - - - - - - . 10:14987188-14987188 A non_coding_transcript_exon_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene 1/1 - - - 328 - - - - rs572550840 - -1 - HGNC HGNC:15126 - - - - - Ensembl - G G - - - 0.0002 - - - - - - - - - . 10:14987188-14987188 A intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs572550840 - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - G G - - - 0.0002 - - - - - - - - - . 10:14987188-14987188 A intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - rs572550840 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:14987192-14987192 T non_coding_transcript_exon_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene 1/1 - - - 324 - - - - - - -1 - HGNC HGNC:15126 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:14987192-14987192 T intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - - - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:14987192-14987192 T intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - - - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:14987265-14987265 G non_coding_transcript_exon_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene 1/1 - - - 251 - - - - rs7918583 - -1 - HGNC HGNC:15126 - - - - - Ensembl - A A - - - 0.7175 - - - - - - - - - . 10:14987265-14987265 G intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs7918583 - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - A A - - - 0.7175 - - - - - - - - - . 10:14987265-14987265 G intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - rs7918583 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - A A - - - 0.7175 - - - - - - - - - . 10:14987316-14987316 C non_coding_transcript_exon_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene 1/1 - - - 200 - - - - rs11259420 - -1 - HGNC HGNC:15126 - - - - - Ensembl - A A - - - 0.3059 - - - - - - - - - . 10:14987316-14987316 C intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs11259420 - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - A A - - - 0.3059 - - - - - - - - - . 10:14987316-14987316 C intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - rs11259420 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - A A - - - 0.3059 - - - - - - - - - . 10:14987370-14987370 C non_coding_transcript_exon_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene 1/1 - - - 146 - - - - rs367743950 - -1 - HGNC HGNC:15126 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:14987370-14987370 C intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs367743950 - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:14987370-14987370 C intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - rs367743950 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:14987479-14987479 C non_coding_transcript_exon_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene 1/1 - - - 37 - - - - - - -1 - HGNC HGNC:15126 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:14987479-14987479 C intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - - - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:14987479-14987479 C intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - - - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:14987490-14987490 A non_coding_transcript_exon_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene 1/1 - - - 26 - - - - rs7901784 - -1 - HGNC HGNC:15126 - - - - - Ensembl - G G - - - 0.4537 - - - - - - - - - . 10:14987490-14987490 A intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs7901784 - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - G G - - - 0.4537 - - - - - - - - - . 10:14987490-14987490 A intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - rs7901784 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - G G - - - 0.4537 - - - - - - - - - . 10:14987541-14987541 G upstream_gene_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene - - - - - - - - - - 26 -1 - HGNC HGNC:15126 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:14987541-14987541 G intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - - - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:14987541-14987541 G intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - - - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:14987550-14987550 G upstream_gene_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene - - - - - - - - - rs1230417009 35 -1 - HGNC HGNC:15126 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:14987550-14987550 G intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs1230417009 - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:14987550-14987550 G intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - rs1230417009 - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:14987562-14987562 G upstream_gene_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene - - - - - - - - - - 47 -1 - HGNC HGNC:15126 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:14987562-14987562 G intron_variant,non_coding_transcript_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - - - 1 - HGNC HGNC:23429 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:14987562-14987562 G intron_variant,non_coding_transcript_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - 2/2 - - - - - - - - - 1 - EntrezGene HGNC:23429 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:14989400-14989400 G upstream_gene_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene - - - - - - - - - - 1885 -1 - HGNC HGNC:15126 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:14989400-14989400 G downstream_gene_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - - - - - - - - - - 1350 1 - HGNC HGNC:23429 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:14989400-14989400 G downstream_gene_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - - - - - - - - - - 1350 1 - EntrezGene HGNC:23429 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:14989403-14989403 A upstream_gene_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene - - - - - - - - - rs11818171 1888 -1 - HGNC HGNC:15126 - - - - - Ensembl - C C - - - 0.4032 - - - - - - - - - . 10:14989403-14989403 A downstream_gene_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - - - - - - - - - rs11818171 1353 1 - HGNC HGNC:23429 - - 5 - - Ensembl - C C - - - 0.4032 - - - - - - - - - . 10:14989403-14989403 A downstream_gene_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - - - - - - - - - rs11818171 1353 1 - EntrezGene HGNC:23429 - - - - - RefSeq - C C - - - 0.4032 - - - - - - - - - . 10:14989403-14989403 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000941671 enhancer - - - - - - - - - rs11818171 - - - - - - - - - - - - - - - - - 0.4032 - - - - - - - - - . 10:14989416-14989416 A upstream_gene_variant MODIFIER OR7E110P ENSG00000235623 Transcript ENST00000431186.2 unprocessed_pseudogene - - - - - - - - - rs201444254 1901 -1 - HGNC HGNC:15126 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:14989416-14989416 A downstream_gene_variant MODIFIER MEIG1 ENSG00000197889 Transcript ENST00000467536.1 protein_coding_CDS_not_defined - - - - - - - - - rs201444254 1366 1 - HGNC HGNC:23429 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:14989416-14989416 A downstream_gene_variant MODIFIER MEIG1 644890 Transcript NR_147060.2 misc_RNA - - - - - - - - - rs201444254 1366 1 - EntrezGene HGNC:23429 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:14989416-14989416 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000941671 enhancer - - - - - - - - - rs201444254 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:14999194-14999194 A non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 862 - - - - rs749485850 - -1 - HGNC HGNC:8398 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:14999203-14999203 G non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 853 - - - - rs1344350513 - -1 - HGNC HGNC:8398 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:14999206-14999206 G non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 850 - - - - rs1424126537 - -1 - HGNC HGNC:8398 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:14999550-14999550 A non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 506 - - - - - - -1 - HGNC HGNC:8398 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:14999551-14999551 C non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 505 - - - - - - -1 - HGNC HGNC:8398 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:14999621-14999621 G non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 435 - - - - - - -1 - HGNC HGNC:8398 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:14999636-14999636 C non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 420 - - - - - - -1 - HGNC HGNC:8398 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:14999687-14999687 G non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 369 - - - - - - -1 - HGNC HGNC:8398 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:14999696-14999696 C non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 360 - - - - - - -1 - HGNC HGNC:8398 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:14999772-14999772 A non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 284 - - - - rs562119200 - -1 - HGNC HGNC:8398 - - - - - Ensembl - G G - - - 0.0002 - - - - - - - - - . 10:14999852-14999852 A non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 204 - - - - - - -1 - HGNC HGNC:8398 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:14999884-14999884 G non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 172 - - - - rs1040772656 - -1 - HGNC HGNC:8398 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:14999909-14999909 T non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 147 - - - - rs6602796 - -1 - HGNC HGNC:8398 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:14999962-14999962 A non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 94 - - - - - - -1 - HGNC HGNC:8398 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:14999987-14999987 G non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 69 - - - - rs1182165865 - -1 - HGNC HGNC:8398 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:15000004-15000004 G non_coding_transcript_exon_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene 1/1 - - - 52 - - - - - - -1 - HGNC HGNC:8398 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:15000065-15000065 C upstream_gene_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene - - - - - - - - - - 10 -1 - HGNC HGNC:8398 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:15000111-15000111 A upstream_gene_variant MODIFIER OR7E26P ENSG00000228547 Transcript ENST00000502808.2 unprocessed_pseudogene - - - - - - - - - - 56 -1 - HGNC HGNC:8398 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:15007198-15007198 A downstream_gene_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene - - - - - - - - - - 663 -1 - HGNC HGNC:15127 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:15007240-15007240 T downstream_gene_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene - - - - - - - - - rs1171774407 621 -1 - HGNC HGNC:15127 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:15007285-15007285 T downstream_gene_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene - - - - - - - - - rs544793361 576 -1 - HGNC HGNC:15127 - - - - - Ensembl - C C - - - 0.0006 - - - - - - - - - . 10:15007307-15007307 G downstream_gene_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene - - - - - - - - - - 554 -1 - HGNC HGNC:15127 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:15007363-15007363 G downstream_gene_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene - - - - - - - - - rs11259426 498 -1 - HGNC HGNC:15127 - - - - - Ensembl - C C - - - 0.2734 - - - - - - - - - . 10:15007821-15007821 G downstream_gene_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene - - - - - - - - - rs1225019103 40 -1 - HGNC HGNC:15127 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:15007928-15007928 C non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 957 - - - - - - -1 - HGNC HGNC:15127 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:15007930-15007930 C non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 955 - - - - rs1228417941 - -1 - HGNC HGNC:15127 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:15007966-15007966 A non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 919 - - - - - - -1 - HGNC HGNC:15127 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:15008033-15008033 A non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 852 - - - - rs1369096423 - -1 - HGNC HGNC:15127 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:15008077-15008077 C non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 808 - - - - rs1260713795 - -1 - HGNC HGNC:15127 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:15008111-15008111 A non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 774 - - - - - - -1 - HGNC HGNC:15127 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:15008142-15008142 C non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 743 - - - - - - -1 - HGNC HGNC:15127 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:15008189-15008189 C non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 696 - - - - rs1162557674 - -1 - HGNC HGNC:15127 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:15008223-15008223 G non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 662 - - - - rs1306866338 - -1 - HGNC HGNC:15127 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:15008249-15008249 C non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 636 - - - - rs1266886901 - -1 - HGNC HGNC:15127 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:15008270-15008270 T non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 615 - - - - - - -1 - HGNC HGNC:15127 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:15008320-15008320 A non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 565 - - - - - - -1 - HGNC HGNC:15127 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:15008335-15008335 A non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 550 - - - - - - -1 - HGNC HGNC:15127 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:15008486-15008486 G non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 399 - - - - - - -1 - HGNC HGNC:15127 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:15008665-15008665 T non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 220 - - - - rs180785687 - -1 - HGNC HGNC:15127 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:15008689-15008689 A non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 196 - - - - rs34929991 - -1 - HGNC HGNC:15127 - - - - - Ensembl - G G - - - 0.8127 - - - - - - - - - . 10:15008751-15008751 G non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 134 - - - - - - -1 - HGNC HGNC:15127 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:15008801-15008801 C non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 84 - - - - rs35053386 - -1 - HGNC HGNC:15127 - - - - - Ensembl - T T - - - 0.3295 - - - - - - - - - . 10:15008866-15008866 T non_coding_transcript_exon_variant MODIFIER OR7E115P ENSG00000182531 Transcript ENST00000382617.4 unprocessed_pseudogene 1/1 - - - 19 - - - - rs1472553023 - -1 - HGNC HGNC:15127 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:15130094-15130094 G intron_variant MODIFIER NMT2 ENSG00000152465 Transcript ENST00000378150.1 protein_coding - 8/12 - - - - - - - rs117040477 - -1 - HGNC HGNC:7858 - - 2 - - Ensembl - A A - - - 0.0250 - - - - - - - - - . 10:15130094-15130094 G intron_variant MODIFIER NMT2 ENSG00000152465 Transcript ENST00000378165.9 protein_coding - 7/11 - - - - - - - rs117040477 - -1 - HGNC HGNC:7858 NM_004808.3 - 1 P1 - Ensembl - A A - - - 0.0250 - - - - - - - - - . 10:15130094-15130094 G intron_variant,non_coding_transcript_variant MODIFIER RPP38 ENSG00000152464 Transcript ENST00000451677.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs117040477 - 1 - HGNC HGNC:30329 - - 3 - - Ensembl - A A - - - 0.0250 - - - - - - - - - . 10:15130094-15130094 G downstream_gene_variant MODIFIER NMT2 ENSG00000152465 Transcript ENST00000478580.1 protein_coding_CDS_not_defined - - - - - - - - - rs117040477 2723 -1 - HGNC HGNC:7858 - - 3 - - Ensembl - A A - - - 0.0250 - - - - - - - - - . 10:15130094-15130094 G intron_variant MODIFIER NMT2 9397 Transcript NM_001308295.2 protein_coding - 8/12 - - - - - - - rs117040477 - -1 - EntrezGene HGNC:7858 - - - - - RefSeq - A A - - - 0.0250 - - - - - - - - - . 10:15130094-15130094 G intron_variant MODIFIER NMT2 9397 Transcript NM_004808.3 protein_coding - 7/11 - - - - - - - rs117040477 - -1 - EntrezGene HGNC:7858 ENST00000378165.9 - - - - RefSeq - A A - - - 0.0250 - - - - - - - - - . 10:15130094-15130094 G intron_variant MODIFIER NMT2 9397 Transcript XM_005252642.6 protein_coding - 7/11 - - - - - - - rs117040477 - -1 - EntrezGene HGNC:7858 - - - - - RefSeq - A A - - - 0.0250 - - - - - - - - - . 10:15130094-15130094 G intron_variant MODIFIER NMT2 9397 Transcript XM_006717539.5 protein_coding - 6/10 - - - - - - - rs117040477 - -1 - EntrezGene HGNC:7858 - - - - - RefSeq - A A - - - 0.0250 - - - - - - - - - . 10:15130094-15130094 G intron_variant MODIFIER NMT2 9397 Transcript XM_017016949.3 protein_coding - 8/12 - - - - - - - rs117040477 - -1 - EntrezGene HGNC:7858 - - - - - RefSeq - A A - - - 0.0250 - - - - - - - - - . 10:15130094-15130094 G intron_variant MODIFIER NMT2 9397 Transcript XM_017016951.3 protein_coding - 7/11 - - - - - - - rs117040477 - -1 - EntrezGene HGNC:7858 - - - - - RefSeq - A A - - - 0.0250 - - - - - - - - - . 10:15130094-15130094 G intron_variant MODIFIER NMT2 9397 Transcript XM_024448262.2 protein_coding - 9/13 - - - - - - - rs117040477 - -1 - EntrezGene HGNC:7858 - - - - - RefSeq - A A - - - 0.0250 - - - - - - - - - . 10:15130094-15130094 G intron_variant MODIFIER NMT2 9397 Transcript XM_047426019.1 protein_coding - 6/10 - - - - - - - rs117040477 - -1 - EntrezGene HGNC:7858 - - - - - RefSeq - A A - - - 0.0250 - - - - - - - - - . 10:15531051-15531051 G missense_variant,splice_region_variant MODERATE ITGA8 ENSG00000077943 Transcript ENST00000378076.4 protein_coding 28/30 - - - 3132 2981 994 V/A gTa/gCa rs1041135 - -1 - HGNC HGNC:6144 NM_003638.3 - 1 P1 - Ensembl - A A - tolerated(1) benign(0) 0.9139 benign - 1 29197384 - - - - - . 10:15531051-15531051 G missense_variant,splice_region_variant MODERATE ITGA8 8516 Transcript NM_001291494.2 protein_coding 27/29 - - - 3087 2936 979 V/A gTa/gCa rs1041135 - -1 - EntrezGene HGNC:6144 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9139 benign - 1 29197384 - - - - - . 10:15531051-15531051 G missense_variant,splice_region_variant MODERATE ITGA8 8516 Transcript NM_003638.3 protein_coding 28/30 - - - 3132 2981 994 V/A gTa/gCa rs1041135 - -1 - EntrezGene HGNC:6144 ENST00000378076.4 - - - - RefSeq - A A - tolerated(1) benign(0) 0.9139 benign - 1 29197384 - - - - - . 10:15687924-15687924 T intron_variant MODIFIER ITGA8 ENSG00000077943 Transcript ENST00000378076.4 protein_coding - 3/29 - - - - - - - rs1954181 - -1 - HGNC HGNC:6144 NM_003638.3 - 1 P1 - Ensembl - C C - - - 0.7590 benign - 1 - - - - - - . 10:15687924-15687924 T intron_variant MODIFIER ITGA8 8516 Transcript NM_001291494.2 protein_coding - 3/28 - - - - - - - rs1954181 - -1 - EntrezGene HGNC:6144 - - - - - RefSeq - C C - - - 0.7590 benign - 1 - - - - - - . 10:15687924-15687924 T intron_variant MODIFIER ITGA8 8516 Transcript NM_003638.3 protein_coding - 3/29 - - - - - - - rs1954181 - -1 - EntrezGene HGNC:6144 ENST00000378076.4 - - - - RefSeq - C C - - - 0.7590 benign - 1 - - - - - - . 10:15687924-15687924 T intron_variant MODIFIER ITGA8 8516 Transcript XM_011519752.3 protein_coding - 3/23 - - - - - - - rs1954181 - -1 - EntrezGene HGNC:6144 - - - - - RefSeq - C C - - - 0.7590 benign - 1 - - - - - - . 10:16505059-16505059 G intron_variant MODIFIER PTER ENSG00000165983 Transcript ENST00000298942.4 protein_coding - 2/2 - - - - - - - rs7904014,COSV54345689 - 1 - HGNC HGNC:9590 - - 5 - - Ensembl - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G synonymous_variant LOW PTER ENSG00000165983 Transcript ENST00000378000.5 protein_coding 5/6 - - - 984 738 246 Q caA/caG rs7904014,COSV54345689 - 1 - HGNC HGNC:9590 - - 1 P1 - Ensembl - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G synonymous_variant LOW PTER ENSG00000165983 Transcript ENST00000423462.6 protein_coding 3/4 - - - 411 291 97 Q caA/caG rs7904014,COSV54345689 - 1 - HGNC HGNC:9590 - - 3 - - Ensembl - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G synonymous_variant LOW PTER ENSG00000165983 Transcript ENST00000535784.7 protein_coding 4/5 - - - 824 738 246 Q caA/caG rs7904014,COSV54345689 - 1 - HGNC HGNC:9590 NM_001261836.2 - 1 P1 - Ensembl - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G synonymous_variant LOW PTER 9317 Transcript NM_001001484.3 protein_coding 5/6 - - - 958 738 246 Q caA/caG rs7904014,COSV54345689 - 1 - EntrezGene HGNC:9590 - - - - - RefSeq - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G synonymous_variant LOW PTER 9317 Transcript NM_001261836.2 protein_coding 4/5 - - - 824 738 246 Q caA/caG rs7904014,COSV54345689 - 1 - EntrezGene HGNC:9590 ENST00000535784.7 - - - - RefSeq - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G intron_variant MODIFIER PTER 9317 Transcript NM_001261837.2 protein_coding - 4/4 - - - - - - - rs7904014,COSV54345689 - 1 - EntrezGene HGNC:9590 - - - - - RefSeq - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G synonymous_variant LOW PTER 9317 Transcript NM_001261838.2 protein_coding 3/4 - - - 344 291 97 Q caA/caG rs7904014,COSV54345689 - 1 - EntrezGene HGNC:9590 - - - - - RefSeq - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G synonymous_variant LOW PTER 9317 Transcript NM_030664.5 protein_coding 5/6 - - - 903 738 246 Q caA/caG rs7904014,COSV54345689 - 1 - EntrezGene HGNC:9590 - - - - - RefSeq - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G synonymous_variant LOW PTER 9317 Transcript XM_017016927.3 protein_coding 4/5 - - - 1598 801 267 Q caA/caG rs7904014,COSV54345689 - 1 - EntrezGene HGNC:9590 - - - - - RefSeq - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G intron_variant MODIFIER PTER 9317 Transcript XM_017016929.3 protein_coding - 3/3 - - - - - - - rs7904014,COSV54345689 - 1 - EntrezGene HGNC:9590 - - - - - RefSeq - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G synonymous_variant LOW PTER 9317 Transcript XM_047426006.1 protein_coding 5/6 - - - 1213 864 288 Q caA/caG rs7904014,COSV54345689 - 1 - EntrezGene HGNC:9590 - - - - - RefSeq - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G intron_variant MODIFIER PTER 9317 Transcript XM_047426007.1 protein_coding - 4/4 - - - - - - - rs7904014,COSV54345689 - 1 - EntrezGene HGNC:9590 - - - - - RefSeq - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G non_coding_transcript_exon_variant MODIFIER PTER 9317 Transcript XR_007062017.1 misc_RNA 5/7 - - - 1213 - - - - rs7904014,COSV54345689 - 1 - EntrezGene HGNC:9590 - - - - - RefSeq - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16505059-16505059 G non_coding_transcript_exon_variant MODIFIER PTER 9317 Transcript XR_007062018.1 misc_RNA 4/6 - - - 824 - - - - rs7904014,COSV54345689 - 1 - EntrezGene HGNC:9590 - - - - - RefSeq - A A - - - 0.6563 - 0,1 0,1 - - - - - - . 10:16754920-16754920 A synonymous_variant LOW RSU1 ENSG00000148484 Transcript ENST00000345264.10 protein_coding 5/9 - - - 464 351 117 T acG/acT rs1049632,COSV61716461 - -1 - HGNC HGNC:10464 NM_012425.4 - 1 P1 - Ensembl - C C - - - 0.4173 - 0,1 0,1 16385451 - - - - - . 10:16754920-16754920 A non_coding_transcript_exon_variant MODIFIER RSU1 ENSG00000148484 Transcript ENST00000377911.1 protein_coding_CDS_not_defined 4/8 - - - 391 - - - - rs1049632,COSV61716461 - -1 - HGNC HGNC:10464 - - 1 - - Ensembl - C C - - - 0.4173 - 0,1 0,1 16385451 - - - - - . 10:16754920-16754920 A synonymous_variant LOW RSU1 ENSG00000148484 Transcript ENST00000377921.7 protein_coding 4/8 - - - 653 351 117 T acG/acT rs1049632,COSV61716461 - -1 - HGNC HGNC:10464 - - 1 P1 - Ensembl - C C - - - 0.4173 - 0,1 0,1 16385451 - - - - - . 10:16754920-16754920 A non_coding_transcript_exon_variant MODIFIER RSU1 ENSG00000148484 Transcript ENST00000464074.6 protein_coding_CDS_not_defined 3/8 - - - 290 - - - - rs1049632,COSV61716461 - -1 - HGNC HGNC:10464 - - 5 - - Ensembl - C C - - - 0.4173 - 0,1 0,1 16385451 - - - - - . 10:16754920-16754920 A synonymous_variant LOW RSU1 ENSG00000148484 Transcript ENST00000602389.1 protein_coding 4/8 - - - 382 192 64 T acG/acT rs1049632,COSV61716461 - -1 - HGNC HGNC:10464 - - 1 - - Ensembl - C C - - - 0.4173 - 0,1 0,1 16385451 - - - - - . 10:16754920-16754920 A synonymous_variant LOW RSU1 6251 Transcript NM_012425.4 protein_coding 5/9 - - - 464 351 117 T acG/acT rs1049632,COSV61716461 - -1 - EntrezGene HGNC:10464 ENST00000345264.10 - - - - RefSeq - C C - - - 0.4173 - 0,1 0,1 16385451 - - - - - . 10:16754920-16754920 A synonymous_variant LOW RSU1 6251 Transcript NM_152724.3 protein_coding 4/8 - - - 352 192 64 T acG/acT rs1049632,COSV61716461 - -1 - EntrezGene HGNC:10464 - - - - - RefSeq - C C - - - 0.4173 - 0,1 0,1 16385451 - - - - - . 10:16754920-16754920 A synonymous_variant LOW RSU1 6251 Transcript XM_047425617.1 protein_coding 4/7 - - - 354 351 117 T acG/acT rs1049632,COSV61716461 - -1 - EntrezGene HGNC:10464 - - - - - RefSeq - C C - - - 0.4173 - 0,1 0,1 16385451 - - - - - . 10:16755034-16755034 G intron_variant MODIFIER RSU1 ENSG00000148484 Transcript ENST00000345264.10 protein_coding - 4/8 - - - - - - - rs7910261,COSV61716466 - -1 - HGNC HGNC:10464 NM_012425.4 - 1 P1 - Ensembl - A A - - - 0.4698 - 0,1 0,1 19052777 - - - - - . 10:16755034-16755034 G intron_variant,non_coding_transcript_variant MODIFIER RSU1 ENSG00000148484 Transcript ENST00000377911.1 protein_coding_CDS_not_defined - 3/7 - - - - - - - rs7910261,COSV61716466 - -1 - HGNC HGNC:10464 - - 1 - - Ensembl - A A - - - 0.4698 - 0,1 0,1 19052777 - - - - - . 10:16755034-16755034 G intron_variant MODIFIER RSU1 ENSG00000148484 Transcript ENST00000377921.7 protein_coding - 3/7 - - - - - - - rs7910261,COSV61716466 - -1 - HGNC HGNC:10464 - - 1 P1 - Ensembl - A A - - - 0.4698 - 0,1 0,1 19052777 - - - - - . 10:16755034-16755034 G intron_variant,non_coding_transcript_variant MODIFIER RSU1 ENSG00000148484 Transcript ENST00000464074.6 protein_coding_CDS_not_defined - 2/7 - - - - - - - rs7910261,COSV61716466 - -1 - HGNC HGNC:10464 - - 5 - - Ensembl - A A - - - 0.4698 - 0,1 0,1 19052777 - - - - - . 10:16755034-16755034 G intron_variant MODIFIER RSU1 ENSG00000148484 Transcript ENST00000602389.1 protein_coding - 3/7 - - - - - - - rs7910261,COSV61716466 - -1 - HGNC HGNC:10464 - - 1 - - Ensembl - A A - - - 0.4698 - 0,1 0,1 19052777 - - - - - . 10:16755034-16755034 G intron_variant MODIFIER RSU1 6251 Transcript NM_012425.4 protein_coding - 4/8 - - - - - - - rs7910261,COSV61716466 - -1 - EntrezGene HGNC:10464 ENST00000345264.10 - - - - RefSeq - A A - - - 0.4698 - 0,1 0,1 19052777 - - - - - . 10:16755034-16755034 G intron_variant MODIFIER RSU1 6251 Transcript NM_152724.3 protein_coding - 3/7 - - - - - - - rs7910261,COSV61716466 - -1 - EntrezGene HGNC:10464 - - - - - RefSeq - A A - - - 0.4698 - 0,1 0,1 19052777 - - - - - . 10:16755034-16755034 G intron_variant MODIFIER RSU1 6251 Transcript XM_047425617.1 protein_coding - 3/6 - - - - - - - rs7910261,COSV61716466 - -1 - EntrezGene HGNC:10464 - - - - - RefSeq - A A - - - 0.4698 - 0,1 0,1 19052777 - - - - - . 10:16901372-16901372 C missense_variant MODERATE CUBN ENSG00000107611 Transcript ENST00000377833.10 protein_coding 52/67 - - - 8196 8150 2717 S/W tCg/tGg rs2796835 - -1 - HGNC HGNC:2548 NM_001081.4 - 1 P1 - Ensembl - G G - tolerated(1) benign(0) 1.0000 benign - 1 20398757,30900415,28425954 - - - - - . 10:16901372-16901372 C downstream_gene_variant MODIFIER CUBN ENSG00000107611 Transcript ENST00000648092.1 retained_intron - - - - - - - - - rs2796835 1 -1 - HGNC HGNC:2548 - - - - - Ensembl - G G - - - 1.0000 benign - 1 20398757,30900415,28425954 - - - - - . 10:16901372-16901372 C non_coding_transcript_exon_variant MODIFIER CUBN ENSG00000107611 Transcript ENST00000649933.1 protein_coding_CDS_not_defined 4/5 - - - 512 - - - - rs2796835 - -1 - HGNC HGNC:2548 - - - - - Ensembl - G G - - - 1.0000 benign - 1 20398757,30900415,28425954 - - - - - . 10:16901372-16901372 C missense_variant MODERATE CUBN 8029 Transcript NM_001081.4 protein_coding 52/67 - - - 8196 8150 2717 S/W tCg/tGg rs2796835 - -1 - EntrezGene HGNC:2548 ENST00000377833.10 - - - - RefSeq - G G - tolerated(1) benign(0) 1.0000 benign - 1 20398757,30900415,28425954 - - - - - . 10:16901372-16901372 C missense_variant MODERATE CUBN 8029 Transcript XM_011519708.3 protein_coding 52/55 - - - 8196 8150 2717 S/W tCg/tGg rs2796835 - -1 - EntrezGene HGNC:2548 - - - - - RefSeq - G G - - - 1.0000 benign - 1 20398757,30900415,28425954 - - - - - . 10:16901372-16901372 C missense_variant MODERATE CUBN 8029 Transcript XM_011519709.3 protein_coding 26/41 - - - 4222 4136 1379 S/W tCg/tGg rs2796835 - -1 - EntrezGene HGNC:2548 - - - - - RefSeq - G G - - - 1.0000 benign - 1 20398757,30900415,28425954 - - - - - . 10:16901372-16901372 C missense_variant MODERATE CUBN 8029 Transcript XM_011519710.3 protein_coding 26/41 - - - 4201 4112 1371 S/W tCg/tGg rs2796835 - -1 - EntrezGene HGNC:2548 - - - - - RefSeq - G G - - - 1.0000 benign - 1 20398757,30900415,28425954 - - - - - . 10:16901372-16901372 C missense_variant MODERATE CUBN 8029 Transcript XM_011519711.4 protein_coding 25/40 - - - 4180 3992 1331 S/W tCg/tGg rs2796835 - -1 - EntrezGene HGNC:2548 - - - - - RefSeq - G G - - - 1.0000 benign - 1 20398757,30900415,28425954 - - - - - . 10:16901372-16901372 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000941811 enhancer - - - - - - - - - rs2796835 - - - - - - - - - - - - - - - - - 1.0000 benign - 1 20398757,30900415,28425954 - - - - - . 10:16940245-16940245 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW CUBN ENSG00000107611 Transcript ENST00000377833.10 protein_coding - 36/66 - - - - - - - rs2271463,COSV64714301 - -1 - HGNC HGNC:2548 NM_001081.4 - 1 P1 - Ensembl - G G - - - 0.2304 benign 0,1 1,1 - - - - - - . 10:16940245-16940245 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW CUBN 8029 Transcript NM_001081.4 protein_coding - 36/66 - - - - - - - rs2271463,COSV64714301 - -1 - EntrezGene HGNC:2548 ENST00000377833.10 - - - - RefSeq - G G - - - 0.2304 benign 0,1 1,1 - - - - - - . 10:16940245-16940245 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW CUBN 8029 Transcript XM_011519708.3 protein_coding - 36/54 - - - - - - - rs2271463,COSV64714301 - -1 - EntrezGene HGNC:2548 - - - - - RefSeq - G G - - - 0.2304 benign 0,1 1,1 - - - - - - . 10:16940245-16940245 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW CUBN 8029 Transcript XM_011519709.3 protein_coding - 10/40 - - - - - - - rs2271463,COSV64714301 - -1 - EntrezGene HGNC:2548 - - - - - RefSeq - G G - - - 0.2304 benign 0,1 1,1 - - - - - - . 10:16940245-16940245 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW CUBN 8029 Transcript XM_011519710.3 protein_coding - 10/40 - - - - - - - rs2271463,COSV64714301 - -1 - EntrezGene HGNC:2548 - - - - - RefSeq - G G - - - 0.2304 benign 0,1 1,1 - - - - - - . 10:16940245-16940245 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW CUBN 8029 Transcript XM_011519711.4 protein_coding - 9/39 - - - - - - - rs2271463,COSV64714301 - -1 - EntrezGene HGNC:2548 - - - - - RefSeq - G G - - - 0.2304 benign 0,1 1,1 - - - - - - . 10:17068596-17068596 A intron_variant MODIFIER CUBN ENSG00000107611 Transcript ENST00000377833.10 protein_coding - 20/66 - - - - - - - rs10795440 - -1 - HGNC HGNC:2548 NM_001081.4 - 1 P1 - Ensembl - G G - - - 0.9111 benign - 1 - - - - - - . 10:17068596-17068596 A intron_variant MODIFIER CUBN 8029 Transcript NM_001081.4 protein_coding - 20/66 - - - - - - - rs10795440 - -1 - EntrezGene HGNC:2548 ENST00000377833.10 - - - - RefSeq - G G - - - 0.9111 benign - 1 - - - - - - . 10:17068596-17068596 A intron_variant MODIFIER CUBN 8029 Transcript XM_011519708.3 protein_coding - 20/54 - - - - - - - rs10795440 - -1 - EntrezGene HGNC:2548 - - - - - RefSeq - G G - - - 0.9111 benign - 1 - - - - - - . 10:17775894-17775894 C intron_variant MODIFIER TMEM236 ENSG00000148483 Transcript ENST00000377495.2 protein_coding - 2/3 - - - - - - - rs1181956480 - 1 - HGNC HGNC:23473 NM_001098844.3 - 2 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:17775894-17775894 C intron_variant MODIFIER TMEM236 653567 Transcript NM_001098844.3 protein_coding - 2/3 - - - - - - - rs1181956480 - 1 - EntrezGene HGNC:23473 ENST00000377495.2 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:17775894-17775894 C intron_variant MODIFIER TMEM236 653567 Transcript XM_017016574.2 protein_coding - 2/3 - - - - - - - rs1181956480 - 1 - EntrezGene HGNC:23473 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:17845086-17845086 G upstream_gene_variant MODIFIER MIR511 ENSG00000207938 Transcript ENST00000385203.1 miRNA - - - - - - - - - rs782723704 21 1 - HGNC HGNC:32077 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:17845086-17845086 G intron_variant MODIFIER MRC1 ENSG00000260314 Transcript ENST00000569591.3 protein_coding - 5/29 - - - - - - - rs782723704 - 1 - HGNC HGNC:7228 NM_002438.4 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:17845086-17845086 G intron_variant MODIFIER MRC1 4360 Transcript NM_002438.4 protein_coding - 5/29 - - - - - - - rs782723704 - 1 - EntrezGene HGNC:7228 ENST00000569591.3 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:17845086-17845086 G upstream_gene_variant MODIFIER MIR511 574445 Transcript NR_030167.1 miRNA - - - - - - - - - rs782723704 21 1 - EntrezGene HGNC:32077 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:17849701-17849701 A downstream_gene_variant MODIFIER MIR511 ENSG00000207938 Transcript ENST00000385203.1 miRNA - - - - - - - - - rs606231248,CM099897 4508 1 - HGNC HGNC:32077 - - - - - Ensembl - G G - - - - uncertain_risk_allele,risk_factor - 1,1 20035344 - - - - - . 10:17849701-17849701 A missense_variant MODERATE MRC1 ENSG00000260314 Transcript ENST00000569591.3 protein_coding 7/30 - - - 1304 1186 396 G/S Ggt/Agt rs606231248,CM099897 - 1 - HGNC HGNC:7228 NM_002438.4 - 1 P1 - Ensembl - G G - tolerated(0.15) probably_damaging(1) - uncertain_risk_allele,risk_factor - 1,1 20035344 - - - - - . 10:17849701-17849701 A missense_variant MODERATE MRC1 4360 Transcript NM_002438.4 protein_coding 7/30 - - - 1304 1186 396 G/S Ggt/Agt rs606231248,CM099897 - 1 - EntrezGene HGNC:7228 ENST00000569591.3 - - - - RefSeq - G G - tolerated(0.15) probably_damaging(1) - uncertain_risk_allele,risk_factor - 1,1 20035344 - - - - - . 10:17849701-17849701 A downstream_gene_variant MODIFIER MIR511 574445 Transcript NR_030167.1 miRNA - - - - - - - - - rs606231248,CM099897 4508 1 - EntrezGene HGNC:32077 - - - - - RefSeq - G G - - - - uncertain_risk_allele,risk_factor - 1,1 20035344 - - - - - . 10:17849736-17849736 C downstream_gene_variant MODIFIER MIR511 ENSG00000207938 Transcript ENST00000385203.1 miRNA - - - - - - - - - rs71497225 4543 1 - HGNC HGNC:32077 - - - - - Ensembl - G G - - - 0.2895 - - - 35806091 - - - - - . 10:17849736-17849736 C missense_variant MODERATE MRC1 ENSG00000260314 Transcript ENST00000569591.3 protein_coding 7/30 - - - 1339 1221 407 L/F ttG/ttC rs71497225 - 1 - HGNC HGNC:7228 NM_002438.4 - 1 P1 - Ensembl - G G - tolerated(0.5) benign(0) 0.2895 - - - 35806091 - - - - - . 10:17849736-17849736 C missense_variant MODERATE MRC1 4360 Transcript NM_002438.4 protein_coding 7/30 - - - 1339 1221 407 L/F ttG/ttC rs71497225 - 1 - EntrezGene HGNC:7228 ENST00000569591.3 - - - - RefSeq - G G - tolerated(0.5) benign(0) 0.2895 - - - 35806091 - - - - - . 10:17849736-17849736 C downstream_gene_variant MODIFIER MIR511 574445 Transcript NR_030167.1 miRNA - - - - - - - - - rs71497225 4543 1 - EntrezGene HGNC:32077 - - - - - RefSeq - G G - - - 0.2895 - - - 35806091 - - - - - . 10:17849818-17849818 C downstream_gene_variant MODIFIER MIR511 ENSG00000207938 Transcript ENST00000385203.1 miRNA - - - - - - - - - rs71497226 4625 1 - HGNC HGNC:32077 - - - - - Ensembl - T T - - - 0.2859 - - - - - - - - - . 10:17849818-17849818 C intron_variant MODIFIER MRC1 ENSG00000260314 Transcript ENST00000569591.3 protein_coding - 7/29 - - - - - - - rs71497226 - 1 - HGNC HGNC:7228 NM_002438.4 - 1 P1 - Ensembl - T T - - - 0.2859 - - - - - - - - - . 10:17849818-17849818 C intron_variant MODIFIER MRC1 4360 Transcript NM_002438.4 protein_coding - 7/29 - - - - - - - rs71497226 - 1 - EntrezGene HGNC:7228 ENST00000569591.3 - - - - RefSeq - T T - - - 0.2859 - - - - - - - - - . 10:17849818-17849818 C downstream_gene_variant MODIFIER MIR511 574445 Transcript NR_030167.1 miRNA - - - - - - - - - rs71497226 4625 1 - EntrezGene HGNC:32077 - - - - - RefSeq - T T - - - 0.2859 - - - - - - - - - . 10:17863686-17863686 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000235637 Transcript ENST00000442231.1 lncRNA - 1/1 - - - - - - - rs691761 - -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:17863686-17863686 T splice_donor_region_variant,intron_variant LOW MRC1 ENSG00000260314 Transcript ENST00000569591.3 protein_coding - 11/29 - - - - - - - rs691761 - 1 - HGNC HGNC:7228 NM_002438.4 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:17863686-17863686 T splice_donor_region_variant,intron_variant LOW MRC1 4360 Transcript NM_002438.4 protein_coding - 11/29 - - - - - - - rs691761 - 1 - EntrezGene HGNC:7228 ENST00000569591.3 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:17866546-17866546 T upstream_gene_variant MODIFIER - ENSG00000235637 Transcript ENST00000442231.1 lncRNA - - - - - - - - - rs35894097 1075 -1 - - - - - 3 - - Ensembl - C C - - - 0.1180 - - - - - - - - - . 10:17866546-17866546 T splice_polypyrimidine_tract_variant,intron_variant LOW MRC1 ENSG00000260314 Transcript ENST00000569591.3 protein_coding - 11/29 - - - - - - - rs35894097 - 1 - HGNC HGNC:7228 NM_002438.4 - 1 P1 - Ensembl - C C - - - 0.1180 - - - - - - - - - . 10:17866546-17866546 T splice_polypyrimidine_tract_variant,intron_variant LOW MRC1 4360 Transcript NM_002438.4 protein_coding - 11/29 - - - - - - - rs35894097 - 1 - EntrezGene HGNC:7228 ENST00000569591.3 - - - - RefSeq - C C - - - 0.1180 - - - - - - - - - . 10:17907459-17907459 G intron_variant MODIFIER MRC1 ENSG00000260314 Transcript ENST00000569591.3 protein_coding - 27/29 - - - - - - - rs1037448519 - 1 - HGNC HGNC:7228 NM_002438.4 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:17907459-17907459 G intron_variant MODIFIER MRC1 4360 Transcript NM_002438.4 protein_coding - 27/29 - - - - - - - rs1037448519 - 1 - EntrezGene HGNC:7228 ENST00000569591.3 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:17907664-17907664 T synonymous_variant LOW MRC1 ENSG00000260314 Transcript ENST00000569591.3 protein_coding 28/30 - - - 4162 4044 1348 S tcA/tcT rs529003 - 1 - HGNC HGNC:7228 NM_002438.4 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:17907664-17907664 T synonymous_variant LOW MRC1 4360 Transcript NM_002438.4 protein_coding 28/30 - - - 4162 4044 1348 S tcA/tcT rs529003 - 1 - EntrezGene HGNC:7228 ENST00000569591.3 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:17907664-17907664 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000397366 open_chromatin_region - - - - - - - - - rs529003 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:17977854-17977854 T intron_variant MODIFIER SLC39A12 ENSG00000148482 Transcript ENST00000377369.7 protein_coding - 4/12 - - - - - - - rs1926740,COSV66196377 - 1 - HGNC HGNC:20860 NM_001145195.2 - 1 A1 - Ensembl - G G - - - 0.4397 - 0,1 0,1 - - - - - - . 10:17977854-17977854 T intron_variant MODIFIER SLC39A12 ENSG00000148482 Transcript ENST00000377371.3 protein_coding - 4/12 - - - - - - - rs1926740,COSV66196377 - 1 - HGNC HGNC:20860 - - 1 P4 - Ensembl - G G - - - 0.4397 - 0,1 0,1 - - - - - - . 10:17977854-17977854 T intron_variant MODIFIER SLC39A12 ENSG00000148482 Transcript ENST00000377374.8 protein_coding - 4/11 - - - - - - - rs1926740,COSV66196377 - 1 - HGNC HGNC:20860 - - 2 - - Ensembl - G G - - - 0.4397 - 0,1 0,1 - - - - - - . 10:17977854-17977854 T intron_variant MODIFIER SLC39A12 ENSG00000148482 Transcript ENST00000539911.5 protein_coding - 3/11 - - - - - - - rs1926740,COSV66196377 - 1 - HGNC HGNC:20860 - - 2 - - Ensembl - G G - - - 0.4397 - 0,1 0,1 - - - - - - . 10:17977854-17977854 T intron_variant MODIFIER SLC39A12 221074 Transcript NM_001145195.2 protein_coding - 4/12 - - - - - - - rs1926740,COSV66196377 - 1 - EntrezGene HGNC:20860 ENST00000377369.7 - - - - RefSeq - G G - - - 0.4397 - 0,1 0,1 - - - - - - . 10:17977854-17977854 T intron_variant MODIFIER SLC39A12 221074 Transcript NM_001282733.2 protein_coding - 4/12 - - - - - - - rs1926740,COSV66196377 - 1 - EntrezGene HGNC:20860 - - - - - RefSeq - G G - - - 0.4397 - 0,1 0,1 - - - - - - . 10:17977854-17977854 T intron_variant MODIFIER SLC39A12 221074 Transcript NM_001282734.2 protein_coding - 3/11 - - - - - - - rs1926740,COSV66196377 - 1 - EntrezGene HGNC:20860 - - - - - RefSeq - G G - - - 0.4397 - 0,1 0,1 - - - - - - . 10:17977854-17977854 T intron_variant MODIFIER SLC39A12 221074 Transcript NM_152725.4 protein_coding - 4/11 - - - - - - - rs1926740,COSV66196377 - 1 - EntrezGene HGNC:20860 - - - - - RefSeq - G G - - - 0.4397 - 0,1 0,1 - - - - - - . 10:17978060-17978060 A missense_variant MODERATE SLC39A12 ENSG00000148482 Transcript ENST00000377369.7 protein_coding 5/13 - - - 1104 910 304 V/I Gtt/Att rs2478568,COSV101070232 - 1 - HGNC HGNC:20860 NM_001145195.2 - 1 A1 - Ensembl - G G - tolerated(0.33) benign(0) 0.6647 - 0,1 0,1 16385451 - - - - - . 10:17978060-17978060 A missense_variant MODERATE SLC39A12 ENSG00000148482 Transcript ENST00000377371.3 protein_coding 5/13 - - - 1108 910 304 V/I Gtt/Att rs2478568,COSV101070232 - 1 - HGNC HGNC:20860 - - 1 P4 - Ensembl - G G - tolerated(0.58) benign(0) 0.6647 - 0,1 0,1 16385451 - - - - - . 10:17978060-17978060 A missense_variant MODERATE SLC39A12 ENSG00000148482 Transcript ENST00000377374.8 protein_coding 5/12 - - - 1130 910 304 V/I Gtt/Att rs2478568,COSV101070232 - 1 - HGNC HGNC:20860 - - 2 - - Ensembl - G G - tolerated(0.61) benign(0) 0.6647 - 0,1 0,1 16385451 - - - - - . 10:17978060-17978060 A missense_variant MODERATE SLC39A12 ENSG00000148482 Transcript ENST00000539911.5 protein_coding 4/12 - - - 836 508 170 V/I Gtt/Att rs2478568,COSV101070232 - 1 - HGNC HGNC:20860 - - 2 - - Ensembl - G G - tolerated(0.37) benign(0) 0.6647 - 0,1 0,1 16385451 - - - - - . 10:17978060-17978060 A missense_variant MODERATE SLC39A12 221074 Transcript NM_001145195.2 protein_coding 5/13 - - - 1104 910 304 V/I Gtt/Att rs2478568,COSV101070232 - 1 - EntrezGene HGNC:20860 ENST00000377369.7 - - - - RefSeq - G G - tolerated(0.33) benign(0) 0.6647 - 0,1 0,1 16385451 - - - - - . 10:17978060-17978060 A missense_variant MODERATE SLC39A12 221074 Transcript NM_001282733.2 protein_coding 5/13 - - - 1104 910 304 V/I Gtt/Att rs2478568,COSV101070232 - 1 - EntrezGene HGNC:20860 - - - - - RefSeq - G G - tolerated(0.58) benign(0) 0.6647 - 0,1 0,1 16385451 - - - - - . 10:17978060-17978060 A missense_variant MODERATE SLC39A12 221074 Transcript NM_001282734.2 protein_coding 4/12 - - - 757 508 170 V/I Gtt/Att rs2478568,COSV101070232 - 1 - EntrezGene HGNC:20860 - - - - - RefSeq - G G - tolerated(0.37) benign(0) 0.6647 - 0,1 0,1 16385451 - - - - - . 10:17978060-17978060 A missense_variant MODERATE SLC39A12 221074 Transcript NM_152725.4 protein_coding 5/12 - - - 1104 910 304 V/I Gtt/Att rs2478568,COSV101070232 - 1 - EntrezGene HGNC:20860 - - - - - RefSeq - G G - tolerated(0.61) benign(0) 0.6647 - 0,1 0,1 16385451 - - - - - . 10:17991285-17991285 A synonymous_variant LOW SLC39A12 ENSG00000148482 Transcript ENST00000377369.7 protein_coding 8/13 - - - 1598 1404 468 L ctT/ctA rs59434947,COSV66202354 - 1 - HGNC HGNC:20860 NM_001145195.2 - 1 A1 - Ensembl - T T - - - 0.1410 - 0,1 0,1 - - - - - - . 10:17991285-17991285 A synonymous_variant LOW SLC39A12 ENSG00000148482 Transcript ENST00000377371.3 protein_coding 8/13 - - - 1602 1404 468 L ctT/ctA rs59434947,COSV66202354 - 1 - HGNC HGNC:20860 - - 1 P4 - Ensembl - T T - - - 0.1410 - 0,1 0,1 - - - - - - . 10:17991285-17991285 A synonymous_variant LOW SLC39A12 ENSG00000148482 Transcript ENST00000377374.8 protein_coding 8/12 - - - 1624 1404 468 L ctT/ctA rs59434947,COSV66202354 - 1 - HGNC HGNC:20860 - - 2 - - Ensembl - T T - - - 0.1410 - 0,1 0,1 - - - - - - . 10:17991285-17991285 A synonymous_variant LOW SLC39A12 ENSG00000148482 Transcript ENST00000539911.5 protein_coding 7/12 - - - 1330 1002 334 L ctT/ctA rs59434947,COSV66202354 - 1 - HGNC HGNC:20860 - - 2 - - Ensembl - T T - - - 0.1410 - 0,1 0,1 - - - - - - . 10:17991285-17991285 A synonymous_variant LOW SLC39A12 221074 Transcript NM_001145195.2 protein_coding 8/13 - - - 1598 1404 468 L ctT/ctA rs59434947,COSV66202354 - 1 - EntrezGene HGNC:20860 ENST00000377369.7 - - - - RefSeq - T T - - - 0.1410 - 0,1 0,1 - - - - - - . 10:17991285-17991285 A synonymous_variant LOW SLC39A12 221074 Transcript NM_001282733.2 protein_coding 8/13 - - - 1598 1404 468 L ctT/ctA rs59434947,COSV66202354 - 1 - EntrezGene HGNC:20860 - - - - - RefSeq - T T - - - 0.1410 - 0,1 0,1 - - - - - - . 10:17991285-17991285 A synonymous_variant LOW SLC39A12 221074 Transcript NM_001282734.2 protein_coding 7/12 - - - 1251 1002 334 L ctT/ctA rs59434947,COSV66202354 - 1 - EntrezGene HGNC:20860 - - - - - RefSeq - T T - - - 0.1410 - 0,1 0,1 - - - - - - . 10:17991285-17991285 A synonymous_variant LOW SLC39A12 221074 Transcript NM_152725.4 protein_coding 8/12 - - - 1598 1404 468 L ctT/ctA rs59434947,COSV66202354 - 1 - EntrezGene HGNC:20860 - - - - - RefSeq - T T - - - 0.1410 - 0,1 0,1 - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 ENSG00000241058 Transcript ENST00000377304.7 protein_coding - 2/10 - - - - - - - rs7907153 - -1 - HGNC HGNC:23529 NM_182543.5 - 1 P1 - Ensembl - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 ENSG00000241058 Transcript ENST00000606425.2 protein_coding - 2/4 - - - - - - - rs7907153 - -1 cds_end_NF HGNC HGNC:23529 - - 4 - - Ensembl - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript NM_001351115.2 protein_coding - 2/10 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript NM_001351116.2 protein_coding - 3/11 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript NM_001351117.2 protein_coding - 1/9 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript NM_001351118.2 protein_coding - 1/8 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript NM_182543.5 protein_coding - 2/10 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 ENST00000377304.7 - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_011519383.2 protein_coding - 2/10 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_011519384.2 protein_coding - 4/12 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_011519385.2 protein_coding - 3/11 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_011519386.3 protein_coding - 3/11 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_011519387.3 protein_coding - 1/9 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_017015907.3 protein_coding - 3/11 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_024447884.2 protein_coding - 3/11 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_047424777.1 protein_coding - 2/10 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_047424778.1 protein_coding - 4/12 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_047424779.1 protein_coding - 3/11 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_047424780.1 protein_coding - 2/9 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_047424781.1 protein_coding - 1/8 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_047424782.1 protein_coding - 2/9 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_047424783.1 protein_coding - 1/9 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18642583-18642583 C intron_variant MODIFIER NSUN6 221078 Transcript XM_047424784.1 protein_coding - 2/7 - - - - - - - rs7907153 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - T T - - - 0.6354 - - - - - - - - - . 10:18651228-18651228 A 5_prime_UTR_variant MODIFIER NSUN6 ENSG00000241058 Transcript ENST00000377304.7 protein_coding 1/11 - - - 360 - - - - rs3740102,COSV66032771 - -1 - HGNC HGNC:23529 NM_182543.5 - 1 P1 - Ensembl - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A downstream_gene_variant MODIFIER NSUN6 ENSG00000241058 Transcript ENST00000414939.1 retained_intron - - - - - - - - - rs3740102,COSV66032771 3636 -1 - HGNC HGNC:23529 - - 3 - - Ensembl - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A downstream_gene_variant MODIFIER NSUN6 ENSG00000241058 Transcript ENST00000444660.1 retained_intron - - - - - - - - - rs3740102,COSV66032771 3460 -1 - HGNC HGNC:23529 - - 4 - - Ensembl - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A downstream_gene_variant MODIFIER NSUN6 ENSG00000241058 Transcript ENST00000449529.1 retained_intron - - - - - - - - - rs3740102,COSV66032771 3323 -1 - HGNC HGNC:23529 - - 2 - - Ensembl - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A downstream_gene_variant MODIFIER NSUN6 ENSG00000241058 Transcript ENST00000456217.5 protein_coding_CDS_not_defined - - - - - - - - - rs3740102,COSV66032771 38 -1 - HGNC HGNC:23529 - - 3 - - Ensembl - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A intron_variant MODIFIER NSUN6 ENSG00000241058 Transcript ENST00000606425.2 protein_coding - 1/4 - - - - - - - rs3740102,COSV66032771 - -1 cds_end_NF HGNC HGNC:23529 - - 4 - - Ensembl - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A downstream_gene_variant MODIFIER NSUN6 ENSG00000241058 Transcript ENST00000607346.1 nonsense_mediated_decay - - - - - - - - - rs3740102,COSV66032771 2056 -1 - HGNC HGNC:23529 - - 4 - - Ensembl - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A 5_prime_UTR_variant MODIFIER NSUN6 221078 Transcript NM_001351115.2 protein_coding 1/11 - - - 360 - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A intron_variant MODIFIER NSUN6 221078 Transcript NM_001351116.2 protein_coding - 2/11 - - - - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A 5_prime_UTR_variant MODIFIER NSUN6 221078 Transcript NM_001351117.2 protein_coding 1/10 - - - 360 - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A 5_prime_UTR_variant MODIFIER NSUN6 221078 Transcript NM_001351118.2 protein_coding 1/9 - - - 360 - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A 5_prime_UTR_variant MODIFIER NSUN6 221078 Transcript NM_182543.5 protein_coding 1/11 - - - 360 - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 ENST00000377304.7 - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A 5_prime_UTR_variant MODIFIER NSUN6 221078 Transcript XM_011519383.2 protein_coding 1/11 - - - 360 - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A intron_variant MODIFIER NSUN6 221078 Transcript XM_011519384.2 protein_coding - 3/12 - - - - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A intron_variant MODIFIER NSUN6 221078 Transcript XM_011519385.2 protein_coding - 2/11 - - - - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A intron_variant MODIFIER NSUN6 221078 Transcript XM_011519386.3 protein_coding - 2/11 - - - - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A 5_prime_UTR_variant MODIFIER NSUN6 221078 Transcript XM_011519387.3 protein_coding 1/10 - - - 360 - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A intron_variant MODIFIER NSUN6 221078 Transcript XM_017015907.3 protein_coding - 2/11 - - - - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A intron_variant MODIFIER NSUN6 221078 Transcript XM_024447884.2 protein_coding - 2/11 - - - - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A 5_prime_UTR_variant MODIFIER NSUN6 221078 Transcript XM_047424777.1 protein_coding 1/11 - - - 360 - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A intron_variant MODIFIER NSUN6 221078 Transcript XM_047424778.1 protein_coding - 3/12 - - - - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A intron_variant MODIFIER NSUN6 221078 Transcript XM_047424779.1 protein_coding - 2/11 - - - - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A 5_prime_UTR_variant MODIFIER NSUN6 221078 Transcript XM_047424780.1 protein_coding 1/10 - - - 360 - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A upstream_gene_variant MODIFIER NSUN6 221078 Transcript XM_047424781.1 protein_coding - - - - - - - - - rs3740102,COSV66032771 2583 -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A 5_prime_UTR_variant MODIFIER NSUN6 221078 Transcript XM_047424782.1 protein_coding 1/10 - - - 360 - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A 5_prime_UTR_variant MODIFIER NSUN6 221078 Transcript XM_047424784.1 protein_coding 1/8 - - - 360 - - - - rs3740102,COSV66032771 - -1 - EntrezGene HGNC:23529 - - - - - RefSeq - C C - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:18651228-18651228 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000025228 promoter - - - - - - - - - rs3740102,COSV66032771 - - - - - - - - - - - - - - - - - 0.4062 - 0,1 0,1 36698387 - - - - - . 10:19203903-19203903 C intron_variant MODIFIER MALRD1 ENSG00000204740 Transcript ENST00000377266.7 protein_coding - 1/24 - - - - - - - rs7476259 - 1 cds_start_NF HGNC HGNC:24331 - - 5 - - Ensembl - A A - - - 0.9371 - - - - - - - - - . 10:19203903-19203903 C intron_variant MODIFIER MALRD1 ENSG00000204740 Transcript ENST00000454679.7 protein_coding - 15/39 - - - - - - - rs7476259 - 1 - HGNC HGNC:24331 NM_001142308.3 - 1 P1 - Ensembl - A A - - - 0.9371 - - - - - - - - - . 10:19203903-19203903 C intron_variant MODIFIER MALRD1 340895 Transcript NM_001142308.3 protein_coding - 15/39 - - - - - - - rs7476259 - 1 - EntrezGene HGNC:24331 ENST00000454679.7 - - - - RefSeq - A A - - - 0.9371 - - - - - - - - - . 10:19203903-19203903 C intron_variant MODIFIER MALRD1 340895 Transcript XM_011519453.3 protein_coding - 16/40 - - - - - - - rs7476259 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.9371 - - - - - - - - - . 10:19203903-19203903 C intron_variant MODIFIER MALRD1 340895 Transcript XM_011519454.2 protein_coding - 16/40 - - - - - - - rs7476259 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.9371 - - - - - - - - - . 10:19203903-19203903 C intron_variant MODIFIER MALRD1 340895 Transcript XM_011519455.3 protein_coding - 15/39 - - - - - - - rs7476259 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.9371 - - - - - - - - - . 10:19203903-19203903 C intron_variant MODIFIER MALRD1 340895 Transcript XM_017016182.1 protein_coding - 15/39 - - - - - - - rs7476259 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.9371 - - - - - - - - - . 10:19203903-19203903 C intron_variant MODIFIER MALRD1 340895 Transcript XM_017016183.2 protein_coding - 16/37 - - - - - - - rs7476259 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.9371 - - - - - - - - - . 10:19203903-19203903 C intron_variant MODIFIER MALRD1 340895 Transcript XM_017016184.1 protein_coding - 4/28 - - - - - - - rs7476259 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.9371 - - - - - - - - - . 10:19203903-19203903 C intron_variant MODIFIER MALRD1 340895 Transcript XM_017016185.1 protein_coding - 4/28 - - - - - - - rs7476259 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.9371 - - - - - - - - - . 10:19203903-19203903 C intron_variant MODIFIER MALRD1 340895 Transcript XM_047425167.1 protein_coding - 16/33 - - - - - - - rs7476259 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.9371 - - - - - - - - - . 10:19203903-19203903 C intron_variant MODIFIER MALRD1 340895 Transcript XM_047425168.1 protein_coding - 16/22 - - - - - - - rs7476259 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.9371 - - - - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 ENSG00000204740 Transcript ENST00000377266.7 protein_coding - 6/24 - - - - - - - rs2499066,COSV65990867 - 1 cds_start_NF HGNC HGNC:24331 - - 5 - - Ensembl - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 ENSG00000204740 Transcript ENST00000454679.7 protein_coding - 20/39 - - - - - - - rs2499066,COSV65990867 - 1 - HGNC HGNC:24331 NM_001142308.3 - 1 P1 - Ensembl - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript NM_001142308.3 protein_coding - 20/39 - - - - - - - rs2499066,COSV65990867 - 1 - EntrezGene HGNC:24331 ENST00000454679.7 - - - - RefSeq - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_011519453.3 protein_coding - 21/40 - - - - - - - rs2499066,COSV65990867 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_011519454.2 protein_coding - 21/40 - - - - - - - rs2499066,COSV65990867 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_011519455.3 protein_coding - 20/39 - - - - - - - rs2499066,COSV65990867 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_017016182.1 protein_coding - 20/39 - - - - - - - rs2499066,COSV65990867 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_017016183.2 protein_coding - 21/37 - - - - - - - rs2499066,COSV65990867 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_017016184.1 protein_coding - 9/28 - - - - - - - rs2499066,COSV65990867 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_017016185.1 protein_coding - 9/28 - - - - - - - rs2499066,COSV65990867 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_017016186.1 protein_coding - 2/21 - - - - - - - rs2499066,COSV65990867 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_047425167.1 protein_coding - 21/33 - - - - - - - rs2499066,COSV65990867 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19283012-19283012 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_047425168.1 protein_coding - 21/22 - - - - - - - rs2499066,COSV65990867 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - A A - - - 0.4730 - 0,1 0,1 - - - - - - . 10:19352310-19352324 - intron_variant MODIFIER MALRD1 ENSG00000204740 Transcript ENST00000377266.7 protein_coding - 12/24 - - - - - - - - - 1 cds_start_NF HGNC HGNC:24331 - - 5 - - Ensembl - TG TG - - - - - - - - - - - - - . 10:19352310-19352324 - intron_variant MODIFIER MALRD1 ENSG00000204740 Transcript ENST00000454679.7 protein_coding - 26/39 - - - - - - - - - 1 - HGNC HGNC:24331 NM_001142308.3 - 1 P1 - Ensembl - TG TG - - - - - - - - - - - - - . 10:19352310-19352324 - intron_variant MODIFIER MALRD1 340895 Transcript NM_001142308.3 protein_coding - 26/39 - - - - - - - - - 1 - EntrezGene HGNC:24331 ENST00000454679.7 - - - - RefSeq - TG TG - - - - - - - - - - - - - . 10:19352310-19352324 - intron_variant MODIFIER MALRD1 340895 Transcript XM_011519453.3 protein_coding - 27/40 - - - - - - - - - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - TG TG - - - - - - - - - - - - - . 10:19352310-19352324 - intron_variant MODIFIER MALRD1 340895 Transcript XM_011519454.2 protein_coding - 27/40 - - - - - - - - - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - TG TG - - - - - - - - - - - - - . 10:19352310-19352324 - intron_variant MODIFIER MALRD1 340895 Transcript XM_011519455.3 protein_coding - 26/39 - - - - - - - - - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - TG TG - - - - - - - - - - - - - . 10:19352310-19352324 - intron_variant MODIFIER MALRD1 340895 Transcript XM_017016182.1 protein_coding - 26/39 - - - - - - - - - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - TG TG - - - - - - - - - - - - - . 10:19352310-19352324 - intron_variant MODIFIER MALRD1 340895 Transcript XM_017016183.2 protein_coding - 27/37 - - - - - - - - - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - TG TG - - - - - - - - - - - - - . 10:19352310-19352324 - intron_variant MODIFIER MALRD1 340895 Transcript XM_017016184.1 protein_coding - 15/28 - - - - - - - - - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - TG TG - - - - - - - - - - - - - . 10:19352310-19352324 - intron_variant MODIFIER MALRD1 340895 Transcript XM_017016185.1 protein_coding - 15/28 - - - - - - - - - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - TG TG - - - - - - - - - - - - - . 10:19352310-19352324 - intron_variant MODIFIER MALRD1 340895 Transcript XM_017016186.1 protein_coding - 8/21 - - - - - - - - - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - TG TG - - - - - - - - - - - - - . 10:19352310-19352324 - intron_variant MODIFIER MALRD1 340895 Transcript XM_047425167.1 protein_coding - 27/33 - - - - - - - - - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - TG TG - - - - - - - - - - - - - . 10:19389357-19389357 T missense_variant MODERATE MALRD1 ENSG00000204740 Transcript ENST00000377266.7 protein_coding 14/25 - - - 2789 2789 930 T/M aCg/aTg rs10763974,COSV65983306 - 1 cds_start_NF HGNC HGNC:24331 - - 5 - - Ensembl - C C - tolerated(0.08) benign(0) 0.8305 - 0,1 0,1 - - - - - - . 10:19389357-19389357 T intron_variant MODIFIER MALRD1 ENSG00000204740 Transcript ENST00000454679.7 protein_coding - 27/39 - - - - - - - rs10763974,COSV65983306 - 1 - HGNC HGNC:24331 NM_001142308.3 - 1 P1 - Ensembl - C C - - - 0.8305 - 0,1 0,1 - - - - - - . 10:19389357-19389357 T intron_variant MODIFIER MALRD1 340895 Transcript NM_001142308.3 protein_coding - 27/39 - - - - - - - rs10763974,COSV65983306 - 1 - EntrezGene HGNC:24331 ENST00000454679.7 - - - - RefSeq - C C - - - 0.8305 - 0,1 0,1 - - - - - - . 10:19389357-19389357 T intron_variant MODIFIER MALRD1 340895 Transcript XM_011519453.3 protein_coding - 28/40 - - - - - - - rs10763974,COSV65983306 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8305 - 0,1 0,1 - - - - - - . 10:19389357-19389357 T intron_variant MODIFIER MALRD1 340895 Transcript XM_011519454.2 protein_coding - 28/40 - - - - - - - rs10763974,COSV65983306 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8305 - 0,1 0,1 - - - - - - . 10:19389357-19389357 T intron_variant MODIFIER MALRD1 340895 Transcript XM_011519455.3 protein_coding - 27/39 - - - - - - - rs10763974,COSV65983306 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8305 - 0,1 0,1 - - - - - - . 10:19389357-19389357 T intron_variant MODIFIER MALRD1 340895 Transcript XM_017016182.1 protein_coding - 27/39 - - - - - - - rs10763974,COSV65983306 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8305 - 0,1 0,1 - - - - - - . 10:19389357-19389357 T intron_variant MODIFIER MALRD1 340895 Transcript XM_017016183.2 protein_coding - 28/37 - - - - - - - rs10763974,COSV65983306 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8305 - 0,1 0,1 - - - - - - . 10:19389357-19389357 T intron_variant MODIFIER MALRD1 340895 Transcript XM_017016184.1 protein_coding - 16/28 - - - - - - - rs10763974,COSV65983306 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8305 - 0,1 0,1 - - - - - - . 10:19389357-19389357 T intron_variant MODIFIER MALRD1 340895 Transcript XM_017016185.1 protein_coding - 16/28 - - - - - - - rs10763974,COSV65983306 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8305 - 0,1 0,1 - - - - - - . 10:19389357-19389357 T intron_variant MODIFIER MALRD1 340895 Transcript XM_017016186.1 protein_coding - 9/21 - - - - - - - rs10763974,COSV65983306 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8305 - 0,1 0,1 - - - - - - . 10:19389357-19389357 T intron_variant MODIFIER MALRD1 340895 Transcript XM_047425167.1 protein_coding - 28/33 - - - - - - - rs10763974,COSV65983306 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8305 - 0,1 0,1 - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 ENSG00000204740 Transcript ENST00000377265.3 protein_coding - 1/11 - - - - - - - rs79327645 - 1 cds_start_NF HGNC HGNC:24331 - - 2 - - Ensembl - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 ENSG00000204740 Transcript ENST00000377266.7 protein_coding - 16/24 - - - - - - - rs79327645 - 1 cds_start_NF HGNC HGNC:24331 - - 5 - - Ensembl - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C downstream_gene_variant MODIFIER HMGN1P20 ENSG00000239539 Transcript ENST00000411849.1 processed_pseudogene - - - - - - - - - rs79327645 2114 1 - HGNC HGNC:39364 - - - - - Ensembl - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C upstream_gene_variant MODIFIER - ENSG00000236960 Transcript ENST00000427935.1 processed_pseudogene - - - - - - - - - rs79327645 215 -1 - - - - - - - - Ensembl - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 ENSG00000204740 Transcript ENST00000454679.7 protein_coding - 29/39 - - - - - - - rs79327645 - 1 - HGNC HGNC:24331 NM_001142308.3 - 1 P1 - Ensembl - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW MALRD1 ENSG00000204740 Transcript ENST00000492202.1 protein_coding_CDS_not_defined - 1/4 - - - - - - - rs79327645 - 1 - HGNC HGNC:24331 - - 4 - - Ensembl - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript NM_001142308.3 protein_coding - 29/39 - - - - - - - rs79327645 - 1 - EntrezGene HGNC:24331 ENST00000454679.7 - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_011519453.3 protein_coding - 30/40 - - - - - - - rs79327645 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_011519454.2 protein_coding - 30/40 - - - - - - - rs79327645 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_011519455.3 protein_coding - 29/39 - - - - - - - rs79327645 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_017016182.1 protein_coding - 29/39 - - - - - - - rs79327645 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_017016183.2 protein_coding - 30/37 - - - - - - - rs79327645 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_017016184.1 protein_coding - 18/28 - - - - - - - rs79327645 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_017016185.1 protein_coding - 18/28 - - - - - - - rs79327645 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_017016186.1 protein_coding - 11/21 - - - - - - - rs79327645 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:19491514-19491514 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MALRD1 340895 Transcript XM_047425167.1 protein_coding - 30/33 - - - - - - - rs79327645 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:19595335-19595335 A upstream_gene_variant MODIFIER U3 ENSG00000200545 Transcript ENST00000363675.2 snoRNA - - - - - - - - - rs10827628,COSV63196343 2912 1 - RFAM - - - - - - Ensembl - G G - - - 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A missense_variant MODERATE MALRD1 ENSG00000204740 Transcript ENST00000377265.3 protein_coding 6/12 - - - 873 875 292 S/N aGc/aAc rs10827628,COSV63196343 - 1 cds_start_NF HGNC HGNC:24331 - - 2 - - Ensembl - G G - tolerated(0.21) benign(0.058) 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A missense_variant MODERATE MALRD1 ENSG00000204740 Transcript ENST00000377266.7 protein_coding 21/25 - - - 3959 3959 1320 S/N aGc/aAc rs10827628,COSV63196343 - 1 cds_start_NF HGNC HGNC:24331 - - 5 - - Ensembl - G G - tolerated(0.27) benign(0.05) 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A missense_variant MODERATE MALRD1 ENSG00000204740 Transcript ENST00000454679.7 protein_coding 34/40 - - - 5960 5822 1941 S/N aGc/aAc rs10827628,COSV63196343 - 1 - HGNC HGNC:24331 NM_001142308.3 - 1 P1 - Ensembl - G G - tolerated(0.26) benign(0.097) 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A missense_variant MODERATE MALRD1 340895 Transcript NM_001142308.3 protein_coding 34/40 - - - 5960 5822 1941 S/N aGc/aAc rs10827628,COSV63196343 - 1 - EntrezGene HGNC:24331 ENST00000454679.7 - - - - RefSeq - G G - tolerated(0.26) benign(0.097) 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A missense_variant MODERATE MALRD1 340895 Transcript XM_011519453.3 protein_coding 35/41 - - - 6639 5882 1961 S/N aGc/aAc rs10827628,COSV63196343 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - G G - - - 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A missense_variant MODERATE MALRD1 340895 Transcript XM_011519454.2 protein_coding 35/41 - - - 5858 5801 1934 S/N aGc/aAc rs10827628,COSV63196343 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - G G - - - 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A missense_variant MODERATE MALRD1 340895 Transcript XM_011519455.3 protein_coding 34/40 - - - 6465 5708 1903 S/N aGc/aAc rs10827628,COSV63196343 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - G G - - - 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A missense_variant MODERATE MALRD1 340895 Transcript XM_017016182.1 protein_coding 34/40 - - - 5800 5609 1870 S/N aGc/aAc rs10827628,COSV63196343 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - G G - - - 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A missense_variant MODERATE MALRD1 340895 Transcript XM_017016183.2 protein_coding 35/38 - - - 6639 5882 1961 S/N aGc/aAc rs10827628,COSV63196343 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - G G - - - 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A missense_variant MODERATE MALRD1 340895 Transcript XM_017016184.1 protein_coding 23/29 - - - 4217 4082 1361 S/N aGc/aAc rs10827628,COSV63196343 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - G G - - - 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A missense_variant MODERATE MALRD1 340895 Transcript XM_017016185.1 protein_coding 23/29 - - - 4214 4082 1361 S/N aGc/aAc rs10827628,COSV63196343 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - G G - - - 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A missense_variant MODERATE MALRD1 340895 Transcript XM_017016186.1 protein_coding 16/22 - - - 2771 2624 875 S/N aGc/aAc rs10827628,COSV63196343 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - G G - - - 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19595335-19595335 A upstream_gene_variant MODIFIER LOC124902595 124902595 Transcript XR_007062424.1 snoRNA - - - - - - - - - rs10827628,COSV63196343 2912 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.4579 - 0,1 0,1 16385451 - - - - - . 10:19607901-19607901 A splice_region_variant,synonymous_variant LOW MALRD1 ENSG00000204740 Transcript ENST00000377265.3 protein_coding 7/12 - - - 1120 1122 374 S tcC/tcA rs7909976,COSV65974998 - 1 cds_start_NF HGNC HGNC:24331 - - 2 - - Ensembl - C C - - - 0.8201 - 0,1 0,1 - - - - - - . 10:19607901-19607901 A splice_region_variant,synonymous_variant LOW MALRD1 ENSG00000204740 Transcript ENST00000377266.7 protein_coding 22/25 - - - 4206 4206 1402 S tcC/tcA rs7909976,COSV65974998 - 1 cds_start_NF HGNC HGNC:24331 - - 5 - - Ensembl - C C - - - 0.8201 - 0,1 0,1 - - - - - - . 10:19607901-19607901 A splice_region_variant,synonymous_variant LOW MALRD1 ENSG00000204740 Transcript ENST00000454679.7 protein_coding 35/40 - - - 6207 6069 2023 S tcC/tcA rs7909976,COSV65974998 - 1 - HGNC HGNC:24331 NM_001142308.3 - 1 P1 - Ensembl - C C - - - 0.8201 - 0,1 0,1 - - - - - - . 10:19607901-19607901 A splice_region_variant,synonymous_variant LOW MALRD1 340895 Transcript NM_001142308.3 protein_coding 35/40 - - - 6207 6069 2023 S tcC/tcA rs7909976,COSV65974998 - 1 - EntrezGene HGNC:24331 ENST00000454679.7 - - - - RefSeq - C C - - - 0.8201 - 0,1 0,1 - - - - - - . 10:19607901-19607901 A splice_region_variant,synonymous_variant LOW MALRD1 340895 Transcript XM_011519453.3 protein_coding 36/41 - - - 6886 6129 2043 S tcC/tcA rs7909976,COSV65974998 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8201 - 0,1 0,1 - - - - - - . 10:19607901-19607901 A splice_region_variant,synonymous_variant LOW MALRD1 340895 Transcript XM_011519454.2 protein_coding 36/41 - - - 6105 6048 2016 S tcC/tcA rs7909976,COSV65974998 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8201 - 0,1 0,1 - - - - - - . 10:19607901-19607901 A splice_region_variant,synonymous_variant LOW MALRD1 340895 Transcript XM_011519455.3 protein_coding 35/40 - - - 6712 5955 1985 S tcC/tcA rs7909976,COSV65974998 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8201 - 0,1 0,1 - - - - - - . 10:19607901-19607901 A splice_region_variant,synonymous_variant LOW MALRD1 340895 Transcript XM_017016182.1 protein_coding 35/40 - - - 6047 5856 1952 S tcC/tcA rs7909976,COSV65974998 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8201 - 0,1 0,1 - - - - - - . 10:19607901-19607901 A splice_region_variant,synonymous_variant LOW MALRD1 340895 Transcript XM_017016183.2 protein_coding 36/38 - - - 6886 6129 2043 S tcC/tcA rs7909976,COSV65974998 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8201 - 0,1 0,1 - - - - - - . 10:19607901-19607901 A splice_region_variant,synonymous_variant LOW MALRD1 340895 Transcript XM_017016184.1 protein_coding 24/29 - - - 4464 4329 1443 S tcC/tcA rs7909976,COSV65974998 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8201 - 0,1 0,1 - - - - - - . 10:19607901-19607901 A splice_region_variant,synonymous_variant LOW MALRD1 340895 Transcript XM_017016185.1 protein_coding 24/29 - - - 4461 4329 1443 S tcC/tcA rs7909976,COSV65974998 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8201 - 0,1 0,1 - - - - - - . 10:19607901-19607901 A splice_region_variant,synonymous_variant LOW MALRD1 340895 Transcript XM_017016186.1 protein_coding 17/22 - - - 3018 2871 957 S tcC/tcA rs7909976,COSV65974998 - 1 - EntrezGene HGNC:24331 - - - - - RefSeq - C C - - - 0.8201 - 0,1 0,1 - - - - - - . 10:20245404-20245404 G non_coding_transcript_exon_variant MODIFIER PLXDC2 ENSG00000120594 Transcript ENST00000377238.2 protein_coding_CDS_not_defined 12/13 - - - 1147 - - - - rs2778979,COSV65901940 - 1 - HGNC HGNC:21013 - - 5 - - Ensembl - A A - - - 0.7821 - 0,1 0,1 16385451 - - - - - . 10:20245404-20245404 G missense_variant MODERATE PLXDC2 ENSG00000120594 Transcript ENST00000377242.7 protein_coding 12/13 - - - 2066 1225 409 I/V Att/Gtt rs2778979,COSV65901940 - 1 - HGNC HGNC:21013 - - 1 - - Ensembl - A A - tolerated(1) benign(0) 0.7821 - 0,1 0,1 16385451 - - - - - . 10:20245404-20245404 G missense_variant MODERATE PLXDC2 ENSG00000120594 Transcript ENST00000377252.5 protein_coding 13/14 - - - 2020 1372 458 I/V Att/Gtt rs2778979,COSV65901940 - 1 - HGNC HGNC:21013 NM_032812.9 - 1 P1 - Ensembl - A A - tolerated(1) benign(0) 0.7821 - 0,1 0,1 16385451 - - - - - . 10:20245404-20245404 G missense_variant MODERATE PLXDC2 84898 Transcript NM_001282736.2 protein_coding 12/13 - - - 1873 1225 409 I/V Att/Gtt rs2778979,COSV65901940 - 1 - EntrezGene HGNC:21013 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.7821 - 0,1 0,1 16385451 - - - - - . 10:20245404-20245404 G missense_variant MODERATE PLXDC2 84898 Transcript NM_032812.9 protein_coding 13/14 - - - 2020 1372 458 I/V Att/Gtt rs2778979,COSV65901940 - 1 - EntrezGene HGNC:21013 ENST00000377252.5 - - - - RefSeq - A A - tolerated(1) benign(0) 0.7821 - 0,1 0,1 16385451 - - - - - . 10:20245404-20245404 G missense_variant MODERATE PLXDC2 84898 Transcript XM_011519750.3 protein_coding 13/14 - - - 2020 1372 458 I/V Att/Gtt rs2778979,COSV65901940 - 1 - EntrezGene HGNC:21013 - - - - - RefSeq - A A - - - 0.7821 - 0,1 0,1 16385451 - - - - - . 10:20815684-20815684 C missense_variant MODERATE NEBL ENSG00000078114 Transcript ENST00000377122.9 protein_coding 22/28 - - - 2288 2182 728 T/A Act/Gct rs71535732,COSV65801953 - -1 - HGNC HGNC:16932 NM_006393.3 - 1 - - Ensembl - T T - tolerated(0.59) benign(0) 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000417816.2 protein_coding - 4/6 - - - - - - - rs71535732,COSV65801953 - -1 - HGNC HGNC:16932 - - 1 P1 - Ensembl - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C synonymous_variant,NMD_transcript_variant LOW NEBL ENSG00000078114 Transcript ENST00000460652.1 nonsense_mediated_decay 5/6 - - - 340 342 114 P ccA/ccG rs71535732,COSV65801953 - -1 cds_start_NF HGNC HGNC:16932 - - 3 - - Ensembl - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C missense_variant MODERATE NEBL ENSG00000078114 Transcript ENST00000473616.5 protein_coding 2/3 - - - 85 85 29 T/A Act/Gct rs71535732,COSV65801953 - -1 cds_start_NF HGNC HGNC:16932 - - 3 - - Ensembl - T T - tolerated_low_confidence(0.97) benign(0) 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000481592.5 nonsense_mediated_decay 4/5 - - - 317 - - - - rs71535732,COSV65801953 - -1 cds_start_NF HGNC HGNC:16932 - - 3 - - Ensembl - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C non_coding_transcript_exon_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000492325.5 retained_intron 1/2 - - - 142 - - - - rs71535732,COSV65801953 - -1 - HGNC HGNC:16932 - - 2 - - Ensembl - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C non_coding_transcript_exon_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000493005.5 retained_intron 9/12 - - - 1502 - - - - rs71535732,COSV65801953 - -1 - HGNC HGNC:16932 - - 1 - - Ensembl - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675114.1 protein_coding_CDS_not_defined - 6/8 - - - - - - - rs71535732,COSV65801953 - -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675700.1 protein_coding_CDS_not_defined - 4/6 - - - - - - - rs71535732,COSV65801953 - -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675702.1 protein_coding_CDS_not_defined - 6/8 - - - - - - - rs71535732,COSV65801953 - -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C downstream_gene_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675747.1 retained_intron - - - - - - - - - rs71535732,COSV65801953 2634 -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C missense_variant MODERATE NEBL ENSG00000078114 Transcript ENST00000676125.1 protein_coding 3/8 - - - 180 181 61 T/A Act/Gct rs71535732,COSV65801953 - -1 cds_start_NF HGNC HGNC:16932 - - - - - Ensembl - T T - tolerated_low_confidence(1) benign(0) 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant MODIFIER NEBL 10529 Transcript NM_001173484.2 protein_coding - 4/6 - - - - - - - rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377322.1 protein_coding - 4/7 - - - - - - - rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377323.1 protein_coding - 4/6 - - - - - - - rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377324.1 protein_coding - 4/6 - - - - - - - rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377325.1 protein_coding - 4/6 - - - - - - - rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377326.1 protein_coding - 4/6 - - - - - - - rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377327.1 protein_coding - 6/8 - - - - - - - rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377328.1 protein_coding - 4/6 - - - - - - - rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C missense_variant MODERATE NEBL 10529 Transcript NM_006393.3 protein_coding 22/28 - - - 2288 2182 728 T/A Act/Gct rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 ENST00000377122.9 - - - - RefSeq - T T - tolerated(0.59) benign(0) 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant MODIFIER NEBL 10529 Transcript NM_213569.2 protein_coding - 4/6 - - - - - - - rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T OK - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C missense_variant MODERATE NEBL 10529 Transcript XM_005252342.6 protein_coding 21/27 - - - 2186 2080 694 T/A Act/Gct rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C missense_variant MODERATE NEBL 10529 Transcript XM_005252343.6 protein_coding 22/26 - - - 2288 2182 728 T/A Act/Gct rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C missense_variant MODERATE NEBL 10529 Transcript XM_011519291.3 protein_coding 24/30 - - - 2571 2134 712 T/A Act/Gct rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C missense_variant MODERATE NEBL 10529 Transcript XM_047424443.1 protein_coding 25/31 - - - 2660 2134 712 T/A Act/Gct rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C intron_variant MODIFIER NEBL 10529 Transcript XM_047424444.1 protein_coding - 4/8 - - - - - - - rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C non_coding_transcript_exon_variant MODIFIER NEBL 10529 Transcript XR_001746995.3 misc_RNA 22/23 - - - 2290 - - - - rs71535732,COSV65801953 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20815684-20815684 C downstream_gene_variant MODIFIER NEBL 10529 Transcript XR_242691.6 misc_RNA - - - - - - - - - rs71535732,COSV65801953 1821 -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.0285 benign 0,1 1,1 24033266,27186169 - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000377122.9 protein_coding - 18/27 - - - - - - - rs1409348,COSV65801962 - -1 - HGNC HGNC:16932 NM_006393.3 - 1 - - Ensembl - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000417816.2 protein_coding - 4/6 - - - - - - - rs1409348,COSV65801962 - -1 - HGNC HGNC:16932 - - 1 P1 - Ensembl - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant,NMD_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000460652.1 nonsense_mediated_decay - 1/5 - - - - - - - rs1409348,COSV65801962 - -1 cds_start_NF HGNC HGNC:16932 - - 3 - - Ensembl - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000493005.5 retained_intron - 5/11 - - - - - - - rs1409348,COSV65801962 - -1 - HGNC HGNC:16932 - - 1 - - Ensembl - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C downstream_gene_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000498424.2 retained_intron - - - - - - - - - rs1409348,COSV65801962 4743 -1 - HGNC HGNC:16932 - - 5 - - Ensembl - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675114.1 protein_coding_CDS_not_defined - 6/8 - - - - - - - rs1409348,COSV65801962 - -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675700.1 protein_coding_CDS_not_defined - 4/6 - - - - - - - rs1409348,COSV65801962 - -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675702.1 protein_coding_CDS_not_defined - 6/8 - - - - - - - rs1409348,COSV65801962 - -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675747.1 retained_intron - 26/27 - - - - - - - rs1409348,COSV65801962 - -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript NM_001173484.2 protein_coding - 4/6 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377322.1 protein_coding - 4/7 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377323.1 protein_coding - 4/6 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377324.1 protein_coding - 4/6 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377325.1 protein_coding - 4/6 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377326.1 protein_coding - 4/6 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377327.1 protein_coding - 6/8 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377328.1 protein_coding - 4/6 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript NM_006393.3 protein_coding - 18/27 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 ENST00000377122.9 - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript NM_213569.2 protein_coding - 4/6 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T OK - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript XM_005252342.6 protein_coding - 17/26 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript XM_005252343.6 protein_coding - 18/25 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript XM_011519291.3 protein_coding - 20/29 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript XM_047424443.1 protein_coding - 21/30 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant MODIFIER NEBL 10529 Transcript XM_047424444.1 protein_coding - 4/8 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant,non_coding_transcript_variant MODIFIER NEBL 10529 Transcript XR_001746995.3 misc_RNA - 18/22 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20826403-20826403 C intron_variant,non_coding_transcript_variant MODIFIER NEBL 10529 Transcript XR_242691.6 misc_RNA - 18/20 - - - - - - - rs1409348,COSV65801962 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - 0.5583 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000377119.5 retained_intron - 2/6 - - - - - - - rs788971,COSV65799490 - -1 - HGNC HGNC:16932 - - 5 - - Ensembl - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000377122.9 protein_coding - 2/27 - - - - - - - rs788971,COSV65799490 - -1 - HGNC HGNC:16932 NM_006393.3 - 1 - - Ensembl - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000417816.2 protein_coding - 4/6 - - - - - - - rs788971,COSV65799490 - -1 - HGNC HGNC:16932 - - 1 P1 - Ensembl - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000434381.1 retained_intron - 2/4 - - - - - - - rs788971,COSV65799490 - -1 - HGNC HGNC:16932 - - 5 - - Ensembl - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000674540.1 protein_coding_CDS_not_defined - 5/10 - - - - - - - rs788971,COSV65799490 - -1 - HGNC HGNC:16932 - - - - - Ensembl - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675114.1 protein_coding_CDS_not_defined - 6/8 - - - - - - - rs788971,COSV65799490 - -1 - HGNC HGNC:16932 - - - - - Ensembl - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675700.1 protein_coding_CDS_not_defined - 4/6 - - - - - - - rs788971,COSV65799490 - -1 - HGNC HGNC:16932 - - - - - Ensembl - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675702.1 protein_coding_CDS_not_defined - 6/8 - - - - - - - rs788971,COSV65799490 - -1 - HGNC HGNC:16932 - - - - - Ensembl - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675747.1 retained_intron - 10/27 - - - - - - - rs788971,COSV65799490 - -1 - HGNC HGNC:16932 - - - - - Ensembl - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript NM_001173484.2 protein_coding - 4/6 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377322.1 protein_coding - 4/7 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377323.1 protein_coding - 4/6 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377324.1 protein_coding - 4/6 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377325.1 protein_coding - 4/6 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377326.1 protein_coding - 4/6 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377327.1 protein_coding - 6/8 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript NM_001377328.1 protein_coding - 4/6 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript NM_006393.3 protein_coding - 2/27 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 ENST00000377122.9 - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript NM_213569.2 protein_coding - 4/6 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A OK - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript XM_005252342.6 protein_coding - 2/26 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript XM_005252343.6 protein_coding - 2/25 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript XM_011519291.3 protein_coding - 4/29 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript XM_047424443.1 protein_coding - 5/30 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant MODIFIER NEBL 10529 Transcript XM_047424444.1 protein_coding - 4/8 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant,non_coding_transcript_variant MODIFIER NEBL 10529 Transcript XR_001746995.3 misc_RNA - 2/22 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C intron_variant,non_coding_transcript_variant MODIFIER NEBL 10529 Transcript XR_242691.6 misc_RNA - 2/20 - - - - - - - rs788971,COSV65799490 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - A A - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:20896892-20896892 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001177287 promoter - - - - - - - - - rs788971,COSV65799490 - - - - - - - - - - - - - - - - - 0.9235 benign 0,1 1,1 - - - - - - . 10:21029470-21029470 G non_coding_transcript_exon_variant MODIFIER EIF4BP2 ENSG00000228753 Transcript ENST00000416702.1 processed_pseudogene 1/1 - - - 472 - - - - - - 1 - HGNC HGNC:37935 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000417816.2 protein_coding - 2/6 - - - - - - - - - -1 - HGNC HGNC:16932 - - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675114.1 protein_coding_CDS_not_defined - 4/8 - - - - - - - - - -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675700.1 protein_coding_CDS_not_defined - 2/6 - - - - - - - - - -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675702.1 protein_coding_CDS_not_defined - 4/8 - - - - - - - - - -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675747.1 retained_intron - 2/27 - - - - - - - - - -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000676018.1 protein_coding_CDS_not_defined - 1/1 - - - - - - - - - -1 - HGNC HGNC:16932 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant MODIFIER NEBL 10529 Transcript NM_001173484.2 protein_coding - 2/6 - - - - - - - - - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant MODIFIER NEBL 10529 Transcript NM_001377322.1 protein_coding - 2/7 - - - - - - - - - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant MODIFIER NEBL 10529 Transcript NM_001377323.1 protein_coding - 2/6 - - - - - - - - - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant MODIFIER NEBL 10529 Transcript NM_001377324.1 protein_coding - 2/6 - - - - - - - - - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant MODIFIER NEBL 10529 Transcript NM_001377325.1 protein_coding - 2/6 - - - - - - - - - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant MODIFIER NEBL 10529 Transcript NM_001377326.1 protein_coding - 2/6 - - - - - - - - - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant MODIFIER NEBL 10529 Transcript NM_001377327.1 protein_coding - 4/8 - - - - - - - - - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant MODIFIER NEBL 10529 Transcript NM_001377328.1 protein_coding - 2/6 - - - - - - - - - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant MODIFIER NEBL 10529 Transcript NM_213569.2 protein_coding - 2/6 - - - - - - - - - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:21029470-21029470 G intron_variant MODIFIER NEBL 10529 Transcript XM_047424444.1 protein_coding - 2/8 - - - - - - - - - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:21029505-21029505 T non_coding_transcript_exon_variant MODIFIER EIF4BP2 ENSG00000228753 Transcript ENST00000416702.1 processed_pseudogene 1/1 - - - 507 - - - - rs754311599 - 1 - HGNC HGNC:37935 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000417816.2 protein_coding - 2/6 - - - - - - - rs754311599 - -1 - HGNC HGNC:16932 - - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675114.1 protein_coding_CDS_not_defined - 4/8 - - - - - - - rs754311599 - -1 - HGNC HGNC:16932 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675700.1 protein_coding_CDS_not_defined - 2/6 - - - - - - - rs754311599 - -1 - HGNC HGNC:16932 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675702.1 protein_coding_CDS_not_defined - 4/8 - - - - - - - rs754311599 - -1 - HGNC HGNC:16932 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000675747.1 retained_intron - 2/27 - - - - - - - rs754311599 - -1 - HGNC HGNC:16932 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant,non_coding_transcript_variant MODIFIER NEBL ENSG00000078114 Transcript ENST00000676018.1 protein_coding_CDS_not_defined - 1/1 - - - - - - - rs754311599 - -1 - HGNC HGNC:16932 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant MODIFIER NEBL 10529 Transcript NM_001173484.2 protein_coding - 2/6 - - - - - - - rs754311599 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant MODIFIER NEBL 10529 Transcript NM_001377322.1 protein_coding - 2/7 - - - - - - - rs754311599 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant MODIFIER NEBL 10529 Transcript NM_001377323.1 protein_coding - 2/6 - - - - - - - rs754311599 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant MODIFIER NEBL 10529 Transcript NM_001377324.1 protein_coding - 2/6 - - - - - - - rs754311599 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant MODIFIER NEBL 10529 Transcript NM_001377325.1 protein_coding - 2/6 - - - - - - - rs754311599 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant MODIFIER NEBL 10529 Transcript NM_001377326.1 protein_coding - 2/6 - - - - - - - rs754311599 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant MODIFIER NEBL 10529 Transcript NM_001377327.1 protein_coding - 4/8 - - - - - - - rs754311599 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant MODIFIER NEBL 10529 Transcript NM_001377328.1 protein_coding - 2/6 - - - - - - - rs754311599 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant MODIFIER NEBL 10529 Transcript NM_213569.2 protein_coding - 2/6 - - - - - - - rs754311599 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:21029505-21029505 T intron_variant MODIFIER NEBL 10529 Transcript XM_047424444.1 protein_coding - 2/8 - - - - - - - rs754311599 - -1 - EntrezGene HGNC:16932 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:22607850-22607850 T intron_variant MODIFIER PIP4K2A ENSG00000150867 Transcript ENST00000376573.9 protein_coding - 3/9 - - - - - - - rs2765997 - -1 - HGNC HGNC:8997 NM_005028.5 - 1 P1 - Ensembl - C C - - - 0.7694 - - - 35743641 - - - - - . 10:22607850-22607850 T intron_variant,non_coding_transcript_variant MODIFIER PIP4K2A ENSG00000150867 Transcript ENST00000422321.5 protein_coding_CDS_not_defined - 2/5 - - - - - - - rs2765997 - -1 - HGNC HGNC:8997 - - 3 - - Ensembl - C C - - - 0.7694 - - - 35743641 - - - - - . 10:22607850-22607850 T non_coding_transcript_exon_variant MODIFIER PIP4K2A ENSG00000150867 Transcript ENST00000432610.1 protein_coding_CDS_not_defined 2/2 - - - 272 - - - - rs2765997 - -1 - HGNC HGNC:8997 - - 2 - - Ensembl - C C - - - 0.7694 - - - 35743641 - - - - - . 10:22607850-22607850 T intron_variant MODIFIER PIP4K2A ENSG00000150867 Transcript ENST00000545335.5 protein_coding - 3/9 - - - - - - - rs2765997 - -1 - HGNC HGNC:8997 - - 2 - - Ensembl - C C - - - 0.7694 - - - 35743641 - - - - - . 10:22607850-22607850 T intron_variant MODIFIER PIP4K2A 5305 Transcript NM_001330062.2 protein_coding - 3/9 - - - - - - - rs2765997 - -1 - EntrezGene HGNC:8997 - - - - - RefSeq - C C - - - 0.7694 - - - 35743641 - - - - - . 10:22607850-22607850 T intron_variant MODIFIER PIP4K2A 5305 Transcript NM_005028.5 protein_coding - 3/9 - - - - - - - rs2765997 - -1 - EntrezGene HGNC:8997 ENST00000376573.9 - - - - RefSeq - C C - - - 0.7694 - - - 35743641 - - - - - . 10:22607850-22607850 T intron_variant MODIFIER PIP4K2A 5305 Transcript XM_006717450.3 protein_coding - 3/8 - - - - - - - rs2765997 - -1 - EntrezGene HGNC:8997 - - - - - RefSeq - C C - - - 0.7694 - - - 35743641 - - - - - . 10:22607850-22607850 T intron_variant MODIFIER PIP4K2A 5305 Transcript XM_017016330.2 protein_coding - 3/9 - - - - - - - rs2765997 - -1 - EntrezGene HGNC:8997 - - - - - RefSeq - C C - - - 0.7694 - - - 35743641 - - - - - . 10:22607850-22607850 T intron_variant MODIFIER PIP4K2A 5305 Transcript XM_017016331.2 protein_coding - 3/9 - - - - - - - rs2765997 - -1 - EntrezGene HGNC:8997 - - - - - RefSeq - C C - - - 0.7694 - - - 35743641 - - - - - . 10:22607850-22607850 T intron_variant MODIFIER PIP4K2A 5305 Transcript XM_047425351.1 protein_coding - 3/9 - - - - - - - rs2765997 - -1 - EntrezGene HGNC:8997 - - - - - RefSeq - C C - - - 0.7694 - - - 35743641 - - - - - . 10:23104162-23104162 G missense_variant MODERATE MSRB2 ENSG00000148450 Transcript ENST00000376510.8 protein_coding 2/5 - - - 167 137 46 E/G gAg/gGg rs2296466,COSV64737128 - 1 - HGNC HGNC:17061 NM_012228.4 - 1 P1 - Ensembl - A A - tolerated(0.15) - 0.0326 - 0,1 0,1 35806091 - - - - - . 10:23104162-23104162 G missense_variant,NMD_transcript_variant MODERATE MSRB2 ENSG00000148450 Transcript ENST00000472663.1 nonsense_mediated_decay 1/5 - - - 19 20 7 E/G gAg/gGg rs2296466,COSV64737128 - 1 cds_start_NF HGNC HGNC:17061 - - 5 - - Ensembl - A A - deleterious_low_confidence(0.01) possibly_damaging(0.594) 0.0326 - 0,1 0,1 35806091 - - - - - . 10:23104162-23104162 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000286924 Transcript ENST00000655462.1 lncRNA - 1/1 - - - - - - - rs2296466,COSV64737128 - -1 - - - - - - - - Ensembl - A A - - - 0.0326 - 0,1 0,1 35806091 - - - - - . 10:23104162-23104162 G missense_variant MODERATE MSRB2 22921 Transcript NM_012228.4 protein_coding 2/5 - - - 167 137 46 E/G gAg/gGg rs2296466,COSV64737128 - 1 - EntrezGene HGNC:17061 ENST00000376510.8 - - - - RefSeq - A A - tolerated(0.15) - 0.0326 - 0,1 0,1 35806091 - - - - - . 10:23104162-23104162 G missense_variant MODERATE MSRB2 22921 Transcript XM_011519426.3 protein_coding 2/4 - - - 167 137 46 E/G gAg/gGg rs2296466,COSV64737128 - 1 - EntrezGene HGNC:17061 - - - - - RefSeq - A A - - - 0.0326 - 0,1 0,1 35806091 - - - - - . 10:23119349-23119349 T synonymous_variant LOW MSRB2 ENSG00000148450 Transcript ENST00000376510.8 protein_coding 4/5 - - - 372 342 114 S tcC/tcT rs7427 - 1 - HGNC HGNC:17061 NM_012228.4 - 1 P1 - Ensembl - C C - - - 0.2256 - - - 17601350,20546594 - - - - - . 10:23119349-23119349 T non_coding_transcript_exon_variant MODIFIER MSRB2 ENSG00000148450 Transcript ENST00000468633.1 protein_coding_CDS_not_defined 1/2 - - - 206 - - - - rs7427 - 1 - HGNC HGNC:17061 - - 2 - - Ensembl - C C - - - 0.2256 - - - 17601350,20546594 - - - - - . 10:23119349-23119349 T missense_variant,NMD_transcript_variant MODERATE MSRB2 ENSG00000148450 Transcript ENST00000472663.1 nonsense_mediated_decay 4/5 - - - 313 314 105 P/L cCg/cTg rs7427 - 1 cds_start_NF HGNC HGNC:17061 - - 5 - - Ensembl - C C - deleterious_low_confidence(0.04) benign(0.003) 0.2256 - - - 17601350,20546594 - - - - - . 10:23119349-23119349 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000286924 Transcript ENST00000655462.1 lncRNA - 1/1 - - - - - - - rs7427 - -1 - - - - - - - - Ensembl - C C - - - 0.2256 - - - 17601350,20546594 - - - - - . 10:23119349-23119349 T synonymous_variant LOW MSRB2 22921 Transcript NM_012228.4 protein_coding 4/5 - - - 372 342 114 S tcC/tcT rs7427 - 1 - EntrezGene HGNC:17061 ENST00000376510.8 - - - - RefSeq - C C - - - 0.2256 - - - 17601350,20546594 - - - - - . 10:23119349-23119349 T 3_prime_UTR_variant MODIFIER MSRB2 22921 Transcript XM_011519426.3 protein_coding 4/4 - - - 630 - - - - rs7427 - 1 - EntrezGene HGNC:17061 - - - - - RefSeq - C C - - - 0.2256 - - - 17601350,20546594 - - - - - . 10:23137043-23137043 G non_coding_transcript_exon_variant MODIFIER YWHAZP3 ENSG00000229932 Transcript ENST00000415292.1 processed_pseudogene 1/1 - - - 120 - - - - - - 1 - HGNC HGNC:31101 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:23137043-23137043 G upstream_gene_variant MODIFIER - ENSG00000286924 Transcript ENST00000655462.1 lncRNA - - - - - - - - - - 3239 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:23137052-23137052 T non_coding_transcript_exon_variant MODIFIER YWHAZP3 ENSG00000229932 Transcript ENST00000415292.1 processed_pseudogene 1/1 - - - 129 - - - - rs940388752 - 1 - HGNC HGNC:31101 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:23137052-23137052 T upstream_gene_variant MODIFIER - ENSG00000286924 Transcript ENST00000655462.1 lncRNA - - - - - - - - - rs940388752 3248 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:23137087-23137087 G non_coding_transcript_exon_variant MODIFIER YWHAZP3 ENSG00000229932 Transcript ENST00000415292.1 processed_pseudogene 1/1 - - - 164 - - - - - - 1 - HGNC HGNC:31101 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:23137087-23137087 G upstream_gene_variant MODIFIER - ENSG00000286924 Transcript ENST00000655462.1 lncRNA - - - - - - - - - - 3283 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:23137163-23137163 A non_coding_transcript_exon_variant MODIFIER YWHAZP3 ENSG00000229932 Transcript ENST00000415292.1 processed_pseudogene 1/1 - - - 240 - - - - rs878913634 - 1 - HGNC HGNC:31101 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:23137163-23137163 A upstream_gene_variant MODIFIER - ENSG00000286924 Transcript ENST00000655462.1 lncRNA - - - - - - - - - rs878913634 3359 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:23137367-23137367 A non_coding_transcript_exon_variant MODIFIER YWHAZP3 ENSG00000229932 Transcript ENST00000415292.1 processed_pseudogene 1/1 - - - 444 - - - - rs879125915 - 1 - HGNC HGNC:31101 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:23137367-23137367 A upstream_gene_variant MODIFIER - ENSG00000286924 Transcript ENST00000655462.1 lncRNA - - - - - - - - - rs879125915 3563 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:23137426-23137426 C non_coding_transcript_exon_variant MODIFIER YWHAZP3 ENSG00000229932 Transcript ENST00000415292.1 processed_pseudogene 1/1 - - - 503 - - - - - - 1 - HGNC HGNC:31101 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:23137426-23137426 C upstream_gene_variant MODIFIER - ENSG00000286924 Transcript ENST00000655462.1 lncRNA - - - - - - - - - - 3622 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:23137427-23137427 A non_coding_transcript_exon_variant MODIFIER YWHAZP3 ENSG00000229932 Transcript ENST00000415292.1 processed_pseudogene 1/1 - - - 504 - - - - - - 1 - HGNC HGNC:31101 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:23137427-23137427 A upstream_gene_variant MODIFIER - ENSG00000286924 Transcript ENST00000655462.1 lncRNA - - - - - - - - - - 3623 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:23137543-23137543 T non_coding_transcript_exon_variant MODIFIER YWHAZP3 ENSG00000229932 Transcript ENST00000415292.1 processed_pseudogene 1/1 - - - 620 - - - - - - 1 - HGNC HGNC:31101 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:23137543-23137543 T upstream_gene_variant MODIFIER - ENSG00000286924 Transcript ENST00000655462.1 lncRNA - - - - - - - - - - 3739 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:23137567-23137567 T non_coding_transcript_exon_variant MODIFIER YWHAZP3 ENSG00000229932 Transcript ENST00000415292.1 processed_pseudogene 1/1 - - - 644 - - - - rs1456391965 - 1 - HGNC HGNC:31101 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:23137567-23137567 T upstream_gene_variant MODIFIER - ENSG00000286924 Transcript ENST00000655462.1 lncRNA - - - - - - - - - rs1456391965 3763 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:23193706-23193706 C missense_variant,splice_region_variant MODERATE PTF1A ENSG00000168267 Transcript ENST00000376504.4 protein_coding 2/2 - - - 1006 787 263 S/P Tcc/Ccc rs7918487,COSV64734830 - 1 - HGNC HGNC:23734 NM_178161.3 - 1 P1 - Ensembl - T T - deleterious(0.04) unknown(0) 0.6244 benign,likely_benign 0,1 1,1 - - - - - - . 10:23193706-23193706 C splice_region_variant,synonymous_variant LOW PTF1A ENSG00000168267 Transcript ENST00000638469.1 protein_coding 2/2 - - - 117 117 39 G ggT/ggC rs7918487,COSV64734830 - 1 cds_start_NF HGNC HGNC:23734 - - 5 - - Ensembl - T T - - - 0.6244 benign,likely_benign 0,1 1,1 - - - - - - . 10:23193706-23193706 C intron_variant MODIFIER PTF1A ENSG00000168267 Transcript ENST00000639082.1 protein_coding - 1/1 - - - - - - - rs7918487,COSV64734830 - 1 cds_start_NF HGNC HGNC:23734 - - 5 - - Ensembl - T T - - - 0.6244 benign,likely_benign 0,1 1,1 - - - - - - . 10:23193706-23193706 C missense_variant,splice_region_variant MODERATE PTF1A ENSG00000168267 Transcript ENST00000639873.1 protein_coding 2/2 - - - 95 95 32 V/A gTc/gCc rs7918487,COSV64734830 - 1 cds_start_NF HGNC HGNC:23734 - - 5 - - Ensembl - T T - - unknown(0) 0.6244 benign,likely_benign 0,1 1,1 - - - - - - . 10:23193706-23193706 C intron_variant MODIFIER PTF1A ENSG00000168267 Transcript ENST00000640579.1 protein_coding - 1/1 - - - - - - - rs7918487,COSV64734830 - 1 cds_start_NF HGNC HGNC:23734 - - 5 - - Ensembl - T T - - - 0.6244 benign,likely_benign 0,1 1,1 - - - - - - . 10:23193706-23193706 C intron_variant MODIFIER PTF1A ENSG00000168267 Transcript ENST00000640697.1 protein_coding - 1/1 - - - - - - - rs7918487,COSV64734830 - 1 cds_start_NF HGNC HGNC:23734 - - 5 - - Ensembl - T T - - - 0.6244 benign,likely_benign 0,1 1,1 - - - - - - . 10:23193706-23193706 C missense_variant,splice_region_variant MODERATE PTF1A 256297 Transcript NM_178161.3 protein_coding 2/2 - - - 1006 787 263 S/P Tcc/Ccc rs7918487,COSV64734830 - 1 - EntrezGene HGNC:23734 ENST00000376504.4 - - - - RefSeq - T T - deleterious(0.04) unknown(0) 0.6244 benign,likely_benign 0,1 1,1 - - - - - - . 10:23193921-23193921 A 3_prime_UTR_variant MODIFIER PTF1A ENSG00000168267 Transcript ENST00000376504.4 protein_coding 2/2 - - - 1221 - - - - rs10828415,COSV64734760 - 1 - HGNC HGNC:23734 NM_178161.3 - 1 P1 - Ensembl - G G - - - 0.2129 benign 0,1 1,1 31640808 - - - - - . 10:23193921-23193921 A 3_prime_UTR_variant MODIFIER PTF1A ENSG00000168267 Transcript ENST00000638469.1 protein_coding 2/2 - - - 332 - - - - rs10828415,COSV64734760 - 1 cds_start_NF HGNC HGNC:23734 - - 5 - - Ensembl - G G - - - 0.2129 benign 0,1 1,1 31640808 - - - - - . 10:23193921-23193921 A 3_prime_UTR_variant MODIFIER PTF1A ENSG00000168267 Transcript ENST00000639082.1 protein_coding 2/2 - - - 214 - - - - rs10828415,COSV64734760 - 1 cds_start_NF HGNC HGNC:23734 - - 5 - - Ensembl - G G - - - 0.2129 benign 0,1 1,1 31640808 - - - - - . 10:23193921-23193921 A 3_prime_UTR_variant MODIFIER PTF1A ENSG00000168267 Transcript ENST00000639873.1 protein_coding 2/2 - - - 310 - - - - rs10828415,COSV64734760 - 1 cds_start_NF HGNC HGNC:23734 - - 5 - - Ensembl - G G - - - 0.2129 benign 0,1 1,1 31640808 - - - - - . 10:23193921-23193921 A 3_prime_UTR_variant MODIFIER PTF1A ENSG00000168267 Transcript ENST00000640579.1 protein_coding 2/2 - - - 243 - - - - rs10828415,COSV64734760 - 1 cds_start_NF HGNC HGNC:23734 - - 5 - - Ensembl - G G - - - 0.2129 benign 0,1 1,1 31640808 - - - - - . 10:23193921-23193921 A 3_prime_UTR_variant MODIFIER PTF1A ENSG00000168267 Transcript ENST00000640697.1 protein_coding 2/2 - - - 233 - - - - rs10828415,COSV64734760 - 1 cds_start_NF HGNC HGNC:23734 - - 5 - - Ensembl - G G - - - 0.2129 benign 0,1 1,1 31640808 - - - - - . 10:23193921-23193921 A 3_prime_UTR_variant MODIFIER PTF1A 256297 Transcript NM_178161.3 protein_coding 2/2 - - - 1221 - - - - rs10828415,COSV64734760 - 1 - EntrezGene HGNC:23734 ENST00000376504.4 - - - - RefSeq - G G - - - 0.2129 benign 0,1 1,1 31640808 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000307544.10 protein_coding 2/14 - - - 641 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - HGNC HGNC:25428 - - 1 - - Ensembl - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000376451.4 protein_coding 2/15 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - HGNC HGNC:25428 - - 1 - - Ensembl - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000376452.7 protein_coding 6/19 - - - 1558 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - HGNC HGNC:25428 - - 1 A2 - Ensembl - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000376454.8 protein_coding 6/21 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - HGNC HGNC:25428 NM_019590.5 - 1 A2 - Ensembl - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000376456.8 protein_coding 6/13 - - - 1558 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 cds_end_NF HGNC HGNC:25428 - - 5 - - Ensembl - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000376462.5 protein_coding 7/19 - - - 1724 915 305 A gcA/gcG rs3748215,COSV56823401 - 1 - HGNC HGNC:25428 - - 1 A2 - Ensembl - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000396445.5 protein_coding 2/13 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - HGNC HGNC:25428 - - 1 - - Ensembl - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000396446.5 protein_coding 2/12 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - HGNC HGNC:25428 - - 1 - - Ensembl - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000430453.6 protein_coding 6/18 - - - 1558 915 305 A gcA/gcG rs3748215,COSV56823401 - 1 - HGNC HGNC:25428 - - 5 A2 - Ensembl - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000438429.5 protein_coding 5/12 - - - 944 705 235 A gcA/gcG rs3748215,COSV56823401 - 1 cds_end_NF HGNC HGNC:25428 - - 5 - - Ensembl - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000458595.5 protein_coding 6/18 - - - 1558 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - HGNC HGNC:25428 - - 1 P2 - Ensembl - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000696626.1 protein_coding 5/20 - - - 2275 918 306 A gcA/gcG rs3748215,COSV56823401 - 1 - HGNC HGNC:25428 - - - A2 - Ensembl - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript NM_001098500.3 protein_coding 7/19 - - - 1743 915 305 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript NM_001282767.2 protein_coding 6/19 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript NM_001282768.2 protein_coding 6/18 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript NM_001282769.2 protein_coding 2/14 - - - 660 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript NM_001282770.2 protein_coding 2/12 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript NM_001321681.2 protein_coding 2/14 - - - 660 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript NM_019590.5 protein_coding 6/21 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 ENST00000376454.8 - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_017016417.2 protein_coding 6/20 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_017016420.2 protein_coding 5/20 - - - 946 705 235 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_017016422.2 protein_coding 5/19 - - - 946 705 235 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_017016423.1 protein_coding 2/17 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_017016424.2 protein_coding 2/17 - - - 660 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425494.1 protein_coding 6/21 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425495.1 protein_coding 6/21 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425496.1 protein_coding 6/20 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425497.1 protein_coding 6/20 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425498.1 protein_coding 6/20 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425499.1 protein_coding 6/19 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425500.1 protein_coding 6/19 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425501.1 protein_coding 5/19 - - - 946 705 235 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425502.1 protein_coding 5/19 - - - 946 705 235 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425503.1 protein_coding 5/19 - - - 946 705 235 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425504.1 protein_coding 6/19 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425505.1 protein_coding 2/17 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425506.1 protein_coding 2/16 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425507.1 protein_coding 2/16 - - - 660 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425508.1 protein_coding 2/16 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425509.1 protein_coding 2/16 - - - 660 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425510.1 protein_coding 2/15 - - - 660 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425511.1 protein_coding 2/15 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425512.1 protein_coding 2/15 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425513.1 protein_coding 6/19 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425514.1 protein_coding 6/19 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425515.1 protein_coding 6/18 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425516.1 protein_coding 6/18 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425517.1 protein_coding 6/18 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425518.1 protein_coding 6/17 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425519.1 protein_coding 6/17 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425520.1 protein_coding 5/18 - - - 946 705 235 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425521.1 protein_coding 5/17 - - - 946 705 235 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425522.1 protein_coding 5/16 - - - 946 705 235 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425523.1 protein_coding 5/16 - - - 946 705 235 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425524.1 protein_coding 6/16 - - - 1211 1155 385 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425525.1 protein_coding 2/15 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425526.1 protein_coding 2/15 - - - 660 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425527.1 protein_coding 2/15 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425528.1 protein_coding 2/15 - - - 660 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425529.1 protein_coding 2/14 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425530.1 protein_coding 2/14 - - - 660 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425531.1 protein_coding 2/14 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425532.1 protein_coding 2/14 - - - 660 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425533.1 protein_coding 2/14 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425534.1 protein_coding 2/13 - - - 569 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24473536-24473536 G synonymous_variant LOW KIAA1217 56243 Transcript XM_047425535.1 protein_coding 2/13 - - - 660 309 103 A gcA/gcG rs3748215,COSV56823401 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - A A - - - 0.0749 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 ENSG00000120549 Transcript ENST00000307544.10 protein_coding - 13/13 - - - - - - - rs3748218,COSV56824991 - 1 - HGNC HGNC:25428 - - 1 - - Ensembl - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000376451.4 protein_coding 14/15 - - - 3995 3735 1245 T acC/acT rs3748218,COSV56824991 - 1 - HGNC HGNC:25428 - - 1 - - Ensembl - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 ENSG00000120549 Transcript ENST00000376452.7 protein_coding - 17/18 - - - - - - - rs3748218,COSV56824991 - 1 - HGNC HGNC:25428 - - 1 A2 - Ensembl - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000376454.8 protein_coding 19/21 - - - 4742 4686 1562 T acC/acT rs3748218,COSV56824991 - 1 - HGNC HGNC:25428 NM_019590.5 - 1 A2 - Ensembl - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 ENSG00000120549 Transcript ENST00000376462.5 protein_coding - 17/18 - - - - - - - rs3748218,COSV56824991 - 1 - HGNC HGNC:25428 - - 1 A2 - Ensembl - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 ENSG00000120549 Transcript ENST00000396445.5 protein_coding - 12/12 - - - - - - - rs3748218,COSV56824991 - 1 - HGNC HGNC:25428 - - 1 - - Ensembl - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 ENSG00000120549 Transcript ENST00000396446.5 protein_coding - 11/11 - - - - - - - rs3748218,COSV56824991 - 1 - HGNC HGNC:25428 - - 1 - - Ensembl - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 ENSG00000120549 Transcript ENST00000430453.6 protein_coding - 16/17 - - - - - - - rs3748218,COSV56824991 - 1 - HGNC HGNC:25428 - - 5 A2 - Ensembl - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 ENSG00000120549 Transcript ENST00000458595.5 protein_coding - 16/17 - - - - - - - rs3748218,COSV56824991 - 1 - HGNC HGNC:25428 - - 1 P2 - Ensembl - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T downstream_gene_variant MODIFIER KIAA1217 ENSG00000120549 Transcript ENST00000492009.1 retained_intron - - - - - - - - - rs3748218,COSV56824991 248 1 - HGNC HGNC:25428 - - 1 - - Ensembl - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000635163.1 protein_coding 5/5 - - - 1334 1335 445 T acC/acT rs3748218,COSV56824991 - 1 cds_start_NF,cds_end_NF HGNC HGNC:25428 - - 5 - - Ensembl - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 ENSG00000120549 Transcript ENST00000696626.1 protein_coding 18/20 - - - 5806 4449 1483 T acC/acT rs3748218,COSV56824991 - 1 - HGNC HGNC:25428 - - - A2 - Ensembl - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript NM_001098500.3 protein_coding - 17/18 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript NM_001282767.2 protein_coding - 17/18 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript NM_001282768.2 protein_coding - 16/17 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript NM_001282769.2 protein_coding - 13/13 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript NM_001282770.2 protein_coding - 11/11 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript NM_001321681.2 protein_coding - 12/13 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript NM_019590.5 protein_coding 19/21 - - - 4742 4686 1562 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 ENST00000376454.8 - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_017016417.2 protein_coding 18/20 - - - 4637 4581 1527 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_017016420.2 protein_coding 18/20 - - - 4477 4236 1412 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_017016422.2 protein_coding 17/19 - - - 4372 4131 1377 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_017016423.1 protein_coding 15/17 - - - 4100 3840 1280 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_017016424.2 protein_coding 15/17 - - - 4191 3840 1280 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425494.1 protein_coding 19/21 - - - 4739 4683 1561 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425495.1 protein_coding 19/21 - - - 4709 4653 1551 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425496.1 protein_coding 18/20 - - - 4634 4578 1526 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425497.1 protein_coding 18/20 - - - 4622 4566 1522 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425498.1 protein_coding 18/20 - - - 4604 4548 1516 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425499.1 protein_coding 17/19 - - - 4517 4461 1487 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425500.1 protein_coding 17/19 - - - 4514 4458 1486 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425501.1 protein_coding 17/19 - - - 4369 4128 1376 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425502.1 protein_coding 17/19 - - - 4357 4116 1372 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425503.1 protein_coding 17/19 - - - 4339 4098 1366 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425504.1 protein_coding 18/19 - - - 4619 4563 1521 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425505.1 protein_coding 15/17 - - - 4097 3837 1279 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425506.1 protein_coding 14/16 - - - 3995 3735 1245 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425507.1 protein_coding 14/16 - - - 4086 3735 1245 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425508.1 protein_coding 14/16 - - - 3992 3732 1244 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425509.1 protein_coding 14/16 - - - 4083 3732 1244 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425510.1 protein_coding 13/15 - - - 3966 3615 1205 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425511.1 protein_coding 13/15 - - - 3875 3615 1205 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T synonymous_variant LOW KIAA1217 56243 Transcript XM_047425512.1 protein_coding 14/15 - - - 3980 3720 1240 T acC/acT rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425513.1 protein_coding - 17/18 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425514.1 protein_coding - 17/18 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425515.1 protein_coding - 16/17 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425516.1 protein_coding - 16/17 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425517.1 protein_coding - 16/17 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425518.1 protein_coding - 15/16 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425519.1 protein_coding - 15/16 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425520.1 protein_coding - 16/17 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425521.1 protein_coding - 15/16 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425522.1 protein_coding - 14/15 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425523.1 protein_coding - 14/15 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425524.1 protein_coding - 15/15 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425525.1 protein_coding - 13/14 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425526.1 protein_coding - 13/14 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425527.1 protein_coding - 13/14 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425528.1 protein_coding - 13/14 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425529.1 protein_coding - 12/13 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425530.1 protein_coding - 12/13 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425531.1 protein_coding - 12/13 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425532.1 protein_coding - 12/13 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425533.1 protein_coding - 12/13 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425534.1 protein_coding - 11/12 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24543956-24543956 T intron_variant MODIFIER KIAA1217 56243 Transcript XM_047425535.1 protein_coding - 11/12 - - - - - - - rs3748218,COSV56824991 - 1 - EntrezGene HGNC:25428 - - - - - RefSeq - C C - - - 0.2790 - 0,1 0,1 19338451 - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 6276 5819 1940 S/N aGt/aAt rs1127893,COSV57609816 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - tolerated_low_confidence(0.38) benign(0) 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 6555 5849 1950 S/N aGt/aAt rs1127893,COSV57609816 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - tolerated_low_confidence(0.38) benign(0) 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs1127893,COSV57609816 1593 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs1127893,COSV57609816 1480 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 6020 - - - - rs1127893,COSV57609816 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 4683 4193 1398 S/N aGt/aAt rs1127893,COSV57609816 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - tolerated(0.26) unknown(0) 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs1127893,COSV57609816 1490 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 3225 - - - - rs1127893,COSV57609816 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 5905 5870 1957 S/N aGt/aAt rs1127893,COSV57609816 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - tolerated_low_confidence(0.38) benign(0) 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs1127893,COSV57609816 3525 -1 - - - - - - - - Ensembl - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 6525 5819 1940 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.38) benign(0) 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 6294 5849 1950 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.38) benign(0) 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 6340 5555 1852 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.38) - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 6665 5555 1852 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.38) - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 6264 5819 1940 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.38) benign(0) 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 6013 5378 1793 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.4) benign(0) 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 6462 5819 1940 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.38) benign(0) 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 6438 5849 1950 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.38) benign(0) 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 5435 5210 1737 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.47) - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 6555 5849 1950 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - tolerated_low_confidence(0.38) benign(0) 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 6568 - - - - rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 6685 - - - - rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 6766 - - - - rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 5709 - - - - rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 5787 - - - - rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 6657 5951 1984 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 6594 5951 1984 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 6396 5951 1984 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 6627 5921 1974 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 8063 5747 1916 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 6551 - - - - rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 6564 5921 1974 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 6366 5921 1974 S/N aGt/aAt rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 6449 - - - - rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 6419 - - - - rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584440-24584440 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 6158 - - - - rs1127893,COSV57609816 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0010 - 0,1 1,1 - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 6259 5802 1934 L ctG/ctA - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 6538 5832 1944 L ctG/ctA - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - - - - - - - - - - - - - . 10:24584457-24584457 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - - 1576 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:24584457-24584457 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - - 1463 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:24584457-24584457 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 6003 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 4666 4176 1392 L ctG/ctA - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:24584457-24584457 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - - 1473 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24584457-24584457 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 3208 - - - - - - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 5888 5853 1951 L ctG/ctA - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - - - - - - - - - - - - - . 10:24584457-24584457 T upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - - 3542 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 6508 5802 1934 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 6277 5832 1944 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 6323 5538 1846 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 6648 5538 1846 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 6247 5802 1934 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 5996 5361 1787 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 6445 5802 1934 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 6421 5832 1944 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 5418 5193 1731 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 6538 5832 1944 L ctG/ctA - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 6551 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 6668 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 6749 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 5692 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 5770 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 6640 5934 1978 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 6577 5934 1978 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 6379 5934 1978 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 6610 5904 1968 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 8046 5730 1910 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 6534 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 6547 5904 1968 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 6349 5904 1968 L ctG/ctA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 6432 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 6402 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584457-24584457 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 6141 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 6193 5736 1912 N aaC/aaT rs563418963,COSV57604986 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 6472 5766 1922 N aaC/aaT rs563418963,COSV57604986 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs563418963,COSV57604986 1510 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs563418963,COSV57604986 1397 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 5937 - - - - rs563418963,COSV57604986 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 4600 4110 1370 N aaC/aaT rs563418963,COSV57604986 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs563418963,COSV57604986 1407 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 3142 - - - - rs563418963,COSV57604986 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 5822 5787 1929 N aaC/aaT rs563418963,COSV57604986 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs563418963,COSV57604986 3608 -1 - - - - - - - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 6442 5736 1912 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 6211 5766 1922 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 6257 5472 1824 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 6582 5472 1824 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 6181 5736 1912 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 5930 5295 1765 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 6379 5736 1912 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 6355 5766 1922 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 5352 5127 1709 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 6472 5766 1922 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 6485 - - - - rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 6602 - - - - rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 6683 - - - - rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 5626 - - - - rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 5704 - - - - rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 6574 5868 1956 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 6511 5868 1956 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 6313 5868 1956 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 6544 5838 1946 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 7980 5664 1888 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 6468 - - - - rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 6481 5838 1946 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 6283 5838 1946 N aaC/aaT rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 6366 - - - - rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 6336 - - - - rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584523-24584523 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 6075 - - - - rs563418963,COSV57604986 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 6132 5675 1892 T/I aCc/aTc - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - deleterious_low_confidence(0.05) benign(0.005) - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 6411 5705 1902 T/I aCc/aTc - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - deleterious_low_confidence(0.05) benign(0.005) - - - - - - - - - - . 10:24584584-24584584 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - - 1449 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:24584584-24584584 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - - 1336 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:24584584-24584584 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 5876 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 4539 4049 1350 T/I aCc/aTc - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - deleterious_low_confidence(0.04) unknown(0) - - - - - - - - - - . 10:24584584-24584584 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - - 1346 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24584584-24584584 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 3081 - - - - - - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 5761 5726 1909 T/I aCc/aTc - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - deleterious_low_confidence(0.05) benign(0.005) - - - - - - - - - - . 10:24584584-24584584 A upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - - 3669 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 6381 5675 1892 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.05) benign(0.005) - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 6150 5705 1902 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.05) benign(0.005) - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 6196 5411 1804 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.05) - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 6521 5411 1804 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.05) - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 6120 5675 1892 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.05) benign(0.005) - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 5869 5234 1745 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.05) benign(0.005) - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 6318 5675 1892 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.05) benign(0.005) - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 6294 5705 1902 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.05) benign(0.005) - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 5291 5066 1689 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.05) - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 6411 5705 1902 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - deleterious_low_confidence(0.05) benign(0.005) - - - - - - - - - - . 10:24584584-24584584 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 6424 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 6541 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 6622 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 5565 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 5643 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 6513 5807 1936 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 6450 5807 1936 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 6252 5807 1936 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 6483 5777 1926 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 7919 5603 1868 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 6407 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 6420 5777 1926 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 6222 5777 1926 T/I aCc/aTc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 6305 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 6275 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584584-24584584 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 6014 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 6111 5654 1885 N/T aAc/aCc COSV100256828 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - T T - tolerated_low_confidence(0.05) benign(0) - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 6390 5684 1895 N/T aAc/aCc COSV100256828 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - T T - tolerated_low_confidence(0.05) benign(0) - - 1 1 - - - - - - . 10:24584605-24584605 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - COSV100256828 1428 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - COSV100256828 1315 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 5855 - - - - COSV100256828 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 4518 4028 1343 N/T aAc/aCc COSV100256828 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - T T - tolerated_low_confidence(0.05) unknown(0) - - 1 1 - - - - - - . 10:24584605-24584605 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - COSV100256828 1325 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 3060 - - - - COSV100256828 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 5740 5705 1902 N/T aAc/aCc COSV100256828 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - T T - tolerated_low_confidence(0.05) benign(0) - - 1 1 - - - - - - . 10:24584605-24584605 G upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - COSV100256828 3690 -1 - - - - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 6360 5654 1885 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.05) benign(0) - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 6129 5684 1895 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.05) benign(0) - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 6175 5390 1797 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.06) - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 6500 5390 1797 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.06) - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 6099 5654 1885 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.05) benign(0) - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 5848 5213 1738 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.07) benign(0) - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 6297 5654 1885 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.05) benign(0) - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 6273 5684 1895 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.05) benign(0) - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 5270 5045 1682 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.07) - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 6390 5684 1895 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - T T - tolerated_low_confidence(0.05) benign(0) - - 1 1 - - - - - - . 10:24584605-24584605 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 6403 - - - - COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 6520 - - - - COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 6601 - - - - COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 5544 - - - - COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 5622 - - - - COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 6492 5786 1929 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 6429 5786 1929 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 6231 5786 1929 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 6462 5756 1919 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 7898 5582 1861 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 6386 - - - - COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 6399 5756 1919 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 6201 5756 1919 N/T aAc/aCc COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 6284 - - - - COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 6254 - - - - COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584605-24584605 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 5993 - - - - COSV100256828 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 6110 5653 1885 N/H Aac/Cac - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - T T - tolerated_low_confidence(0.08) benign(0) - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 6389 5683 1895 N/H Aac/Cac - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - T T - tolerated_low_confidence(0.08) benign(0) - - - - - - - - - - . 10:24584606-24584606 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - - 1427 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:24584606-24584606 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - - 1314 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:24584606-24584606 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 5854 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 4517 4027 1343 N/H Aac/Cac - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - T T - tolerated_low_confidence(0.1) unknown(0) - - - - - - - - - - . 10:24584606-24584606 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - - 1324 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:24584606-24584606 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 3059 - - - - - - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 5739 5704 1902 N/H Aac/Cac - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - T T - tolerated_low_confidence(0.08) benign(0) - - - - - - - - - - . 10:24584606-24584606 G upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - - 3691 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 6359 5653 1885 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.08) benign(0) - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 6128 5683 1895 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.08) benign(0) - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 6174 5389 1797 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.08) - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 6499 5389 1797 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.08) - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 6098 5653 1885 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.08) benign(0) - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 5847 5212 1738 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.09) benign(0) - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 6296 5653 1885 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.08) benign(0) - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 6272 5683 1895 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.08) benign(0) - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 5269 5044 1682 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.09) - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 6389 5683 1895 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - T T - tolerated_low_confidence(0.08) benign(0) - - - - - - - - - - . 10:24584606-24584606 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 6402 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 6519 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 6600 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 5543 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 5621 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 6491 5785 1929 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 6428 5785 1929 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 6230 5785 1929 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 6461 5755 1919 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 7897 5581 1861 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 6385 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 6398 5755 1919 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 6200 5755 1919 N/H Aac/Cac - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 6283 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 6253 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584606-24584606 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 5992 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 6058 5601 1867 N/K aaC/aaG rs267602450,COSV57603790 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - tolerated_low_confidence(0.23) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 6337 5631 1877 N/K aaC/aaG rs267602450,COSV57603790 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - tolerated_low_confidence(0.23) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs267602450,COSV57603790 1375 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs267602450,COSV57603790 1262 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 5802 - - - - rs267602450,COSV57603790 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 4465 3975 1325 N/K aaC/aaG rs267602450,COSV57603790 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - tolerated_low_confidence(0.17) unknown(0) - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs267602450,COSV57603790 1272 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 3007 - - - - rs267602450,COSV57603790 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 5687 5652 1884 N/K aaC/aaG rs267602450,COSV57603790 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - tolerated_low_confidence(0.23) benign(0) - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs267602450,COSV57603790 3743 -1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 6307 5601 1867 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.23) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 6076 5631 1877 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.23) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 6122 5337 1779 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.22) - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 6447 5337 1779 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.22) - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 6046 5601 1867 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.23) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 5795 5160 1720 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.22) benign(0) - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 6244 5601 1867 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.23) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 6220 5631 1877 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.23) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 5217 4992 1664 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.23) - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 6337 5631 1877 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - tolerated_low_confidence(0.23) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 6350 - - - - rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 6467 - - - - rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 6548 - - - - rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 5491 - - - - rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 5569 - - - - rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 6439 5733 1911 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 6376 5733 1911 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 6178 5733 1911 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 6409 5703 1901 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 7845 5529 1843 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 6333 - - - - rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 6346 5703 1901 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 6148 5703 1901 N/K aaC/aaG rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 6231 - - - - rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 6201 - - - - rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584658-24584658 C 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 5940 - - - - rs267602450,COSV57603790 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 5860 5403 1801 T acC/acT rs12767403 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 6139 5433 1811 T acC/acT rs12767403 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - - - - - - - - - - - - - . 10:24584856-24584856 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs12767403 1177 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:24584856-24584856 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs12767403 1064 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:24584856-24584856 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 5604 - - - - rs12767403 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 4267 3777 1259 T acC/acT rs12767403 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:24584856-24584856 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs12767403 1074 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24584856-24584856 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 2809 - - - - rs12767403 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 5489 5454 1818 T acC/acT rs12767403 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - - - - - - - - - - - - - . 10:24584856-24584856 A upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs12767403 3941 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 6109 5403 1801 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 5878 5433 1811 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 5924 5139 1713 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 6249 5139 1713 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 5848 5403 1801 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 5597 4962 1654 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 6046 5403 1801 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 6022 5433 1811 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 5019 4794 1598 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 6139 5433 1811 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 6152 - - - - rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 6269 - - - - rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 6350 - - - - rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 5293 - - - - rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 5371 - - - - rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 6241 5535 1845 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 6178 5535 1845 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5980 5535 1845 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 6211 5505 1835 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 7647 5331 1777 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 6135 - - - - rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 6148 5505 1835 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5950 5505 1835 T acC/acT rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 6033 - - - - rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 6003 - - - - rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584856-24584856 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 5742 - - - - rs12767403 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 5721 5264 1755 I/T aTa/aCa - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - A A - deleterious_low_confidence(0.02) possibly_damaging(0.54) - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 6000 5294 1765 I/T aTa/aCa - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - A A - deleterious_low_confidence(0.02) possibly_damaging(0.54) - - - - - - - - - - . 10:24584995-24584995 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - - 1038 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:24584995-24584995 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - - 925 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:24584995-24584995 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 5465 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 4128 3638 1213 I/T aTa/aCa - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - A A - deleterious(0.02) unknown(0) - - - - - - - - - - . 10:24584995-24584995 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - - 935 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24584995-24584995 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 2670 - - - - - - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 5350 5315 1772 I/T aTa/aCa - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - A A - deleterious_low_confidence(0.02) possibly_damaging(0.784) - - - - - - - - - - . 10:24584995-24584995 G upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - - 4080 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5970 5264 1755 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) possibly_damaging(0.54) - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 5739 5294 1765 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) possibly_damaging(0.54) - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 5785 5000 1667 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 6110 5000 1667 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 5709 5264 1755 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) possibly_damaging(0.54) - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 5458 4823 1608 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.01) possibly_damaging(0.854) - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5907 5264 1755 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) possibly_damaging(0.54) - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5883 5294 1765 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) possibly_damaging(0.54) - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4880 4655 1552 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 6000 5294 1765 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - A A - deleterious_low_confidence(0.02) possibly_damaging(0.54) - - - - - - - - - - . 10:24584995-24584995 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 6013 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 6130 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 6211 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 5154 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 5232 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 6102 5396 1799 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 6039 5396 1799 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5841 5396 1799 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 6072 5366 1789 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 7508 5192 1731 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5996 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 6009 5366 1789 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5811 5366 1789 I/T aTa/aCa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5894 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5864 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24584995-24584995 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 5603 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 5614 5157 1719 S tcG/tcA rs1143076 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 5893 5187 1729 S tcG/tcA rs1143076 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - - - - - - - - - - - - - . 10:24585102-24585102 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs1143076 931 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585102-24585102 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs1143076 818 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585102-24585102 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 5358 - - - - rs1143076 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 4021 3531 1177 S tcG/tcA rs1143076 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585102-24585102 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs1143076 828 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585102-24585102 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 2563 - - - - rs1143076 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 5243 5208 1736 S tcG/tcA rs1143076 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - - - - - - - - - - - - - . 10:24585102-24585102 T upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs1143076 4187 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5863 5157 1719 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 5632 5187 1729 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 5678 4893 1631 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 6003 4893 1631 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 5602 5157 1719 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 5351 4716 1572 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5800 5157 1719 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5776 5187 1729 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4773 4548 1516 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 5893 5187 1729 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 5906 - - - - rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 6023 - - - - rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 6104 - - - - rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 5047 - - - - rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 5125 - - - - rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5995 5289 1763 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5932 5289 1763 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5734 5289 1763 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5965 5259 1753 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 7401 5085 1695 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5889 - - - - rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 5902 5259 1753 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5704 5259 1753 S tcG/tcA rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5787 - - - - rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5757 - - - - rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585102-24585102 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 5496 - - - - rs1143076 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 5344 4887 1629 S agC/agT rs1143060 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 5623 4917 1639 S agC/agT rs1143060 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - - - - - - - - - - - - - . 10:24585372-24585372 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs1143060 661 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585372-24585372 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs1143060 548 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585372-24585372 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 5088 - - - - rs1143060 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3751 3261 1087 S agC/agT rs1143060 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585372-24585372 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs1143060 558 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585372-24585372 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 2293 - - - - rs1143060 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4973 4938 1646 S agC/agT rs1143060 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - - - - - - - - - - - - - . 10:24585372-24585372 A upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs1143060 4457 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5593 4887 1629 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 5362 4917 1639 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 5408 4623 1541 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5733 4623 1541 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 5332 4887 1629 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 5081 4446 1482 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5530 4887 1629 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5506 4917 1639 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4503 4278 1426 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 5623 4917 1639 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 5636 - - - - rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5753 - - - - rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5834 - - - - rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4777 - - - - rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4855 - - - - rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5725 5019 1673 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5662 5019 1673 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5464 5019 1673 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5695 4989 1663 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 7131 4815 1605 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5619 - - - - rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 5632 4989 1663 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5434 4989 1663 S agC/agT rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - rs1143060 4834 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5517 - - - - rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5487 - - - - rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 5226 - - - - rs1143060 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585372-24585372 A downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - rs1143060 4834 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 5312 4855 1619 E/K Gaa/Aaa rs1143057 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - deleterious_low_confidence(0.02) probably_damaging(0.913) - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 5591 4885 1629 E/K Gaa/Aaa rs1143057 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - deleterious_low_confidence(0.02) probably_damaging(0.913) - - - - - - - - - - . 10:24585404-24585404 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs1143057 629 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585404-24585404 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs1143057 516 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585404-24585404 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 5056 - - - - rs1143057 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3719 3229 1077 E/K Gaa/Aaa rs1143057 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - deleterious(0.02) unknown(0) - - - - - - - - - - . 10:24585404-24585404 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs1143057 526 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585404-24585404 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 2261 - - - - rs1143057 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4941 4906 1636 E/K Gaa/Aaa rs1143057 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - deleterious_low_confidence(0.02) probably_damaging(0.925) - - - - - - - - - - . 10:24585404-24585404 T upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs1143057 4489 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5561 4855 1619 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) probably_damaging(0.913) - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 5330 4885 1629 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) probably_damaging(0.913) - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 5376 4591 1531 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5701 4591 1531 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 5300 4855 1619 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) probably_damaging(0.913) - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 5049 4414 1472 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) probably_damaging(0.994) - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5498 4855 1619 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) probably_damaging(0.913) - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5474 4885 1629 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) probably_damaging(0.913) - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4471 4246 1416 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 5591 4885 1629 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - deleterious_low_confidence(0.02) probably_damaging(0.913) - - - - - - - - - - . 10:24585404-24585404 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 5604 - - - - rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5721 - - - - rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5802 - - - - rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4745 - - - - rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4823 - - - - rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5693 4987 1663 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5630 4987 1663 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5432 4987 1663 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5663 4957 1653 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 7099 4783 1595 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5587 - - - - rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 5600 4957 1653 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5402 4957 1653 E/K Gaa/Aaa rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - rs1143057 4802 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5485 - - - - rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5455 - - - - rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 5194 - - - - rs1143057 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585404-24585404 T downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - rs1143057 4802 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 5311 4854 1618 S agT/agC rs1110020 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 5590 4884 1628 S agT/agC rs1110020 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs1110020 628 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs1110020 515 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 5055 - - - - rs1110020 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3718 3228 1076 S agT/agC rs1110020 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs1110020 525 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 2260 - - - - rs1110020 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4940 4905 1635 S agT/agC rs1110020 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs1110020 4490 -1 - - - - - - - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5560 4854 1618 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 5329 4884 1628 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 5375 4590 1530 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5700 4590 1530 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 5299 4854 1618 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 5048 4413 1471 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5497 4854 1618 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5473 4884 1628 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4470 4245 1415 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 5590 4884 1628 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 5603 - - - - rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5720 - - - - rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5801 - - - - rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4744 - - - - rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4822 - - - - rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5692 4986 1662 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5629 4986 1662 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5431 4986 1662 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5662 4956 1652 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 7098 4782 1594 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5586 - - - - rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 5599 4956 1652 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5401 4956 1652 S agT/agC rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - rs1110020 4801 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5484 - - - - rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5454 - - - - rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 5193 - - - - rs1110020 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585405-24585405 G downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - rs1110020 4801 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 5259 4802 1601 V/A gTg/gCg rs1143051 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - A A - deleterious_low_confidence(0.02) benign(0.263) - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 5538 4832 1611 V/A gTg/gCg rs1143051 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - A A - deleterious_low_confidence(0.02) benign(0.263) - - - - - - - - - - . 10:24585457-24585457 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs1143051 576 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:24585457-24585457 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs1143051 463 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:24585457-24585457 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 5003 - - - - rs1143051 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3666 3176 1059 V/A gTg/gCg rs1143051 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - A A - deleterious_low_confidence(0.02) unknown(0) - - - - - - - - - - . 10:24585457-24585457 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs1143051 473 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24585457-24585457 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 2208 - - - - rs1143051 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4888 4853 1618 V/A gTg/gCg rs1143051 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - A A - deleterious_low_confidence(0.02) benign(0.348) - - - - - - - - - - . 10:24585457-24585457 G upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs1143051 4542 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5508 4802 1601 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) benign(0.263) - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 5277 4832 1611 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) benign(0.263) - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 5323 4538 1513 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5648 4538 1513 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 5247 4802 1601 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) benign(0.263) - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 4996 4361 1454 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) possibly_damaging(0.568) - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5445 4802 1601 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) benign(0.263) - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5421 4832 1611 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) benign(0.263) - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4418 4193 1398 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 5538 4832 1611 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - A A - deleterious_low_confidence(0.02) benign(0.263) - - - - - - - - - - . 10:24585457-24585457 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 5551 - - - - rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5668 - - - - rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5749 - - - - rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4692 - - - - rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4770 - - - - rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5640 4934 1645 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5577 4934 1645 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5379 4934 1645 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5610 4904 1635 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 7046 4730 1577 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5534 - - - - rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 5547 4904 1635 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5349 4904 1635 V/A gTg/gCg rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - rs1143051 4749 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5432 - - - - rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5402 - - - - rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 5141 - - - - rs1143051 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585457-24585457 G downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - rs1143051 4749 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 5207 4750 1584 T/A Aca/Gca rs1133897 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - T T - tolerated_low_confidence(0.45) benign(0) - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 5486 4780 1594 T/A Aca/Gca rs1133897 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - T T - tolerated_low_confidence(0.45) benign(0) - - - - - - - - - - . 10:24585509-24585509 C downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs1133897 524 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:24585509-24585509 C downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs1133897 411 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:24585509-24585509 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 4951 - - - - rs1133897 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3614 3124 1042 T/A Aca/Gca rs1133897 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - T T - tolerated(0.22) unknown(0) - - - - - - - - - - . 10:24585509-24585509 C downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs1133897 421 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:24585509-24585509 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 2156 - - - - rs1133897 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4836 4801 1601 T/A Aca/Gca rs1133897 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - T T - tolerated_low_confidence(0.44) benign(0) - - - - - - - - - - . 10:24585509-24585509 C upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs1133897 4594 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5456 4750 1584 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.45) benign(0) - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 5225 4780 1594 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.45) benign(0) - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 5271 4486 1496 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.47) - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5596 4486 1496 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.47) - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 5195 4750 1584 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.45) benign(0) - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 4944 4309 1437 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.5) benign(0) - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5393 4750 1584 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.45) benign(0) - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5369 4780 1594 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.45) benign(0) - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4366 4141 1381 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.46) - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 5486 4780 1594 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - T T - tolerated_low_confidence(0.45) benign(0) - - - - - - - - - - . 10:24585509-24585509 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 5499 - - - - rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5616 - - - - rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5697 - - - - rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4640 - - - - rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4718 - - - - rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5588 4882 1628 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5525 4882 1628 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5327 4882 1628 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5558 4852 1618 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 6994 4678 1560 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5482 - - - - rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 5495 4852 1618 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5297 4852 1618 T/A Aca/Gca rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - rs1133897 4697 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5380 - - - - rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5350 - - - - rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 5089 - - - - rs1133897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585509-24585509 C downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - rs1133897 4697 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 5145-5146 4688-4689 1563 H/X cAT/c - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 5424-5425 4718-4719 1573 H/X cAT/c - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - - 462 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - - 349 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 4889-4890 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3552-3553 3062-3063 1021 H/X cAT/c - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - - 359 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 2094-2095 - - - - - - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4774-4775 4739-4740 1580 H/X cAT/c - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - - 4655 -1 - - - - - - - - Ensembl - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5394-5395 4688-4689 1563 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 5163-5164 4718-4719 1573 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 5209-5210 4424-4425 1475 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5534-5535 4424-4425 1475 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 5133-5134 4688-4689 1563 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 4882-4883 4247-4248 1416 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5331-5332 4688-4689 1563 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5307-5308 4718-4719 1573 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4304-4305 4079-4080 1360 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 5424-5425 4718-4719 1573 H/X cAT/c - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 5437-5438 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5554-5555 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5635-5636 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4578-4579 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4656-4657 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5526-5527 4820-4821 1607 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5463-5464 4820-4821 1607 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5265-5266 4820-4821 1607 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5496-5497 4790-4791 1597 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 6932-6933 4616-4617 1539 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5420-5421 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 5433-5434 4790-4791 1597 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - frameshift_variant HIGH ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5235-5236 4790-4791 1597 H/X cAT/c - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - - 4635 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5318-5319 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5288-5289 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 5027-5028 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585568-24585571 - downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - - 4635 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - AT AT - - - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 5005 4548 1516 E/D gaG/gaC rs3893301 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - tolerated_low_confidence(0.48) benign(0.003) - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 5284 4578 1526 E/D gaG/gaC rs3893301 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - tolerated_low_confidence(0.48) benign(0.003) - - - - - - - - - - . 10:24585711-24585711 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs3893301 322 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585711-24585711 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs3893301 209 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585711-24585711 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 4749 - - - - rs3893301 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3412 2922 974 E/D gaG/gaC rs3893301 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - tolerated(0.48) unknown(0) - - - - - - - - - - . 10:24585711-24585711 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs3893301 219 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585711-24585711 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 1954 - - - - rs3893301 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4634 4599 1533 E/D gaG/gaC rs3893301 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - tolerated_low_confidence(0.49) benign(0.003) - - - - - - - - - - . 10:24585711-24585711 G upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs3893301 4796 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5254 4548 1516 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.48) benign(0.003) - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 5023 4578 1526 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.48) benign(0.003) - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 5069 4284 1428 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.53) - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5394 4284 1428 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.53) - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 4993 4548 1516 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.48) benign(0.003) - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 4742 4107 1369 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.55) benign(0.003) - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5191 4548 1516 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.48) benign(0.003) - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5167 4578 1526 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.48) benign(0.003) - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4164 3939 1313 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.47) - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 5284 4578 1526 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - tolerated_low_confidence(0.48) benign(0.003) - - - - - - - - - - . 10:24585711-24585711 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 5297 - - - - rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5414 - - - - rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5495 - - - - rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4438 - - - - rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4516 - - - - rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5386 4680 1560 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5323 4680 1560 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5125 4680 1560 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5356 4650 1550 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 6792 4476 1492 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5280 - - - - rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 5293 4650 1550 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5095 4650 1550 E/D gaG/gaC rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - rs3893301 4495 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5178 - - - - rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5148 - - - - rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 4887 - - - - rs3893301 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585711-24585711 G downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - rs3893301 4495 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 4955 4498 1500 K/E Aaa/Gaa - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - T T - deleterious_low_confidence(0.03) benign(0.012) - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 5234 4528 1510 K/E Aaa/Gaa - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - T T - deleterious_low_confidence(0.03) benign(0.012) - - - - - - - - - - . 10:24585761-24585761 C downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - - 272 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:24585761-24585761 C downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - - 159 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:24585761-24585761 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 4699 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3362 2872 958 K/E Aaa/Gaa - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - T T - deleterious(0.05) unknown(0) - - - - - - - - - - . 10:24585761-24585761 C downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - - 169 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:24585761-24585761 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 1904 - - - - - - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4584 4549 1517 K/E Aaa/Gaa - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - T T - deleterious_low_confidence(0.03) benign(0.014) - - - - - - - - - - . 10:24585761-24585761 C upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - - 4846 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5204 4498 1500 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - deleterious_low_confidence(0.03) benign(0.012) - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 4973 4528 1510 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - deleterious_low_confidence(0.03) benign(0.012) - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 5019 4234 1412 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5344 4234 1412 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 4943 4498 1500 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - deleterious_low_confidence(0.03) benign(0.012) - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 4692 4057 1353 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - deleterious_low_confidence(0.02) benign(0.014) - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5141 4498 1500 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - deleterious_low_confidence(0.03) benign(0.012) - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5117 4528 1510 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - deleterious_low_confidence(0.03) benign(0.012) - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4114 3889 1297 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 5234 4528 1510 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - T T - deleterious_low_confidence(0.03) benign(0.012) - - - - - - - - - - . 10:24585761-24585761 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 5247 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5364 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5445 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4388 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4466 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5336 4630 1544 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5273 4630 1544 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5075 4630 1544 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5306 4600 1534 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 6742 4426 1476 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5230 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 5243 4600 1534 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5045 4600 1534 K/E Aaa/Gaa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - - 4445 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5128 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5098 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 4837 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585761-24585761 C downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - - 4445 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 4940 4483 1495 P/S Cca/Tca rs928748345 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - tolerated_low_confidence(0.21) benign(0) - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 5219 4513 1505 P/S Cca/Tca rs928748345 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - tolerated_low_confidence(0.21) benign(0) - - - - - - - - - - . 10:24585776-24585776 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs928748345 257 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585776-24585776 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs928748345 144 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585776-24585776 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 4684 - - - - rs928748345 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3347 2857 953 P/S Cca/Tca rs928748345 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - tolerated(0.27) unknown(0) - - - - - - - - - - . 10:24585776-24585776 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs928748345 154 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585776-24585776 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 1889 - - - - rs928748345 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4569 4534 1512 P/S Cca/Tca rs928748345 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - tolerated_low_confidence(0.22) benign(0) - - - - - - - - - - . 10:24585776-24585776 A upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs928748345 4861 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5189 4483 1495 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.21) benign(0) - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 4958 4513 1505 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.21) benign(0) - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 5004 4219 1407 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.24) - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5329 4219 1407 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.24) - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 4928 4483 1495 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.21) benign(0) - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 4677 4042 1348 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.25) benign(0.001) - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5126 4483 1495 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.21) benign(0) - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5102 4513 1505 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.21) benign(0) - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4099 3874 1292 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.29) - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 5219 4513 1505 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - tolerated_low_confidence(0.21) benign(0) - - - - - - - - - - . 10:24585776-24585776 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 5232 - - - - rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5349 - - - - rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5430 - - - - rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4373 - - - - rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4451 - - - - rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5321 4615 1539 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5258 4615 1539 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5060 4615 1539 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5291 4585 1529 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 6727 4411 1471 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5215 - - - - rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 5228 4585 1529 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5030 4585 1529 P/S Cca/Tca rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - rs928748345 4430 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5113 - - - - rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5083 - - - - rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 4822 - - - - rs928748345 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585776-24585776 A downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - rs928748345 4430 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 4927 4470 1490 S tcT/tcC - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 5206 4500 1500 S tcT/tcC - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - A A - - - - - - - - - - - - - . 10:24585789-24585789 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - - 244 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:24585789-24585789 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - - 131 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:24585789-24585789 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 4671 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3334 2844 948 S tcT/tcC - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:24585789-24585789 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - - 141 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24585789-24585789 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 1876 - - - - - - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4556 4521 1507 S tcT/tcC - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - A A - - - - - - - - - - - - - . 10:24585789-24585789 G upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - - 4874 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5176 4470 1490 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 4945 4500 1500 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 4991 4206 1402 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5316 4206 1402 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 4915 4470 1490 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 4664 4029 1343 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5113 4470 1490 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5089 4500 1500 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4086 3861 1287 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 5206 4500 1500 S tcT/tcC - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 5219 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5336 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5417 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4360 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4438 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5308 4602 1534 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5245 4602 1534 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 5047 4602 1534 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5278 4572 1524 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 6714 4398 1466 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5202 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 5215 4572 1524 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 5017 4572 1524 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - - 4417 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5100 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5070 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G 3_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 4809 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585789-24585789 G downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - - 4417 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 4858 4401 1467 N aaC/aaT rs897652746 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 5137 4431 1477 N aaC/aaT rs897652746 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - - - - - - - - - - - - - . 10:24585858-24585858 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs897652746 175 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585858-24585858 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs897652746 62 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585858-24585858 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 4602 - - - - rs897652746 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3265 2775 925 N aaC/aaT rs897652746 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585858-24585858 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - - - - - - - - - rs897652746 72 -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585858-24585858 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 1807 - - - - rs897652746 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4487 4452 1484 N aaC/aaT rs897652746 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - - - - - - - - - - - - - . 10:24585858-24585858 A upstream_gene_variant MODIFIER - ENSG00000289188 Transcript ENST00000686803.1 lncRNA - - - - - - - - - rs897652746 4943 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 5107 4401 1467 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 4876 4431 1477 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 4922 4137 1379 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5247 4137 1379 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 4846 4401 1467 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 4595 3960 1320 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 5044 4401 1467 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 5020 4431 1477 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 4017 3792 1264 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 5137 4431 1477 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 5150 - - - - rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5267 - - - - rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5348 - - - - rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4291 - - - - rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4369 - - - - rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5239 4533 1511 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5176 4533 1511 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 4978 4533 1511 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5209 4503 1501 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 6645 4329 1443 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 5133 4427 1476 T/I aCa/aTa rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 5146 4503 1501 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 4948 4503 1501 N aaC/aaT rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - rs897652746 4348 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 5031 4325 1442 T/I aCa/aTa rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 5001 4295 1432 T/I aCa/aTa rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 4740 4295 1432 T/I aCa/aTa rs897652746 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24585858-24585858 A downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - rs897652746 4348 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 4699 4242 1414 P ccG/ccA rs771394963 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 4978 4272 1424 P ccG/ccA rs771394963 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - - - - - - - - - - - - - . 10:24586017-24586017 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs771394963 16 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:24586017-24586017 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron 2/2 - - - 862 - - - - rs771394963 - -1 - HGNC HGNC:23725 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:24586017-24586017 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 4443 - - - - rs771394963 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3106 2616 872 P ccG/ccA rs771394963 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:24586017-24586017 T 3_prime_UTR_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 20/20 - - - 4123 - - - - rs771394963 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24586017-24586017 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 1648 - - - - rs771394963 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4328 4293 1431 P ccG/ccA rs771394963 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 4948 4242 1414 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 4717 4272 1424 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 4763 3978 1326 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5088 3978 1326 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 4687 4242 1414 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 4436 3801 1267 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 4885 4242 1414 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 4861 4272 1424 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 3858 3633 1211 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 4978 4272 1424 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 4991 - - - - rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5108 - - - - rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5189 - - - - rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4132 - - - - rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4210 - - - - rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5080 4374 1458 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 5017 4374 1458 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 4819 4374 1458 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5050 4344 1448 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 6486 4170 1390 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 4974 4268 1423 R/Q cGa/cAa rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 4987 4344 1448 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 4789 4344 1448 P ccG/ccA rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - rs771394963 4189 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 4872 4166 1389 R/Q cGa/cAa rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 4842 4136 1379 R/Q cGa/cAa rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 4581 4136 1379 R/Q cGa/cAa rs771394963 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586017-24586017 T downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - rs771394963 4189 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 25/25 - - - 4654 4197 1399 L ctT/ctC - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 26/26 - - - 4933 4227 1409 L ctT/ctC - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - A A - - - - - - - - - - - - - . 10:24586062-24586062 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding 8/8 - - - 561 563 188 L/S tTg/tCg - - -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - A A - deleterious_low_confidence(0) benign(0) - - - - - - - - - - . 10:24586062-24586062 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron 2/2 - - - 817 - - - - - - -1 - HGNC HGNC:23725 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:24586062-24586062 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 17/17 - - - 4398 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 19/19 - - - 3061 2571 857 L ctT/ctC - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:24586062-24586062 G 3_prime_UTR_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 20/20 - - - 4078 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24586062-24586062 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 15/15 - - - 1603 - - - - - - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 25/25 - - - 4283 4248 1416 L ctT/ctC - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 25/25 - - - 4903 4197 1399 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 26/26 - - - 4672 4227 1409 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 27/27 - - - 4718 3933 1311 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 28/28 - - - 5043 3933 1311 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 25/25 - - - 4642 4197 1399 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 23/23 - - - 4391 3756 1252 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 25/25 - - - 4840 4197 1399 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 26/26 - - - 4816 4227 1409 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 19/19 - - - 3813 3588 1196 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 26/26 - - - 4933 4227 1409 L ctT/ctC - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 27/27 - - - 4946 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 27/27 - - - 5063 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 27/27 - - - 5144 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 20/20 - - - 4087 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 20/20 - - - 4165 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 27/27 - - - 5035 4329 1443 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 27/27 - - - 4972 4329 1443 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 27/27 - - - 4774 4329 1443 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 26/26 - - - 5005 4299 1433 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 24/24 - - - 6441 4125 1375 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 26/26 - - - 4929 4223 1408 L/S tTg/tCg - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 26/26 - - - 4942 4299 1433 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 26/26 - - - 4744 4299 1433 L ctT/ctC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - - - - - - - - - - 4144 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 25/25 - - - 4827 4121 1374 L/S tTg/tCg - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 24/24 - - - 4797 4091 1364 L/S tTg/tCg - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 24/24 - - - 4536 4091 1364 L/S tTg/tCg - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24586062-24586062 G downstream_gene_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - - - - - - - - - - 4144 -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding - 21/24 - - - - - - - rs10828678,COSV57603169 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding - 22/25 - - - - - - - rs10828678,COSV57603169 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - 5/7 - - - - - - - rs10828678,COSV57603169 - -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418325.1 protein_coding - - - - - - - - - rs10828678,COSV57603169 3187 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A upstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000477190.1 retained_intron - - - - - - - - - rs10828678,COSV57603169 1741 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000482792.1 retained_intron - 2/2 - - - - - - - rs10828678,COSV57603169 - -1 - HGNC HGNC:23725 - - 4 - - Ensembl - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron - 13/16 - - - - - - - rs10828678,COSV57603169 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding - 15/18 - - - - - - - rs10828678,COSV57603169 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding - 15/19 - - - - - - - rs10828678,COSV57603169 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant,NMD_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay - 10/14 - - - - - - - rs10828678,COSV57603169 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding - 21/24 - - - - - - - rs10828678,COSV57603169 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript NM_001367447.1 protein_coding - 21/24 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript NM_001367448.1 protein_coding - 22/25 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript NM_001367449.1 protein_coding - 23/26 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript NM_001367450.1 protein_coding - 24/27 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript NM_001367451.1 protein_coding - 21/24 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript NM_001367452.1 protein_coding - 19/22 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript NM_001367453.1 protein_coding - 21/24 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript NM_001367454.1 protein_coding - 22/25 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript NM_001367455.1 protein_coding - 15/18 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript NM_020824.4 protein_coding - 22/25 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA - 22/26 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA - 22/26 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA - 22/26 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA - 15/19 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA - 15/19 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_011519602.3 protein_coding - 23/26 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_011519603.4 protein_coding - 23/26 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_011519604.3 protein_coding - 23/26 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_011519605.3 protein_coding - 22/25 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_011519606.3 protein_coding - 20/23 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_011519607.3 protein_coding - 23/25 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_047425556.1 protein_coding - 22/25 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_047425557.1 protein_coding - 22/25 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_047425559.1 protein_coding - 23/25 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_047425560.1 protein_coding - 22/24 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_047425561.1 protein_coding - 21/23 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_047425562.1 protein_coding - 21/23 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24591783-24591783 A intron_variant MODIFIER ARHGAP21 57584 Transcript XM_047425563.1 protein_coding - 22/24 - - - - - - - rs10828678,COSV57603169 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.4491 - 0,1 0,1 - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 17/25 - - - 3968 3511 1171 G/R Ggt/Cgt - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 18/26 - - - 4247 3541 1181 G/R Ggt/Cgt - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24595980-24595980 G upstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - - 20 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000418325.1 protein_coding 1/4 - - - 64 64 22 G/R Ggt/Cgt - - -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 3 - - Ensembl - C C - deleterious_low_confidence(0) probably_damaging(1) - - - - - - - - - - . 10:24595980-24595980 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding - - - - - - - - - - 842 -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:24595980-24595980 G upstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000482792.1 retained_intron - - - - - - - - - - 944 -1 - HGNC HGNC:23725 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:24595980-24595980 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 9/17 - - - 3712 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24595980-24595980 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000493154.1 protein_coding_CDS_not_defined - - - - - - - - - - 1489 -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 11/19 - - - 2375 1885 629 G/R Ggt/Cgt - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - deleterious(0) possibly_damaging(0.766) - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 11/20 - - - 3118 2902 968 G/R Ggt/Cgt - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24595980-24595980 G missense_variant,NMD_transcript_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 6/15 - - - 820 820 274 G/R Ggt/Cgt - - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - C C - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 17/25 - - - 3597 3562 1188 G/R Ggt/Cgt - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 17/25 - - - 4217 3511 1171 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 18/26 - - - 3986 3541 1181 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 19/27 - - - 4032 3247 1083 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0) - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 20/28 - - - 4357 3247 1083 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0) - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 17/25 - - - 3956 3511 1171 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 15/23 - - - 3705 3070 1024 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 17/25 - - - 4154 3511 1171 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 18/26 - - - 4130 3541 1181 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 11/19 - - - 3127 2902 968 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0) - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 18/26 - - - 4247 3541 1181 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24595980-24595980 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 18/27 - - - 3986 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 18/27 - - - 3986 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 18/27 - - - 4184 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 11/20 - - - 3127 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 11/20 - - - 3127 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 19/27 - - - 4349 3643 1215 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 19/27 - - - 4286 3643 1215 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 19/27 - - - 4088 3643 1215 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 18/26 - - - 4319 3613 1205 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 16/24 - - - 5755 3439 1147 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 19/26 - - - 4349 3643 1215 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 18/26 - - - 4256 3613 1205 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 18/26 - - - 4058 3613 1205 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 19/26 - - - 4349 3643 1215 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 18/25 - - - 4247 3541 1181 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 17/24 - - - 4217 3511 1171 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 17/24 - - - 3956 3511 1171 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24595980-24595980 G missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 18/25 - - - 4247 3541 1181 G/R Ggt/Cgt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 13/25 - - - 3512 3055 1019 L Cta/Tta COSV57605739,COSV57609897 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 14/26 - - - 3791 3085 1029 L Cta/Tta COSV57605739,COSV57609897 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A upstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - COSV57605739,COSV57609897 4733 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A upstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418325.1 protein_coding - - - - - - - - - COSV57605739,COSV57609897 4650 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 14/17 - - - 3549 3085 1029 L Cta/Tta COSV57605739,COSV57609897 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 6/17 - - - 2560 - - - - COSV57605739,COSV57609897 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000493154.1 protein_coding_CDS_not_defined 5/7 - - - 489 - - - - COSV57605739,COSV57609897 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding - 9/18 - - - - - - - COSV57605739,COSV57609897 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 7/20 - - - 2662 2446 816 L Cta/Tta COSV57605739,COSV57609897 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant,NMD_transcript_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 2/15 - - - 364 364 122 L Cta/Tta COSV57605739,COSV57609897 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 13/25 - - - 3141 3106 1036 L Cta/Tta COSV57605739,COSV57609897 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 13/25 - - - 3761 3055 1019 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 14/26 - - - 3530 3085 1029 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 15/27 - - - 3576 2791 931 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 16/28 - - - 3901 2791 931 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 13/25 - - - 3500 3055 1019 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 11/23 - - - 3249 2614 872 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 13/25 - - - 3698 3055 1019 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 14/26 - - - 3674 3085 1029 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 7/19 - - - 2671 2446 816 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 14/26 - - - 3791 3085 1029 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 14/27 - - - 3530 - - - - COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 14/27 - - - 3530 - - - - COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 14/27 - - - 3728 - - - - COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 7/20 - - - 2671 - - - - COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 7/20 - - - 2671 - - - - COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 15/27 - - - 3893 3187 1063 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 15/27 - - - 3830 3187 1063 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 15/27 - - - 3632 3187 1063 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 14/26 - - - 3863 3157 1053 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 12/24 - - - 5299 2983 995 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 15/26 - - - 3893 3187 1063 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 14/26 - - - 3800 3157 1053 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 14/26 - - - 3602 3157 1053 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 15/26 - - - 3893 3187 1063 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 14/25 - - - 3791 3085 1029 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 13/24 - - - 3761 3055 1019 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 13/24 - - - 3500 3055 1019 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600693-24600693 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 14/25 - - - 3791 3085 1029 L Cta/Tta COSV57605739,COSV57609897 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - 1,1 1,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 13/25 - - - 3313 2856 952 Y taT/taC rs1307131791,COSV57611535 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 14/26 - - - 3592 2886 962 Y taT/taC rs1307131791,COSV57611535 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G upstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418033.5 protein_coding - - - - - - - - - rs1307131791,COSV57611535 4932 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 4 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G upstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000418325.1 protein_coding - - - - - - - - - rs1307131791,COSV57611535 4849 -1 cds_start_NF,cds_end_NF HGNC HGNC:23725 - - 3 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 14/17 - - - 3350 2886 962 Y taT/taC rs1307131791,COSV57611535 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 6/17 - - - 2361 - - - - rs1307131791,COSV57611535 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G intron_variant,non_coding_transcript_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000493154.1 protein_coding_CDS_not_defined - 4/6 - - - - - - - rs1307131791,COSV57611535 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding - 9/18 - - - - - - - rs1307131791,COSV57611535 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 7/20 - - - 2463 2247 749 Y taT/taC rs1307131791,COSV57611535 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant,NMD_transcript_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000638156.1 nonsense_mediated_decay 2/15 - - - 165 165 55 Y taT/taC rs1307131791,COSV57611535 - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 13/25 - - - 2942 2907 969 Y taT/taC rs1307131791,COSV57611535 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 13/25 - - - 3562 2856 952 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 14/26 - - - 3331 2886 962 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 15/27 - - - 3377 2592 864 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 16/28 - - - 3702 2592 864 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 13/25 - - - 3301 2856 952 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 11/23 - - - 3050 2415 805 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 13/25 - - - 3499 2856 952 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 14/26 - - - 3475 2886 962 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 7/19 - - - 2472 2247 749 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 14/26 - - - 3592 2886 962 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 14/27 - - - 3331 - - - - rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 14/27 - - - 3331 - - - - rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 14/27 - - - 3529 - - - - rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 7/20 - - - 2472 - - - - rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 7/20 - - - 2472 - - - - rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 15/27 - - - 3694 2988 996 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 15/27 - - - 3631 2988 996 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 15/27 - - - 3433 2988 996 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 14/26 - - - 3664 2958 986 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 12/24 - - - 5100 2784 928 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 15/26 - - - 3694 2988 996 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 14/26 - - - 3601 2958 986 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 14/26 - - - 3403 2958 986 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 15/26 - - - 3694 2988 996 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 14/25 - - - 3592 2886 962 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 13/24 - - - 3562 2856 952 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 13/24 - - - 3301 2856 952 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24600892-24600892 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 14/25 - - - 3592 2886 962 Y taT/taC rs1307131791,COSV57611535 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 2723 2266 756 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - deleterious_low_confidence(0.02) benign(0.027) 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 3002 2296 766 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - deleterious_low_confidence(0.02) possibly_damaging(0.476) 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 2760 2296 766 G/R Ggg/Agg rs61758699,COSV99059451 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - C C - deleterious_low_confidence(0.01) - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - rs61758699,COSV99059451 1280 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 1771 - - - - rs61758699,COSV99059451 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding - 8/18 - - - - - - - rs61758699,COSV99059451 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 1873 1657 553 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - deleterious_low_confidence(0.02) benign(0.36) 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 2352 2317 773 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - deleterious_low_confidence(0.02) possibly_damaging(0.476) 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 2972 2266 756 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) benign(0.027) 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 2741 2296 766 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) possibly_damaging(0.476) 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 2787 2002 668 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 3112 2002 668 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 2711 2266 756 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) benign(0.027) 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 2460 1825 609 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) possibly_damaging(0.554) 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 2909 2266 756 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) benign(0.027) 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 2885 2296 766 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) possibly_damaging(0.476) 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 1882 1657 553 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 3002 2296 766 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - deleterious_low_confidence(0.02) possibly_damaging(0.476) 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 2741 - - - - rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 2741 - - - - rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 2939 - - - - rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 1882 - - - - rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 1882 - - - - rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 3002 2296 766 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 2939 2296 766 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 2741 2296 766 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 2972 2266 756 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 4408 2092 698 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 3002 2296 766 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 2909 2266 756 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 2711 2266 756 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 3002 2296 766 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 3002 2296 766 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 2972 2266 756 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 2711 2266 756 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619599-24619599 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 3002 2296 766 G/R Ggg/Agg rs61758699,COSV99059451 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - 0.0020 likely_benign 0,1 1,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 2661 2204 735 R/H cGc/cAc rs763011805,COSV57608394 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - tolerated_low_confidence(0.4) benign(0.018) - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 2940 2234 745 R/H cGc/cAc rs763011805,COSV57608394 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - tolerated_low_confidence(0.41) benign(0.012) - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 2698 2234 745 R/H cGc/cAc rs763011805,COSV57608394 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - C C - tolerated_low_confidence(0.55) - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - rs763011805,COSV57608394 1218 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 1709 - - - - rs763011805,COSV57608394 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding - 8/18 - - - - - - - rs763011805,COSV57608394 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 1811 1595 532 R/H cGc/cAc rs763011805,COSV57608394 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - tolerated_low_confidence(0.47) benign(0.044) - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 2290 2255 752 R/H cGc/cAc rs763011805,COSV57608394 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - tolerated_low_confidence(0.41) benign(0.018) - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 2910 2204 735 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.4) benign(0.018) - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 2679 2234 745 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.41) benign(0.012) - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 2725 1940 647 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.45) - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 3050 1940 647 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.45) - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 2649 2204 735 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.4) benign(0.018) - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 2398 1763 588 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.45) benign(0.027) - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 2847 2204 735 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.4) benign(0.018) - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 2823 2234 745 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.41) benign(0.012) - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 1820 1595 532 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.44) - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 2940 2234 745 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - tolerated_low_confidence(0.41) benign(0.012) - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 2679 - - - - rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 2679 - - - - rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 2877 - - - - rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 1820 - - - - rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 1820 - - - - rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 2940 2234 745 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 2877 2234 745 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 2679 2234 745 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 2910 2204 735 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 4346 2030 677 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 2940 2234 745 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 2847 2204 735 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 2649 2204 735 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 2940 2234 745 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 2940 2234 745 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 2910 2204 735 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 2649 2204 735 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619661-24619661 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 2940 2234 745 R/H cGc/cAc rs763011805,COSV57608394 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 2595 2138 713 T/I aCt/aTt rs769853242 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 2874 2168 723 T/I aCt/aTt rs769853242 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 2632 2168 723 T/I aCt/aTt rs769853242 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - G G - tolerated_low_confidence(1) - - - - - - - - - - - . 10:24619727-24619727 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - rs769853242 1152 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:24619727-24619727 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 1643 - - - - rs769853242 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24619727-24619727 A intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding - 8/18 - - - - - - - rs769853242 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 1745 1529 510 T/I aCt/aTt rs769853242 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 2224 2189 730 T/I aCt/aTt rs769853242 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 2844 2138 713 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 2613 2168 723 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 2659 1874 625 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(1) - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 2984 1874 625 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(1) - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 2583 2138 713 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 2332 1697 566 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 2781 2138 713 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 2757 2168 723 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 1754 1529 510 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(1) - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 2874 2168 723 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24619727-24619727 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 2613 - - - - rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 2613 - - - - rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 2811 - - - - rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 1754 - - - - rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 1754 - - - - rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 2874 2168 723 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 2811 2168 723 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 2613 2168 723 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 2844 2138 713 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 4280 1964 655 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 2874 2168 723 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 2781 2138 713 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 2583 2138 713 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 2874 2168 723 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 2874 2168 723 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 2844 2138 713 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 2583 2138 713 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619727-24619727 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 2874 2168 723 T/I aCt/aTt rs769853242 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 2565 2108 703 N/S aAt/aGt rs3748222,COSV57603043 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - T T - tolerated_low_confidence(0.35) benign(0.003) 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 2844 2138 713 N/S aAt/aGt rs3748222,COSV57603043 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - T T - tolerated_low_confidence(0.35) benign(0.003) 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 2602 2138 713 N/S aAt/aGt rs3748222,COSV57603043 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - T T - tolerated_low_confidence(0.4) - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - rs3748222,COSV57603043 1122 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 1613 - - - - rs3748222,COSV57603043 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding - 8/18 - - - - - - - rs3748222,COSV57603043 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 1715 1499 500 N/S aAt/aGt rs3748222,COSV57603043 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - tolerated_low_confidence(0.39) benign(0.003) 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 2194 2159 720 N/S aAt/aGt rs3748222,COSV57603043 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - T T - tolerated_low_confidence(0.33) benign(0.003) 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 2814 2108 703 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.35) benign(0.003) 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 2583 2138 713 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.35) benign(0.003) 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 2629 1844 615 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.35) - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 2954 1844 615 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.35) - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 2553 2108 703 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.35) benign(0.003) 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 2302 1667 556 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.33) benign(0.015) 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 2751 2108 703 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.35) benign(0.003) 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 2727 2138 713 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.35) benign(0.003) 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 1724 1499 500 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.35) - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 2844 2138 713 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - T T - tolerated_low_confidence(0.35) benign(0.003) 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 2583 - - - - rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 2583 - - - - rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 2781 - - - - rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 1724 - - - - rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 1724 - - - - rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 2844 2138 713 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 2781 2138 713 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 2583 2138 713 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 2814 2108 703 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 4250 1934 645 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 2844 2138 713 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 2751 2108 703 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 2553 2108 703 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 2844 2138 713 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 2844 2138 713 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 2814 2108 703 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 2553 2108 703 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619757-24619757 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 2844 2138 713 N/S aAt/aGt rs3748222,COSV57603043 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - 0.4383 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 2444 1987 663 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - tolerated_low_confidence(0.08) benign(0.012) 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 2723 2017 673 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - tolerated_low_confidence(0.08) benign(0.012) 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 2481 2017 673 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - G G - tolerated_low_confidence(0.1) - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - rs572622289,COSV57612709 1001 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 1492 - - - - rs572622289,COSV57612709 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding - 8/18 - - - - - - - rs572622289,COSV57612709 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 1594 1378 460 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - tolerated_low_confidence(0.09) benign(0.012) 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 2073 2038 680 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - tolerated_low_confidence(0.08) benign(0.012) 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 2693 1987 663 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.08) benign(0.012) 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 2462 2017 673 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.08) benign(0.012) 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 2508 1723 575 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.08) - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 2833 1723 575 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.08) - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 2432 1987 663 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.08) benign(0.012) 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 2181 1546 516 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.08) benign(0.007) 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 2630 1987 663 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.08) benign(0.012) 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 2606 2017 673 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.08) benign(0.012) 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 1603 1378 460 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.1) - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 2723 2017 673 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - tolerated_low_confidence(0.08) benign(0.012) 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 2462 - - - - rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 2462 - - - - rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 2660 - - - - rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 1603 - - - - rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 1603 - - - - rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 2723 2017 673 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 2660 2017 673 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 2462 2017 673 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 2693 1987 663 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 4129 1813 605 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 2723 2017 673 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 2630 1987 663 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 2432 1987 663 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 2723 2017 673 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 2723 2017 673 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 2693 1987 663 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 2432 1987 663 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619878-24619878 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 2723 2017 673 P/S Ccc/Tcc rs572622289,COSV57612709 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - 0.0006 - 0,1 0,1 - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 2343 1886 629 S/N aGc/aAc - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - tolerated_low_confidence(0.17) benign(0.001) - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 2622 1916 639 S/N aGc/aAc - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - tolerated_low_confidence(0.17) benign(0.003) - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 2380 1916 639 S/N aGc/aAc - - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - C C - tolerated_low_confidence(0.18) - - - - - - - - - - - . 10:24619979-24619979 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - - 900 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:24619979-24619979 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 1391 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24619979-24619979 T intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding - 8/18 - - - - - - - - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 1493 1277 426 S/N aGc/aAc - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - tolerated_low_confidence(0.17) benign(0.003) - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1972 1937 646 S/N aGc/aAc - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - tolerated_low_confidence(0.17) benign(0.006) - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 2592 1886 629 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.17) benign(0.001) - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 2361 1916 639 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.17) benign(0.003) - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 2407 1622 541 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.17) - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 2732 1622 541 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.17) - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 2331 1886 629 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.17) benign(0.001) - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 2080 1445 482 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.17) benign(0.006) - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 2529 1886 629 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.17) benign(0.001) - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 2505 1916 639 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.17) benign(0.003) - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 1502 1277 426 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(0.17) - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 2622 1916 639 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - tolerated_low_confidence(0.17) benign(0.003) - - - - - - - - - - . 10:24619979-24619979 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 2361 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 2361 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 2559 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 1502 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 1502 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 2622 1916 639 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 2559 1916 639 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 2361 1916 639 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 2592 1886 629 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 4028 1712 571 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 2622 1916 639 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 2529 1886 629 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 2331 1886 629 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 2622 1916 639 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 2622 1916 639 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 2592 1886 629 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 2331 1886 629 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24619979-24619979 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 2622 1916 639 S/N aGc/aAc - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 2231 1774 592 T/A Act/Gct rs770199418,COSV57604085 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - T T - tolerated_low_confidence(0.54) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 2510 1804 602 T/A Act/Gct rs770199418,COSV57604085 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - T T - tolerated_low_confidence(0.55) benign(0.003) - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 2268 1804 602 T/A Act/Gct rs770199418,COSV57604085 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - T T - tolerated_low_confidence(0.57) - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - rs770199418,COSV57604085 788 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 1279 - - - - rs770199418,COSV57604085 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding - 8/18 - - - - - - - rs770199418,COSV57604085 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 1381 1165 389 T/A Act/Gct rs770199418,COSV57604085 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - tolerated_low_confidence(0.5) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1860 1825 609 T/A Act/Gct rs770199418,COSV57604085 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - T T - tolerated_low_confidence(0.55) benign(0.003) - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 2480 1774 592 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.54) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 2249 1804 602 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.55) benign(0.003) - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 2295 1510 504 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.54) - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 2620 1510 504 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.54) - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 2219 1774 592 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.54) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1968 1333 445 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.54) benign(0) - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 2417 1774 592 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.54) benign(0.001) - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 2393 1804 602 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.55) benign(0.003) - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 1390 1165 389 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - tolerated_low_confidence(0.57) - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 2510 1804 602 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - T T - tolerated_low_confidence(0.55) benign(0.003) - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 2249 - - - - rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 2249 - - - - rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 2447 - - - - rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 1390 - - - - rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 1390 - - - - rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 2510 1804 602 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 2447 1804 602 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 2249 1804 602 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 2480 1774 592 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3916 1600 534 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 2510 1804 602 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 2417 1774 592 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 2219 1774 592 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 2510 1804 602 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 2510 1804 602 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 2480 1774 592 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 2219 1774 592 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620091-24620091 C missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 2510 1804 602 T/A Act/Gct rs770199418,COSV57604085 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 2204 1747 583 L Ttg/Ctg rs12767814 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 2483 1777 593 L Ttg/Ctg rs12767814 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 2241 1777 593 L Ttg/Ctg rs12767814 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:24620118-24620118 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - rs12767814 761 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:24620118-24620118 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 1252 - - - - rs12767814 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24620118-24620118 G intron_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding - 8/18 - - - - - - - rs12767814 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 1354 1138 380 L Ttg/Ctg rs12767814 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1833 1798 600 L Ttg/Ctg rs12767814 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 2453 1747 583 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 2222 1777 593 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 2268 1483 495 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 2593 1483 495 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 2192 1747 583 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1941 1306 436 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 2390 1747 583 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 2366 1777 593 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 1363 1138 380 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 2483 1777 593 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 2222 - - - - rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 2222 - - - - rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 2420 - - - - rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 1363 - - - - rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 1363 - - - - rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 2483 1777 593 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 2420 1777 593 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 2222 1777 593 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 2453 1747 583 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3889 1573 525 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 2483 1777 593 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 2390 1747 583 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 2192 1747 583 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 2483 1777 593 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 2483 1777 593 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 2453 1747 583 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 2192 1747 583 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620118-24620118 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 2483 1777 593 L Ttg/Ctg rs12767814 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 2116 1659 553 S agC/agT rs12765840 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 2395 1689 563 S agC/agT rs12765840 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 2153 1689 563 S agC/agT rs12765840 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620206-24620206 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - rs12765840 673 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620206-24620206 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 1164 - - - - rs12765840 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 2146 1656 552 S agC/agT rs12765840 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 1266 1050 350 S agC/agT rs12765840 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1745 1710 570 S agC/agT rs12765840 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 2365 1659 553 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 2134 1689 563 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 2180 1395 465 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 2505 1395 465 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 2104 1659 553 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1853 1218 406 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 2302 1659 553 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 2278 1689 563 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 1275 1050 350 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 2395 1689 563 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 2134 - - - - rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 2134 - - - - rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 2332 - - - - rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 1275 - - - - rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 1275 - - - - rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 2395 1689 563 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 2332 1689 563 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 2134 1689 563 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 2365 1659 553 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3801 1485 495 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 2395 1689 563 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 2302 1659 553 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 2104 1659 553 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 2395 1689 563 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 2395 1689 563 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 2365 1659 553 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 2104 1659 553 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620206-24620206 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 2395 1689 563 S agC/agT rs12765840 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 2049 1592 531 C/Y tGt/tAt - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 2328 1622 541 C/Y tGt/tAt - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 2086 1622 541 C/Y tGt/tAt - - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - C C - tolerated_low_confidence(1) - - - - - - - - - - - . 10:24620273-24620273 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - - 606 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:24620273-24620273 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 1097 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 2079 1589 530 C/Y tGt/tAt - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - tolerated(1) benign(0) - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 1199 983 328 C/Y tGt/tAt - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1678 1643 548 C/Y tGt/tAt - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 2298 1592 531 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 2067 1622 541 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 2113 1328 443 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 2438 1328 443 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 2037 1592 531 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1786 1151 384 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 2235 1592 531 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 2211 1622 541 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 1208 983 328 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 2328 1622 541 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0) - - - - - - - - - - . 10:24620273-24620273 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 2067 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 2067 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 2265 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 1208 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 1208 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 2328 1622 541 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 2265 1622 541 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 2067 1622 541 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 2298 1592 531 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3734 1418 473 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 2328 1622 541 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 2235 1592 531 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 2037 1592 531 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 2328 1622 541 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 2328 1622 541 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 2298 1592 531 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 2037 1592 531 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620273-24620273 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 2328 1622 541 C/Y tGt/tAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 1984 1527 509 N aaT/aaC COSV57601984 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 2263 1557 519 N aaT/aaC COSV57601984 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 2021 1557 519 N aaT/aaC COSV57601984 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - COSV57601984 541 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 1032 - - - - COSV57601984 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 2014 1524 508 N aaT/aaC COSV57601984 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 1134 918 306 N aaT/aaC COSV57601984 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1613 1578 526 N aaT/aaC COSV57601984 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 2233 1527 509 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 2002 1557 519 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 2048 1263 421 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 2373 1263 421 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 1972 1527 509 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1721 1086 362 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 2170 1527 509 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 2146 1557 519 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 1143 918 306 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 2263 1557 519 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 2002 - - - - COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 2002 - - - - COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 2200 - - - - COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 1143 - - - - COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 1143 - - - - COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 2263 1557 519 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 2200 1557 519 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 2002 1557 519 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 2233 1527 509 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3669 1353 451 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 2263 1557 519 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 2170 1527 509 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 1972 1527 509 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 2263 1557 519 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 2263 1557 519 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 2233 1527 509 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 1972 1527 509 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620338-24620338 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 2263 1557 519 N aaT/aaC COSV57601984 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 1717 1260 420 P ccC/ccT - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 1996 1290 430 P ccC/ccT - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 1754 1290 430 P ccC/ccT - - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620605-24620605 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - - 274 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620605-24620605 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 765 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 1747 1257 419 P ccC/ccT - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 867 651 217 P ccC/ccT - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1346 1311 437 P ccC/ccT - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 1966 1260 420 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 1735 1290 430 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 1781 996 332 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 2106 996 332 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 1705 1260 420 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1454 819 273 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 1903 1260 420 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 1879 1290 430 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 876 651 217 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 1996 1290 430 P ccC/ccT - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 1735 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 1735 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 1933 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 876 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 876 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 1996 1290 430 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 1933 1290 430 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 1735 1290 430 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 1966 1260 420 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3402 1086 362 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 1996 1290 430 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 1903 1260 420 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 1705 1260 420 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 1996 1290 430 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 1996 1290 430 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 1966 1260 420 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 1705 1260 420 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620605-24620605 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 1996 1290 430 P ccC/ccT - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 1696 1239 413 T acA/acG - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 1975 1269 423 T acA/acG - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 1733 1269 423 T acA/acG - - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:24620626-24620626 C downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - - 253 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:24620626-24620626 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 744 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 1726 1236 412 T acA/acG - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 846 630 210 T acA/acG - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1325 1290 430 T acA/acG - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 1945 1239 413 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 1714 1269 423 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 1760 975 325 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 2085 975 325 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 1684 1239 413 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1433 798 266 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 1882 1239 413 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 1858 1269 423 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 855 630 210 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 1975 1269 423 T acA/acG - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 1714 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 1714 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 1912 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 855 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 855 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 1975 1269 423 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 1912 1269 423 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 1714 1269 423 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 1945 1239 413 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3381 1065 355 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 1975 1269 423 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 1882 1239 413 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 1684 1239 413 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 1975 1269 423 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 1975 1269 423 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 1945 1239 413 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 1684 1239 413 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620626-24620626 C synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 1975 1269 423 T acA/acG - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 1695 1238 413 T/I aCa/aTa - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - tolerated_low_confidence(0.06) benign(0.26) - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 1974 1268 423 T/I aCa/aTa - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - tolerated_low_confidence(0.06) benign(0.26) - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 1732 1268 423 T/I aCa/aTa - - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - G G - tolerated_low_confidence(0.07) - - - - - - - - - - - . 10:24620627-24620627 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - - 252 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620627-24620627 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 743 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 1725 1235 412 T/I aCa/aTa - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - deleterious(0.04) probably_damaging(0.98) - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 845 629 210 T/I aCa/aTa - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - tolerated_low_confidence(0.05) benign(0.03) - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1324 1289 430 T/I aCa/aTa - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - tolerated_low_confidence(0.06) benign(0.277) - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 1944 1238 413 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.06) benign(0.26) - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 1713 1268 423 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.06) benign(0.26) - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 1759 974 325 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.06) - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 2084 974 325 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.06) - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 1683 1238 413 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.06) benign(0.26) - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1432 797 266 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.06) benign(0.21) - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 1881 1238 413 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.06) benign(0.26) - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 1857 1268 423 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.06) benign(0.26) - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 854 629 210 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - tolerated_low_confidence(0.06) - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 1974 1268 423 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - tolerated_low_confidence(0.06) benign(0.26) - - - - - - - - - - . 10:24620627-24620627 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 1713 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 1713 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 1911 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 854 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 854 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 1974 1268 423 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 1911 1268 423 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 1713 1268 423 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 1944 1238 413 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3380 1064 355 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 1974 1268 423 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 1881 1238 413 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 1683 1238 413 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 1974 1268 423 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 1974 1268 423 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 1944 1238 413 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 1683 1238 413 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620627-24620627 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 1974 1268 423 T/I aCa/aTa - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 1557 1100 367 S/L tCg/tTg rs776725226 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - deleterious_low_confidence(0) possibly_damaging(0.819) - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 1836 1130 377 S/L tCg/tTg rs776725226 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - deleterious_low_confidence(0) possibly_damaging(0.897) - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 1594 1130 377 S/L tCg/tTg rs776725226 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - G G - deleterious_low_confidence(0) - - - - - - - - - - - . 10:24620765-24620765 A downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - rs776725226 114 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620765-24620765 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 605 - - - - rs776725226 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 1587 1097 366 S/L tCg/tTg rs776725226 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - deleterious(0) probably_damaging(0.923) - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 707 491 164 S/L tCg/tTg rs776725226 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.999) - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1186 1151 384 S/L tCg/tTg rs776725226 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - deleterious_low_confidence(0) benign(0.272) - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 1806 1100 367 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.819) - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 1575 1130 377 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.897) - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 1621 836 279 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0) - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 1946 836 279 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0) - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 1545 1100 367 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.819) - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1294 659 220 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.897) - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 1743 1100 367 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.819) - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 1719 1130 377 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.897) - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 716 491 164 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0) - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 1836 1130 377 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.897) - - - - - - - - - - . 10:24620765-24620765 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 1575 - - - - rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 1575 - - - - rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 1773 - - - - rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 716 - - - - rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 716 - - - - rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 1836 1130 377 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 1773 1130 377 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 1575 1130 377 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 1806 1100 367 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3242 926 309 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 1836 1130 377 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 1743 1100 367 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 1545 1100 367 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 1836 1130 377 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 1836 1130 377 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 1806 1100 367 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 1545 1100 367 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620765-24620765 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 1836 1130 377 S/L tCg/tTg rs776725226 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 1468 1011 337 K aaG/aaA - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 1747 1041 347 K aaG/aaA - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 1505 1041 347 K aaG/aaA - - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:24620854-24620854 T downstream_gene_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron - - - - - - - - - - 25 -1 - HGNC HGNC:23725 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:24620854-24620854 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 516 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 1498 1008 336 K aaG/aaA - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 618 402 134 K aaG/aaA - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1097 1062 354 K aaG/aaA - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 1717 1011 337 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 1486 1041 347 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 1532 747 249 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 1857 747 249 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 1456 1011 337 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1205 570 190 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 1654 1011 337 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 1630 1041 347 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 627 402 134 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 1747 1041 347 K aaG/aaA - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 1486 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 1486 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 1684 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 627 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 627 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 1747 1041 347 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 1684 1041 347 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 1486 1041 347 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 1717 1011 337 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3153 837 279 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 1747 1041 347 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 1654 1011 337 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 1456 1011 337 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 1747 1041 347 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 1747 1041 347 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 1717 1011 337 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 1456 1011 337 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620854-24620854 T synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 1747 1041 347 K aaG/aaA - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 1442 985 329 L Ctg/Ttg rs769823141 - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 1721 1015 339 L Ctg/Ttg rs769823141 - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 1479 1015 339 L Ctg/Ttg rs769823141 - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron 2/2 - - - 600 - - - - rs769823141 - -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 490 - - - - rs769823141 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 1472 982 328 L Ctg/Ttg rs769823141 - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 592 376 126 L Ctg/Ttg rs769823141 - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1071 1036 346 L Ctg/Ttg rs769823141 - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 1691 985 329 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 1460 1015 339 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 1506 721 241 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 1831 721 241 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 1430 985 329 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1179 544 182 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 1628 985 329 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 1604 1015 339 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 601 376 126 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 1721 1015 339 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 1460 - - - - rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 1460 - - - - rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 1658 - - - - rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 601 - - - - rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 601 - - - - rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 1721 1015 339 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 1658 1015 339 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 1460 1015 339 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 1691 985 329 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3127 811 271 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 1721 1015 339 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 1628 985 329 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 1430 985 329 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 1721 1015 339 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 1721 1015 339 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 1691 985 329 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 1430 985 329 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620880-24620880 A synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 1721 1015 339 L Ctg/Ttg rs769823141 - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - likely_benign - 1 - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 1426 969 323 P ccT/ccC - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 1705 999 333 P ccT/ccC - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 1463 999 333 P ccT/ccC - - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:24620896-24620896 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron 2/2 - - - 584 - - - - - - -1 - HGNC HGNC:23725 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:24620896-24620896 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 474 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 1456 966 322 P ccT/ccC - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 576 360 120 P ccT/ccC - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 1055 1020 340 P ccT/ccC - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 1675 969 323 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 1444 999 333 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 1490 705 235 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 1815 705 235 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 1414 969 323 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1163 528 176 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 1612 969 323 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 1588 999 333 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 585 360 120 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 1705 999 333 P ccT/ccC - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 1444 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 1444 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 1642 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 585 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 585 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 1705 999 333 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 1642 999 333 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 1444 999 333 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 1675 969 323 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3111 795 265 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 1705 999 333 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 1612 969 323 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 1414 969 323 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 1705 999 333 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 1705 999 333 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 1675 969 323 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 1414 969 323 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620896-24620896 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 1705 999 333 P ccT/ccC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 1344 887 296 S/N aGt/aAt - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - C C - tolerated_low_confidence(1) benign(0.001) - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 1623 917 306 S/N aGt/aAt - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - C C - tolerated_low_confidence(1) benign(0.003) - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 1381 917 306 S/N aGt/aAt - - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - C C - tolerated_low_confidence(1) - - - - - - - - - - - . 10:24620978-24620978 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron 2/2 - - - 502 - - - - - - -1 - HGNC HGNC:23725 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:24620978-24620978 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 392 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 1374 884 295 S/N aGt/aAt - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - C C - tolerated_low_confidence(0.88) benign(0.073) - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 494 278 93 S/N aGt/aAt - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - C C - tolerated_low_confidence(1) benign(0.006) - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 973 938 313 S/N aGt/aAt - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - C C - tolerated_low_confidence(1) benign(0.003) - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 1593 887 296 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0.001) - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 1362 917 306 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0.003) - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 1408 623 208 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 1733 623 208 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 1332 887 296 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0.001) - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1081 446 149 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0.003) - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 1530 887 296 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0.001) - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 1506 917 306 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0.003) - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 503 278 93 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - tolerated_low_confidence(1) - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 1623 917 306 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0.003) - - - - - - - - - - . 10:24620978-24620978 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 1362 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 1362 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 1560 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 503 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 503 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 1623 917 306 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 1560 917 306 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 1362 917 306 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 1593 887 296 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3029 713 238 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 1623 917 306 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 1530 887 296 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 1332 887 296 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 1623 917 306 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 1623 917 306 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 1593 887 296 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 1332 887 296 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24620978-24620978 T missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 1623 917 306 S/N aGt/aAt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 1320 863 288 T/I aCt/aTt - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - G G - deleterious_low_confidence(0.02) benign(0.113) - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 1599 893 298 T/I aCt/aTt - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - G G - deleterious_low_confidence(0.02) benign(0.113) - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 1357 893 298 T/I aCt/aTt - - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - G G - deleterious_low_confidence(0.03) - - - - - - - - - - - . 10:24621002-24621002 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron 2/2 - - - 478 - - - - - - -1 - HGNC HGNC:23725 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:24621002-24621002 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 368 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 1350 860 287 T/I aCt/aTt - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - G G - tolerated(0.16) possibly_damaging(0.664) - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 470 254 85 T/I aCt/aTt - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - G G - deleterious_low_confidence(0.02) benign(0.207) - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 949 914 305 T/I aCt/aTt - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - G G - deleterious_low_confidence(0.02) benign(0.113) - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 1569 863 288 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.02) benign(0.113) - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 1338 893 298 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.02) benign(0.113) - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 1384 599 200 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 1709 599 200 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.02) - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 1308 863 288 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.02) benign(0.113) - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1057 422 141 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.03) benign(0.138) - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 1506 863 288 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.02) benign(0.113) - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 1482 893 298 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.02) benign(0.113) - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 479 254 85 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - deleterious_low_confidence(0.03) - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 1599 893 298 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - G G - deleterious_low_confidence(0.02) benign(0.113) - - - - - - - - - - . 10:24621002-24621002 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 1338 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 1338 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 1536 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 479 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 479 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 1599 893 298 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 1536 893 298 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 1338 893 298 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 1569 863 288 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 3005 689 230 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 1599 893 298 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 1506 863 288 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 1308 863 288 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 1599 893 298 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 1599 893 298 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 1569 863 288 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 1308 863 288 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621002-24621002 A missense_variant MODERATE ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 1599 893 298 T/I aCt/aTt - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 8/25 - - - 1288 831 277 N aaT/aaC - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 9/26 - - - 1567 861 287 N aaT/aaC - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 9/17 - - - 1325 861 287 N aaT/aaC - - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:24621034-24621034 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000483114.1 retained_intron 2/2 - - - 446 - - - - - - -1 - HGNC HGNC:23725 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:24621034-24621034 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000486374.5 retained_intron 1/17 - - - 336 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 8/19 - - - 1318 828 276 N aaT/aaC - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000636789.1 protein_coding 2/20 - - - 438 222 74 N aaT/aaC - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 8/25 - - - 917 882 294 N aaT/aaC - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 8/25 - - - 1537 831 277 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 9/26 - - - 1306 861 287 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 10/27 - - - 1352 567 189 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 11/28 - - - 1677 567 189 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 8/25 - - - 1276 831 277 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 6/23 - - - 1025 390 130 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 8/25 - - - 1474 831 277 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 9/26 - - - 1450 861 287 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367455.1 protein_coding 2/19 - - - 447 222 74 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 9/26 - - - 1567 861 287 N aaT/aaC - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 9/27 - - - 1306 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 9/27 - - - 1306 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 9/27 - - - 1504 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160024.1 misc_RNA 2/20 - - - 447 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160025.1 misc_RNA 2/20 - - - 447 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 9/27 - - - 1567 861 287 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 9/27 - - - 1504 861 287 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 9/27 - - - 1306 861 287 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 8/26 - - - 1537 831 277 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519606.3 protein_coding 6/24 - - - 2973 657 219 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 9/26 - - - 1567 861 287 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 8/26 - - - 1474 831 277 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 8/26 - - - 1276 831 277 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 9/26 - - - 1567 861 287 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 9/25 - - - 1567 861 287 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 8/24 - - - 1537 831 277 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 8/24 - - - 1276 831 277 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 9/25 - - - 1567 861 287 N aaT/aaC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24621034-24621034 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001177474 TF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000376410.7 protein_coding 3/25 - - - 571 114 38 S tcT/tcC - - -1 - HGNC HGNC:23725 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000396432.7 protein_coding 3/26 - - - 820 114 38 S tcT/tcC - - -1 - HGNC HGNC:23725 NM_020824.4 - 1 P3 - Ensembl - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000416305.1 protein_coding 2/7 - - - 81 81 27 S tcT/tcC - - -1 cds_start_NF HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000446003.5 protein_coding 3/17 - - - 578 114 38 S tcT/tcC - - -1 cds_end_NF HGNC HGNC:23725 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:24670347-24670347 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000472150.1 protein_coding_CDS_not_defined 4/4 - - - 667 - - - - - - -1 - HGNC HGNC:23725 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:24670347-24670347 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 ENSG00000107863 Transcript ENST00000476499.1 retained_intron 2/6 - - - 249 - - - - - - -1 - HGNC HGNC:23725 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000612832.4 protein_coding 3/19 - - - 601 111 37 S tcT/tcC - - -1 - HGNC HGNC:23725 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 ENSG00000107863 Transcript ENST00000680286.1 protein_coding 2/25 - - - 170 135 45 S tcT/tcC - - -1 - HGNC HGNC:23725 - - - A2 - Ensembl - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367447.1 protein_coding 3/25 - - - 820 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367448.1 protein_coding 3/26 - - - 559 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G 5_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript NM_001367449.1 protein_coding 3/27 - - - 559 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G 5_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript NM_001367450.1 protein_coding 3/28 - - - 559 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367451.1 protein_coding 3/25 - - - 559 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G 5_prime_UTR_variant MODIFIER ARHGAP21 57584 Transcript NM_001367452.1 protein_coding 3/23 - - - 505 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367453.1 protein_coding 3/25 - - - 757 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_001367454.1 protein_coding 3/26 - - - 703 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript NM_020824.4 protein_coding 3/26 - - - 820 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 ENST00000396432.7 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160021.1 misc_RNA 3/27 - - - 559 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160022.1 misc_RNA 3/27 - - - 559 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G non_coding_transcript_exon_variant MODIFIER ARHGAP21 57584 Transcript NR_160023.1 misc_RNA 3/27 - - - 757 - - - - - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519602.3 protein_coding 3/27 - - - 820 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519603.4 protein_coding 3/27 - - - 757 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519604.3 protein_coding 3/27 - - - 559 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519605.3 protein_coding 3/26 - - - 820 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_011519607.3 protein_coding 3/26 - - - 820 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425556.1 protein_coding 3/26 - - - 757 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425557.1 protein_coding 3/26 - - - 559 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425559.1 protein_coding 3/26 - - - 820 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425560.1 protein_coding 3/25 - - - 820 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425561.1 protein_coding 3/24 - - - 820 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425562.1 protein_coding 3/24 - - - 559 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24670347-24670347 G synonymous_variant LOW ARHGAP21 57584 Transcript XM_047425563.1 protein_coding 3/25 - - - 820 114 38 S tcT/tcC - - -1 - EntrezGene HGNC:23725 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:24851482-24851482 C intron_variant MODIFIER PRTFDC1 ENSG00000099256 Transcript ENST00000320152.11 protein_coding - 7/8 - - - - - - - rs1326192 - -1 - HGNC HGNC:23333 NM_020200.7 - 1 P1 - Ensembl - G G - - - 0.4411 - - - - - - - - - . 10:24851482-24851482 C intron_variant MODIFIER PRTFDC1 ENSG00000099256 Transcript ENST00000376378.5 protein_coding - 7/7 - - - - - - - rs1326192 - -1 - HGNC HGNC:23333 - - 2 - - Ensembl - G G - - - 0.4411 - - - - - - - - - . 10:24851482-24851482 C intron_variant MODIFIER PRTFDC1 56952 Transcript NM_001282786.2 protein_coding - 7/7 - - - - - - - rs1326192 - -1 - EntrezGene HGNC:23333 - - - - - RefSeq - G G - - - 0.4411 - - - - - - - - - . 10:24851482-24851482 C intron_variant MODIFIER PRTFDC1 56952 Transcript NM_020200.7 protein_coding - 7/8 - - - - - - - rs1326192 - -1 - EntrezGene HGNC:23333 ENST00000320152.11 - - - - RefSeq - G G - - - 0.4411 - - - - - - - - - . 10:24908539-24908539 A intron_variant MODIFIER PRTFDC1 ENSG00000099256 Transcript ENST00000320152.11 protein_coding - 3/8 - - - - - - - rs76661123,COSV60778534 - -1 - HGNC HGNC:23333 NM_020200.7 - 1 P1 - Ensembl - G G - - - 0.0204 - 0,1 0,1 - - - - - - . 10:24908539-24908539 A synonymous_variant LOW PRTFDC1 ENSG00000099256 Transcript ENST00000376376.3 protein_coding 4/4 - - - 503 486 162 H caC/caT rs76661123,COSV60778534 - -1 - HGNC HGNC:23333 - - 2 - - Ensembl - G G - - - 0.0204 - 0,1 0,1 - - - - - - . 10:24908539-24908539 A intron_variant MODIFIER PRTFDC1 ENSG00000099256 Transcript ENST00000376378.5 protein_coding - 3/7 - - - - - - - rs76661123,COSV60778534 - -1 - HGNC HGNC:23333 - - 2 - - Ensembl - G G - - - 0.0204 - 0,1 0,1 - - - - - - . 10:24908539-24908539 A non_coding_transcript_exon_variant MODIFIER RN7SKP241 ENSG00000240294 Transcript ENST00000464584.2 misc_RNA 1/1 - - - 274 - - - - rs76661123,COSV60778534 - -1 - HGNC HGNC:45965 - - - - - Ensembl - G G - - - 0.0204 - 0,1 0,1 - - - - - - . 10:24908539-24908539 A intron_variant MODIFIER PRTFDC1 56952 Transcript NM_001282786.2 protein_coding - 3/7 - - - - - - - rs76661123,COSV60778534 - -1 - EntrezGene HGNC:23333 - - - - - RefSeq - G G - - - 0.0204 - 0,1 0,1 - - - - - - . 10:24908539-24908539 A intron_variant MODIFIER PRTFDC1 56952 Transcript NM_020200.7 protein_coding - 3/8 - - - - - - - rs76661123,COSV60778534 - -1 - EntrezGene HGNC:23333 ENST00000320152.11 - - - - RefSeq - G G - - - 0.0204 - 0,1 0,1 - - - - - - . 10:24950454-24950454 G intron_variant MODIFIER PRTFDC1 ENSG00000099256 Transcript ENST00000320152.11 protein_coding - 1/8 - - - - - - - rs3000491,COSV60773189 - -1 - HGNC HGNC:23333 NM_020200.7 - 1 P1 - Ensembl - T T - - - 0.3337 - 0,1 0,1 - - - - - - . 10:24950454-24950454 G intron_variant MODIFIER PRTFDC1 ENSG00000099256 Transcript ENST00000376376.3 protein_coding - 1/3 - - - - - - - rs3000491,COSV60773189 - -1 - HGNC HGNC:23333 - - 2 - - Ensembl - T T - - - 0.3337 - 0,1 0,1 - - - - - - . 10:24950454-24950454 G intron_variant MODIFIER PRTFDC1 ENSG00000099256 Transcript ENST00000376378.5 protein_coding - 1/7 - - - - - - - rs3000491,COSV60773189 - -1 - HGNC HGNC:23333 - - 2 - - Ensembl - T T - - - 0.3337 - 0,1 0,1 - - - - - - . 10:24950454-24950454 G upstream_gene_variant MODIFIER - ENSG00000273107 Transcript ENST00000610158.1 lncRNA - - - - - - - - - rs3000491,COSV60773189 2787 1 - - - - - - - - Ensembl - T T - - - 0.3337 - 0,1 0,1 - - - - - - . 10:24950454-24950454 G intron_variant MODIFIER PRTFDC1 56952 Transcript NM_001282786.2 protein_coding - 1/7 - - - - - - - rs3000491,COSV60773189 - -1 - EntrezGene HGNC:23333 - - - - - RefSeq - T T - - - 0.3337 - 0,1 0,1 - - - - - - . 10:24950454-24950454 G intron_variant MODIFIER PRTFDC1 56952 Transcript NM_020200.7 protein_coding - 1/8 - - - - - - - rs3000491,COSV60773189 - -1 - EntrezGene HGNC:23333 ENST00000320152.11 - - - - RefSeq - T T - - - 0.3337 - 0,1 0,1 - - - - - - . 10:24950454-24950454 G upstream_gene_variant MODIFIER THNSL1 79896 Transcript XM_017016665.2 protein_coding - - - - - - - - - rs3000491,COSV60773189 1910 1 - EntrezGene - - - - - - RefSeq - T T - - - 0.3337 - 0,1 0,1 - - - - - - . 10:24950454-24950454 G upstream_gene_variant MODIFIER THNSL1 79896 Transcript XM_047425764.1 protein_coding - - - - - - - - - rs3000491,COSV60773189 4834 1 - EntrezGene - - - - - - RefSeq - T T - - - 0.3337 - 0,1 0,1 - - - - - - . 10:26501180-26501180 C 3_prime_UTR_variant MODIFIER APBB1IP ENSG00000077420 Transcript ENST00000356785.4 protein_coding 5/5 - - - 755 - - - - rs787039,COSV63305024 - 1 - HGNC HGNC:17379 - - 1 - - Ensembl - T T - - - 0.0405 - 0,1 0,1 - - - - - - . 10:26501180-26501180 C intron_variant MODIFIER APBB1IP ENSG00000077420 Transcript ENST00000376236.9 protein_coding - 5/14 - - - - - - - rs787039,COSV63305024 - 1 - HGNC HGNC:17379 NM_019043.4 - 5 P1 - Ensembl - T T - - - 0.0405 - 0,1 0,1 - - - - - - . 10:26501180-26501180 C intron_variant MODIFIER APBB1IP 54518 Transcript NM_019043.4 protein_coding - 5/14 - - - - - - - rs787039,COSV63305024 - 1 - EntrezGene HGNC:17379 ENST00000376236.9 - - - - RefSeq - T T - - - 0.0405 - 0,1 0,1 - - - - - - . 10:26501180-26501180 C intron_variant MODIFIER APBB1IP 54518 Transcript XM_011519514.3 protein_coding - 5/13 - - - - - - - rs787039,COSV63305024 - 1 - EntrezGene HGNC:17379 - - - - - RefSeq - T T - - - 0.0405 - 0,1 0,1 - - - - - - . 10:26650625-26650625 C non_coding_transcript_exon_variant MODIFIER - ENSG00000290423 Transcript ENST00000413288.1 lncRNA 2/3 - - - 334 - - - - rs11819540 - 1 - - - - - 3 - - Ensembl - G G - - - 0.0617 - - - - - - - - - . 10:26650625-26650625 C non_coding_transcript_exon_variant MODIFIER - ENSG00000290423 Transcript ENST00000423917.5 lncRNA 4/5 - - - 672 - - - - rs11819540 - 1 - - - - - 5 - - Ensembl - G G - - - 0.0617 - - - - - - - - - . 10:26650625-26650625 C non_coding_transcript_exon_variant MODIFIER - ENSG00000290423 Transcript ENST00000434458.5 lncRNA 3/4 - - - 458 - - - - rs11819540 - 1 - - - - - 3 - - Ensembl - G G - - - 0.0617 - - - - - - - - - . 10:26650625-26650625 C non_coding_transcript_exon_variant MODIFIER FAM238B ENSG00000231976 Transcript ENST00000612040.2 transcribed_unprocessed_pseudogene 1/2 - - - 72 - - - - rs11819540 - 1 - HGNC HGNC:44917 - - - - - Ensembl - G G - - - 0.0617 - - - - - - - - - . 10:26650625-26650625 C non_coding_transcript_exon_variant MODIFIER FAM238B 731789 Transcript NR_026794.1 lncRNA 4/5 - - - 5548 - - - - rs11819540 - 1 - EntrezGene HGNC:44917 - - - - - RefSeq - G G OK - - 0.0617 - - - - - - - - - . 10:26650625-26650625 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000399050 open_chromatin_region - - - - - - - - - rs11819540 - - - - - - - - - - - - - - - - - 0.0617 - - - - - - - - - . 10:26704799-26704799 A intron_variant MODIFIER PDSS1 ENSG00000148459 Transcript ENST00000376215.10 protein_coding - 3/11 - - - - - - - rs6482571,COSV66059412 - 1 - HGNC HGNC:17759 NM_014317.5 - 1 P1 - Ensembl - G G - - - 0.3247 benign 0,1 1,1 - - - - - - . 10:26704799-26704799 A upstream_gene_variant MODIFIER PDSS1 ENSG00000148459 Transcript ENST00000473224.1 protein_coding_CDS_not_defined - - - - - - - - - rs6482571,COSV66059412 509 1 - HGNC HGNC:17759 - - 5 - - Ensembl - G G - - - 0.3247 benign 0,1 1,1 - - - - - - . 10:26704799-26704799 A intron_variant MODIFIER PDSS1 23590 Transcript NM_001321978.2 protein_coding - 3/9 - - - - - - - rs6482571,COSV66059412 - 1 - EntrezGene HGNC:17759 - - - - - RefSeq - G G - - - 0.3247 benign 0,1 1,1 - - - - - - . 10:26704799-26704799 A intron_variant MODIFIER PDSS1 23590 Transcript NM_001321979.2 protein_coding - 3/11 - - - - - - - rs6482571,COSV66059412 - 1 - EntrezGene HGNC:17759 - - - - - RefSeq - G G - - - 0.3247 benign 0,1 1,1 - - - - - - . 10:26704799-26704799 A intron_variant MODIFIER PDSS1 23590 Transcript NM_014317.5 protein_coding - 3/11 - - - - - - - rs6482571,COSV66059412 - 1 - EntrezGene HGNC:17759 ENST00000376215.10 - - - - RefSeq - G G - - - 0.3247 benign 0,1 1,1 - - - - - - . 10:26704799-26704799 A upstream_gene_variant MODIFIER PDSS1 23590 Transcript XM_011519437.4 protein_coding - - - - - - - - - rs6482571,COSV66059412 2401 1 - EntrezGene HGNC:17759 - - - - - RefSeq - G G - - - 0.3247 benign 0,1 1,1 - - - - - - . 10:26704799-26704799 A intron_variant MODIFIER PDSS1 23590 Transcript XM_017016011.3 protein_coding - 2/9 - - - - - - - rs6482571,COSV66059412 - 1 - EntrezGene HGNC:17759 - - - - - RefSeq - G G - - - 0.3247 benign 0,1 1,1 - - - - - - . 10:26704799-26704799 A intron_variant MODIFIER PDSS1 23590 Transcript XM_024447922.2 protein_coding - 3/10 - - - - - - - rs6482571,COSV66059412 - 1 - EntrezGene HGNC:17759 - - - - - RefSeq - G G - - - 0.3247 benign 0,1 1,1 - - - - - - . 10:26704799-26704799 A intron_variant MODIFIER PDSS1 23590 Transcript XM_047424933.1 protein_coding - 3/8 - - - - - - - rs6482571,COSV66059412 - 1 - EntrezGene HGNC:17759 - - - - - RefSeq - G G - - - 0.3247 benign 0,1 1,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 ENSG00000136754 Transcript ENST00000346832.10 protein_coding - 7/11 - - - - - - - rs75653529,COSV61015838 - -1 - HGNC HGNC:11320 - - 2 - - Ensembl - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 ENSG00000136754 Transcript ENST00000359188.8 protein_coding - 6/10 - - - - - - - rs75653529,COSV61015838 - -1 - HGNC HGNC:11320 - - 1 - - Ensembl - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 ENSG00000136754 Transcript ENST00000376137.9 protein_coding - 6/9 - - - - - - - rs75653529,COSV61015838 - -1 - HGNC HGNC:11320 - - 1 - - Ensembl - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 ENSG00000136754 Transcript ENST00000376138.7 protein_coding - 6/9 - - - - - - - rs75653529,COSV61015838 - -1 - HGNC HGNC:11320 - - 1 - - Ensembl - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 ENSG00000136754 Transcript ENST00000376139.6 protein_coding - 5/9 - - - - - - - rs75653529,COSV61015838 - -1 - HGNC HGNC:11320 - - 1 - - Ensembl - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 ENSG00000136754 Transcript ENST00000376140.4 protein_coding - 6/10 - - - - - - - rs75653529,COSV61015838 - -1 - HGNC HGNC:11320 NM_001012750.3 - 5 - - Ensembl - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 ENSG00000136754 Transcript ENST00000376142.6 protein_coding - 6/11 - - - - - - - rs75653529,COSV61015838 - -1 - HGNC HGNC:11320 - - 1 - - Ensembl - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 ENSG00000136754 Transcript ENST00000376160.5 protein_coding - 5/9 - - - - - - - rs75653529,COSV61015838 - -1 - HGNC HGNC:11320 - - 5 - - Ensembl - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 ENSG00000136754 Transcript ENST00000376166.5 protein_coding - 5/8 - - - - - - - rs75653529,COSV61015838 - -1 - HGNC HGNC:11320 - - 1 - - Ensembl - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 ENSG00000136754 Transcript ENST00000376170.8 protein_coding - 6/9 - - - - - - - rs75653529,COSV61015838 - -1 - HGNC HGNC:11320 - - 1 - - Ensembl - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 ENSG00000136754 Transcript ENST00000490841.7 protein_coding - 4/6 - - - - - - - rs75653529,COSV61015838 - -1 - HGNC HGNC:11320 - - 2 - - Ensembl - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 ENSG00000136754 Transcript ENST00000536334.5 protein_coding - 6/8 - - - - - - - rs75653529,COSV61015838 - -1 - HGNC HGNC:11320 - - 1 P1 - Ensembl - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001012750.3 protein_coding - 6/10 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 ENST00000376140.4 - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001012751.3 protein_coding - 6/9 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001012752.3 protein_coding - 5/9 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001178116.2 protein_coding - 7/11 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001178119.2 protein_coding - 6/10 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001178120.2 protein_coding - 6/9 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001178121.2 protein_coding - 5/8 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001178122.2 protein_coding - 6/9 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001178123.2 protein_coding - 6/8 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001178124.2 protein_coding - 5/7 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001178125.2 protein_coding - 4/6 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001348029.2 protein_coding - 6/11 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001348030.2 protein_coding - 5/8 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001348031.2 protein_coding - 6/9 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001348032.2 protein_coding - 6/10 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001348033.2 protein_coding - 6/10 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_001348034.2 protein_coding - 6/10 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript NM_005470.4 protein_coding - 6/11 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant,non_coding_transcript_variant MODIFIER ABI1 10006 Transcript NR_145410.2 misc_RNA - 6/11 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript XM_005252332.5 protein_coding - 5/10 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript XM_005252333.5 protein_coding - 5/9 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript XM_011519289.3 protein_coding - 6/8 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript XM_017015459.2 protein_coding - 6/7 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript XM_047424404.1 protein_coding - 5/10 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript XM_047424405.1 protein_coding - 5/9 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript XM_047424406.1 protein_coding - 5/9 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript XM_047424407.1 protein_coding - 5/8 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript XM_047424408.1 protein_coding - 5/6 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant MODIFIER ABI1 10006 Transcript XM_047424409.1 protein_coding - 6/7 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:26768826-26768826 C intron_variant,non_coding_transcript_variant MODIFIER ABI1 10006 Transcript XR_007061931.1 misc_RNA - 6/8 - - - - - - - rs75653529,COSV61015838 - -1 - EntrezGene HGNC:11320 - - - - - RefSeq - T T - - - 0.0811 - 0,1 0,1 - - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000376087.5 protein_coding 31/34 - - - 4710 4542 1514 F/L ttT/ttA rs2274741,COSV65774511 - -1 - HGNC HGNC:29186 NM_014915.3 - 5 A2 - Ensembl - A A - tolerated(1) benign(0) 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000436985.7 protein_coding 31/34 - - - 4698 4539 1513 F/L ttT/ttA rs2274741,COSV65774511 - -1 - HGNC HGNC:29186 - - 1 P4 - Ensembl - A A - tolerated(1) benign(0) 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000445828.5 protein_coding 1/6 - - - 4 6 2 F/L ttT/ttA rs2274741,COSV65774511 - -1 cds_start_NF HGNC HGNC:29186 - - 5 - - Ensembl - A A - tolerated(1) benign(0) 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant,NMD_transcript_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000674670.1 nonsense_mediated_decay 1/6 - - - 32 33 11 F/L ttT/ttA rs2274741,COSV65774511 - -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - A A - tolerated(1) benign(0) 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000675116.1 nonsense_mediated_decay 12/15 - - - 2400 - - - - rs2274741,COSV65774511 - -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T upstream_gene_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000675439.1 nonsense_mediated_decay - - - - - - - - - rs2274741,COSV65774511 134 -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant,NMD_transcript_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000675936.1 nonsense_mediated_decay 8/13 - - - 958 960 320 F/L ttT/ttA rs2274741,COSV65774511 - -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - A A - tolerated(1) benign(0) 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T intron_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000676280.1 protein_coding - 2/3 - - - - - - - rs2274741,COSV65774511 - -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript NM_001256053.2 protein_coding 31/34 - - - 4707 4539 1513 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript NM_014915.3 protein_coding 31/34 - - - 4710 4542 1514 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 ENST00000376087.5 - - - - RefSeq - A A - tolerated(1) benign(0) 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_006717423.3 protein_coding 32/35 - - - 5796 5628 1876 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_006717425.5 protein_coding 32/35 - - - 5796 5628 1876 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_011519416.3 protein_coding 32/35 - - - 5796 5628 1876 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_017015928.2 protein_coding 32/40 - - - 5796 5628 1876 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_017015929.2 protein_coding 33/41 - - - 5784 5616 1872 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_017015932.2 protein_coding 32/36 - - - 5796 5628 1876 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424821.1 protein_coding 32/41 - - - 5796 5628 1876 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424822.1 protein_coding 32/36 - - - 5796 5628 1876 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424824.1 protein_coding 32/35 - - - 5793 5625 1875 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424825.1 protein_coding 32/36 - - - 5796 5628 1876 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424826.1 protein_coding 31/34 - - - 5505 5337 1779 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424827.1 protein_coding 30/33 - - - 4608 4440 1480 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424828.1 protein_coding 31/34 - - - 4710 4542 1514 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424830.1 protein_coding 31/35 - - - 4707 4539 1513 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27014676-27014676 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424832.1 protein_coding 30/34 - - - 4608 4440 1480 F/L ttT/ttA rs2274741,COSV65774511 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.3173 benign 0,1 1,1 25741868,16385451 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000376087.5 protein_coding 27/34 - - - 4081 3913 1305 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - HGNC HGNC:29186 NM_014915.3 - 5 A2 - Ensembl - C C - tolerated(1) benign(0) 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000436985.7 protein_coding 27/34 - - - 4069 3910 1304 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - HGNC HGNC:29186 - - 1 P4 - Ensembl - C C - tolerated(1) benign(0) 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000675116.1 nonsense_mediated_decay 8/15 - - - 1771 - - - - rs10829163,COSV65774858 - -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant,NMD_transcript_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000675936.1 nonsense_mediated_decay 4/13 - - - 329 331 111 V/I Gtc/Atc rs10829163,COSV65774858 - -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - C C - tolerated(1) benign(0.001) 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript NM_001256053.2 protein_coding 27/34 - - - 4078 3910 1304 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript NM_014915.3 protein_coding 27/34 - - - 4081 3913 1305 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 ENST00000376087.5 - - - - RefSeq - C C - tolerated(1) benign(0) 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_006717423.3 protein_coding 28/35 - - - 5167 4999 1667 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_006717425.5 protein_coding 28/35 - - - 5167 4999 1667 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_011519416.3 protein_coding 28/35 - - - 5167 4999 1667 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_017015928.2 protein_coding 28/40 - - - 5167 4999 1667 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_017015929.2 protein_coding 29/41 - - - 5155 4987 1663 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_017015932.2 protein_coding 28/36 - - - 5167 4999 1667 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424821.1 protein_coding 28/41 - - - 5167 4999 1667 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424822.1 protein_coding 28/36 - - - 5167 4999 1667 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424824.1 protein_coding 28/35 - - - 5164 4996 1666 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424825.1 protein_coding 28/36 - - - 5167 4999 1667 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424826.1 protein_coding 28/34 - - - 5167 4999 1667 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424827.1 protein_coding 26/33 - - - 3979 3811 1271 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424828.1 protein_coding 27/34 - - - 4081 3913 1305 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424830.1 protein_coding 27/35 - - - 4078 3910 1304 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T downstream_gene_variant MODIFIER ANKRD26 22852 Transcript XM_047424831.1 protein_coding - - - - - - - - - rs10829163,COSV65774858 1483 -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27028911-27028911 T missense_variant MODERATE ANKRD26 22852 Transcript XM_047424832.1 protein_coding 26/34 - - - 3979 3811 1271 V/I Gtc/Atc rs10829163,COSV65774858 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.3173 benign 0,1 1,1 25741868,16385451,29273807 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000376087.5 protein_coding 25/34 - - - 3826 3658 1220 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - HGNC HGNC:29186 NM_014915.3 - 5 A2 - Ensembl - C C - tolerated(0.09) benign(0.401) 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000436985.7 protein_coding 25/34 - - - 3814 3655 1219 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - HGNC HGNC:29186 - - 1 P4 - Ensembl - C C - tolerated(0.09) benign(0.226) 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G downstream_gene_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000490015.1 protein_coding_CDS_not_defined - - - - - - - - - rs12572862,COSV65774350 4622 -1 - HGNC HGNC:29186 - - 3 - - Ensembl - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant,NMD_transcript_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000675116.1 nonsense_mediated_decay 5/15 - - - 1308 1309 437 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - C C - tolerated(0.18) benign(0.014) 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G downstream_gene_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000675349.1 protein_coding_CDS_not_defined - - - - - - - - - rs12572862,COSV65774350 1533 -1 - HGNC HGNC:29186 - - - - - Ensembl - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant,NMD_transcript_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000675936.1 nonsense_mediated_decay 2/13 - - - 74 76 26 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - C C - tolerated(0.09) benign(0.021) 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G downstream_gene_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000676232.1 nonsense_mediated_decay - - - - - - - - - rs12572862,COSV65774350 2304 -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G downstream_gene_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000676420.1 nonsense_mediated_decay - - - - - - - - - rs12572862,COSV65774350 2299 -1 - HGNC HGNC:29186 - - - - - Ensembl - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript NM_001256053.2 protein_coding 25/34 - - - 3823 3655 1219 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - tolerated(0.09) benign(0.226) 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript NM_014915.3 protein_coding 25/34 - - - 3826 3658 1220 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 ENST00000376087.5 - - - - RefSeq - C C - tolerated(0.09) benign(0.401) 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_006717423.3 protein_coding 26/35 - - - 4912 4744 1582 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_006717425.5 protein_coding 26/35 - - - 4912 4744 1582 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_011519416.3 protein_coding 26/35 - - - 4912 4744 1582 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_017015928.2 protein_coding 26/40 - - - 4912 4744 1582 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_017015929.2 protein_coding 27/41 - - - 4900 4732 1578 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_017015932.2 protein_coding 26/36 - - - 4912 4744 1582 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_047424821.1 protein_coding 26/41 - - - 4912 4744 1582 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_047424822.1 protein_coding 26/36 - - - 4912 4744 1582 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_047424824.1 protein_coding 26/35 - - - 4909 4741 1581 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_047424825.1 protein_coding 26/36 - - - 4912 4744 1582 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_047424826.1 protein_coding 26/34 - - - 4912 4744 1582 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_047424827.1 protein_coding 24/33 - - - 3724 3556 1186 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_047424828.1 protein_coding 25/34 - - - 3826 3658 1220 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_047424830.1 protein_coding 25/35 - - - 3823 3655 1219 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_047424831.1 protein_coding 26/27 - - - 4912 4744 1582 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27033374-27033374 G missense_variant MODERATE ANKRD26 22852 Transcript XM_047424832.1 protein_coding 24/34 - - - 3724 3556 1186 V/L Gtt/Ctt rs12572862,COSV65774350 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - C C - - - 0.0673 benign 0,1 1,1 25741868,29113320,31919106 - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000376087.5 protein_coding 16/34 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - HGNC HGNC:29186 NM_014915.3 - 5 A2 - Ensembl - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000436985.7 protein_coding 16/34 - - - 1749-1751 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - HGNC HGNC:29186 - - 1 P4 - Ensembl - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000675187.1 nonsense_mediated_decay 13/18 - - - 1221-1223 - - - - COSV65776540 - -1 - HGNC HGNC:29186 - - - - - Ensembl - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - upstream_gene_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000675349.1 protein_coding_CDS_not_defined - - - - - - - - - COSV65776540 938 -1 - HGNC HGNC:29186 - - - - - Ensembl - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000675846.1 nonsense_mediated_decay 15/20 - - - 1496-1498 - - - - COSV65776540 - -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion,NMD_transcript_variant MODERATE ANKRD26 ENSG00000107890 Transcript ENST00000676232.1 nonsense_mediated_decay 15/24 - - - 1298-1300 1299-1301 433-434 SE/S tcAGAa/tca COSV65776540 - -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000676420.1 nonsense_mediated_decay 17/25 - - - 1905-1907 - - - - COSV65776540 - -1 - HGNC HGNC:29186 - - - - - Ensembl - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript NM_001256053.2 protein_coding 16/34 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript NM_014915.3 protein_coding 16/34 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 ENST00000376087.5 - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_006717423.3 protein_coding 16/35 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_006717425.5 protein_coding 16/35 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_011519416.3 protein_coding 16/35 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_017015928.2 protein_coding 16/40 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_017015929.2 protein_coding 17/41 - - - 1746-1748 1578-1580 526-527 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_017015932.2 protein_coding 16/36 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_047424821.1 protein_coding 16/41 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_047424822.1 protein_coding 16/36 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_047424824.1 protein_coding 16/35 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_047424825.1 protein_coding 16/36 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_047424826.1 protein_coding 16/34 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_047424827.1 protein_coding 15/33 - - - 1659-1661 1491-1493 497-498 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_047424828.1 protein_coding 16/34 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_047424830.1 protein_coding 16/35 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_047424831.1 protein_coding 16/27 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_047424832.1 protein_coding 15/34 - - - 1659-1661 1491-1493 497-498 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27053356-27053365 - inframe_deletion MODERATE ANKRD26 22852 Transcript XM_047424833.1 protein_coding 16/20 - - - 1758-1760 1590-1592 530-531 SE/S tcAGAa/tca COSV65776540 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - TCT TCT - - - - - 1 1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000376087.5 protein_coding - 14/33 - - - - - - - rs2297144,COSV65799687 - -1 - HGNC HGNC:29186 NM_014915.3 - 5 A2 - Ensembl - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000436985.7 protein_coding - 14/33 - - - - - - - rs2297144,COSV65799687 - -1 - HGNC HGNC:29186 - - 1 P4 - Ensembl - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000674697.1 protein_coding - 12/12 - - - - - - - rs2297144,COSV65799687 - -1 cds_start_NF,cds_end_NF HGNC HGNC:29186 - - - - - Ensembl - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant,NMD_transcript_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000675187.1 nonsense_mediated_decay - 11/17 - - - - - - - rs2297144,COSV65799687 - -1 - HGNC HGNC:29186 - - - - - Ensembl - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant,NMD_transcript_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000675846.1 nonsense_mediated_decay - 13/19 - - - - - - - rs2297144,COSV65799687 - -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant,NMD_transcript_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000676232.1 nonsense_mediated_decay - 13/23 - - - - - - - rs2297144,COSV65799687 - -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C downstream_gene_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000676299.1 nonsense_mediated_decay - - - - - - - - - rs2297144,COSV65799687 2598 -1 - HGNC HGNC:29186 - - - - - Ensembl - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C downstream_gene_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000676361.1 nonsense_mediated_decay - - - - - - - - - rs2297144,COSV65799687 792 -1 cds_start_NF HGNC HGNC:29186 - - - - - Ensembl - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant,NMD_transcript_variant MODIFIER ANKRD26 ENSG00000107890 Transcript ENST00000676420.1 nonsense_mediated_decay - 15/24 - - - - - - - rs2297144,COSV65799687 - -1 - HGNC HGNC:29186 - - - - - Ensembl - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript NM_001256053.2 protein_coding - 14/33 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript NM_014915.3 protein_coding - 14/33 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 ENST00000376087.5 - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_006717423.3 protein_coding - 14/34 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_006717425.5 protein_coding - 14/34 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_011519416.3 protein_coding - 14/34 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_017015928.2 protein_coding - 14/39 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_017015929.2 protein_coding - 15/40 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_017015932.2 protein_coding - 14/35 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_047424821.1 protein_coding - 14/40 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_047424822.1 protein_coding - 14/35 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_047424824.1 protein_coding - 14/34 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_047424825.1 protein_coding - 14/35 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_047424826.1 protein_coding - 14/33 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_047424827.1 protein_coding - 13/32 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_047424828.1 protein_coding - 14/33 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_047424830.1 protein_coding - 14/34 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_047424831.1 protein_coding - 14/26 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_047424832.1 protein_coding - 13/33 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27060438-27060438 C intron_variant MODIFIER ANKRD26 22852 Transcript XM_047424833.1 protein_coding - 14/19 - - - - - - - rs2297144,COSV65799687 - -1 - EntrezGene HGNC:29186 - - - - - RefSeq - A A - - - 0.0665 benign 0,1 1,1 - - - - - - . 10:27111932-27111932 A 3_prime_UTR_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000326799.7 protein_coding 20/20 - - - 2516 - - - - rs9833 - -1 - HGNC HGNC:12843 - - 1 - - Ensembl - G G - - - 0.8724 benign - 1 18091754 - - - - - . 10:27111932-27111932 A 3_prime_UTR_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000376016.8 protein_coding 19/19 - - - 2370 - - - - rs9833 - -1 - HGNC HGNC:12843 NM_014263.4 - 1 P1 - Ensembl - G G - - - 0.8724 benign - 1 18091754 - - - - - . 10:27111932-27111932 A 3_prime_UTR_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000613434.4 protein_coding 18/18 - - - 2307 - - - - rs9833 - -1 - HGNC HGNC:12843 - - 2 - - Ensembl - G G - - - 0.8724 benign - 1 18091754 - - - - - . 10:27111932-27111932 A 3_prime_UTR_variant MODIFIER YME1L1 10730 Transcript NM_001253866.2 protein_coding 18/18 - - - 2271 - - - - rs9833 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - G G - - - 0.8724 benign - 1 18091754 - - - - - . 10:27111932-27111932 A 3_prime_UTR_variant MODIFIER YME1L1 10730 Transcript NM_014263.4 protein_coding 19/19 - - - 2370 - - - - rs9833 - -1 - EntrezGene HGNC:12843 ENST00000376016.8 - - - - RefSeq - G G - - - 0.8724 benign - 1 18091754 - - - - - . 10:27111932-27111932 A 3_prime_UTR_variant MODIFIER YME1L1 10730 Transcript NM_139312.3 protein_coding 20/20 - - - 2541 - - - - rs9833 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - G G - - - 0.8724 benign - 1 18091754 - - - - - . 10:27111932-27111932 A 3_prime_UTR_variant MODIFIER YME1L1 10730 Transcript XM_011519300.4 protein_coding 19/19 - - - 2442 - - - - rs9833 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - G G - - - 0.8724 benign - 1 18091754 - - - - - . 10:27116167-27116167 G intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000326799.7 protein_coding - 17/19 - - - - - - - rs2297152,COSV58760877 - -1 - HGNC HGNC:12843 - - 1 - - Ensembl - A A - - - 0.3470 benign 0,1 1,1 - - - - - - . 10:27116167-27116167 G intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000376016.8 protein_coding - 16/18 - - - - - - - rs2297152,COSV58760877 - -1 - HGNC HGNC:12843 NM_014263.4 - 1 P1 - Ensembl - A A - - - 0.3470 benign 0,1 1,1 - - - - - - . 10:27116167-27116167 G intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000613434.4 protein_coding - 15/17 - - - - - - - rs2297152,COSV58760877 - -1 - HGNC HGNC:12843 - - 2 - - Ensembl - A A - - - 0.3470 benign 0,1 1,1 - - - - - - . 10:27116167-27116167 G intron_variant MODIFIER YME1L1 10730 Transcript NM_001253866.2 protein_coding - 15/17 - - - - - - - rs2297152,COSV58760877 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - A A - - - 0.3470 benign 0,1 1,1 - - - - - - . 10:27116167-27116167 G intron_variant MODIFIER YME1L1 10730 Transcript NM_014263.4 protein_coding - 16/18 - - - - - - - rs2297152,COSV58760877 - -1 - EntrezGene HGNC:12843 ENST00000376016.8 - - - - RefSeq - A A - - - 0.3470 benign 0,1 1,1 - - - - - - . 10:27116167-27116167 G intron_variant MODIFIER YME1L1 10730 Transcript NM_139312.3 protein_coding - 17/19 - - - - - - - rs2297152,COSV58760877 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - A A - - - 0.3470 benign 0,1 1,1 - - - - - - . 10:27116167-27116167 G intron_variant MODIFIER YME1L1 10730 Transcript XM_011519300.4 protein_coding - 16/18 - - - - - - - rs2297152,COSV58760877 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - A A - - - 0.3470 benign 0,1 1,1 - - - - - - . 10:27123740-27123740 T intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000326799.7 protein_coding - 10/19 - - - - - - - rs2274743,COSV58760884 - -1 - HGNC HGNC:12843 - - 1 - - Ensembl - A A - - - 0.3401 benign 0,1 1,1 - - - - - - . 10:27123740-27123740 T intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000376016.8 protein_coding - 9/18 - - - - - - - rs2274743,COSV58760884 - -1 - HGNC HGNC:12843 NM_014263.4 - 1 P1 - Ensembl - A A - - - 0.3401 benign 0,1 1,1 - - - - - - . 10:27123740-27123740 T intron_variant,non_coding_transcript_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000463270.1 protein_coding_CDS_not_defined - 6/6 - - - - - - - rs2274743,COSV58760884 - -1 - HGNC HGNC:12843 - - 3 - - Ensembl - A A - - - 0.3401 benign 0,1 1,1 - - - - - - . 10:27123740-27123740 T intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000491542.6 protein_coding - 6/6 - - - - - - - rs2274743,COSV58760884 - -1 cds_end_NF HGNC HGNC:12843 - - 2 - - Ensembl - A A - - - 0.3401 benign 0,1 1,1 - - - - - - . 10:27123740-27123740 T intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000613434.4 protein_coding - 8/17 - - - - - - - rs2274743,COSV58760884 - -1 - HGNC HGNC:12843 - - 2 - - Ensembl - A A - - - 0.3401 benign 0,1 1,1 - - - - - - . 10:27123740-27123740 T intron_variant MODIFIER YME1L1 10730 Transcript NM_001253866.2 protein_coding - 8/17 - - - - - - - rs2274743,COSV58760884 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - A A - - - 0.3401 benign 0,1 1,1 - - - - - - . 10:27123740-27123740 T intron_variant MODIFIER YME1L1 10730 Transcript NM_014263.4 protein_coding - 9/18 - - - - - - - rs2274743,COSV58760884 - -1 - EntrezGene HGNC:12843 ENST00000376016.8 - - - - RefSeq - A A - - - 0.3401 benign 0,1 1,1 - - - - - - . 10:27123740-27123740 T intron_variant MODIFIER YME1L1 10730 Transcript NM_139312.3 protein_coding - 10/19 - - - - - - - rs2274743,COSV58760884 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - A A - - - 0.3401 benign 0,1 1,1 - - - - - - . 10:27123740-27123740 T intron_variant MODIFIER YME1L1 10730 Transcript XM_011519300.4 protein_coding - 9/18 - - - - - - - rs2274743,COSV58760884 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - A A - - - 0.3401 benign 0,1 1,1 - - - - - - . 10:27145554-27145554 A synonymous_variant LOW YME1L1 ENSG00000136758 Transcript ENST00000326799.7 protein_coding 4/20 - - - 525 376 126 L Cta/Tta rs2274634,COSV58759196,COSV58760903 - -1 - HGNC HGNC:12843 - - 1 - - Ensembl - G G - - - 0.3488 benign 0,1,1 1,1,1 - - - - - - . 10:27145554-27145554 A synonymous_variant LOW YME1L1 ENSG00000136758 Transcript ENST00000376016.8 protein_coding 3/19 - - - 379 205 69 L Cta/Tta rs2274634,COSV58759196,COSV58760903 - -1 - HGNC HGNC:12843 NM_014263.4 - 1 P1 - Ensembl - G G - - - 0.3488 benign 0,1,1 1,1,1 - - - - - - . 10:27145554-27145554 A synonymous_variant LOW YME1L1 ENSG00000136758 Transcript ENST00000396296.7 protein_coding 4/8 - - - 421 181 61 L Cta/Tta rs2274634,COSV58759196,COSV58760903 - -1 cds_end_NF HGNC HGNC:12843 - - 5 - - Ensembl - G G - - - 0.3488 benign 0,1,1 1,1,1 - - - - - - . 10:27145554-27145554 A synonymous_variant LOW YME1L1 ENSG00000136758 Transcript ENST00000427324.5 protein_coding 3/7 - - - 221 205 69 L Cta/Tta rs2274634,COSV58759196,COSV58760903 - -1 cds_end_NF HGNC HGNC:12843 - - 3 - - Ensembl - G G - - - 0.3488 benign 0,1,1 1,1,1 - - - - - - . 10:27145554-27145554 A 3_prime_UTR_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000477432.1 protein_coding 3/3 - - - 3339 - - - - rs2274634,COSV58759196,COSV58760903 - -1 - HGNC HGNC:12843 - - 1 - - Ensembl - G G - - - 0.3488 benign 0,1,1 1,1,1 - - - - - - . 10:27145554-27145554 A intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000491542.6 protein_coding - 2/6 - - - - - - - rs2274634,COSV58759196,COSV58760903 - -1 cds_end_NF HGNC HGNC:12843 - - 2 - - Ensembl - G G - - - 0.3488 benign 0,1,1 1,1,1 - - - - - - . 10:27145554-27145554 A synonymous_variant LOW YME1L1 ENSG00000136758 Transcript ENST00000613434.4 protein_coding 3/18 - - - 415 205 69 L Cta/Tta rs2274634,COSV58759196,COSV58760903 - -1 - HGNC HGNC:12843 - - 2 - - Ensembl - G G - - - 0.3488 benign 0,1,1 1,1,1 - - - - - - . 10:27145554-27145554 A synonymous_variant LOW YME1L1 10730 Transcript NM_001253866.2 protein_coding 3/18 - - - 379 205 69 L Cta/Tta rs2274634,COSV58759196,COSV58760903 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - G G - - - 0.3488 benign 0,1,1 1,1,1 - - - - - - . 10:27145554-27145554 A synonymous_variant LOW YME1L1 10730 Transcript NM_014263.4 protein_coding 3/19 - - - 379 205 69 L Cta/Tta rs2274634,COSV58759196,COSV58760903 - -1 - EntrezGene HGNC:12843 ENST00000376016.8 - - - - RefSeq - G G - - - 0.3488 benign 0,1,1 1,1,1 - - - - - - . 10:27145554-27145554 A synonymous_variant LOW YME1L1 10730 Transcript NM_139312.3 protein_coding 4/20 - - - 550 376 126 L Cta/Tta rs2274634,COSV58759196,COSV58760903 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - G G - - - 0.3488 benign 0,1,1 1,1,1 - - - - - - . 10:27145554-27145554 A synonymous_variant LOW YME1L1 10730 Transcript XM_011519300.4 protein_coding 4/19 - - - 550 376 126 L Cta/Tta rs2274634,COSV58759196,COSV58760903 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - G G - - - 0.3488 benign 0,1,1 1,1,1 - - - - - - . 10:27149065-27149065 T intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000326799.7 protein_coding - 1/19 - - - - - - - rs10764675,COSV58760906 - -1 - HGNC HGNC:12843 - - 1 - - Ensembl - C C - - - 0.3472 benign 0,1 1,1 - - - - - - . 10:27149065-27149065 T intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000376016.8 protein_coding - 1/18 - - - - - - - rs10764675,COSV58760906 - -1 - HGNC HGNC:12843 NM_014263.4 - 1 P1 - Ensembl - C C - - - 0.3472 benign 0,1 1,1 - - - - - - . 10:27149065-27149065 T intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000396296.7 protein_coding - 2/7 - - - - - - - rs10764675,COSV58760906 - -1 cds_end_NF HGNC HGNC:12843 - - 5 - - Ensembl - C C - - - 0.3472 benign 0,1 1,1 - - - - - - . 10:27149065-27149065 T intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000427324.5 protein_coding - 1/6 - - - - - - - rs10764675,COSV58760906 - -1 cds_end_NF HGNC HGNC:12843 - - 3 - - Ensembl - C C - - - 0.3472 benign 0,1 1,1 - - - - - - . 10:27149065-27149065 T intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000477432.1 protein_coding - 1/2 - - - - - - - rs10764675,COSV58760906 - -1 - HGNC HGNC:12843 - - 1 - - Ensembl - C C - - - 0.3472 benign 0,1 1,1 - - - - - - . 10:27149065-27149065 T intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000491542.6 protein_coding - 1/6 - - - - - - - rs10764675,COSV58760906 - -1 cds_end_NF HGNC HGNC:12843 - - 2 - - Ensembl - C C - - - 0.3472 benign 0,1 1,1 - - - - - - . 10:27149065-27149065 T intron_variant MODIFIER YME1L1 ENSG00000136758 Transcript ENST00000613434.4 protein_coding - 1/17 - - - - - - - rs10764675,COSV58760906 - -1 - HGNC HGNC:12843 - - 2 - - Ensembl - C C - - - 0.3472 benign 0,1 1,1 - - - - - - . 10:27149065-27149065 T intron_variant MODIFIER YME1L1 10730 Transcript NM_001253866.2 protein_coding - 1/17 - - - - - - - rs10764675,COSV58760906 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - C C - - - 0.3472 benign 0,1 1,1 - - - - - - . 10:27149065-27149065 T intron_variant MODIFIER YME1L1 10730 Transcript NM_014263.4 protein_coding - 1/18 - - - - - - - rs10764675,COSV58760906 - -1 - EntrezGene HGNC:12843 ENST00000376016.8 - - - - RefSeq - C C - - - 0.3472 benign 0,1 1,1 - - - - - - . 10:27149065-27149065 T intron_variant MODIFIER YME1L1 10730 Transcript NM_139312.3 protein_coding - 1/19 - - - - - - - rs10764675,COSV58760906 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - C C - - - 0.3472 benign 0,1 1,1 - - - - - - . 10:27149065-27149065 T intron_variant MODIFIER YME1L1 10730 Transcript XM_011519300.4 protein_coding - 1/18 - - - - - - - rs10764675,COSV58760906 - -1 - EntrezGene HGNC:12843 - - - - - RefSeq - C C - - - 0.3472 benign 0,1 1,1 - - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL ENSG00000120539 Transcript ENST00000342386.10 protein_coding 8/11 - - - 1839 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - HGNC HGNC:19042 - - 2 - - Ensembl - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL ENSG00000120539 Transcript ENST00000375940.9 protein_coding 8/12 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - HGNC HGNC:19042 NM_001172303.3 - 1 A1 - Ensembl - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL ENSG00000120539 Transcript ENST00000375946.8 protein_coding 8/12 - - - 2385 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - HGNC HGNC:19042 - - 1 P4 - Ensembl - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL ENSG00000120539 Transcript ENST00000477034.2 protein_coding 1/3 - - - 798 798 266 I atC/atT rs1981296,COSV60909840 - 1 cds_start_NF HGNC HGNC:19042 - - 2 - - Ensembl - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677440.1 protein_coding - 12/12 - - - - - - - rs1981296,COSV60909840 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript NM_001172303.3 protein_coding 8/12 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 ENST00000375940.9 - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript NM_001172304.3 protein_coding 8/11 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript NM_001320756.2 protein_coding 8/13 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript NM_001320757.2 protein_coding 8/13 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript NM_001372029.1 protein_coding 9/14 - - - 1977 1299 433 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript NM_001372030.1 protein_coding 9/13 - - - 1977 1299 433 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript NM_032844.5 protein_coding 8/12 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T non_coding_transcript_exon_variant MODIFIER MASTL 84930 Transcript NR_135469.2 misc_RNA 8/11 - - - 1857 - - - - rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_005252631.5 protein_coding 8/11 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_005252632.5 protein_coding 8/10 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_006717519.5 protein_coding 8/12 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_006717520.5 protein_coding 8/12 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_011519751.3 protein_coding 2/7 - - - 887 771 257 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_017016852.3 protein_coding 8/11 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_017016853.3 protein_coding 8/13 - - - 2345 1635 545 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_017016855.3 protein_coding 8/11 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_024448243.2 protein_coding 8/11 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_024448244.2 protein_coding 8/10 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_047425916.1 protein_coding 8/12 - - - 2345 1635 545 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_047425917.1 protein_coding 8/12 - - - 2345 1635 545 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_047425918.1 protein_coding 8/11 - - - 1857 1782 594 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_047425919.1 protein_coding 8/11 - - - 2345 1635 545 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170741-27170741 T synonymous_variant LOW MASTL 84930 Transcript XM_047425920.1 protein_coding 8/11 - - - 2345 1635 545 I atC/atT rs1981296,COSV60909840 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.5046 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL ENSG00000120539 Transcript ENST00000342386.10 protein_coding 8/11 - - - 1915 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - HGNC HGNC:19042 - - 2 - - Ensembl - C C - tolerated(0.15) benign(0.121) 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL ENSG00000120539 Transcript ENST00000375940.9 protein_coding 8/12 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - HGNC HGNC:19042 NM_001172303.3 - 1 A1 - Ensembl - C C - tolerated(0.11) benign(0.056) 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL ENSG00000120539 Transcript ENST00000375946.8 protein_coding 8/12 - - - 2461 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - HGNC HGNC:19042 - - 1 P4 - Ensembl - C C - tolerated(0.13) benign(0.129) 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL ENSG00000120539 Transcript ENST00000477034.2 protein_coding 1/3 - - - 874 874 292 P/A Cca/Gca rs3802526,COSV60909850 - 1 cds_start_NF HGNC HGNC:19042 - - 2 - - Ensembl - C C - tolerated(0.1) benign(0.304) 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677440.1 protein_coding - 12/12 - - - - - - - rs3802526,COSV60909850 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript NM_001172303.3 protein_coding 8/12 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 ENST00000375940.9 - - - - RefSeq - C C - tolerated(0.11) benign(0.056) 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript NM_001172304.3 protein_coding 8/11 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - tolerated(0.15) benign(0.121) 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript NM_001320756.2 protein_coding 8/13 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - tolerated(0.13) benign(0.05) 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript NM_001320757.2 protein_coding 8/13 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - tolerated(0.13) benign(0.05) 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript NM_001372029.1 protein_coding 9/14 - - - 2053 1375 459 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - tolerated(0.13) benign(0.173) 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript NM_001372030.1 protein_coding 9/13 - - - 2053 1375 459 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - tolerated(0.13) benign(0.056) 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript NM_032844.5 protein_coding 8/12 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - tolerated(0.13) benign(0.129) 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G non_coding_transcript_exon_variant MODIFIER MASTL 84930 Transcript NR_135469.2 misc_RNA 8/11 - - - 1933 - - - - rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_005252631.5 protein_coding 8/11 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_005252632.5 protein_coding 8/10 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_006717519.5 protein_coding 8/12 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_006717520.5 protein_coding 8/12 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_011519751.3 protein_coding 2/7 - - - 963 847 283 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_017016852.3 protein_coding 8/11 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_017016853.3 protein_coding 8/13 - - - 2421 1711 571 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_017016855.3 protein_coding 8/11 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_024448243.2 protein_coding 8/11 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_024448244.2 protein_coding 8/10 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_047425916.1 protein_coding 8/12 - - - 2421 1711 571 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_047425917.1 protein_coding 8/12 - - - 2421 1711 571 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_047425918.1 protein_coding 8/11 - - - 1933 1858 620 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_047425919.1 protein_coding 8/11 - - - 2421 1711 571 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27170817-27170817 G missense_variant MODERATE MASTL 84930 Transcript XM_047425920.1 protein_coding 8/11 - - - 2421 1711 571 P/A Cca/Gca rs3802526,COSV60909850 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - C C - - - 0.1104 benign 0,1 1,1 25741868 - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL ENSG00000120539 Transcript ENST00000342386.10 protein_coding - 8/10 - - - - - - - rs6482600,COSV60909967 - 1 - HGNC HGNC:19042 - - 2 - - Ensembl - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL ENSG00000120539 Transcript ENST00000375940.9 protein_coding - 8/11 - - - - - - - rs6482600,COSV60909967 - 1 - HGNC HGNC:19042 NM_001172303.3 - 1 A1 - Ensembl - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL ENSG00000120539 Transcript ENST00000375946.8 protein_coding - 8/11 - - - - - - - rs6482600,COSV60909967 - 1 - HGNC HGNC:19042 - - 1 P4 - Ensembl - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL ENSG00000120539 Transcript ENST00000477034.2 protein_coding - 1/2 - - - - - - - rs6482600,COSV60909967 - 1 cds_start_NF HGNC HGNC:19042 - - 2 - - Ensembl - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677440.1 protein_coding - 12/12 - - - - - - - rs6482600,COSV60909967 - -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript NM_001172303.3 protein_coding - 8/11 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 ENST00000375940.9 - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript NM_001172304.3 protein_coding - 8/10 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript NM_001320756.2 protein_coding - 8/12 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript NM_001320757.2 protein_coding - 8/12 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript NM_001372029.1 protein_coding - 9/13 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript NM_001372030.1 protein_coding - 9/12 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript NM_032844.5 protein_coding - 8/11 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant,non_coding_transcript_variant MODIFIER MASTL 84930 Transcript NR_135469.2 misc_RNA - 8/10 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_005252631.5 protein_coding - 8/10 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_005252632.5 protein_coding - 8/9 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_006717519.5 protein_coding - 8/11 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_006717520.5 protein_coding - 8/11 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_011519751.3 protein_coding - 2/6 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_017016852.3 protein_coding - 8/10 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_017016853.3 protein_coding - 8/12 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_017016855.3 protein_coding - 8/10 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_024448243.2 protein_coding - 8/10 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_024448244.2 protein_coding - 8/9 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_047425916.1 protein_coding - 8/11 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_047425917.1 protein_coding - 8/11 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_047425918.1 protein_coding - 8/10 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_047425919.1 protein_coding - 8/10 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27173024-27173024 A intron_variant MODIFIER MASTL 84930 Transcript XM_047425920.1 protein_coding - 8/10 - - - - - - - rs6482600,COSV60909967 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.3968 benign 0,1 1,1 - - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL ENSG00000120539 Transcript ENST00000342386.10 protein_coding 11/11 - - - 2559 2502 834 T acT/acC rs10741130,COSV60909974 - 1 - HGNC HGNC:19042 - - 2 - - Ensembl - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL ENSG00000120539 Transcript ENST00000375940.9 protein_coding 12/12 - - - 2694 2619 873 T acT/acC rs10741130,COSV60909974 - 1 - HGNC HGNC:19042 NM_001172303.3 - 1 A1 - Ensembl - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL ENSG00000120539 Transcript ENST00000375946.8 protein_coding 12/12 - - - 3219 2616 872 T acT/acC rs10741130,COSV60909974 - 1 - HGNC HGNC:19042 - - 1 P4 - Ensembl - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL ENSG00000120539 Transcript ENST00000477034.2 protein_coding 3/3 - - - 1419 1419 473 T acT/acC rs10741130,COSV60909974 - 1 cds_start_NF HGNC HGNC:19042 - - 2 - - Ensembl - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676511.1 protein_coding - 13/13 - - - - - - - rs10741130,COSV60909974 - -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676997.1 protein_coding - 12/12 - - - - - - - rs10741130,COSV60909974 - -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677440.1 protein_coding - 12/12 - - - - - - - rs10741130,COSV60909974 - -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript NM_001172303.3 protein_coding 12/12 - - - 2694 2619 873 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 ENST00000375940.9 - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript NM_001172304.3 protein_coding 11/11 - - - 2577 2502 834 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript NM_001320756.2 protein_coding 13/13 - - - 2706 2631 877 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript NM_001320757.2 protein_coding 13/13 - - - 2709 2634 878 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript NM_001352570.1 protein_coding - 12/12 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript NM_001372029.1 protein_coding 14/14 - - - 2829 2151 717 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript NM_001372030.1 protein_coding 13/13 - - - 2814 2136 712 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript NM_032844.5 protein_coding 12/12 - - - 2691 2616 872 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C non_coding_transcript_exon_variant MODIFIER MASTL 84930 Transcript NR_135469.2 misc_RNA 11/11 - - - 2552 - - - - rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript XM_005252631.5 protein_coding 11/11 - - - 2580 2505 835 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript XM_005252632.5 protein_coding 10/10 - - - 2478 2403 801 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript XM_006717519.5 protein_coding 12/12 - - - 2607 2532 844 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C downstream_gene_variant MODIFIER MASTL 84930 Transcript XM_006717520.5 protein_coding - - - - - - - - - rs10741130,COSV60909974 4848 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript XM_011519751.3 protein_coding 7/7 - - - 1739 1623 541 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript XM_017016852.3 protein_coding 11/11 - - - 2589 2514 838 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript XM_017016853.3 protein_coding 13/13 - - - 3197 2487 829 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C downstream_gene_variant MODIFIER MASTL 84930 Transcript XM_017016855.3 protein_coding - - - - - - - - - rs10741130,COSV60909974 3972 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016884.3 protein_coding - 13/13 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016885.3 protein_coding - 12/12 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016887.3 protein_coding - 13/13 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016888.3 protein_coding - 13/13 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016889.3 protein_coding - 12/12 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016890.3 protein_coding - 12/12 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016893.3 protein_coding - 11/11 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016895.3 protein_coding - 13/13 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016896.2 protein_coding - 12/12 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016898.3 protein_coding - 11/11 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript XM_024448243.2 protein_coding 11/11 - - - 2592 2517 839 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript XM_024448244.2 protein_coding 10/10 - - - 2475 2400 800 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript XM_024448248.2 protein_coding - 12/12 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript XM_047425916.1 protein_coding 12/12 - - - 3182 2472 824 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript XM_047425917.1 protein_coding 12/12 - - - 3179 2469 823 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C downstream_gene_variant MODIFIER MASTL 84930 Transcript XM_047425918.1 protein_coding - - - - - - - - - rs10741130,COSV60909974 3972 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript XM_047425919.1 protein_coding 11/11 - - - 3068 2358 786 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C synonymous_variant LOW MASTL 84930 Transcript XM_047425920.1 protein_coding 11/11 - - - 3065 2355 785 T acT/acC rs10741130,COSV60909974 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186515-27186515 C intron_variant MODIFIER ACBD5 91452 Transcript XM_047425993.1 protein_coding - 13/13 - - - - - - - rs10741130,COSV60909974 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.5110 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL ENSG00000120539 Transcript ENST00000342386.10 protein_coding 11/11 - - - 2609 - - - - rs10764686,COSV60909982 - 1 - HGNC HGNC:19042 - - 2 - - Ensembl - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL ENSG00000120539 Transcript ENST00000375940.9 protein_coding 12/12 - - - 2744 - - - - rs10764686,COSV60909982 - 1 - HGNC HGNC:19042 NM_001172303.3 - 1 A1 - Ensembl - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL ENSG00000120539 Transcript ENST00000375946.8 protein_coding 12/12 - - - 3269 - - - - rs10764686,COSV60909982 - 1 - HGNC HGNC:19042 - - 1 P4 - Ensembl - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL ENSG00000120539 Transcript ENST00000477034.2 protein_coding 3/3 - - - 1469 - - - - rs10764686,COSV60909982 - 1 cds_start_NF HGNC HGNC:19042 - - 2 - - Ensembl - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676511.1 protein_coding - 13/13 - - - - - - - rs10764686,COSV60909982 - -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676997.1 protein_coding - 12/12 - - - - - - - rs10764686,COSV60909982 - -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677440.1 protein_coding - 12/12 - - - - - - - rs10764686,COSV60909982 - -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript NM_001172303.3 protein_coding 12/12 - - - 2744 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 ENST00000375940.9 - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript NM_001172304.3 protein_coding 11/11 - - - 2627 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript NM_001320756.2 protein_coding 13/13 - - - 2756 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript NM_001320757.2 protein_coding 13/13 - - - 2759 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript NM_001352570.1 protein_coding - 12/12 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript NM_001372029.1 protein_coding 14/14 - - - 2879 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript NM_001372030.1 protein_coding 13/13 - - - 2864 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript NM_032844.5 protein_coding 12/12 - - - 2741 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C non_coding_transcript_exon_variant MODIFIER MASTL 84930 Transcript NR_135469.2 misc_RNA 11/11 - - - 2602 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript XM_005252631.5 protein_coding 11/11 - - - 2630 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript XM_005252632.5 protein_coding 10/10 - - - 2528 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript XM_006717519.5 protein_coding 12/12 - - - 2657 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C downstream_gene_variant MODIFIER MASTL 84930 Transcript XM_006717520.5 protein_coding - - - - - - - - - rs10764686,COSV60909982 4898 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript XM_011519751.3 protein_coding 7/7 - - - 1789 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript XM_017016852.3 protein_coding 11/11 - - - 2639 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript XM_017016853.3 protein_coding 13/13 - - - 3247 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C downstream_gene_variant MODIFIER MASTL 84930 Transcript XM_017016855.3 protein_coding - - - - - - - - - rs10764686,COSV60909982 4022 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016884.3 protein_coding - 13/13 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016885.3 protein_coding - 12/12 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016887.3 protein_coding - 13/13 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016888.3 protein_coding - 13/13 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016889.3 protein_coding - 12/12 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016890.3 protein_coding - 12/12 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016893.3 protein_coding - 11/11 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016895.3 protein_coding - 13/13 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016896.2 protein_coding - 12/12 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript XM_017016898.3 protein_coding - 11/11 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript XM_024448243.2 protein_coding 11/11 - - - 2642 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript XM_024448244.2 protein_coding 10/10 - - - 2525 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript XM_024448248.2 protein_coding - 12/12 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript XM_047425916.1 protein_coding 12/12 - - - 3232 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript XM_047425917.1 protein_coding 12/12 - - - 3229 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C downstream_gene_variant MODIFIER MASTL 84930 Transcript XM_047425918.1 protein_coding - - - - - - - - - rs10764686,COSV60909982 4022 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript XM_047425919.1 protein_coding 11/11 - - - 3118 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C 3_prime_UTR_variant MODIFIER MASTL 84930 Transcript XM_047425920.1 protein_coding 11/11 - - - 3115 - - - - rs10764686,COSV60909982 - 1 - EntrezGene HGNC:19042 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27186565-27186565 C intron_variant MODIFIER ACBD5 91452 Transcript XM_047425993.1 protein_coding - 13/13 - - - - - - - rs10764686,COSV60909982 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.4000 benign 0,1 1,1 25741868 - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000375888.5 protein_coding 6/13 - - - 623 558 186 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - 5 A1 - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000375897.7 protein_coding 5/12 - - - 911 525 175 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - 2 A1 - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000375901.5 protein_coding 5/12 - - - 425 204 68 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - 1 - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000375905.8 protein_coding 6/13 - - - 588 426 142 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - 2 A1 - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000396271.8 protein_coding 6/13 - - - 640 531 177 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 NM_145698.5 - 1 P4 - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000412279.1 protein_coding 7/8 - - - 581 459 153 T acC/acT rs12572325,COSV65519505 - -1 cds_end_NF HGNC HGNC:23338 - - 3 - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000426079.5 protein_coding 7/8 - - - 716 459 153 T acC/acT rs12572325,COSV65519505 - -1 cds_end_NF HGNC HGNC:23338 - - 5 - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000476758.1 nonsense_mediated_decay 6/12 - - - 618 - - - - rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - 2 - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000676511.1 protein_coding 7/14 - - - 690 459 153 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676599.1 nonsense_mediated_decay 6/13 - - - 706 - - - - rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant,NMD_transcript_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000676648.1 nonsense_mediated_decay 6/12 - - - 684 558 186 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000676731.1 protein_coding 6/13 - - - 568 426 142 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000676732.1 protein_coding 6/12 - - - 696 459 153 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000676997.1 protein_coding 6/13 - - - 660 531 177 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000677141.1 protein_coding 8/15 - - - 724 510 170 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000677200.1 protein_coding 6/13 - - - 655 426 142 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000677248.1 protein_coding 7/13 - - - 749 459 153 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000677311.1 protein_coding 5/11 - - - 829 525 175 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000677440.1 protein_coding 6/13 - - - 539 237 79 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000677441.1 protein_coding 6/14 - - - 578 426 142 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000677509.1 protein_coding 7/14 - - - 591 459 153 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - A1 - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000677667.1 protein_coding 6/12 - - - 655 426 142 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000677901.1 protein_coding 4/10 - - - 392 159 53 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000677960.1 protein_coding 5/11 - - - 794 426 142 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000678392.1 protein_coding 6/12 - - - 569 426 142 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000678446.1 protein_coding 6/12 - - - 573 426 142 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A splice_polypyrimidine_tract_variant,intron_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000679220.1 protein_coding - 5/12 - - - - - - - rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 ENSG00000107897 Transcript ENST00000679293.1 protein_coding 7/14 - - - 997 426 142 T acC/acT rs12572325,COSV65519505 - -1 - HGNC HGNC:23338 - - - A1 - Ensembl - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001042473.4 protein_coding 6/13 - - - 569 426 142 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001271512.3 protein_coding 5/12 - - - 911 525 175 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001301251.2 protein_coding 5/12 - - - 448 204 68 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001301252.2 protein_coding 4/11 - - - 397 204 68 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001301253.2 protein_coding 5/12 - - - 438 204 68 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001301254.2 protein_coding 4/10 - - - 397 204 68 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352568.1 protein_coding 7/14 - - - 745 585 195 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352569.1 protein_coding 7/14 - - - 755 564 188 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352570.1 protein_coding 6/13 - - - 722 531 177 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352571.1 protein_coding 6/13 - - - 944 558 186 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352572.1 protein_coding 6/13 - - - 712 552 184 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A splice_polypyrimidine_tract_variant,intron_variant LOW ACBD5 91452 Transcript NM_001352573.1 protein_coding - 6/13 - - - - - - - rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352574.2 protein_coding 7/14 - - - 602 459 153 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352575.2 protein_coding 7/14 - - - 592 459 153 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352576.2 protein_coding 7/14 - - - 591 459 153 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352577.2 protein_coding 6/13 - - - 559 426 142 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352578.2 protein_coding 6/13 - - - 558 426 142 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352579.2 protein_coding 6/13 - - - 970 426 142 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A splice_polypyrimidine_tract_variant,intron_variant LOW ACBD5 91452 Transcript NM_001352580.2 protein_coding - 5/12 - - - - - - - rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352581.1 protein_coding 7/13 - - - 755 564 188 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352582.2 protein_coding 6/12 - - - 569 426 142 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352583.1 protein_coding 5/12 - - - 591 204 68 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352584.1 protein_coding 5/12 - - - 601 204 68 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352585.1 protein_coding 6/13 - - - 624 237 79 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352586.1 protein_coding 6/12 - - - 944 558 186 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352587.1 protein_coding 5/11 - - - 911 525 175 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_001352588.1 protein_coding 6/12 - - - 722 531 177 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G OK - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript NM_145698.5 protein_coding 6/13 - - - 640 531 177 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 ENST00000396271.8 - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_017016884.3 protein_coding 7/14 - - - 592 459 153 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_017016885.3 protein_coding 6/13 - - - 559 426 142 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_017016887.3 protein_coding 7/14 - - - 745 585 195 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_017016888.3 protein_coding 7/14 - - - 755 564 188 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_017016889.3 protein_coding 6/13 - - - 712 552 184 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_017016890.3 protein_coding 7/13 - - - 592 459 153 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_017016893.3 protein_coding 6/12 - - - 559 426 142 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_017016894.3 protein_coding 6/12 - - - 559 426 142 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_017016895.3 protein_coding 7/14 - - - 602 459 153 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_017016896.2 protein_coding 6/13 - - - 569 426 142 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_017016898.3 protein_coding 6/12 - - - 722 531 177 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_024448248.2 protein_coding 7/13 - - - 755 564 188 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_024448249.2 protein_coding 6/12 - - - 712 552 184 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_047425993.1 protein_coding 7/14 - - - 824 567 189 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_047425994.1 protein_coding 7/13 - - - 592 459 153 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_047425995.1 protein_coding 6/13 - - - 791 534 178 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27219817-27219817 A synonymous_variant LOW ACBD5 91452 Transcript XM_047425996.1 protein_coding 7/13 - - - 745 585 195 T acC/acT rs12572325,COSV65519505 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0689 benign 0,1 1,1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375888.5 protein_coding - 3/12 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - 5 A1 - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375897.7 protein_coding - 3/11 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - 2 A1 - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375901.5 protein_coding - 3/11 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - 1 - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375905.8 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - 2 A1 - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000396271.8 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 NM_145698.5 - 1 P4 - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000412279.1 protein_coding - 4/7 - - - - - - - rs34648359 - -1 cds_end_NF HGNC HGNC:23338 - - 3 - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000426079.5 protein_coding - 4/7 - - - - - - - rs34648359 - -1 cds_end_NF HGNC HGNC:23338 - - 5 - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant,NMD_transcript_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000476758.1 nonsense_mediated_decay - 2/11 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - 2 - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676511.1 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant,NMD_transcript_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676599.1 nonsense_mediated_decay - 4/12 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant,NMD_transcript_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676648.1 nonsense_mediated_decay - 3/11 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676731.1 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676732.1 protein_coding - 3/11 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676997.1 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677141.1 protein_coding - 4/14 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677200.1 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677248.1 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677311.1 protein_coding - 3/10 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677440.1 protein_coding - 3/12 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677441.1 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677509.1 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - A1 - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677667.1 protein_coding - 4/11 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677901.1 protein_coding - 2/9 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677960.1 protein_coding - 3/10 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000678392.1 protein_coding - 4/11 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000678446.1 protein_coding - 4/11 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000679220.1 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000679293.1 protein_coding - 5/13 - - - - - - - rs34648359 - -1 - HGNC HGNC:23338 - - - A1 - Ensembl - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001042473.4 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001271512.3 protein_coding - 3/11 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001301251.2 protein_coding - 3/11 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001301252.2 protein_coding - 2/10 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001301253.2 protein_coding - 3/11 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001301254.2 protein_coding - 2/9 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352568.1 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352569.1 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352570.1 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352571.1 protein_coding - 3/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352572.1 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352573.1 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352574.2 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352575.2 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352576.2 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352577.2 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352578.2 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352579.2 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352580.2 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352581.1 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352582.2 protein_coding - 4/11 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352583.1 protein_coding - 3/11 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352584.1 protein_coding - 3/11 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352585.1 protein_coding - 3/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352586.1 protein_coding - 3/11 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352587.1 protein_coding - 3/10 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_001352588.1 protein_coding - 4/11 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C OK - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript NM_145698.5 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 ENST00000396271.8 - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_017016884.3 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_017016885.3 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_017016887.3 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_017016888.3 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_017016889.3 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_017016890.3 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_017016893.3 protein_coding - 4/11 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_017016894.3 protein_coding - 4/11 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_017016895.3 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_017016896.2 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_017016898.3 protein_coding - 4/11 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_024448248.2 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_024448249.2 protein_coding - 4/11 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_047425993.1 protein_coding - 4/13 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_047425994.1 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_047425995.1 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - intron_variant MODIFIER ACBD5 91452 Transcript XM_047425996.1 protein_coding - 4/12 - - - - - - - rs34648359 - -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - 0.0691 benign - 1 - - - - - - . 10:27223491-27223492 - regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000258653 CTCF_binding_site - - - - - - - - - rs34648359 - - - - - - - - - - - - - - - - - 0.0691 benign - 1 - - - - - - . 10:27246671-27246671 C downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000284414.4 processed_transcript - - - - - - - - - rs640284 630 -1 - HGNC HGNC:33746 - - - - - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375901.5 protein_coding - - - - - - - - - rs640284 4583 -1 - HGNC HGNC:23338 - - 1 - - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375905.8 protein_coding - - - - - - - - - rs640284 4541 -1 - HGNC HGNC:23338 - - 2 A1 - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000412279.1 protein_coding - - - - - - - - - rs640284 4581 -1 cds_end_NF HGNC HGNC:23338 - - 3 - - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000448648.2 transcribed_processed_pseudogene 1/1 - - - 5123 - - - - rs640284 - -1 - HGNC HGNC:33746 - - - - - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000574795.1 processed_transcript - - - - - - - - - rs640284 4433 -1 - HGNC HGNC:33746 - - 4 - - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000262412 Transcript ENST00000574842.1 lncRNA - 1/1 - - - - - - - rs640284 - 1 - - - - - 2 - - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000575554.1 processed_transcript - - - - - - - - - rs640284 4327 -1 - HGNC HGNC:33746 - - 3 - - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676731.1 protein_coding - - - - - - - - - rs640284 4561 -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677441.1 protein_coding - - - - - - - - - rs640284 4551 -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677509.1 protein_coding - - - - - - - - - rs640284 4803 -1 - HGNC HGNC:23338 - - - A1 - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000678392.1 protein_coding - - - - - - - - - rs640284 4560 -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000678446.1 protein_coding - - - - - - - - - rs640284 4556 -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000679220.1 protein_coding - - - - - - - - - rs640284 4560 -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000679293.1 protein_coding - - - - - - - - - rs640284 3625 -1 - HGNC HGNC:23338 - - - A1 - Ensembl - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001042473.4 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001301251.2 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001301253.2 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352574.2 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352575.2 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352576.2 protein_coding - - - - - - - - - rs640284 4803 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352577.2 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352578.2 protein_coding - - - - - - - - - rs640284 4803 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352579.2 protein_coding - - - - - - - - - rs640284 4852 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352580.2 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352582.2 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C non_coding_transcript_exon_variant MODIFIER LRRC37A6P 387646 Transcript NR_003525.2 transcribed_pseudogene 1/1 - - - 5636 - - - - rs640284 - -1 - EntrezGene HGNC:33746 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016884.3 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016885.3 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016890.3 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016893.3 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016894.3 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016895.3 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016896.2 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425993.1 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425994.1 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425995.1 protein_coding - - - - - - - - - rs640284 4560 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - 0.2011 - - - - - - - - - . 10:27246671-27246671 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000399142 enhancer - - - - - - - - - rs640284 - - - - - - - - - - - - - - - - - 0.2011 - - - - - - - - - . 10:27246808-27246808 G downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000284414.4 processed_transcript - - - - - - - - - - 493 -1 - HGNC HGNC:33746 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375901.5 protein_coding - - - - - - - - - - 4720 -1 - HGNC HGNC:23338 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375905.8 protein_coding - - - - - - - - - - 4678 -1 - HGNC HGNC:23338 - - 2 A1 - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000412279.1 protein_coding - - - - - - - - - - 4718 -1 cds_end_NF HGNC HGNC:23338 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000448648.2 transcribed_processed_pseudogene 1/1 - - - 4986 - - - - - - -1 - HGNC HGNC:33746 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000574795.1 processed_transcript - - - - - - - - - - 4296 -1 - HGNC HGNC:33746 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000262412 Transcript ENST00000574842.1 lncRNA - 1/1 - - - - - - - - - 1 - - - - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000575554.1 processed_transcript - - - - - - - - - - 4190 -1 - HGNC HGNC:33746 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676731.1 protein_coding - - - - - - - - - - 4698 -1 - HGNC HGNC:23338 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677441.1 protein_coding - - - - - - - - - - 4688 -1 - HGNC HGNC:23338 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677509.1 protein_coding - - - - - - - - - - 4940 -1 - HGNC HGNC:23338 - - - A1 - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000678392.1 protein_coding - - - - - - - - - - 4697 -1 - HGNC HGNC:23338 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000678446.1 protein_coding - - - - - - - - - - 4693 -1 - HGNC HGNC:23338 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000679220.1 protein_coding - - - - - - - - - - 4697 -1 - HGNC HGNC:23338 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000679293.1 protein_coding - - - - - - - - - - 3762 -1 - HGNC HGNC:23338 - - - A1 - Ensembl - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001042473.4 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001301251.2 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001301253.2 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352574.2 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352575.2 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352576.2 protein_coding - - - - - - - - - - 4940 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352577.2 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352578.2 protein_coding - - - - - - - - - - 4940 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352579.2 protein_coding - - - - - - - - - - 4989 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352580.2 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352582.2 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G non_coding_transcript_exon_variant MODIFIER LRRC37A6P 387646 Transcript NR_003525.2 transcribed_pseudogene 1/1 - - - 5499 - - - - - - -1 - EntrezGene HGNC:33746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016884.3 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016885.3 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016890.3 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016893.3 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016894.3 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016895.3 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016896.2 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425993.1 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425994.1 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246808-27246808 G upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425995.1 protein_coding - - - - - - - - - - 4697 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:27246836-27246836 A downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000284414.4 processed_transcript - - - - - - - - - rs144116117 465 -1 - HGNC HGNC:33746 - - - - - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375901.5 protein_coding - - - - - - - - - rs144116117 4748 -1 - HGNC HGNC:23338 - - 1 - - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375905.8 protein_coding - - - - - - - - - rs144116117 4706 -1 - HGNC HGNC:23338 - - 2 A1 - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000412279.1 protein_coding - - - - - - - - - rs144116117 4746 -1 cds_end_NF HGNC HGNC:23338 - - 3 - - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000448648.2 transcribed_processed_pseudogene 1/1 - - - 4958 - - - - rs144116117 - -1 - HGNC HGNC:33746 - - - - - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000574795.1 processed_transcript - - - - - - - - - rs144116117 4268 -1 - HGNC HGNC:33746 - - 4 - - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000262412 Transcript ENST00000574842.1 lncRNA - 1/1 - - - - - - - rs144116117 - 1 - - - - - 2 - - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000575554.1 processed_transcript - - - - - - - - - rs144116117 4162 -1 - HGNC HGNC:33746 - - 3 - - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676731.1 protein_coding - - - - - - - - - rs144116117 4726 -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677441.1 protein_coding - - - - - - - - - rs144116117 4716 -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677509.1 protein_coding - - - - - - - - - rs144116117 4968 -1 - HGNC HGNC:23338 - - - A1 - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000678392.1 protein_coding - - - - - - - - - rs144116117 4725 -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000678446.1 protein_coding - - - - - - - - - rs144116117 4721 -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000679220.1 protein_coding - - - - - - - - - rs144116117 4725 -1 - HGNC HGNC:23338 - - - - - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000679293.1 protein_coding - - - - - - - - - rs144116117 3790 -1 - HGNC HGNC:23338 - - - A1 - Ensembl - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001042473.4 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001301251.2 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001301253.2 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352574.2 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352575.2 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352576.2 protein_coding - - - - - - - - - rs144116117 4968 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352577.2 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352578.2 protein_coding - - - - - - - - - rs144116117 4968 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352580.2 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352582.2 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A non_coding_transcript_exon_variant MODIFIER LRRC37A6P 387646 Transcript NR_003525.2 transcribed_pseudogene 1/1 - - - 5471 - - - - rs144116117 - -1 - EntrezGene HGNC:33746 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016884.3 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016885.3 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016890.3 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016893.3 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016894.3 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016895.3 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016896.2 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425993.1 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425994.1 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246836-27246836 A upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425995.1 protein_coding - - - - - - - - - rs144116117 4725 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - G G - - - 0.0737 - - - - - - - - - . 10:27246887-27246887 T downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000284414.4 processed_transcript - - - - - - - - - - 414 -1 - HGNC HGNC:33746 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375901.5 protein_coding - - - - - - - - - - 4799 -1 - HGNC HGNC:23338 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375905.8 protein_coding - - - - - - - - - - 4757 -1 - HGNC HGNC:23338 - - 2 A1 - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000412279.1 protein_coding - - - - - - - - - - 4797 -1 cds_end_NF HGNC HGNC:23338 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000448648.2 transcribed_processed_pseudogene 1/1 - - - 4907 - - - - - - -1 - HGNC HGNC:33746 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000574795.1 processed_transcript - - - - - - - - - - 4217 -1 - HGNC HGNC:33746 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000262412 Transcript ENST00000574842.1 lncRNA - 1/1 - - - - - - - - - 1 - - - - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000575554.1 processed_transcript - - - - - - - - - - 4111 -1 - HGNC HGNC:33746 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676731.1 protein_coding - - - - - - - - - - 4777 -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677441.1 protein_coding - - - - - - - - - - 4767 -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000678392.1 protein_coding - - - - - - - - - - 4776 -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000678446.1 protein_coding - - - - - - - - - - 4772 -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000679220.1 protein_coding - - - - - - - - - - 4776 -1 - HGNC HGNC:23338 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000679293.1 protein_coding - - - - - - - - - - 3841 -1 - HGNC HGNC:23338 - - - A1 - Ensembl - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001042473.4 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001301251.2 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001301253.2 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352574.2 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352575.2 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352577.2 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352580.2 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352582.2 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T non_coding_transcript_exon_variant MODIFIER LRRC37A6P 387646 Transcript NR_003525.2 transcribed_pseudogene 1/1 - - - 5420 - - - - - - -1 - EntrezGene HGNC:33746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016884.3 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016885.3 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016890.3 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016893.3 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016894.3 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016895.3 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016896.2 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425993.1 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425994.1 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246887-27246887 T upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425995.1 protein_coding - - - - - - - - - - 4776 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27246892-27246892 C downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000284414.4 processed_transcript - - - - - - - - - - 409 -1 - HGNC HGNC:33746 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375901.5 protein_coding - - - - - - - - - - 4804 -1 - HGNC HGNC:23338 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000375905.8 protein_coding - - - - - - - - - - 4762 -1 - HGNC HGNC:23338 - - 2 A1 - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000412279.1 protein_coding - - - - - - - - - - 4802 -1 cds_end_NF HGNC HGNC:23338 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000448648.2 transcribed_processed_pseudogene 1/1 - - - 4902 - - - - - - -1 - HGNC HGNC:33746 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000574795.1 processed_transcript - - - - - - - - - - 4212 -1 - HGNC HGNC:33746 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000262412 Transcript ENST00000574842.1 lncRNA - 1/1 - - - - - - - - - 1 - - - - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000575554.1 processed_transcript - - - - - - - - - - 4106 -1 - HGNC HGNC:33746 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000676731.1 protein_coding - - - - - - - - - - 4782 -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000677441.1 protein_coding - - - - - - - - - - 4772 -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000678392.1 protein_coding - - - - - - - - - - 4781 -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000678446.1 protein_coding - - - - - - - - - - 4777 -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000679220.1 protein_coding - - - - - - - - - - 4781 -1 - HGNC HGNC:23338 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 ENSG00000107897 Transcript ENST00000679293.1 protein_coding - - - - - - - - - - 3846 -1 - HGNC HGNC:23338 - - - A1 - Ensembl - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001042473.4 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001301251.2 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001301253.2 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352574.2 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352575.2 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352577.2 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352580.2 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript NM_001352582.2 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C non_coding_transcript_exon_variant MODIFIER LRRC37A6P 387646 Transcript NR_003525.2 transcribed_pseudogene 1/1 - - - 5415 - - - - - - -1 - EntrezGene HGNC:33746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016884.3 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016885.3 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016890.3 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016893.3 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016894.3 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016895.3 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_017016896.2 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425993.1 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425994.1 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27246892-27246892 C upstream_gene_variant MODIFIER ACBD5 91452 Transcript XM_047425995.1 protein_coding - - - - - - - - - - 4781 -1 - EntrezGene HGNC:23338 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27249071-27249071 C non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000284414.4 processed_transcript 1/1 - - - 1492 - - - - rs759316963 - -1 - HGNC HGNC:33746 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:27249071-27249071 C non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000448648.2 transcribed_processed_pseudogene 1/1 - - - 2723 - - - - rs759316963 - -1 - HGNC HGNC:33746 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:27249071-27249071 C downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000574795.1 processed_transcript - - - - - - - - - rs759316963 2033 -1 - HGNC HGNC:33746 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:27249071-27249071 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000262412 Transcript ENST00000574842.1 lncRNA - 1/1 - - - - - - - rs759316963 - 1 - - - - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:27249071-27249071 C downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000575554.1 processed_transcript - - - - - - - - - rs759316963 1927 -1 - HGNC HGNC:33746 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:27249071-27249071 C non_coding_transcript_exon_variant MODIFIER LRRC37A6P 387646 Transcript NR_003525.2 transcribed_pseudogene 1/1 - - - 3236 - - - - rs759316963 - -1 - EntrezGene HGNC:33746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:27249258-27249258 T non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000284414.4 processed_transcript 1/1 - - - 1305 - - - - rs529067209 - -1 - HGNC HGNC:33746 - - - - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:27249258-27249258 T non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000448648.2 transcribed_processed_pseudogene 1/1 - - - 2536 - - - - rs529067209 - -1 - HGNC HGNC:33746 - - - - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:27249258-27249258 T downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000574795.1 processed_transcript - - - - - - - - - rs529067209 1846 -1 - HGNC HGNC:33746 - - 4 - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:27249258-27249258 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000262412 Transcript ENST00000574842.1 lncRNA - 1/1 - - - - - - - rs529067209 - 1 - - - - - 2 - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:27249258-27249258 T downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000575554.1 processed_transcript - - - - - - - - - rs529067209 1740 -1 - HGNC HGNC:33746 - - 3 - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:27249258-27249258 T non_coding_transcript_exon_variant MODIFIER LRRC37A6P 387646 Transcript NR_003525.2 transcribed_pseudogene 1/1 - - - 3049 - - - - rs529067209 - -1 - EntrezGene HGNC:33746 - - - - - RefSeq - C C - - - 0.0002 - - - - - - - - - . 10:27249281-27249281 T non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000284414.4 processed_transcript 1/1 - - - 1282 - - - - - - -1 - HGNC HGNC:33746 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:27249281-27249281 T non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000448648.2 transcribed_processed_pseudogene 1/1 - - - 2513 - - - - - - -1 - HGNC HGNC:33746 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:27249281-27249281 T downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000574795.1 processed_transcript - - - - - - - - - - 1823 -1 - HGNC HGNC:33746 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:27249281-27249281 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000262412 Transcript ENST00000574842.1 lncRNA - 1/1 - - - - - - - - - 1 - - - - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:27249281-27249281 T downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000575554.1 processed_transcript - - - - - - - - - - 1717 -1 - HGNC HGNC:33746 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:27249281-27249281 T non_coding_transcript_exon_variant MODIFIER LRRC37A6P 387646 Transcript NR_003525.2 transcribed_pseudogene 1/1 - - - 3026 - - - - - - -1 - EntrezGene HGNC:33746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:27250013-27250013 C non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000284414.4 processed_transcript 1/1 - - - 550 - - - - rs590142 - -1 - HGNC HGNC:33746 - - - - - Ensembl - T T - - - 0.2897 - - - 16385451 - - - - - . 10:27250013-27250013 C non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000448648.2 transcribed_processed_pseudogene 1/1 - - - 1781 - - - - rs590142 - -1 - HGNC HGNC:33746 - - - - - Ensembl - T T - - - 0.2897 - - - 16385451 - - - - - . 10:27250013-27250013 C downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000574795.1 processed_transcript - - - - - - - - - rs590142 1091 -1 - HGNC HGNC:33746 - - 4 - - Ensembl - T T - - - 0.2897 - - - 16385451 - - - - - . 10:27250013-27250013 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000262412 Transcript ENST00000574842.1 lncRNA - 1/1 - - - - - - - rs590142 - 1 - - - - - 2 - - Ensembl - T T - - - 0.2897 - - - 16385451 - - - - - . 10:27250013-27250013 C downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000575554.1 processed_transcript - - - - - - - - - rs590142 985 -1 - HGNC HGNC:33746 - - 3 - - Ensembl - T T - - - 0.2897 - - - 16385451 - - - - - . 10:27250013-27250013 C non_coding_transcript_exon_variant MODIFIER LRRC37A6P 387646 Transcript NR_003525.2 transcribed_pseudogene 1/1 - - - 2294 - - - - rs590142 - -1 - EntrezGene HGNC:33746 - - - - - RefSeq - T T - - - 0.2897 - - - 16385451 - - - - - . 10:27250999-27250999 G upstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000284414.4 processed_transcript - - - - - - - - - rs604705 437 -1 - HGNC HGNC:33746 - - - - - Ensembl - A A - - - 0.2183 - - - - - - - - - . 10:27250999-27250999 G non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000448648.2 transcribed_processed_pseudogene 1/1 - - - 795 - - - - rs604705 - -1 - HGNC HGNC:33746 - - - - - Ensembl - A A - - - 0.2183 - - - - - - - - - . 10:27250999-27250999 G downstream_gene_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000574795.1 processed_transcript - - - - - - - - - rs604705 105 -1 - HGNC HGNC:33746 - - 4 - - Ensembl - A A - - - 0.2183 - - - - - - - - - . 10:27250999-27250999 G downstream_gene_variant MODIFIER - ENSG00000262412 Transcript ENST00000574842.1 lncRNA - - - - - - - - - rs604705 195 1 - - - - - 2 - - Ensembl - A A - - - 0.2183 - - - - - - - - - . 10:27250999-27250999 G non_coding_transcript_exon_variant MODIFIER LRRC37A6P ENSG00000230445 Transcript ENST00000575554.1 processed_transcript 4/4 - - - 572 - - - - rs604705 - -1 - HGNC HGNC:33746 - - 3 - - Ensembl - A A - - - 0.2183 - - - - - - - - - . 10:27250999-27250999 G non_coding_transcript_exon_variant MODIFIER LRRC37A6P 387646 Transcript NR_003525.2 transcribed_pseudogene 1/1 - - - 1308 - - - - rs604705 - -1 - EntrezGene HGNC:33746 - - - - - RefSeq - A A - - - 0.2183 - - - - - - - - - . 10:27340817-27340817 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215409 Transcript ENST00000422707.1 unprocessed_pseudogene 2/6 - - - 274 - - - - rs237596 - -1 - - - - - - - - Ensembl - G G - - - 0.7169 - - - 16385451 - - - - - . 10:27340817-27340817 C upstream_gene_variant MODIFIER LINC02673 ENSG00000260151 Transcript ENST00000568270.1 lncRNA - - - - - - - - - rs237596 2619 1 - HGNC HGNC:54167 - - 1 - - Ensembl - G G - - - 0.7169 - - - 16385451 - - - - - . 10:27340817-27340817 C upstream_gene_variant MODIFIER LINC02673 101929180 Transcript XR_242744.3 lncRNA - - - - - - - - - rs237596 1653 1 - EntrezGene HGNC:54167 - - - - - RefSeq - G G - - - 0.7169 - - - 16385451 - - - - - . 10:27340833-27340833 G non_coding_transcript_exon_variant MODIFIER - ENSG00000215409 Transcript ENST00000422707.1 unprocessed_pseudogene 2/6 - - - 258 - - - - rs12265067 - -1 - - - - - - - - Ensembl - T T - - - 0.2462 - - - - - - - - - . 10:27340833-27340833 G upstream_gene_variant MODIFIER LINC02673 ENSG00000260151 Transcript ENST00000568270.1 lncRNA - - - - - - - - - rs12265067 2603 1 - HGNC HGNC:54167 - - 1 - - Ensembl - T T - - - 0.2462 - - - - - - - - - . 10:27340833-27340833 G upstream_gene_variant MODIFIER LINC02673 101929180 Transcript XR_242744.3 lncRNA - - - - - - - - - rs12265067 1637 1 - EntrezGene HGNC:54167 - - - - - RefSeq - T T - - - 0.2462 - - - - - - - - - . 10:27340951-27340951 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215409 Transcript ENST00000422707.1 unprocessed_pseudogene 2/6 - - - 140 - - - - rs237597 - -1 - - - - - - - - Ensembl - T T - - - 0.9415 - - - - - - - - - . 10:27340951-27340951 C upstream_gene_variant MODIFIER LINC02673 ENSG00000260151 Transcript ENST00000568270.1 lncRNA - - - - - - - - - rs237597 2485 1 - HGNC HGNC:54167 - - 1 - - Ensembl - T T - - - 0.9415 - - - - - - - - - . 10:27340951-27340951 C upstream_gene_variant MODIFIER LINC02673 101929180 Transcript XR_242744.3 lncRNA - - - - - - - - - rs237597 1519 1 - EntrezGene HGNC:54167 - - - - - RefSeq - T T - - - 0.9415 - - - - - - - - - . 10:27399036-27399036 G missense_variant MODERATE PTCHD3 ENSG00000182077 Transcript ENST00000642324.1 protein_coding_LoF 4/4 - - - 1680 1562 521 M/T aTg/aCg rs2505327,COSV71256301 - -1 - HGNC HGNC:24776 - - - P1 - Ensembl - A A - tolerated(1) benign(0.003) 0.5499 - 0,1 0,1 27533928,16385451 - - - - - . 10:27399036-27399036 G missense_variant MODERATE PTCHD3 374308 Transcript NM_001034842.5 protein_coding 4/4 - - - 1659 1562 521 M/T aTg/aCg rs2505327,COSV71256301 - -1 - EntrezGene HGNC:24776 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.5499 - 0,1 0,1 27533928,16385451 - - - - - . 10:27399065-27399065 G synonymous_variant LOW PTCHD3 ENSG00000182077 Transcript ENST00000642324.1 protein_coding_LoF 4/4 - - - 1651 1533 511 S tcT/tcC rs2484173,COSV71256302 - -1 - HGNC HGNC:24776 - - - P1 - Ensembl - A A - - - 0.5501 - 0,1 0,1 23107584 - - - - - . 10:27399065-27399065 G synonymous_variant LOW PTCHD3 374308 Transcript NM_001034842.5 protein_coding 4/4 - - - 1630 1533 511 S tcT/tcC rs2484173,COSV71256302 - -1 - EntrezGene HGNC:24776 - - - - - RefSeq - A A - - - 0.5501 - 0,1 0,1 23107584 - - - - - . 10:27403170-27403170 G intron_variant MODIFIER PTCHD3 ENSG00000182077 Transcript ENST00000642324.1 protein_coding_LoF - 3/3 - - - - - - - rs2484179,COSV71257182 - -1 - HGNC HGNC:24776 - - - P1 - Ensembl - A A - - - 0.4325 - 0,1 0,1 - - - - - - . 10:27403170-27403170 G intron_variant MODIFIER PTCHD3 374308 Transcript NM_001034842.5 protein_coding - 3/3 - - - - - - - rs2484179,COSV71257182 - -1 - EntrezGene HGNC:24776 - - - - - RefSeq - A A - - - 0.4325 - 0,1 0,1 - - - - - - . 10:27403350-27403350 C missense_variant MODERATE PTCHD3 ENSG00000182077 Transcript ENST00000642324.1 protein_coding_LoF 3/4 - - - 1337 1219 407 C/G Tgc/Ggc rs2484180,COSV71256853 - -1 - HGNC HGNC:24776 - - - P1 - Ensembl - A A - deleterious(0) benign(0.302) 0.4319 - 0,1 0,1 16385451,27142222 - - - - - . 10:27403350-27403350 C missense_variant MODERATE PTCHD3 374308 Transcript NM_001034842.5 protein_coding 3/4 - - - 1316 1219 407 C/G Tgc/Ggc rs2484180,COSV71256853 - -1 - EntrezGene HGNC:24776 - - - - - RefSeq - A A - deleterious(0.01) benign(0.183) 0.4319 - 0,1 0,1 16385451,27142222 - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000356940.11 protein_coding - 1/6 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 NM_021252.5 - 1 P1 - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000375802.7 protein_coding - 1/4 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - 5 - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G 5_prime_UTR_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000423465.2 protein_coding 2/7 - - - 303 - - - - rs11015826,COSV63613548 - 1 cds_end_NF HGNC HGNC:14244 - - 5 - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,non_coding_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000465772.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - 2 - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,non_coding_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000484281.2 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - 3 - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,non_coding_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000490236.2 retained_intron - 1/1 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - 5 - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000535776.6 protein_coding - 1/7 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - 2 - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000611151.5 nonsense_mediated_decay - 1/5 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - 5 - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000621805.5 protein_coding - 1/7 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - 1 - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682082.1 nonsense_mediated_decay - 1/7 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682138.1 retained_intron - - - - - - - - - rs11015826,COSV63613548 4714 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682173.1 nonsense_mediated_decay - - - - - - - - - rs11015826,COSV63613548 4700 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682181.1 nonsense_mediated_decay - 1/7 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,non_coding_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682368.1 protein_coding_CDS_not_defined - 1/1 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682389.1 protein_coding - 1/4 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,non_coding_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682518.1 retained_intron - 1/3 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682668.1 nonsense_mediated_decay - 1/7 - - - - - - - rs11015826,COSV63613548 - 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682852.1 nonsense_mediated_decay - 1/6 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682963.1 protein_coding - 1/3 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,non_coding_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683042.1 retained_intron - 1/5 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683419.1 nonsense_mediated_decay - 1/4 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683538.1 nonsense_mediated_decay - 1/7 - - - - - - - rs11015826,COSV63613548 - 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,non_coding_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683610.1 protein_coding_CDS_not_defined - 1/1 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683755.1 protein_coding - 1/6 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683797.1 protein_coding - 1/6 - - - - - - - rs11015826,COSV63613548 - 1 cds_end_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683816.1 nonsense_mediated_decay - 1/4 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683844.1 protein_coding_CDS_not_defined - - - - - - - - - rs11015826,COSV63613548 4700 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000684393.1 nonsense_mediated_decay - 1/7 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000684501.1 protein_coding - 1/5 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,non_coding_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000684744.1 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs11015826,COSV63613548 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 22931 Transcript NM_001256410.2 protein_coding - 1/7 - - - - - - - rs11015826,COSV63613548 - 1 - EntrezGene HGNC:14244 - - - - - RefSeq - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 22931 Transcript NM_001256411.2 protein_coding - 1/5 - - - - - - - rs11015826,COSV63613548 - 1 - EntrezGene HGNC:14244 - - - - - RefSeq - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 22931 Transcript NM_001256412.2 protein_coding - 1/4 - - - - - - - rs11015826,COSV63613548 - 1 - EntrezGene HGNC:14244 - - - - - RefSeq - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant MODIFIER RAB18 22931 Transcript NM_021252.5 protein_coding - 1/6 - - - - - - - rs11015826,COSV63613548 - 1 - EntrezGene HGNC:14244 ENST00000356940.11 - - - - RefSeq - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G intron_variant,non_coding_transcript_variant MODIFIER RAB18 22931 Transcript NR_046172.2 misc_RNA - 1/5 - - - - - - - rs11015826,COSV63613548 - 1 - EntrezGene HGNC:14244 - - - - - RefSeq - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G downstream_gene_variant MODIFIER LOC124902399 124902399 Transcript XR_007062097.1 lncRNA - - - - - - - - - rs11015826,COSV63613548 83 1 - EntrezGene - - - - - - RefSeq - T T - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27505175-27505175 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000025861 promoter - - - - - - - - - rs11015826,COSV63613548 - - - - - - - - - - - - - - - - - 0.0929 - 0,1 0,1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 ENSG00000099246 Transcript ENST00000356940.11 protein_coding - 4/6 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 NM_021252.5 - 1 P1 - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 ENSG00000099246 Transcript ENST00000375802.7 protein_coding - 2/4 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - 5 - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 ENSG00000099246 Transcript ENST00000423465.2 protein_coding - 6/6 - - - - - - - rs142609338 - 1 cds_end_NF HGNC HGNC:14244 - - 5 - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000465772.5 protein_coding_CDS_not_defined - 4/5 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - 2 - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 ENSG00000099246 Transcript ENST00000535776.6 protein_coding - 5/7 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - 2 - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000611151.5 nonsense_mediated_decay - 3/5 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - 5 - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 ENSG00000099246 Transcript ENST00000621805.5 protein_coding - 5/7 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - 1 - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000682082.1 nonsense_mediated_decay - 4/7 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000682138.1 retained_intron - 2/2 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682173.1 nonsense_mediated_decay - 1/2 - - - - - - - rs142609338 - 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000682181.1 nonsense_mediated_decay - 5/7 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682347.1 protein_coding - - - - - - - - - rs142609338 199 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682389.1 protein_coding - 3/4 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000682518.1 retained_intron - 2/3 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000682668.1 nonsense_mediated_decay - 5/7 - - - - - - - rs142609338 - 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A non_coding_transcript_exon_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682777.1 retained_intron 1/2 - - - 1346-1347 - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A downstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682821.1 protein_coding_CDS_not_defined - - - - - - - - - rs142609338 475 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000682852.1 nonsense_mediated_decay - 4/6 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 ENSG00000099246 Transcript ENST00000682963.1 protein_coding - 1/3 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683030.1 protein_coding - - - - - - - - - rs142609338 4147 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000683042.1 retained_intron - 4/5 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000683088.1 protein_coding_CDS_not_defined - 1/1 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000683385.1 retained_intron - 1/2 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000683419.1 nonsense_mediated_decay - 3/4 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000683446.1 retained_intron - 1/3 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000683538.1 nonsense_mediated_decay - 5/7 - - - - - - - rs142609338 - 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A downstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683574.1 protein_coding_CDS_not_defined - - - - - - - - - rs142609338 1149 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 ENSG00000099246 Transcript ENST00000683755.1 protein_coding - 4/6 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 ENSG00000099246 Transcript ENST00000683797.1 protein_coding - 4/6 - - - - - - - rs142609338 - 1 cds_end_NF HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683816.1 nonsense_mediated_decay - 3/4 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000683866.1 nonsense_mediated_decay - 1/2 - - - - - - - rs142609338 - 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683915.1 protein_coding - - - - - - - - - rs142609338 4147 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 ENSG00000099246 Transcript ENST00000683924.1 protein_coding - 1/3 - - - - - - - rs142609338 - 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A non_coding_transcript_exon_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000684134.1 retained_intron 1/3 - - - 5213-5214 - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000684191.1 nonsense_mediated_decay - - - - - - - - - rs142609338 199 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW RAB18 ENSG00000099246 Transcript ENST00000684393.1 nonsense_mediated_decay - 5/7 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000684457.1 nonsense_mediated_decay - - - - - - - - - rs142609338 4147 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 ENSG00000099246 Transcript ENST00000684501.1 protein_coding - 4/5 - - - - - - - rs142609338 - 1 - HGNC HGNC:14244 - - - - - Ensembl - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 22931 Transcript NM_001256410.2 protein_coding - 5/7 - - - - - - - rs142609338 - 1 - EntrezGene HGNC:14244 - - - - - RefSeq - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 22931 Transcript NM_001256411.2 protein_coding - 4/5 - - - - - - - rs142609338 - 1 - EntrezGene HGNC:14244 - - - - - RefSeq - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A intron_variant MODIFIER RAB18 22931 Transcript NM_001256412.2 protein_coding - 3/4 - - - - - - - rs142609338 - 1 - EntrezGene HGNC:14244 - - - - - RefSeq - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW RAB18 22931 Transcript NM_021252.5 protein_coding - 4/6 - - - - - - - rs142609338 - 1 - EntrezGene HGNC:14244 ENST00000356940.11 - - - - RefSeq - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533727-27533728 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW RAB18 22931 Transcript NR_046172.2 misc_RNA - 3/5 - - - - - - - rs142609338 - 1 - EntrezGene HGNC:14244 - - - - - RefSeq - - - - - - 0.0929 benign - 1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000356940.11 protein_coding - 5/6 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 NM_021252.5 - 1 P1 - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000375802.7 protein_coding - 3/4 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - 5 - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A downstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000423465.2 protein_coding - - - - - - - - - rs2242356,COSV63613257 71 1 cds_end_NF HGNC HGNC:14244 - - 5 - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,non_coding_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000465772.5 protein_coding_CDS_not_defined - 5/5 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - 2 - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000535776.6 protein_coding - 6/7 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - 2 - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000611151.5 nonsense_mediated_decay - 4/5 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - 5 - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000621805.5 protein_coding - 6/7 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - 1 - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682082.1 nonsense_mediated_decay - 5/7 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A downstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682138.1 retained_intron - - - - - - - - - rs2242356,COSV63613257 117 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682173.1 nonsense_mediated_decay - 1/2 - - - - - - - rs2242356,COSV63613257 - 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682181.1 nonsense_mediated_decay - 6/7 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682347.1 protein_coding - - - - - - - - - rs2242356,COSV63613257 41 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682389.1 protein_coding - 3/4 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A non_coding_transcript_exon_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682518.1 retained_intron 3/4 - - - 353 - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682668.1 nonsense_mediated_decay - 6/7 - - - - - - - rs2242356,COSV63613257 - 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A non_coding_transcript_exon_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682777.1 retained_intron 1/2 - - - 1505 - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A downstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682821.1 protein_coding_CDS_not_defined - - - - - - - - - rs2242356,COSV63613257 634 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682852.1 nonsense_mediated_decay - 5/6 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000682963.1 protein_coding - 2/3 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683030.1 protein_coding - - - - - - - - - rs2242356,COSV63613257 3989 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A non_coding_transcript_exon_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683042.1 retained_intron 5/6 - - - 496 - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A downstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683088.1 protein_coding_CDS_not_defined - - - - - - - - - rs2242356,COSV63613257 34 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A non_coding_transcript_exon_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683385.1 retained_intron 2/3 - - - 245 - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683419.1 nonsense_mediated_decay - 4/4 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,non_coding_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683446.1 retained_intron - 2/3 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683538.1 nonsense_mediated_decay - 6/7 - - - - - - - rs2242356,COSV63613257 - 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A downstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683574.1 protein_coding_CDS_not_defined - - - - - - - - - rs2242356,COSV63613257 1308 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683755.1 protein_coding - 5/6 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683797.1 protein_coding - 5/6 - - - - - - - rs2242356,COSV63613257 - 1 cds_end_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683816.1 nonsense_mediated_decay - 3/4 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683866.1 nonsense_mediated_decay - 2/2 - - - - - - - rs2242356,COSV63613257 - 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683915.1 protein_coding - - - - - - - - - rs2242356,COSV63613257 3989 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000683924.1 protein_coding - 2/3 - - - - - - - rs2242356,COSV63613257 - 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,non_coding_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000684134.1 retained_intron - 1/2 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000684191.1 nonsense_mediated_decay - - - - - - - - - rs2242356,COSV63613257 41 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,NMD_transcript_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000684393.1 nonsense_mediated_decay - 6/7 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A upstream_gene_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000684457.1 nonsense_mediated_decay - - - - - - - - - rs2242356,COSV63613257 3989 1 cds_start_NF HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 ENSG00000099246 Transcript ENST00000684501.1 protein_coding - 5/5 - - - - - - - rs2242356,COSV63613257 - 1 - HGNC HGNC:14244 - - - - - Ensembl - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 22931 Transcript NM_001256410.2 protein_coding - 6/7 - - - - - - - rs2242356,COSV63613257 - 1 - EntrezGene HGNC:14244 - - - - - RefSeq - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 22931 Transcript NM_001256411.2 protein_coding - 5/5 - - - - - - - rs2242356,COSV63613257 - 1 - EntrezGene HGNC:14244 - - - - - RefSeq - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 22931 Transcript NM_001256412.2 protein_coding - 3/4 - - - - - - - rs2242356,COSV63613257 - 1 - EntrezGene HGNC:14244 - - - - - RefSeq - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant MODIFIER RAB18 22931 Transcript NM_021252.5 protein_coding - 5/6 - - - - - - - rs2242356,COSV63613257 - 1 - EntrezGene HGNC:14244 ENST00000356940.11 - - - - RefSeq - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27533887-27533887 A intron_variant,non_coding_transcript_variant MODIFIER RAB18 22931 Transcript NR_046172.2 misc_RNA - 4/5 - - - - - - - rs2242356,COSV63613257 - 1 - EntrezGene HGNC:14244 - - - - - RefSeq - T T - - - 0.0909 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 ENSG00000169126 Transcript ENST00000305242.10 protein_coding 20/20 - - - 3245 3121 1041 A/S Gca/Tca rs3737184,COSV59459467 - -1 - HGNC HGNC:25583 NM_018076.5 - 1 P1 - Ensembl - C C - tolerated(0.05) benign(0.076) 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A non_coding_transcript_exon_variant MODIFIER ODAD2 ENSG00000169126 Transcript ENST00000467083.1 protein_coding_CDS_not_defined 2/2 - - - 270 - - - - rs3737184,COSV59459467 - -1 - HGNC HGNC:25583 - - 3 - - Ensembl - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A non_coding_transcript_exon_variant MODIFIER ODAD2 ENSG00000169126 Transcript ENST00000481659.1 retained_intron 2/2 - - - 283 - - - - rs3737184,COSV59459467 - -1 - HGNC HGNC:25583 - - 2 - - Ensembl - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 ENSG00000169126 Transcript ENST00000671855.1 protein_coding 3/3 - - - 200 202 68 A/S Gca/Tca rs3737184,COSV59459467 - -1 cds_start_NF HGNC HGNC:25583 - - - - - Ensembl - C C - deleterious(0.05) benign(0.116) 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 ENSG00000169126 Transcript ENST00000672841.1 protein_coding 15/15 - - - 2480 2197 733 A/S Gca/Tca rs3737184,COSV59459467 - -1 - HGNC HGNC:25583 - - - - - Ensembl - C C - tolerated(0.09) benign(0.076) 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A non_coding_transcript_exon_variant MODIFIER ODAD2 ENSG00000169126 Transcript ENST00000672864.1 protein_coding_CDS_not_defined 2/2 - - - 418 - - - - rs3737184,COSV59459467 - -1 - HGNC HGNC:25583 - - - - - Ensembl - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 ENSG00000169126 Transcript ENST00000672877.1 protein_coding 14/14 - - - 2165 1818 606 R/S agG/agT rs3737184,COSV59459467 - -1 - HGNC HGNC:25583 - - - - - Ensembl - C C - deleterious_low_confidence(0) benign(0) 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A intron_variant,NMD_transcript_variant MODIFIER ODAD2 ENSG00000169126 Transcript ENST00000673384.1 nonsense_mediated_decay - 14/17 - - - - - - - rs3737184,COSV59459467 - -1 - HGNC HGNC:25583 - - - - - Ensembl - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 ENSG00000169126 Transcript ENST00000673439.1 protein_coding 20/20 - - - 3219 3121 1041 A/S Gca/Tca rs3737184,COSV59459467 - -1 - HGNC HGNC:25583 - - - P1 - Ensembl - C C - tolerated(0.05) benign(0.076) 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript NM_001290020.2 protein_coding 20/20 - - - 3254 3121 1041 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - tolerated(0.05) benign(0.076) 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript NM_001290021.2 protein_coding 14/14 - - - 2165 1818 606 R/S agG/agT rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - deleterious_low_confidence(0) benign(0) 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript NM_001312689.2 protein_coding 15/15 - - - 2384 2197 733 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - tolerated(0.09) benign(0.076) 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript NM_018076.5 protein_coding 20/20 - - - 3245 3121 1041 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 ENST00000305242.10 - - - - RefSeq - C C - tolerated(0.05) benign(0.076) 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_011519527.2 protein_coding 21/21 - - - 3314 3181 1061 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_024448049.2 protein_coding 22/22 - - - 3443 3310 1104 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_024448050.2 protein_coding 23/23 - - - 3860 3310 1104 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_024448051.2 protein_coding 22/22 - - - 3434 3310 1104 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_024448052.2 protein_coding 22/22 - - - 3525 3310 1104 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_024448053.2 protein_coding 21/21 - - - 3383 3250 1084 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_024448055.2 protein_coding 17/17 - - - 2573 2386 796 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_024448056.2 protein_coding 17/17 - - - 2534 2386 796 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_024448057.2 protein_coding 16/16 - - - 2456 2224 742 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_024448058.2 protein_coding 13/13 - - - 2193 1885 629 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425401.1 protein_coding 21/21 - - - 3305 3181 1061 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425402.1 protein_coding 21/21 - - - 4444 3121 1041 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - tolerated(0.05) benign(0.076) 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425403.1 protein_coding 19/19 - - - 3590 3121 1041 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - tolerated(0.05) benign(0.076) 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425404.1 protein_coding 20/20 - - - 3350 3121 1041 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - tolerated(0.05) benign(0.076) 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425405.1 protein_coding 21/21 - - - 3224 3100 1034 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425407.1 protein_coding 20/20 - - - 3104 2971 991 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425408.1 protein_coding 20/20 - - - 3095 2971 991 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425409.1 protein_coding 19/19 - - - 3044 2911 971 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425410.1 protein_coding 19/19 - - - 3035 2911 971 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425411.1 protein_coding 19/19 - - - 3096 2749 917 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425412.1 protein_coding 18/18 - - - 3418 2749 917 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425413.1 protein_coding 19/19 - - - 3087 2749 917 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27812526-27812526 A missense_variant MODERATE ODAD2 55130 Transcript XM_047425414.1 protein_coding 18/18 - - - 2877 2539 847 A/S Gca/Tca rs3737184,COSV59459467 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - C C - - - 0.0765 benign 0,1 1,1 - - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 ENSG00000169126 Transcript ENST00000305242.10 protein_coding 8/20 - - - 1152 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - HGNC HGNC:25583 NM_018076.5 - 1 P1 - Ensembl - A A - tolerated(0.4) benign(0.014) 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G non_coding_transcript_exon_variant MODIFIER ODAD2 ENSG00000169126 Transcript ENST00000434029.1 protein_coding_CDS_not_defined 6/10 - - - 710 - - - - rs4405206,COSV53463391 - -1 - HGNC HGNC:25583 - - 2 - - Ensembl - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 ENSG00000169126 Transcript ENST00000480504.1 protein_coding 3/6 - - - 285 104 35 I/T aTt/aCt rs4405206,COSV53463391 - -1 cds_end_NF HGNC HGNC:25583 - - 5 - - Ensembl - A A - tolerated(0.25) benign(0.014) 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 ENSG00000169126 Transcript ENST00000672841.1 protein_coding 3/15 - - - 387 104 35 I/T aTt/aCt rs4405206,COSV53463391 - -1 - HGNC HGNC:25583 - - - - - Ensembl - A A - tolerated_low_confidence(0.43) benign(0.014) 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G intron_variant MODIFIER ODAD2 ENSG00000169126 Transcript ENST00000672877.1 protein_coding - 2/13 - - - - - - - rs4405206,COSV53463391 - -1 - HGNC HGNC:25583 - - - - - Ensembl - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant,NMD_transcript_variant MODERATE ODAD2 ENSG00000169126 Transcript ENST00000673384.1 nonsense_mediated_decay 3/18 - - - 719 104 35 I/T aTt/aCt rs4405206,COSV53463391 - -1 - HGNC HGNC:25583 - - - - - Ensembl - A A - tolerated_low_confidence(0.41) benign(0.024) 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 ENSG00000169126 Transcript ENST00000673439.1 protein_coding 8/20 - - - 1126 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - HGNC HGNC:25583 - - - P1 - Ensembl - A A - tolerated(0.4) benign(0.014) 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 ENSG00000169126 Transcript ENST00000673512.1 protein_coding 2/3 - - - 432 104 35 I/T aTt/aCt rs4405206,COSV53463391 - -1 cds_end_NF HGNC HGNC:25583 - - - - - Ensembl - A A - tolerated(0.26) benign(0.014) 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript NM_001290020.2 protein_coding 8/20 - - - 1161 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - tolerated(0.4) benign(0.014) 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G intron_variant MODIFIER ODAD2 55130 Transcript NM_001290021.2 protein_coding - 2/13 - - - - - - - rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript NM_001312689.2 protein_coding 3/15 - - - 291 104 35 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - tolerated_low_confidence(0.43) benign(0.014) 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript NM_018076.5 protein_coding 8/20 - - - 1152 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 ENST00000305242.10 - - - - RefSeq - A A - tolerated(0.4) benign(0.014) 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_011519527.2 protein_coding 8/21 - - - 1161 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_017016371.2 protein_coding 8/15 - - - 1161 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_024448049.2 protein_coding 8/22 - - - 1161 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_024448050.2 protein_coding 9/23 - - - 1578 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_024448051.2 protein_coding 8/22 - - - 1152 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_024448052.2 protein_coding 8/22 - - - 1243 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_024448053.2 protein_coding 8/21 - - - 1161 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_024448055.2 protein_coding 3/17 - - - 291 104 35 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_024448056.2 protein_coding 3/17 - - - 252 104 35 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G 5_prime_UTR_variant MODIFIER ODAD2 55130 Transcript XM_024448057.2 protein_coding 2/16 - - - 174 - - - - rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425401.1 protein_coding 8/21 - - - 1152 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425402.1 protein_coding 9/21 - - - 2351 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - tolerated(0.4) benign(0.014) 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425403.1 protein_coding 7/19 - - - 1497 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - tolerated(0.4) benign(0.014) 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425404.1 protein_coding 8/20 - - - 1257 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - tolerated(0.4) benign(0.014) 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425405.1 protein_coding 8/21 - - - 1152 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425407.1 protein_coding 8/20 - - - 1161 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425408.1 protein_coding 8/20 - - - 1152 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425409.1 protein_coding 8/19 - - - 1161 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425410.1 protein_coding 8/19 - - - 1152 1028 343 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425411.1 protein_coding 7/19 - - - 1003 656 219 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425412.1 protein_coding 6/18 - - - 1325 656 219 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425413.1 protein_coding 7/19 - - - 994 656 219 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:27971222-27971222 G missense_variant MODERATE ODAD2 55130 Transcript XM_047425414.1 protein_coding 7/18 - - - 994 656 219 I/T aTt/aCt rs4405206,COSV53463391 - -1 - EntrezGene HGNC:25583 - - - - - RefSeq - A A - - - 0.1348 benign 0,1 1,1 24033266 - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 ENSG00000150054 Transcript ENST00000337532.9 protein_coding - 11/17 - - - - - - - rs11006883 - -1 - HGNC HGNC:26542 - - 5 P1 - Ensembl - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 ENSG00000150054 Transcript ENST00000375719.7 protein_coding - 12/18 - - - - - - - rs11006883 - -1 - HGNC HGNC:26542 - - 1 P1 - Ensembl - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 ENSG00000150054 Transcript ENST00000375732.5 protein_coding - 10/16 - - - - - - - rs11006883 - -1 - HGNC HGNC:26542 - - 2 P1 - Ensembl - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 ENSG00000150054 Transcript ENST00000441595.2 protein_coding - 5/11 - - - - - - - rs11006883 - -1 cds_end_NF HGNC HGNC:26542 - - 5 - - Ensembl - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C downstream_gene_variant MODIFIER MPP7 ENSG00000150054 Transcript ENST00000481244.5 protein_coding_CDS_not_defined - - - - - - - - - rs11006883 4245 -1 - HGNC HGNC:26542 - - 5 - - Ensembl - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant,NMD_transcript_variant MODIFIER MPP7 ENSG00000150054 Transcript ENST00000496637.6 nonsense_mediated_decay - 9/15 - - - - - - - rs11006883 - -1 - HGNC HGNC:26542 - - 1 - - Ensembl - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 ENSG00000150054 Transcript ENST00000683449.1 protein_coding - 10/16 - - - - - - - rs11006883 - -1 - HGNC HGNC:26542 NM_001318170.2 - - P1 - Ensembl - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript NM_001318170.2 protein_coding - 10/16 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 ENST00000683449.1 - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript NM_173496.5 protein_coding - 12/18 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant,non_coding_transcript_variant MODIFIER MPP7 143098 Transcript NR_134517.2 misc_RNA - 10/16 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant,non_coding_transcript_variant MODIFIER MPP7 143098 Transcript NR_134518.2 misc_RNA - 9/16 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript XM_011519337.3 protein_coding - 11/17 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript XM_011519338.3 protein_coding - 9/15 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript XM_017015741.2 protein_coding - 9/15 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript XM_017015743.3 protein_coding - 9/10 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript XM_047424644.1 protein_coding - 11/17 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript XM_047424645.1 protein_coding - 11/17 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript XM_047424646.1 protein_coding - 10/16 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript XM_047424647.1 protein_coding - 10/16 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript XM_047424648.1 protein_coding - 12/18 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript XM_047424649.1 protein_coding - 10/16 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript XM_047424650.1 protein_coding - 12/13 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant MODIFIER MPP7 143098 Transcript XM_047424651.1 protein_coding - 12/13 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C intron_variant,non_coding_transcript_variant MODIFIER MPP7 143098 Transcript XR_007061944.1 misc_RNA - 9/12 - - - - - - - rs11006883 - -1 - EntrezGene HGNC:26542 - - - - - RefSeq - A A - - - 0.2053 - - - - - - - - - . 10:28119827-28119827 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001177624 enhancer - - - - - - - - - rs11006883 - - - - - - - - - - - - - - - - - 0.2053 - - - - - - - - - . 10:28899176-28899176 A non_coding_transcript_exon_variant MODIFIER RPL21P93 ENSG00000229605 Transcript ENST00000480465.1 processed_pseudogene 1/1 - - - 309 - - - - rs4098710 - -1 - HGNC HGNC:35646 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:28899176-28899176 A intron_variant,non_coding_transcript_variant MODIFIER LINC01517 ENSG00000232624 Transcript ENST00000643204.1 lncRNA - 4/9 - - - - - - - rs4098710 - 1 - HGNC HGNC:51212 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:28899176-28899176 A intron_variant,non_coding_transcript_variant MODIFIER LINC01517 ENSG00000232624 Transcript ENST00000644731.1 lncRNA - 4/10 - - - - - - - rs4098710 - 1 - HGNC HGNC:51212 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:28899176-28899176 A intron_variant,non_coding_transcript_variant MODIFIER LINC01517 ENSG00000232624 Transcript ENST00000646289.1 lncRNA - 2/7 - - - - - - - rs4098710 - 1 - HGNC HGNC:51212 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:28899458-28899458 T non_coding_transcript_exon_variant MODIFIER RPL21P93 ENSG00000229605 Transcript ENST00000480465.1 processed_pseudogene 1/1 - - - 27 - - - - rs2797462 - -1 - HGNC HGNC:35646 - - - - - Ensembl - C C - - - 0.9786 - - - - - - - - - . 10:28899458-28899458 T intron_variant,non_coding_transcript_variant MODIFIER LINC01517 ENSG00000232624 Transcript ENST00000643204.1 lncRNA - 4/9 - - - - - - - rs2797462 - 1 - HGNC HGNC:51212 - - - - - Ensembl - C C - - - 0.9786 - - - - - - - - - . 10:28899458-28899458 T intron_variant,non_coding_transcript_variant MODIFIER LINC01517 ENSG00000232624 Transcript ENST00000644731.1 lncRNA - 4/10 - - - - - - - rs2797462 - 1 - HGNC HGNC:51212 - - - - - Ensembl - C C - - - 0.9786 - - - - - - - - - . 10:28899458-28899458 T intron_variant,non_coding_transcript_variant MODIFIER LINC01517 ENSG00000232624 Transcript ENST00000646289.1 lncRNA - 2/7 - - - - - - - rs2797462 - 1 - HGNC HGNC:51212 - - - - - Ensembl - C C - - - 0.9786 - - - - - - - - - . 10:29310951-29310951 T intron_variant MODIFIER LYZL1 ENSG00000120563 Transcript ENST00000375500.8 protein_coding - 4/4 - - - - - - - rs41283736 - 1 - HGNC HGNC:30502 - - 1 - - Ensembl - C C - - - 0.0667 - - - - - - - - - . 10:29310951-29310951 T intron_variant,NMD_transcript_variant MODIFIER LYZL1 ENSG00000120563 Transcript ENST00000494304.1 nonsense_mediated_decay - 3/4 - - - - - - - rs41283736 - 1 cds_start_NF HGNC HGNC:30502 - - 3 - - Ensembl - C C - - - 0.0667 - - - - - - - - - . 10:29310951-29310951 T intron_variant MODIFIER LYZL1 ENSG00000120563 Transcript ENST00000649382.2 protein_coding - 4/4 - - - - - - - rs41283736 - 1 - HGNC HGNC:30502 NM_032517.6 - - P1 - Ensembl - C C - - - 0.0667 - - - - - - - - - . 10:29310951-29310951 T intron_variant MODIFIER LYZL1 84569 Transcript NM_032517.6 protein_coding - 4/4 - - - - - - - rs41283736 - 1 - EntrezGene HGNC:30502 ENST00000649382.2 - - - - RefSeq - C C - - - 0.0667 - - - - - - - - - . 10:29310951-29310951 T intron_variant MODIFIER LYZL1 84569 Transcript XM_005252627.4 protein_coding - 4/4 - - - - - - - rs41283736 - 1 - EntrezGene HGNC:30502 - - - - - RefSeq - C C - - - 0.0667 - - - - - - - - - . 10:29310951-29310951 T downstream_gene_variant MODIFIER LOC124902400 124902400 Transcript XR_007062098.1 lncRNA - - - - - - - - - rs41283736 1611 -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.0667 - - - - - - - - - . 10:29310951-29310951 T intron_variant,non_coding_transcript_variant MODIFIER LYZL1 84569 Transcript XR_428650.2 misc_RNA - 4/5 - - - - - - - rs41283736 - 1 - EntrezGene HGNC:30502 - - - - - RefSeq - C C - - - 0.0667 - - - - - - - - - . 10:29310951-29310951 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000399604 enhancer - - - - - - - - - rs41283736 - - - - - - - - - - - - - - - - - 0.0667 - - - - - - - - - . 10:29311043-29311043 A missense_variant MODERATE LYZL1 ENSG00000120563 Transcript ENST00000375500.8 protein_coding 5/5 - - - 626 569 190 G/D gGc/gAc rs41289053,COSV64967046 - 1 - HGNC HGNC:30502 - - 1 - - Ensembl - G G - deleterious(0.04) probably_damaging(0.961) 0.0789 - 0,1 0,1 - - - - - - . 10:29311043-29311043 A intron_variant,NMD_transcript_variant MODIFIER LYZL1 ENSG00000120563 Transcript ENST00000494304.1 nonsense_mediated_decay - 3/4 - - - - - - - rs41289053,COSV64967046 - 1 cds_start_NF HGNC HGNC:30502 - - 3 - - Ensembl - G G - - - 0.0789 - 0,1 0,1 - - - - - - . 10:29311043-29311043 A missense_variant MODERATE LYZL1 ENSG00000120563 Transcript ENST00000649382.2 protein_coding 5/5 - - - 617 431 144 G/D gGc/gAc rs41289053,COSV64967046 - 1 - HGNC HGNC:30502 NM_032517.6 - - P1 - Ensembl - G G - tolerated(0.05) possibly_damaging(0.825) 0.0789 - 0,1 0,1 - - - - - - . 10:29311043-29311043 A missense_variant MODERATE LYZL1 84569 Transcript NM_032517.6 protein_coding 5/5 - - - 617 431 144 G/D gGc/gAc rs41289053,COSV64967046 - 1 - EntrezGene HGNC:30502 ENST00000649382.2 - - - - RefSeq - G G - tolerated(0.05) possibly_damaging(0.825) 0.0789 - 0,1 0,1 - - - - - - . 10:29311043-29311043 A intron_variant MODIFIER LYZL1 84569 Transcript XM_005252627.4 protein_coding - 4/4 - - - - - - - rs41289053,COSV64967046 - 1 - EntrezGene HGNC:30502 - - - - - RefSeq - G G - - - 0.0789 - 0,1 0,1 - - - - - - . 10:29311043-29311043 A downstream_gene_variant MODIFIER LOC124902400 124902400 Transcript XR_007062098.1 lncRNA - - - - - - - - - rs41289053,COSV64967046 1519 -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.0789 - 0,1 0,1 - - - - - - . 10:29311043-29311043 A intron_variant,non_coding_transcript_variant MODIFIER LYZL1 84569 Transcript XR_428650.2 misc_RNA - 4/5 - - - - - - - rs41289053,COSV64967046 - 1 - EntrezGene HGNC:30502 - - - - - RefSeq - G G - - - 0.0789 - 0,1 0,1 - - - - - - . 10:29311141-29311141 A 3_prime_UTR_variant MODIFIER LYZL1 ENSG00000120563 Transcript ENST00000375500.8 protein_coding 5/5 - - - 724 - - - - rs41283738,COSV64966965 - 1 - HGNC HGNC:30502 - - 1 - - Ensembl - G G - - - 0.0789 - 0,1 0,1 - - - - - - . 10:29311141-29311141 A intron_variant,NMD_transcript_variant MODIFIER LYZL1 ENSG00000120563 Transcript ENST00000494304.1 nonsense_mediated_decay - 3/4 - - - - - - - rs41283738,COSV64966965 - 1 cds_start_NF HGNC HGNC:30502 - - 3 - - Ensembl - G G - - - 0.0789 - 0,1 0,1 - - - - - - . 10:29311141-29311141 A 3_prime_UTR_variant MODIFIER LYZL1 ENSG00000120563 Transcript ENST00000649382.2 protein_coding 5/5 - - - 715 - - - - rs41283738,COSV64966965 - 1 - HGNC HGNC:30502 NM_032517.6 - - P1 - Ensembl - G G - - - 0.0789 - 0,1 0,1 - - - - - - . 10:29311141-29311141 A 3_prime_UTR_variant MODIFIER LYZL1 84569 Transcript NM_032517.6 protein_coding 5/5 - - - 715 - - - - rs41283738,COSV64966965 - 1 - EntrezGene HGNC:30502 ENST00000649382.2 - - - - RefSeq - G G - - - 0.0789 - 0,1 0,1 - - - - - - . 10:29311141-29311141 A intron_variant MODIFIER LYZL1 84569 Transcript XM_005252627.4 protein_coding - 4/4 - - - - - - - rs41283738,COSV64966965 - 1 - EntrezGene HGNC:30502 - - - - - RefSeq - G G - - - 0.0789 - 0,1 0,1 - - - - - - . 10:29311141-29311141 A downstream_gene_variant MODIFIER LOC124902400 124902400 Transcript XR_007062098.1 lncRNA - - - - - - - - - rs41283738,COSV64966965 1421 -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.0789 - 0,1 0,1 - - - - - - . 10:29311141-29311141 A intron_variant,non_coding_transcript_variant MODIFIER LYZL1 84569 Transcript XR_428650.2 misc_RNA - 4/5 - - - - - - - rs41283738,COSV64966965 - 1 - EntrezGene HGNC:30502 - - - - - RefSeq - G G - - - 0.0789 - 0,1 0,1 - - - - - - . 10:29494884-29494884 A intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000355867.9 protein_coding - 20/37 - - - - - - - rs6481600,COSV63448124 - -1 - HGNC HGNC:11480 NM_021738.3 - 1 P3 - Ensembl - G G - - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494884-29494884 A intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000375398.6 protein_coding - 19/36 - - - - - - - rs6481600,COSV63448124 - -1 - HGNC HGNC:11480 - - 5 A2 - Ensembl - G G - - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494884-29494884 A intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000375400.7 protein_coding - 18/35 - - - - - - - rs6481600,COSV63448124 - -1 - HGNC HGNC:11480 - - 1 A2 - Ensembl - G G - - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494884-29494884 A intron_variant,non_coding_transcript_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000474106.5 protein_coding_CDS_not_defined - 3/4 - - - - - - - rs6481600,COSV63448124 - -1 - HGNC HGNC:11480 - - 4 - - Ensembl - G G - - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494884-29494884 A downstream_gene_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000491872.1 retained_intron - - - - - - - - - rs6481600,COSV63448124 96 -1 - HGNC HGNC:11480 - - 5 - - Ensembl - G G - - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494884-29494884 A intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000632315.1 protein_coding - 6/19 - - - - - - - rs6481600,COSV63448124 - -1 cds_start_NF,cds_end_NF HGNC HGNC:11480 - - 5 - - Ensembl - G G - - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494884-29494884 A intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000674475.1 protein_coding - 21/38 - - - - - - - rs6481600,COSV63448124 - -1 - HGNC HGNC:11480 - - - A2 - Ensembl - G G - - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494884-29494884 A intron_variant,non_coding_transcript_variant MODIFIER SVIL-AS1 ENSG00000291093 Transcript ENST00000684815.1 lncRNA - 2/2 - - - - - - - rs6481600,COSV63448124 - 1 - EntrezGene HGNC:51219 - - - - - Ensembl - G G - - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494884-29494884 A downstream_gene_variant MODIFIER SVIL-AS1 ENSG00000291093 Transcript ENST00000687838.2 lncRNA - - - - - - - - - rs6481600,COSV63448124 993 1 - EntrezGene HGNC:51219 - - - - - Ensembl - G G - - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494884-29494884 A intron_variant MODIFIER SVIL 6840 Transcript NM_001323599.2 protein_coding - 21/38 - - - - - - - rs6481600,COSV63448124 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - G G - - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494884-29494884 A intron_variant MODIFIER SVIL 6840 Transcript NM_001323600.1 protein_coding - 19/36 - - - - - - - rs6481600,COSV63448124 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - G G - - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494884-29494884 A intron_variant MODIFIER SVIL 6840 Transcript NM_003174.3 protein_coding - 18/35 - - - - - - - rs6481600,COSV63448124 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - G G OK - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494884-29494884 A intron_variant MODIFIER SVIL 6840 Transcript NM_021738.3 protein_coding - 20/37 - - - - - - - rs6481600,COSV63448124 - -1 - EntrezGene HGNC:11480 ENST00000355867.9 - - - - RefSeq - G G - - - 0.5703 benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G synonymous_variant LOW SVIL ENSG00000197321 Transcript ENST00000355867.9 protein_coding 20/38 - - - 4551 3799 1267 L Ttg/Ctg rs1056782,COSV63440874 - -1 - HGNC HGNC:11480 NM_021738.3 - 1 P3 - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G synonymous_variant LOW SVIL ENSG00000197321 Transcript ENST00000375398.6 protein_coding 19/37 - - - 4456 3703 1235 L Ttg/Ctg rs1056782,COSV63440874 - -1 - HGNC HGNC:11480 - - 5 A2 - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G synonymous_variant LOW SVIL ENSG00000197321 Transcript ENST00000375400.7 protein_coding 18/36 - - - 2974 2521 841 L Ttg/Ctg rs1056782,COSV63440874 - -1 - HGNC HGNC:11480 - - 1 A2 - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G non_coding_transcript_exon_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000474106.5 protein_coding_CDS_not_defined 3/5 - - - 229 - - - - rs1056782,COSV63440874 - -1 - HGNC HGNC:11480 - - 4 - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G downstream_gene_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000491872.1 retained_intron - - - - - - - - - rs1056782,COSV63440874 24 -1 - HGNC HGNC:11480 - - 5 - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G synonymous_variant LOW SVIL ENSG00000197321 Transcript ENST00000632315.1 protein_coding 6/20 - - - 576 577 193 L Ttg/Ctg rs1056782,COSV63440874 - -1 cds_start_NF,cds_end_NF HGNC HGNC:11480 - - 5 - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G synonymous_variant LOW SVIL ENSG00000197321 Transcript ENST00000674475.1 protein_coding 21/39 - - - 3543 2869 957 L Ttg/Ctg rs1056782,COSV63440874 - -1 - HGNC HGNC:11480 - - - A2 - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G intron_variant,non_coding_transcript_variant MODIFIER SVIL-AS1 ENSG00000291093 Transcript ENST00000684815.1 lncRNA - 2/2 - - - - - - - rs1056782,COSV63440874 - 1 - EntrezGene HGNC:51219 - - - - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G downstream_gene_variant MODIFIER SVIL-AS1 ENSG00000291093 Transcript ENST00000687838.2 lncRNA - - - - - - - - - rs1056782,COSV63440874 1065 1 - EntrezGene HGNC:51219 - - - - - Ensembl - A A - - - - benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G synonymous_variant LOW SVIL 6840 Transcript NM_001323599.2 protein_coding 21/39 - - - 3520 2869 957 L Ttg/Ctg rs1056782,COSV63440874 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - A A - - - - benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G synonymous_variant LOW SVIL 6840 Transcript NM_001323600.1 protein_coding 19/37 - - - 3186 2617 873 L Ttg/Ctg rs1056782,COSV63440874 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - A A - - - - benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G synonymous_variant LOW SVIL 6840 Transcript NM_003174.3 protein_coding 18/36 - - - 2971 2521 841 L Ttg/Ctg rs1056782,COSV63440874 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - A A OK - - - benign 0,1 1,1 - - - - - - . 10:29494956-29494956 G synonymous_variant LOW SVIL 6840 Transcript NM_021738.3 protein_coding 20/38 - - - 4551 3799 1267 L Ttg/Ctg rs1056782,COSV63440874 - -1 - EntrezGene HGNC:11480 ENST00000355867.9 - - - - RefSeq - A A - - - - benign 0,1 1,1 - - - - - - . 10:29551073-29551073 G synonymous_variant LOW SVIL ENSG00000197321 Transcript ENST00000355867.9 protein_coding 6/38 - - - 1103 351 117 A gcA/gcC rs766884198 - -1 - HGNC HGNC:11480 NM_021738.3 - 1 P3 - Ensembl - T T - - - - - - - - - - - - - . 10:29551073-29551073 G synonymous_variant LOW SVIL ENSG00000197321 Transcript ENST00000375398.6 protein_coding 6/37 - - - 1104 351 117 A gcA/gcC rs766884198 - -1 - HGNC HGNC:11480 - - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:29551073-29551073 G synonymous_variant LOW SVIL ENSG00000197321 Transcript ENST00000375400.7 protein_coding 8/36 - - - 804 351 117 A gcA/gcC rs766884198 - -1 - HGNC HGNC:11480 - - 1 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:29551073-29551073 G downstream_gene_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000483758.1 protein_coding_CDS_not_defined - - - - - - - - - rs766884198 4017 -1 - HGNC HGNC:11480 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:29551073-29551073 G downstream_gene_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000674350.1 protein_coding_CDS_not_defined - - - - - - - - - rs766884198 4006 -1 - HGNC HGNC:11480 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:29551073-29551073 G synonymous_variant LOW SVIL ENSG00000197321 Transcript ENST00000674475.1 protein_coding 8/39 - - - 1025 351 117 A gcA/gcC rs766884198 - -1 - HGNC HGNC:11480 - - - A2 - Ensembl - T T - - - - - - - - - - - - - . 10:29551073-29551073 G downstream_gene_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000674490.1 protein_coding - - - - - - - - - rs766884198 3979 -1 cds_end_NF HGNC HGNC:11480 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:29551073-29551073 G synonymous_variant LOW SVIL 6840 Transcript NM_001323599.2 protein_coding 8/39 - - - 1002 351 117 A gcA/gcC rs766884198 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:29551073-29551073 G synonymous_variant LOW SVIL 6840 Transcript NM_001323600.1 protein_coding 8/37 - - - 920 351 117 A gcA/gcC rs766884198 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:29551073-29551073 G synonymous_variant LOW SVIL 6840 Transcript NM_003174.3 protein_coding 8/36 - - - 801 351 117 A gcA/gcC rs766884198 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:29551073-29551073 G synonymous_variant LOW SVIL 6840 Transcript NM_021738.3 protein_coding 6/38 - - - 1103 351 117 A gcA/gcC rs766884198 - -1 - EntrezGene HGNC:11480 ENST00000355867.9 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:29697977-29697977 G intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000375400.7 protein_coding - 1/35 - - - - - - - rs11960566 - -1 - HGNC HGNC:11480 - - 1 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:29697977-29697977 G non_coding_transcript_exon_variant MODIFIER CKS1BP2 ENSG00000225976 Transcript ENST00000497342.1 processed_pseudogene 1/1 - - - 43 - - - - rs11960566 - 1 - HGNC HGNC:24232 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:29697977-29697977 G intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000674475.1 protein_coding - 1/38 - - - - - - - rs11960566 - -1 - HGNC HGNC:11480 - - - A2 - Ensembl - A A - - - - - - - - - - - - - . 10:29697977-29697977 G intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000674490.1 protein_coding - 1/5 - - - - - - - rs11960566 - -1 cds_end_NF HGNC HGNC:11480 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:29697977-29697977 G intron_variant MODIFIER SVIL 6840 Transcript NM_001323599.2 protein_coding - 1/38 - - - - - - - rs11960566 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:29697977-29697977 G intron_variant MODIFIER SVIL 6840 Transcript NM_001323600.1 protein_coding - 1/36 - - - - - - - rs11960566 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:29697977-29697977 G intron_variant MODIFIER SVIL 6840 Transcript NM_003174.3 protein_coding - 1/35 - - - - - - - rs11960566 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:29698043-29698043 T intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000375400.7 protein_coding - 1/35 - - - - - - - - - -1 - HGNC HGNC:11480 - - 1 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:29698043-29698043 T non_coding_transcript_exon_variant MODIFIER CKS1BP2 ENSG00000225976 Transcript ENST00000497342.1 processed_pseudogene 1/1 - - - 109 - - - - - - 1 - HGNC HGNC:24232 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:29698043-29698043 T intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000674475.1 protein_coding - 1/38 - - - - - - - - - -1 - HGNC HGNC:11480 - - - A2 - Ensembl - C C - - - - - - - - - - - - - . 10:29698043-29698043 T intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000674490.1 protein_coding - 1/5 - - - - - - - - - -1 cds_end_NF HGNC HGNC:11480 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:29698043-29698043 T intron_variant MODIFIER SVIL 6840 Transcript NM_001323599.2 protein_coding - 1/38 - - - - - - - - - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:29698043-29698043 T intron_variant MODIFIER SVIL 6840 Transcript NM_001323600.1 protein_coding - 1/36 - - - - - - - - - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:29698043-29698043 T intron_variant MODIFIER SVIL 6840 Transcript NM_003174.3 protein_coding - 1/35 - - - - - - - - - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:29698076-29698076 A intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000375400.7 protein_coding - 1/35 - - - - - - - rs201681669 - -1 - HGNC HGNC:11480 - - 1 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:29698076-29698076 A non_coding_transcript_exon_variant MODIFIER CKS1BP2 ENSG00000225976 Transcript ENST00000497342.1 processed_pseudogene 1/1 - - - 142 - - - - rs201681669 - 1 - HGNC HGNC:24232 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:29698076-29698076 A intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000674475.1 protein_coding - 1/38 - - - - - - - rs201681669 - -1 - HGNC HGNC:11480 - - - A2 - Ensembl - G G - - - - - - - - - - - - - . 10:29698076-29698076 A intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000674490.1 protein_coding - 1/5 - - - - - - - rs201681669 - -1 cds_end_NF HGNC HGNC:11480 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:29698076-29698076 A intron_variant MODIFIER SVIL 6840 Transcript NM_001323599.2 protein_coding - 1/38 - - - - - - - rs201681669 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:29698076-29698076 A intron_variant MODIFIER SVIL 6840 Transcript NM_001323600.1 protein_coding - 1/36 - - - - - - - rs201681669 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:29698076-29698076 A intron_variant MODIFIER SVIL 6840 Transcript NM_003174.3 protein_coding - 1/35 - - - - - - - rs201681669 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:29698225-29698225 C intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000375400.7 protein_coding - 1/35 - - - - - - - rs1752580,COSV64819212 - -1 - HGNC HGNC:11480 - - 1 A2 - Ensembl - T T - - - 0.0769 - 0,1 0,1 - - - - - - . 10:29698225-29698225 C downstream_gene_variant MODIFIER CKS1BP2 ENSG00000225976 Transcript ENST00000497342.1 processed_pseudogene - - - - - - - - - rs1752580,COSV64819212 51 1 - HGNC HGNC:24232 - - - - - Ensembl - T T - - - 0.0769 - 0,1 0,1 - - - - - - . 10:29698225-29698225 C intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000674475.1 protein_coding - 1/38 - - - - - - - rs1752580,COSV64819212 - -1 - HGNC HGNC:11480 - - - A2 - Ensembl - T T - - - 0.0769 - 0,1 0,1 - - - - - - . 10:29698225-29698225 C intron_variant MODIFIER SVIL ENSG00000197321 Transcript ENST00000674490.1 protein_coding - 1/5 - - - - - - - rs1752580,COSV64819212 - -1 cds_end_NF HGNC HGNC:11480 - - - - - Ensembl - T T - - - 0.0769 - 0,1 0,1 - - - - - - . 10:29698225-29698225 C intron_variant MODIFIER SVIL 6840 Transcript NM_001323599.2 protein_coding - 1/38 - - - - - - - rs1752580,COSV64819212 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - T T - - - 0.0769 - 0,1 0,1 - - - - - - . 10:29698225-29698225 C intron_variant MODIFIER SVIL 6840 Transcript NM_001323600.1 protein_coding - 1/36 - - - - - - - rs1752580,COSV64819212 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - T T - - - 0.0769 - 0,1 0,1 - - - - - - . 10:29698225-29698225 C intron_variant MODIFIER SVIL 6840 Transcript NM_003174.3 protein_coding - 1/35 - - - - - - - rs1752580,COSV64819212 - -1 - EntrezGene HGNC:11480 - - - - - RefSeq - T T OK - - 0.0769 - 0,1 0,1 - - - - - - . 10:29698225-29698225 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001177746 enhancer - - - - - - - - - rs1752580,COSV64819212 - - - - - - - - - - - - - - - - - 0.0769 - 0,1 0,1 - - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 ENSG00000107968 Transcript ENST00000263056.6 protein_coding 3/9 - - - 683 234 78 Y taT/taC rs1042058,COSV53919808 - 1 - HGNC HGNC:6860 NM_005204.4 - 1 P1 - Ensembl - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 ENSG00000107968 Transcript ENST00000375321.1 protein_coding 1/7 - - - 351 234 78 Y taT/taC rs1042058,COSV53919808 - 1 - HGNC HGNC:6860 - - 1 P1 - Ensembl - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 ENSG00000107968 Transcript ENST00000375322.2 protein_coding 3/3 - - - 623 234 78 Y taT/taC rs1042058,COSV53919808 - 1 - HGNC HGNC:6860 - - 2 - - Ensembl - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 ENSG00000107968 Transcript ENST00000413724.5 protein_coding 2/4 - - - 341 234 78 Y taT/taC rs1042058,COSV53919808 - 1 cds_end_NF HGNC HGNC:6860 - - 3 - - Ensembl - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 ENSG00000107968 Transcript ENST00000415139.5 protein_coding 2/4 - - - 495 234 78 Y taT/taC rs1042058,COSV53919808 - 1 cds_end_NF HGNC HGNC:6860 - - 3 - - Ensembl - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C upstream_gene_variant MODIFIER MAP3K8 ENSG00000107968 Transcript ENST00000430603.1 retained_intron - - - - - - - - - rs1042058,COSV53919808 5 1 - HGNC HGNC:6860 - - 3 - - Ensembl - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 ENSG00000107968 Transcript ENST00000542547.5 protein_coding 2/8 - - - 615 234 78 Y taT/taC rs1042058,COSV53919808 - 1 - HGNC HGNC:6860 - - 1 P1 - Ensembl - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 1326 Transcript NM_001244134.1 protein_coding 2/8 - - - 615 234 78 Y taT/taC rs1042058,COSV53919808 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - T T OK - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 1326 Transcript NM_001320961.2 protein_coding 2/8 - - - 360 234 78 Y taT/taC rs1042058,COSV53919808 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 1326 Transcript NM_005204.4 protein_coding 3/9 - - - 683 234 78 Y taT/taC rs1042058,COSV53919808 - 1 - EntrezGene HGNC:6860 ENST00000263056.6 - - - - RefSeq - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 1326 Transcript XM_017015709.3 protein_coding 2/8 - - - 819 234 78 Y taT/taC rs1042058,COSV53919808 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 1326 Transcript XM_017015710.1 protein_coding 2/8 - - - 466 234 78 Y taT/taC rs1042058,COSV53919808 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C upstream_gene_variant MODIFIER MAP3K8 1326 Transcript XM_017015714.2 protein_coding - - - - - - - - - rs1042058,COSV53919808 3319 1 - EntrezGene HGNC:6860 - - - - - RefSeq - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 1326 Transcript XM_047424622.1 protein_coding 3/9 - - - 573 234 78 Y taT/taC rs1042058,COSV53919808 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 1326 Transcript XM_047424623.1 protein_coding 3/9 - - - 828 234 78 Y taT/taC rs1042058,COSV53919808 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439172-30439172 C synonymous_variant LOW MAP3K8 1326 Transcript XM_047424624.1 protein_coding 3/9 - - - 727 234 78 Y taT/taC rs1042058,COSV53919808 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - T T - - - 0.3528 benign 0,1 1,1 27156530,28300425,18091754,26215868,28067908,25316791,26192919,28450278,23128233,26255561,34944097,36281999,34021560 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 ENSG00000107968 Transcript ENST00000263056.6 protein_coding - 3/8 - - - - - - - rs2907,COSV53919827 - 1 - HGNC HGNC:6860 NM_005204.4 - 1 P1 - Ensembl - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 ENSG00000107968 Transcript ENST00000375321.1 protein_coding - 1/6 - - - - - - - rs2907,COSV53919827 - 1 - HGNC HGNC:6860 - - 1 P1 - Ensembl - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G missense_variant MODERATE MAP3K8 ENSG00000107968 Transcript ENST00000375322.2 protein_coding 3/3 - - - 772 383 128 Y/C tAc/tGc rs2907,COSV53919827 - 1 - HGNC HGNC:6860 - - 2 - - Ensembl - A A - - unknown(0) 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 ENSG00000107968 Transcript ENST00000413724.5 protein_coding - 2/3 - - - - - - - rs2907,COSV53919827 - 1 cds_end_NF HGNC HGNC:6860 - - 3 - - Ensembl - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 ENSG00000107968 Transcript ENST00000415139.5 protein_coding - 2/3 - - - - - - - rs2907,COSV53919827 - 1 cds_end_NF HGNC HGNC:6860 - - 3 - - Ensembl - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant,non_coding_transcript_variant MODIFIER MAP3K8 ENSG00000107968 Transcript ENST00000430603.1 retained_intron - 1/2 - - - - - - - rs2907,COSV53919827 - 1 - HGNC HGNC:6860 - - 3 - - Ensembl - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 ENSG00000107968 Transcript ENST00000542547.5 protein_coding - 2/7 - - - - - - - rs2907,COSV53919827 - 1 - HGNC HGNC:6860 - - 1 P1 - Ensembl - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 1326 Transcript NM_001244134.1 protein_coding - 2/7 - - - - - - - rs2907,COSV53919827 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - A A OK - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 1326 Transcript NM_001320961.2 protein_coding - 2/7 - - - - - - - rs2907,COSV53919827 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 1326 Transcript NM_005204.4 protein_coding - 3/8 - - - - - - - rs2907,COSV53919827 - 1 - EntrezGene HGNC:6860 ENST00000263056.6 - - - - RefSeq - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 1326 Transcript XM_017015709.3 protein_coding - 2/7 - - - - - - - rs2907,COSV53919827 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 1326 Transcript XM_017015710.1 protein_coding - 2/7 - - - - - - - rs2907,COSV53919827 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G upstream_gene_variant MODIFIER MAP3K8 1326 Transcript XM_017015714.2 protein_coding - - - - - - - - - rs2907,COSV53919827 3170 1 - EntrezGene HGNC:6860 - - - - - RefSeq - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 1326 Transcript XM_047424622.1 protein_coding - 3/8 - - - - - - - rs2907,COSV53919827 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 1326 Transcript XM_047424623.1 protein_coding - 3/8 - - - - - - - rs2907,COSV53919827 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30439321-30439321 G intron_variant MODIFIER MAP3K8 1326 Transcript XM_047424624.1 protein_coding - 3/8 - - - - - - - rs2907,COSV53919827 - 1 - EntrezGene HGNC:6860 - - - - - RefSeq - A A - - - 0.3638 benign 0,1 1,1 26215868 - - - - - . 10:30518409-30518409 G non_coding_transcript_exon_variant MODIFIER HNRNPA1P32 ENSG00000213778 Transcript ENST00000396326.2 processed_pseudogene 1/2 - - - 453 - - - - rs2009540 - -1 - HGNC HGNC:44958 - - - - - Ensembl - A A - - - 0.8237 - - - - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 ENSG00000183621 Transcript ENST00000331737.10 protein_coding 7/8 - - - 946 487 163 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - HGNC HGNC:21029 - - 1 P2 - Ensembl - G G - tolerated(1) benign(0.009) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 ENSG00000183621 Transcript ENST00000361310.7 protein_coding 6/7 - - - 847 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - HGNC HGNC:21029 - - 1 A2 - Ensembl - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A intron_variant MODIFIER ZNF438 ENSG00000183621 Transcript ENST00000375311.1 protein_coding - 5/6 - - - - - - - rs10160116,COSV59195695 - -1 - HGNC HGNC:21029 - - 2 A2 - Ensembl - G G - - - 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 ENSG00000183621 Transcript ENST00000413025.5 protein_coding 5/6 - - - 813 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - HGNC HGNC:21029 - - 5 A2 - Ensembl - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 ENSG00000183621 Transcript ENST00000436087.7 protein_coding 6/7 - - - 799 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - HGNC HGNC:21029 NM_001143768.2 - 5 A2 - Ensembl - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 ENSG00000183621 Transcript ENST00000442986.5 protein_coding 7/8 - - - 952 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - HGNC HGNC:21029 - - 5 A2 - Ensembl - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 ENSG00000183621 Transcript ENST00000452305.5 protein_coding 8/9 - - - 1051 487 163 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - HGNC HGNC:21029 - - 5 P2 - Ensembl - G G - tolerated(1) benign(0.009) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 ENSG00000183621 Transcript ENST00000538351.6 protein_coding 7/8 - - - 1125 370 124 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - HGNC HGNC:21029 - - 2 A2 - Ensembl - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A intron_variant,NMD_transcript_variant MODIFIER ZNF438 ENSG00000183621 Transcript ENST00000609683.5 nonsense_mediated_decay - 4/7 - - - - - - - rs10160116,COSV59195695 - -1 - HGNC HGNC:21029 - - 3 - - Ensembl - G G - - - 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript NM_001143766.2 protein_coding 7/8 - - - 928 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript NM_001143767.2 protein_coding 5/6 - - - 741 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript NM_001143768.2 protein_coding 6/7 - - - 799 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 ENST00000436087.7 - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript NM_001143769.2 protein_coding 7/8 - - - 1128 370 124 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript NM_001143770.2 protein_coding 8/9 - - - 979 487 163 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.009) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript NM_001143771.2 protein_coding 7/8 - - - 950 487 163 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.009) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript NM_001387405.1 protein_coding 6/7 - - - 949 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript NM_001387411.1 protein_coding 4/5 - - - 664 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript NM_001387412.1 protein_coding 5/6 - - - 722 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript NM_182755.3 protein_coding 7/8 - - - 880 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A intron_variant,non_coding_transcript_variant MODIFIER ZNF438 220929 Transcript NR_026560.2 misc_RNA - 5/6 - - - - - - - rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - - - 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A intron_variant,non_coding_transcript_variant MODIFIER ZNF438 220929 Transcript NR_170659.1 misc_RNA - 4/5 - - - - - - - rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - - - 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A intron_variant,non_coding_transcript_variant MODIFIER ZNF438 220929 Transcript NR_170660.1 misc_RNA - 5/6 - - - - - - - rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - - - 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_006717399.4 protein_coding 7/8 - - - 898 487 163 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.009) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_011519372.3 protein_coding 6/7 - - - 1001 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_011519373.4 protein_coding 5/6 - - - 891 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_011519374.3 protein_coding 3/4 - - - 1076 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_011519376.3 protein_coding 8/9 - - - 1077 487 163 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.009) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_011519377.3 protein_coding 8/9 - - - 1073 487 163 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.009) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_017015863.3 protein_coding 3/4 - - - 717 550 184 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - - - 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_017015869.3 protein_coding 5/6 - - - 872 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_017015870.3 protein_coding 6/7 - - - 1802 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A intron_variant MODIFIER ZNF438 220929 Transcript XM_017015877.2 protein_coding - 7/8 - - - - - - - rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - - - 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_024447868.2 protein_coding 8/9 - - - 1009 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_024447869.2 protein_coding 7/8 - - - 1008 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_024447870.2 protein_coding 7/8 - - - 858 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_024447871.2 protein_coding 5/6 - - - 943 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_024447872.2 protein_coding 6/7 - - - 822 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_024447873.2 protein_coding 6/7 - - - 890 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424723.1 protein_coding 6/7 - - - 1095 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424724.1 protein_coding 7/8 - - - 948 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424725.1 protein_coding 7/8 - - - 1030 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424726.1 protein_coding 7/8 - - - 1078 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424727.1 protein_coding 8/9 - - - 1093 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424728.1 protein_coding 7/8 - - - 928 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424729.1 protein_coding 7/8 - - - 1038 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424730.1 protein_coding 8/9 - - - 987 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424731.1 protein_coding 8/9 - - - 1007 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424732.1 protein_coding 7/8 - - - 1078 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424733.1 protein_coding 6/7 - - - 1025 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424734.1 protein_coding 6/7 - - - 870 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424735.1 protein_coding 6/7 - - - 1020 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424736.1 protein_coding 6/7 - - - 1040 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424737.1 protein_coding 6/7 - - - 851 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424738.1 protein_coding 6/7 - - - 781 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424739.1 protein_coding 5/6 - - - 1080 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424740.1 protein_coding 6/7 - - - 775 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424741.1 protein_coding 4/5 - - - 658 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424742.1 protein_coding 7/8 - - - 3688 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424744.1 protein_coding 8/9 - - - 1035 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424745.1 protein_coding 9/10 - - - 12828 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424746.1 protein_coding 7/8 - - - 905 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424747.1 protein_coding 7/8 - - - 1154 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424748.1 protein_coding 7/8 - - - 862 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424749.1 protein_coding 6/7 - - - 3611 517 173 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30849888-30849888 A missense_variant MODERATE ZNF438 220929 Transcript XM_047424750.1 protein_coding 7/8 - - - 978 370 124 P/S Ccc/Tcc rs10160116,COSV59195695 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - G G - tolerated(1) benign(0.003) 0.3754 - 0,1 0,1 - - - - - - . 10:30857686-30857686 C start_lost HIGH ZNF438 ENSG00000183621 Transcript ENST00000331737.10 protein_coding 6/8 - - - 460 1 1 M/V Atg/Gtg rs16932010,COSV59192850 - -1 - HGNC HGNC:21029 - - 1 P2 - Ensembl - T T - tolerated_low_confidence(0.2) benign(0.006) 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 ENSG00000183621 Transcript ENST00000361310.7 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - HGNC HGNC:21029 - - 1 A2 - Ensembl - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 ENSG00000183621 Transcript ENST00000375311.1 protein_coding - 4/6 - - - - - - - rs16932010,COSV59192850 - -1 - HGNC HGNC:21029 - - 2 A2 - Ensembl - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 ENSG00000183621 Transcript ENST00000413025.5 protein_coding - 4/5 - - - - - - - rs16932010,COSV59192850 - -1 - HGNC HGNC:21029 - - 5 A2 - Ensembl - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 ENSG00000183621 Transcript ENST00000436087.7 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - HGNC HGNC:21029 NM_001143768.2 - 5 A2 - Ensembl - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 ENSG00000183621 Transcript ENST00000442986.5 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - HGNC HGNC:21029 - - 5 A2 - Ensembl - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C start_lost HIGH ZNF438 ENSG00000183621 Transcript ENST00000452305.5 protein_coding 7/9 - - - 565 1 1 M/V Atg/Gtg rs16932010,COSV59192850 - -1 - HGNC HGNC:21029 - - 5 P2 - Ensembl - T T - tolerated_low_confidence(0.2) benign(0.006) 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 ENSG00000183621 Transcript ENST00000538351.6 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - HGNC HGNC:21029 - - 2 A2 - Ensembl - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant,NMD_transcript_variant MODIFIER ZNF438 ENSG00000183621 Transcript ENST00000609683.5 nonsense_mediated_decay - 3/7 - - - - - - - rs16932010,COSV59192850 - -1 - HGNC HGNC:21029 - - 3 - - Ensembl - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript NM_001143766.2 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript NM_001143767.2 protein_coding - 4/5 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript NM_001143768.2 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 ENST00000436087.7 - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript NM_001143769.2 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C start_lost HIGH ZNF438 220929 Transcript NM_001143770.2 protein_coding 7/9 - - - 493 1 1 M/V Atg/Gtg rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - tolerated_low_confidence(0.2) benign(0.006) 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C start_lost HIGH ZNF438 220929 Transcript NM_001143771.2 protein_coding 6/8 - - - 464 1 1 M/V Atg/Gtg rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - tolerated_low_confidence(0.2) benign(0.006) 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript NM_001387405.1 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript NM_001387411.1 protein_coding - 3/4 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript NM_001387412.1 protein_coding - 4/5 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript NM_182755.3 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant,non_coding_transcript_variant MODIFIER ZNF438 220929 Transcript NR_026560.2 misc_RNA - 4/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant,non_coding_transcript_variant MODIFIER ZNF438 220929 Transcript NR_170659.1 misc_RNA - 3/5 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C non_coding_transcript_exon_variant MODIFIER ZNF438 220929 Transcript NR_170660.1 misc_RNA 4/7 - - - 277 - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C start_lost HIGH ZNF438 220929 Transcript XM_006717399.4 protein_coding 6/8 - - - 412 1 1 M/V Atg/Gtg rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - tolerated_low_confidence(0.2) benign(0.006) 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_011519372.3 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_011519373.4 protein_coding - 4/5 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_011519374.3 protein_coding - 2/3 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C start_lost HIGH ZNF438 220929 Transcript XM_011519376.3 protein_coding 7/9 - - - 591 1 1 M/V Atg/Gtg rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - tolerated_low_confidence(0.2) benign(0.006) 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C start_lost HIGH ZNF438 220929 Transcript XM_011519377.3 protein_coding 7/9 - - - 587 1 1 M/V Atg/Gtg rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - tolerated_low_confidence(0.2) benign(0.006) 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_017015863.3 protein_coding - 2/3 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_017015869.3 protein_coding - 4/5 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_017015870.3 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_017015877.2 protein_coding - 6/8 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_024447868.2 protein_coding - 7/8 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_024447869.2 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_024447870.2 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_024447871.2 protein_coding - 4/5 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_024447872.2 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_024447873.2 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424723.1 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424724.1 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424725.1 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424726.1 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424727.1 protein_coding - 7/8 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424728.1 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424729.1 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424730.1 protein_coding - 7/8 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424731.1 protein_coding - 7/8 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424732.1 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424733.1 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424734.1 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424735.1 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424736.1 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424737.1 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424738.1 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424739.1 protein_coding - 4/5 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424740.1 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424741.1 protein_coding - 3/4 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424742.1 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424744.1 protein_coding - 7/8 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424745.1 protein_coding - 8/9 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424746.1 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424747.1 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424748.1 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424749.1 protein_coding - 5/6 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:30857686-30857686 C intron_variant MODIFIER ZNF438 220929 Transcript XM_047424750.1 protein_coding - 6/7 - - - - - - - rs16932010,COSV59192850 - -1 - EntrezGene HGNC:21029 - - - - - RefSeq - T T - - - 0.1651 - 0,1 1,1 36224396 - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G non_coding_transcript_exon_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene 1/1 - - - 55 - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:39668 - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs61846168,COSV58057472 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - rs61846168,COSV58057472 2419 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs61846168,COSV58057472 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs61846168,COSV58057472 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G downstream_gene_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene - - - - - - - - - rs61846168,COSV58057472 1790 -1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361009-31361009 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs61846168,COSV58057472 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G non_coding_transcript_exon_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene 1/1 - - - 163 - - - - - - 1 - HGNC HGNC:39668 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - - 2527 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G downstream_gene_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene - - - - - - - - - - 1682 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361117-31361117 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - - 3 1 - HGNC HGNC:39668 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - - 2628 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G downstream_gene_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene - - - - - - - - - - 1581 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361218-31361218 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - - 66 1 - HGNC HGNC:39668 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - - 2691 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C downstream_gene_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene - - - - - - - - - - 1518 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361281-31361281 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - - 102 1 - HGNC HGNC:39668 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - - 2727 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C downstream_gene_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene - - - - - - - - - - 1482 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31361317-31361317 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - - 1545 1 - HGNC HGNC:39668 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - - 4170 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C downstream_gene_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene - - - - - - - - - - 39 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362760-31362760 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - - 1666 1 - HGNC HGNC:39668 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - - 4291 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 1169 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362881-31362881 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs9664264,COSV58044925 1680 1 - HGNC HGNC:39668 - - - - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs9664264,COSV58044925 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - rs9664264,COSV58044925 4305 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs9664264,COSV58044925 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs9664264,COSV58044925 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 1155 - - - - rs9664264,COSV58044925 - -1 - - - - - - - - Ensembl - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362895-31362895 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs9664264,COSV58044925 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - 0.3123 - 0,1 0,1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - COSV58048624 1704 1 - HGNC HGNC:39668 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - COSV58048624 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - COSV58048624 4329 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - COSV58048624 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - COSV58048624 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 1131 - - - - COSV58048624 - -1 - - - - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362919-31362919 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - COSV58048624 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - - 1776 1 - HGNC HGNC:39668 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - - 4401 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 1059 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31362991-31362991 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - - 1790 1 - HGNC HGNC:39668 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - - 4415 1 - HGNC HGNC:11642 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 1045 - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363005-31363005 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - - 1803 1 - HGNC HGNC:39668 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - - 4428 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 1032 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363018-31363018 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs1030791308 1842 1 - HGNC HGNC:39668 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs1030791308 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - rs1030791308 4467 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs1030791308 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs1030791308 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 993 - - - - rs1030791308 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363057-31363057 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs1030791308 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs397842669 1867 1 - HGNC HGNC:39668 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs397842669 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - rs397842669 4492 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs397842669 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs397842669 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 968 - - - - rs397842669 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363082-31363082 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs397842669 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - - 1872 1 - HGNC HGNC:39668 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - - 4497 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 963 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363087-31363087 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs3874027 1988 1 - HGNC HGNC:39668 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs3874027 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - rs3874027 4613 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs3874027 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs3874027 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 847 - - - - rs3874027 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363203-31363203 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs3874027 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs4016977 2175 1 - HGNC HGNC:39668 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs4016977 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - rs4016977 4800 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs4016977 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs4016977 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 660 - - - - rs4016977 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363390-31363390 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs4016977 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs879230622 2178 1 - HGNC HGNC:39668 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs879230622 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - rs879230622 4803 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs879230622 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs879230622 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 657 - - - - rs879230622 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363393-31363393 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs879230622 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs4016979 2238 1 - HGNC HGNC:39668 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs4016979 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - rs4016979 4863 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs4016979 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs4016979 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 597 - - - - rs4016979 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363453-31363453 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs4016979 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - - 2326 1 - HGNC HGNC:39668 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - - 4951 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 509 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363541-31363541 T intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs4016980 2355 1 - HGNC HGNC:39668 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs4016980 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C downstream_gene_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558832.5 protein_coding_CDS_not_defined - - - - - - - - - rs4016980 4980 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs4016980 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs4016980 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 480 - - - - rs4016980 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363570-31363570 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs4016980 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs2370489,COSV58053537 2379 1 - HGNC HGNC:39668 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs2370489,COSV58053537 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs2370489,COSV58053537 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2370489,COSV58053537 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 456 - - - - rs2370489,COSV58053537 - -1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363594-31363594 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs2370489,COSV58053537 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs2370490 2389 1 - HGNC HGNC:39668 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs2370490 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs2370490 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2370490 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 446 - - - - rs2370490 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363604-31363604 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs2370490 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs2370491,COSV58037195 2418 1 - HGNC HGNC:39668 - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs2370491,COSV58037195 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs2370491,COSV58037195 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2370491,COSV58037195 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 417 - - - - rs2370491,COSV58037195 - -1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363633-31363633 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs2370491,COSV58037195 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - - 2462 1 - HGNC HGNC:39668 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - - - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - - - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - - - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - - - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 373 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363677-31363677 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs2370493 2472 1 - HGNC HGNC:39668 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs2370493 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs2370493 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2370493 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 363 - - - - rs2370493 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363687-31363687 C intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs2370493 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs2370498,COSV58048108 2557 1 - HGNC HGNC:39668 - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs2370498,COSV58048108 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs2370498,COSV58048108 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2370498,COSV58048108 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 278 - - - - rs2370498,COSV58048108 - -1 - - - - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363772-31363772 G intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs2370498,COSV58048108 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000320985.14 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 1 P4 - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000424869.6 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 NM_001174096.2 - 5 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,NMD_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000437844.6 nonsense_mediated_decay - 1/10 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000446923.7 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 5 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A downstream_gene_variant MODIFIER SPTLC1P1 ENSG00000230397 Transcript ENST00000447199.1 transcribed_processed_pseudogene - - - - - - - - - rs2370500 2619 1 - HGNC HGNC:39668 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000488625.6 retained_intron - 2/12 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000493835.5 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542815.7 protein_coding - 1/7 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000542879.5 retained_intron - 1/8 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000557827.5 retained_intron - 1/6 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558440.5 protein_coding - 1/4 - - - - - - - rs2370500 - 1 cds_end_NF HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558655.5 retained_intron - 1/7 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000558863.5 retained_intron - 2/6 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559496.5 retained_intron - 1/7 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000559858.5 protein_coding_CDS_not_defined - 2/8 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560196.5 retained_intron - 1/5 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000560721.6 protein_coding - 1/7 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 2 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561061.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561212.5 protein_coding - 1/6 - - - - - - - rs2370500 - 1 cds_end_NF HGNC HGNC:11642 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000561304.5 retained_intron - 1/8 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606161.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant,non_coding_transcript_variant MODIFIER ZEB1 ENSG00000148516 Transcript ENST00000606671.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2370500 - 1 - HGNC HGNC:11642 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A non_coding_transcript_exon_variant MODIFIER - ENSG00000285781 Transcript ENST00000649292.1 unprocessed_pseudogene 1/1 - - - 216 - - - - rs2370500 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001128128.3 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174093.2 protein_coding - 1/7 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174094.2 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174095.2 protein_coding - 1/7 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001174096.2 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 ENST00000424869.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323638.2 protein_coding - 2/12 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323641.2 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323642.2 protein_coding - 1/10 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323643.2 protein_coding - 3/10 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323644.2 protein_coding - 1/7 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323645.2 protein_coding - 1/9 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323646.2 protein_coding - 1/11 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323647.2 protein_coding - 1/9 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323648.2 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323649.2 protein_coding - 1/9 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323650.2 protein_coding - 1/11 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323651.2 protein_coding - 2/9 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323652.2 protein_coding - 1/10 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323653.2 protein_coding - 1/10 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323654.2 protein_coding - 2/10 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323655.2 protein_coding - 1/10 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323656.2 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323657.2 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323658.2 protein_coding - 2/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323659.2 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323660.2 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323661.2 protein_coding - 1/9 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323662.2 protein_coding - 1/10 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323663.2 protein_coding - 2/11 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323664.2 protein_coding - 1/10 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323665.2 protein_coding - 1/9 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323666.2 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323671.2 protein_coding - 1/9 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323672.2 protein_coding - 1/10 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323673.2 protein_coding - 1/9 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323674.2 protein_coding - 1/6 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323675.2 protein_coding - 1/6 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323676.2 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323677.2 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_001323678.2 protein_coding - 1/6 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript NM_030751.6 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425682.1 protein_coding - 1/11 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425683.1 protein_coding - 1/12 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425684.1 protein_coding - 3/14 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425685.1 protein_coding - 3/14 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425686.1 protein_coding - 3/14 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425687.1 protein_coding - 1/12 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425688.1 protein_coding - 2/13 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425689.1 protein_coding - 2/13 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425690.1 protein_coding - 2/13 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425691.1 protein_coding - 1/12 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425692.1 protein_coding - 1/12 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425694.1 protein_coding - 1/10 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425695.1 protein_coding - 1/8 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:31363834-31363834 A intron_variant MODIFIER ZEB1 6935 Transcript XM_047425696.1 protein_coding - 2/9 - - - - - - - rs2370500 - 1 - EntrezGene HGNC:11642 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:32188273-32188273 G downstream_gene_variant MODIFIER PPIAP31 ENSG00000217094 Transcript ENST00000405422.2 processed_pseudogene - - - - - - - - - - 50 -1 - HGNC HGNC:44962 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:32188288-32188288 A downstream_gene_variant MODIFIER PPIAP31 ENSG00000217094 Transcript ENST00000405422.2 processed_pseudogene - - - - - - - - - - 35 -1 - HGNC HGNC:44962 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:32188403-32188403 C non_coding_transcript_exon_variant MODIFIER PPIAP31 ENSG00000217094 Transcript ENST00000405422.2 processed_pseudogene 1/1 - - - 415 - - - - - - -1 - HGNC HGNC:44962 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:32188434-32188434 C non_coding_transcript_exon_variant MODIFIER PPIAP31 ENSG00000217094 Transcript ENST00000405422.2 processed_pseudogene 1/1 - - - 384 - - - - rs995102578 - -1 - HGNC HGNC:44962 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:32188625-32188625 C non_coding_transcript_exon_variant MODIFIER PPIAP31 ENSG00000217094 Transcript ENST00000405422.2 processed_pseudogene 1/1 - - - 193 - - - - rs966541231 - -1 - HGNC HGNC:44962 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:32188633-32188633 C non_coding_transcript_exon_variant MODIFIER PPIAP31 ENSG00000217094 Transcript ENST00000405422.2 processed_pseudogene 1/1 - - - 185 - - - - - - -1 - HGNC HGNC:44962 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:32188645-32188645 A non_coding_transcript_exon_variant MODIFIER PPIAP31 ENSG00000217094 Transcript ENST00000405422.2 processed_pseudogene 1/1 - - - 173 - - - - rs4749714 - -1 - HGNC HGNC:44962 - - - - - Ensembl - G G - - - 0.3229 - - - - - - - - - . 10:32188679-32188679 C non_coding_transcript_exon_variant MODIFIER PPIAP31 ENSG00000217094 Transcript ENST00000405422.2 processed_pseudogene 1/1 - - - 139 - - - - - - -1 - HGNC HGNC:44962 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:32188733-32188733 C non_coding_transcript_exon_variant MODIFIER PPIAP31 ENSG00000217094 Transcript ENST00000405422.2 processed_pseudogene 1/1 - - - 85 - - - - - - -1 - HGNC HGNC:44962 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 ENSG00000216937 Transcript ENST00000277657.12 protein_coding - 2/17 - - - - - - - rs2490505,COSV53236370 - 1 - HGNC HGNC:26533 - - 1 P2 - Ensembl - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 ENSG00000216937 Transcript ENST00000362006.11 protein_coding - 2/17 - - - - - - - rs2490505,COSV53236370 - 1 - HGNC HGNC:26533 - - 1 P2 - Ensembl - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW CCDC7 ENSG00000216937 Transcript ENST00000476558.7 nonsense_mediated_decay - 2/16 - - - - - - - rs2490505,COSV53236370 - 1 - HGNC HGNC:26533 - - 2 - - Ensembl - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 ENSG00000216937 Transcript ENST00000537047.5 protein_coding - 1/7 - - - - - - - rs2490505,COSV53236370 - 1 - HGNC HGNC:26533 - - 1 A2 - Ensembl - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 ENSG00000216937 Transcript ENST00000539197.5 protein_coding - 1/6 - - - - - - - rs2490505,COSV53236370 - 1 - HGNC HGNC:26533 - - 1 A2 - Ensembl - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW CCDC7 ENSG00000216937 Transcript ENST00000545067.6 nonsense_mediated_decay - 2/8 - - - - - - - rs2490505,COSV53236370 - 1 - HGNC HGNC:26533 - - 1 - - Ensembl - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 ENSG00000216937 Transcript ENST00000639629.2 protein_coding - 2/43 - - - - - - - rs2490505,COSV53236370 - 1 - HGNC HGNC:26533 NM_001395015.1 - 5 A2 - Ensembl - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript NM_001026383.3 protein_coding - 2/17 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript NM_001321115.2 protein_coding - 2/43 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript NM_001395015.1 protein_coding - 2/43 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 ENST00000639629.2 - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript NM_001395233.1 protein_coding - 2/14 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript NM_145023.6 protein_coding - 2/17 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW CCDC7 79741 Transcript NR_109826.2 misc_RNA - 2/16 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW CCDC7 79741 Transcript NR_109827.2 misc_RNA - 2/8 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_006717505.1 protein_coding - 2/41 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_006717506.1 protein_coding - 2/40 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519664.1 protein_coding - 2/42 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519666.1 protein_coding - 2/42 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519667.1 protein_coding - 2/42 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519668.1 protein_coding - 2/42 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519669.1 protein_coding - 2/42 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519670.1 protein_coding - 2/42 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519671.1 protein_coding - 2/42 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519672.1 protein_coding - 2/42 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519673.1 protein_coding - 2/42 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519674.1 protein_coding - 2/41 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519675.1 protein_coding - 2/41 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519676.1 protein_coding - 2/41 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519677.1 protein_coding - 2/42 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519678.1 protein_coding - 2/41 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519679.1 protein_coding - 2/40 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519684.4 protein_coding - 2/33 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519686.3 protein_coding - 2/29 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_011519688.3 protein_coding - 2/22 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_017016638.1 protein_coding - 2/43 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_017016640.1 protein_coding - 2/41 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G upstream_gene_variant MODIFIER CCDC7 79741 Transcript XM_017016643.1 protein_coding - - - - - - - - - rs2490505,COSV53236370 2923 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_017016644.1 protein_coding - 2/33 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_017016647.3 protein_coding - 2/33 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_017016651.1 protein_coding - 2/25 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_024448165.1 protein_coding - 2/42 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_024448166.1 protein_coding - 2/42 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_047425742.1 protein_coding - 2/43 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_047425743.1 protein_coding - 2/43 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_047425744.1 protein_coding - 2/41 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G splice_polypyrimidine_tract_variant,intron_variant LOW CCDC7 79741 Transcript XM_047425746.1 protein_coding - 2/39 - - - - - - - rs2490505,COSV53236370 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32453328-32453328 G upstream_gene_variant MODIFIER CCDC7 79741 Transcript XM_047425747.1 protein_coding - - - - - - - - - rs2490505,COSV53236370 2923 1 - EntrezGene HGNC:26533 - - - - - RefSeq - T T - - - 0.7971 - 0,1 0,1 - - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000277657.12 protein_coding 4/18 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - HGNC HGNC:26533 - - 1 P2 - Ensembl - A A - deleterious(0.04) possibly_damaging(0.651) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000362006.11 protein_coding 4/18 - - - 985 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - HGNC HGNC:26533 - - 1 P2 - Ensembl - A A - deleterious(0.04) possibly_damaging(0.651) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant,NMD_transcript_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000476558.7 nonsense_mediated_decay 4/17 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - HGNC HGNC:26533 - - 2 - - Ensembl - A A - deleterious(0.03) possibly_damaging(0.75) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000537047.5 protein_coding 3/8 - - - 464 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - HGNC HGNC:26533 - - 1 A2 - Ensembl - A A - tolerated(0.07) possibly_damaging(0.651) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000539197.5 protein_coding 3/7 - - - 464 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - HGNC HGNC:26533 - - 1 A2 - Ensembl - A A - tolerated(0.07) possibly_damaging(0.651) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant,NMD_transcript_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000545067.6 nonsense_mediated_decay 4/9 - - - 738 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - HGNC HGNC:26533 - - 1 - - Ensembl - A A - tolerated(0.08) possibly_damaging(0.651) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000639629.2 protein_coding 4/44 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - HGNC HGNC:26533 NM_001395015.1 - 5 A2 - Ensembl - A A - deleterious(0) unknown(0) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript NM_001026383.3 protein_coding 4/18 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - deleterious(0.04) possibly_damaging(0.651) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript NM_001321115.2 protein_coding 4/44 - - - 985 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - deleterious(0) unknown(0) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript NM_001395015.1 protein_coding 4/44 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 ENST00000639629.2 - - - - RefSeq - A A - deleterious(0) unknown(0) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript NM_001395233.1 protein_coding 4/15 - - - 683 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.956) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript NM_145023.6 protein_coding 4/18 - - - 985 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - deleterious(0.04) possibly_damaging(0.651) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C non_coding_transcript_exon_variant MODIFIER CCDC7 79741 Transcript NR_109826.2 misc_RNA 4/17 - - - 751 - - - - rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C non_coding_transcript_exon_variant MODIFIER CCDC7 79741 Transcript NR_109827.2 misc_RNA 4/9 - - - 985 - - - - rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_006717505.1 protein_coding 4/42 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_006717506.1 protein_coding 4/41 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519664.1 protein_coding 4/43 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519666.1 protein_coding 4/43 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519667.1 protein_coding 4/43 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519668.1 protein_coding 4/43 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519669.1 protein_coding 4/43 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519670.1 protein_coding 4/43 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519671.1 protein_coding 4/43 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519672.1 protein_coding 4/43 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519673.1 protein_coding 4/43 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519674.1 protein_coding 4/42 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519675.1 protein_coding 4/42 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519676.1 protein_coding 4/42 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519677.1 protein_coding 4/43 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519678.1 protein_coding 4/42 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519679.1 protein_coding 4/41 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519684.4 protein_coding 4/34 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519686.3 protein_coding 4/30 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519688.3 protein_coding 4/23 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016638.1 protein_coding 4/44 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016640.1 protein_coding 4/42 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C 5_prime_UTR_variant MODIFIER CCDC7 79741 Transcript XM_017016643.1 protein_coding 1/39 - - - 70 - - - - rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016644.1 protein_coding 4/34 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016647.3 protein_coding 4/34 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016651.1 protein_coding 4/26 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_024448165.1 protein_coding 4/43 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_024448166.1 protein_coding 4/43 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_047425742.1 protein_coding 4/44 - - - 1521 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - deleterious(0) unknown(0) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_047425743.1 protein_coding 4/44 - - - 612 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - deleterious(0) unknown(0) 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_047425744.1 protein_coding 4/42 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C missense_variant MODERATE CCDC7 79741 Transcript XM_047425746.1 protein_coding 4/40 - - - 751 442 148 K/Q Aaa/Caa rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456320-32456320 C 5_prime_UTR_variant MODIFIER CCDC7 79741 Transcript XM_047425747.1 protein_coding 1/38 - - - 70 - - - - rs56391924,COSV53227563 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1410 - 0,1 0,1 25342389 - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000277657.12 protein_coding - 4/17 - - - - - - - rs2244153 - 1 - HGNC HGNC:26533 - - 1 P2 - Ensembl - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000362006.11 protein_coding - 4/17 - - - - - - - rs2244153 - 1 - HGNC HGNC:26533 - - 1 P2 - Ensembl - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant,NMD_transcript_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000476558.7 nonsense_mediated_decay - 4/16 - - - - - - - rs2244153 - 1 - HGNC HGNC:26533 - - 2 - - Ensembl - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000537047.5 protein_coding - 3/7 - - - - - - - rs2244153 - 1 - HGNC HGNC:26533 - - 1 A2 - Ensembl - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000539197.5 protein_coding - 3/6 - - - - - - - rs2244153 - 1 - HGNC HGNC:26533 - - 1 A2 - Ensembl - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant,NMD_transcript_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000545067.6 nonsense_mediated_decay - 4/8 - - - - - - - rs2244153 - 1 - HGNC HGNC:26533 - - 1 - - Ensembl - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000639629.2 protein_coding - 4/43 - - - - - - - rs2244153 - 1 - HGNC HGNC:26533 NM_001395015.1 - 5 A2 - Ensembl - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript NM_001026383.3 protein_coding - 4/17 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript NM_001321115.2 protein_coding - 4/43 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript NM_001395015.1 protein_coding - 4/43 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 ENST00000639629.2 - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript NM_001395233.1 protein_coding - 4/14 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript NM_145023.6 protein_coding - 4/17 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant,non_coding_transcript_variant MODIFIER CCDC7 79741 Transcript NR_109826.2 misc_RNA - 4/16 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant,non_coding_transcript_variant MODIFIER CCDC7 79741 Transcript NR_109827.2 misc_RNA - 4/8 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_006717505.1 protein_coding - 4/41 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_006717506.1 protein_coding - 4/40 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519664.1 protein_coding - 4/42 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519666.1 protein_coding - 4/42 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519667.1 protein_coding - 4/42 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519668.1 protein_coding - 4/42 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519669.1 protein_coding - 4/42 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519670.1 protein_coding - 4/42 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519671.1 protein_coding - 4/42 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519672.1 protein_coding - 4/42 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519673.1 protein_coding - 4/42 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519674.1 protein_coding - 4/41 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519675.1 protein_coding - 4/41 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519676.1 protein_coding - 4/41 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519677.1 protein_coding - 4/42 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519678.1 protein_coding - 4/41 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519679.1 protein_coding - 4/40 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519684.4 protein_coding - 4/33 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519686.3 protein_coding - 4/29 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_011519688.3 protein_coding - 4/22 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_017016638.1 protein_coding - 4/43 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_017016640.1 protein_coding - 4/41 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_017016643.1 protein_coding - 1/38 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_017016644.1 protein_coding - 4/33 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_017016647.3 protein_coding - 4/33 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_017016651.1 protein_coding - 4/25 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_024448165.1 protein_coding - 4/42 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_024448166.1 protein_coding - 4/42 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_047425742.1 protein_coding - 4/43 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_047425743.1 protein_coding - 4/43 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_047425744.1 protein_coding - 4/41 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_047425746.1 protein_coding - 4/39 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32456468-32456468 G intron_variant MODIFIER CCDC7 79741 Transcript XM_047425747.1 protein_coding - 1/37 - - - - - - - rs2244153 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9185 - - - - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000277657.12 protein_coding - 11/17 - - - - - - - rs2990984,COSV53233712 - 1 - HGNC HGNC:26533 - - 1 P2 - Ensembl - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000362006.11 protein_coding - 11/17 - - - - - - - rs2990984,COSV53233712 - 1 - HGNC HGNC:26533 - - 1 P2 - Ensembl - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant,NMD_transcript_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000476558.7 nonsense_mediated_decay - 10/16 - - - - - - - rs2990984,COSV53233712 - 1 - HGNC HGNC:26533 - - 2 - - Ensembl - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000537047.5 protein_coding - 7/7 - - - - - - - rs2990984,COSV53233712 - 1 - HGNC HGNC:26533 - - 1 A2 - Ensembl - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000539197.5 protein_coding - 6/6 - - - - - - - rs2990984,COSV53233712 - 1 - HGNC HGNC:26533 - - 1 A2 - Ensembl - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T downstream_gene_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000545067.6 nonsense_mediated_decay - - - - - - - - - rs2990984,COSV53233712 3460 1 - HGNC HGNC:26533 - - 1 - - Ensembl - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant,non_coding_transcript_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000639453.1 protein_coding_CDS_not_defined - 2/3 - - - - - - - rs2990984,COSV53233712 - 1 - HGNC HGNC:26533 - - 3 - - Ensembl - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000639629.2 protein_coding - 11/43 - - - - - - - rs2990984,COSV53233712 - 1 - HGNC HGNC:26533 NM_001395015.1 - 5 A2 - Ensembl - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript NM_001026383.3 protein_coding - 11/17 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript NM_001321115.2 protein_coding - 11/43 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript NM_001395015.1 protein_coding - 11/43 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 ENST00000639629.2 - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript NM_001395233.1 protein_coding - 5/14 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript NM_145023.6 protein_coding - 11/17 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant,non_coding_transcript_variant MODIFIER CCDC7 79741 Transcript NR_109826.2 misc_RNA - 10/16 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T downstream_gene_variant MODIFIER CCDC7 79741 Transcript NR_109827.2 misc_RNA - - - - - - - - - rs2990984,COSV53233712 3457 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_006717505.1 protein_coding - 11/41 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_006717506.1 protein_coding - 11/40 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519664.1 protein_coding - 11/42 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519666.1 protein_coding - 11/42 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519667.1 protein_coding - 11/42 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519668.1 protein_coding - 11/42 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519669.1 protein_coding - 11/42 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519670.1 protein_coding - 11/42 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519671.1 protein_coding - 11/42 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519672.1 protein_coding - 11/42 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519673.1 protein_coding - 11/42 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519674.1 protein_coding - 11/41 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519675.1 protein_coding - 11/41 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519676.1 protein_coding - 11/41 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519677.1 protein_coding - 11/42 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519678.1 protein_coding - 11/41 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519679.1 protein_coding - 11/40 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519680.3 protein_coding - 6/38 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519683.2 protein_coding - 1/32 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519684.4 protein_coding - 11/33 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519686.3 protein_coding - 11/29 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_011519688.3 protein_coding - 11/22 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_017016638.1 protein_coding - 11/43 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_017016640.1 protein_coding - 11/41 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_017016641.2 protein_coding - 6/38 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_017016642.2 protein_coding - 6/38 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_017016643.1 protein_coding - 6/38 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_017016644.1 protein_coding - 11/33 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_017016646.1 protein_coding - 2/34 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_017016647.3 protein_coding - 11/33 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_017016651.1 protein_coding - 11/25 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_024448165.1 protein_coding - 10/42 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_024448166.1 protein_coding - 10/42 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_047425742.1 protein_coding - 11/43 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_047425743.1 protein_coding - 11/43 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_047425744.1 protein_coding - 11/41 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_047425746.1 protein_coding - 11/39 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32518044-32518044 T intron_variant MODIFIER CCDC7 79741 Transcript XM_047425747.1 protein_coding - 5/37 - - - - - - - rs2990984,COSV53233712 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - C C - - - 0.4878 - 0,1 0,1 - - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000277657.12 protein_coding 16/18 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - HGNC HGNC:26533 - - 1 P2 - Ensembl - A A - deleterious(0.03) benign(0.227) 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C upstream_gene_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000302316.12 nonsense_mediated_decay - - - - - - - - - rs12268559,COSV53232882 18 1 cds_start_NF HGNC HGNC:26533 - - 1 - - Ensembl - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000362006.11 protein_coding 16/18 - - - 1889 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - HGNC HGNC:26533 - - 1 P2 - Ensembl - A A - deleterious(0.03) benign(0.227) 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant,NMD_transcript_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000375025.10 nonsense_mediated_decay 1/23 - - - 96 98 33 K/T aAa/aCa rs12268559,COSV53232882 - 1 cds_start_NF HGNC HGNC:26533 - - 2 - - Ensembl - A A - deleterious(0.04) benign(0.413) 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000476558.7 nonsense_mediated_decay 15/17 - - - 1579 - - - - rs12268559,COSV53232882 - 1 - HGNC HGNC:26533 - - 2 - - Ensembl - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000639041.1 protein_coding 4/5 - - - 353 353 118 K/T aAa/aCa rs12268559,COSV53232882 - 1 cds_start_NF,cds_end_NF HGNC HGNC:26533 - - 5 - - Ensembl - A A - deleterious(0.03) possibly_damaging(0.567) 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C upstream_gene_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000639290.1 protein_coding_CDS_not_defined - - - - - - - - - rs12268559,COSV53232882 18 1 - HGNC HGNC:26533 - - 1 - - Ensembl - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000639629.2 protein_coding 16/44 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - HGNC HGNC:26533 NM_001395015.1 - 5 A2 - Ensembl - A A - deleterious(0.03) unknown(0) 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript NM_001026383.3 protein_coding 16/18 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - deleterious(0.03) benign(0.227) 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript NM_001321115.2 protein_coding 16/44 - - - 1889 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - deleterious(0.03) unknown(0) 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript NM_001395015.1 protein_coding 16/44 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 ENST00000639629.2 - - - - RefSeq - A A - deleterious(0.03) unknown(0) 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C intron_variant MODIFIER CCDC7 79741 Transcript NM_001395233.1 protein_coding - 8/14 - - - - - - - rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript NM_145023.6 protein_coding 16/18 - - - 1889 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - deleterious(0.03) benign(0.227) 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C non_coding_transcript_exon_variant MODIFIER CCDC7 79741 Transcript NR_109826.2 misc_RNA 15/17 - - - 1579 - - - - rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_006717505.1 protein_coding 16/42 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_006717506.1 protein_coding 16/41 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519664.1 protein_coding 16/43 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519666.1 protein_coding 16/43 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519667.1 protein_coding 16/43 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519668.1 protein_coding 15/43 - - - 1565 1256 419 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519669.1 protein_coding 16/43 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519670.1 protein_coding 16/43 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519671.1 protein_coding 16/43 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519672.1 protein_coding 16/43 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519673.1 protein_coding 16/43 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519674.1 protein_coding 16/42 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519675.1 protein_coding 16/42 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519676.1 protein_coding 16/42 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C intron_variant MODIFIER CCDC7 79741 Transcript XM_011519677.1 protein_coding - 15/42 - - - - - - - rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519678.1 protein_coding 16/42 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C intron_variant MODIFIER CCDC7 79741 Transcript XM_011519679.1 protein_coding - 15/40 - - - - - - - rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519680.3 protein_coding 11/39 - - - 796 686 229 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519683.2 protein_coding 5/33 - - - 464 425 142 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519684.4 protein_coding 16/34 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519686.3 protein_coding 16/30 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_011519688.3 protein_coding 16/23 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016638.1 protein_coding 16/44 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016640.1 protein_coding 16/42 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016641.2 protein_coding 11/39 - - - 1090 785 262 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016642.2 protein_coding 11/39 - - - 1163 686 229 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016643.1 protein_coding 11/39 - - - 774 536 179 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016644.1 protein_coding 16/34 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016646.1 protein_coding 7/35 - - - 585 431 144 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016647.3 protein_coding 16/34 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016648.1 protein_coding 3/31 - - - 306 290 97 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016649.2 protein_coding 3/31 - - - 231 65 22 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_017016651.1 protein_coding 16/26 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C intron_variant MODIFIER CCDC7 79741 Transcript XM_017016652.2 protein_coding - 2/27 - - - - - - - rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_024448165.1 protein_coding 15/43 - - - 1634 1325 442 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_024448166.1 protein_coding 15/43 - - - 1622 1313 438 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_047425742.1 protein_coding 16/44 - - - 2425 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - deleterious(0.03) unknown(0) 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_047425743.1 protein_coding 16/44 - - - 1516 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - deleterious(0.03) unknown(0) 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_047425744.1 protein_coding 16/42 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_047425746.1 protein_coding 16/40 - - - 1655 1346 449 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_047425747.1 protein_coding 10/38 - - - 698 431 144 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32567818-32567818 C missense_variant MODERATE CCDC7 79741 Transcript XM_047425748.1 protein_coding 3/31 - - - 619 65 22 K/T aAa/aCa rs12268559,COSV53232882 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.1653 - 0,1 0,1 25342389 - - - - - . 10:32686041-32686041 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000302316.12 nonsense_mediated_decay 3/21 - - - 227 - - - - rs1762526 - 1 cds_start_NF HGNC HGNC:26533 - - 1 - - Ensembl - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000375025.10 nonsense_mediated_decay 4/23 - - - 588 - - - - rs1762526 - 1 cds_start_NF HGNC HGNC:26533 - - 2 - - Ensembl - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000375028.9 protein_coding 1/21 - - - 23 25 9 I/V Ata/Gta rs1762526 - 1 cds_start_NF HGNC HGNC:26533 - - 2 - - Ensembl - A A - tolerated(1) benign(0) 0.9165 - - - - - - - - - . 10:32686041-32686041 G non_coding_transcript_exon_variant MODIFIER CCDC7 ENSG00000216937 Transcript ENST00000639290.1 protein_coding_CDS_not_defined 7/23 - - - 757 - - - - rs1762526 - 1 - HGNC HGNC:26533 - - 1 - - Ensembl - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 ENSG00000216937 Transcript ENST00000639629.2 protein_coding 23/44 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - HGNC HGNC:26533 NM_001395015.1 - 5 A2 - Ensembl - A A - tolerated(1) benign(0.014) 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript NM_001321115.2 protein_coding 23/44 - - - 2737 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - tolerated(1) benign(0.014) 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript NM_001395015.1 protein_coding 23/44 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 ENST00000639629.2 - - - - RefSeq - A A - tolerated(1) benign(0.014) 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript NM_001395233.1 protein_coding 12/15 - - - 1376 1135 379 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - tolerated(1) benign(0.07) 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_006717505.1 protein_coding 21/42 - - - 2290 1981 661 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_006717506.1 protein_coding 20/41 - - - 2182 1873 625 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519664.1 protein_coding 23/43 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519666.1 protein_coding 23/43 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519667.1 protein_coding 23/43 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519668.1 protein_coding 22/43 - - - 2413 2104 702 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519669.1 protein_coding 22/43 - - - 2401 2092 698 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519670.1 protein_coding 22/43 - - - 2395 2086 696 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519671.1 protein_coding 23/43 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519672.1 protein_coding 23/43 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519673.1 protein_coding 23/43 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519674.1 protein_coding 23/42 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519675.1 protein_coding 21/42 - - - 2293 1984 662 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519676.1 protein_coding 23/42 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519677.1 protein_coding 22/43 - - - 2281 1972 658 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519678.1 protein_coding 23/42 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519679.1 protein_coding 20/41 - - - 1972 1663 555 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519680.3 protein_coding 18/39 - - - 1644 1534 512 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519683.2 protein_coding 12/33 - - - 1312 1273 425 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519684.4 protein_coding 23/34 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519686.3 protein_coding 23/30 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_011519687.1 protein_coding 5/26 - - - 427 403 135 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_017016638.1 protein_coding 23/44 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_017016640.1 protein_coding 23/42 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_017016641.2 protein_coding 18/39 - - - 1938 1633 545 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_017016642.2 protein_coding 18/39 - - - 2011 1534 512 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_017016643.1 protein_coding 18/39 - - - 1622 1384 462 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_017016644.1 protein_coding 23/34 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_017016646.1 protein_coding 14/35 - - - 1433 1279 427 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_017016647.3 protein_coding 23/34 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_017016648.1 protein_coding 10/31 - - - 1154 1138 380 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_017016649.2 protein_coding 10/31 - - - 1079 913 305 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_017016651.1 protein_coding 23/26 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_017016652.2 protein_coding 7/28 - - - 556 436 146 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_024448165.1 protein_coding 22/43 - - - 2482 2173 725 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_024448166.1 protein_coding 22/43 - - - 2470 2161 721 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_047425742.1 protein_coding 23/44 - - - 3273 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - tolerated(1) benign(0.014) 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_047425743.1 protein_coding 23/44 - - - 2364 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - tolerated(1) benign(0.014) 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_047425744.1 protein_coding 23/42 - - - 2503 2194 732 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_047425746.1 protein_coding 20/40 - - - 2182 1873 625 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_047425747.1 protein_coding 17/38 - - - 1546 1279 427 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32686041-32686041 G missense_variant MODERATE CCDC7 79741 Transcript XM_047425748.1 protein_coding 10/31 - - - 1467 913 305 I/V Ata/Gta rs1762526 - 1 - EntrezGene HGNC:26533 - - - - - RefSeq - A A - - - 0.9165 - - - - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000302278.8 protein_coding 13/16 - - - 1925 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 NM_002211.4 - 1 P3 - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000396033.6 protein_coding 13/16 - - - 1975 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - 5 P3 - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000417122.7 protein_coding 14/17 - - - 2187 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - 4 P3 - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000423113.6 protein_coding 13/17 - - - 1925 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - 5 A1 - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000437302.6 protein_coding 13/16 - - - 2479 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - 5 P3 - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000474568.6 protein_coding 13/17 - - - 2877 1863 621 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - 5 - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000488427.2 protein_coding 13/16 - - - 1912 1668 556 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - 1 - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000488494.6 protein_coding 13/16 - - - 1931 1848 616 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - 4 - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant,NMD_transcript_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000494395.1 nonsense_mediated_decay 2/4 - - - 310 312 104 C tgC/tgT rs2298139,COSV56485504 - -1 cds_start_NF HGNC HGNC:6153 - - 3 - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000609742.3 protein_coding 13/16 - - - 1948 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000676460.1 protein_coding 13/15 - - - 1948 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A non_coding_transcript_exon_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000676623.1 retained_intron 12/15 - - - 3819 - - - - rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000676659.1 protein_coding 13/17 - - - 1967 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000676895.1 nonsense_mediated_decay 14/17 - - - 2080 - - - - rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000676964.1 protein_coding 14/17 - - - 2160 1668 556 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000677310.1 protein_coding 14/18 - - - 2192 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000677363.1 protein_coding 13/17 - - - 2877 1863 621 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000677999.1 protein_coding 14/17 - - - 2123 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - P3 - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000678120.1 nonsense_mediated_decay 13/16 - - - 1960 - - - - rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000678479.1 nonsense_mediated_decay 13/16 - - - 1946 - - - - rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678591.1 protein_coding 15/18 - - - 2302 1827 609 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - A1 - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678701.1 protein_coding 13/16 - - - 2295 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - P3 - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678766.1 protein_coding 13/17 - - - 1948 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678943.1 protein_coding 15/18 - - - 2206 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - P3 - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678952.1 protein_coding 14/17 - - - 2020 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - P3 - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant,NMD_transcript_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678989.1 nonsense_mediated_decay 13/17 - - - 2020 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000679187.1 protein_coding 14/17 - - - 2044 1668 556 C tgC/tgT rs2298139,COSV56485504 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 3688 Transcript NM_002211.4 protein_coding 13/16 - - - 1925 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - EntrezGene HGNC:6153 ENST00000302278.8 - - - - RefSeq - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 3688 Transcript NM_033668.2 protein_coding 12/16 - - - 1839 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - EntrezGene HGNC:6153 - - - - - RefSeq - G G OK - - 0.1192 - 0,1 0,1 - - - - - - . 10:32911540-32911540 A synonymous_variant LOW ITGB1 3688 Transcript NM_133376.3 protein_coding 13/16 - - - 2042 1839 613 C tgC/tgT rs2298139,COSV56485504 - -1 - EntrezGene HGNC:6153 - - - - - RefSeq - G G - - - 0.1192 - 0,1 0,1 - - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000302278.8 protein_coding 10/16 - - - 1262 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 NM_002211.4 - 1 P3 - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000396033.6 protein_coding 10/16 - - - 1312 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - 5 P3 - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000417122.7 protein_coding 11/17 - - - 1524 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - 4 P3 - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000423113.6 protein_coding 10/17 - - - 1262 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - 5 A1 - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000437302.6 protein_coding 10/16 - - - 1816 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - 5 P3 - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000474568.6 protein_coding 10/17 - - - 2214 1200 400 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - 5 - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T downstream_gene_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000475184.6 retained_intron - - - - - - - - - rs2230396,COSV56480050 2440 -1 - HGNC HGNC:6153 - - 4 - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000488427.2 protein_coding 10/16 - - - 1249 1005 335 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - 1 - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000488494.6 protein_coding 10/16 - - - 1268 1185 395 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - 4 - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000609742.3 protein_coding 10/16 - - - 1285 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000676460.1 protein_coding 10/15 - - - 1285 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T non_coding_transcript_exon_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000676623.1 retained_intron 9/15 - - - 3156 - - - - rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000676659.1 protein_coding 10/17 - - - 1304 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000676895.1 nonsense_mediated_decay 11/17 - - - 1417 - - - - rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000676964.1 protein_coding 11/17 - - - 1497 1005 335 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000677310.1 protein_coding 11/18 - - - 1529 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000677363.1 protein_coding 10/17 - - - 2214 1200 400 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000677999.1 protein_coding 11/17 - - - 1460 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - P3 - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000678120.1 nonsense_mediated_decay 10/16 - - - 1297 - - - - rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000678479.1 nonsense_mediated_decay 10/16 - - - 1283 - - - - rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678591.1 protein_coding 12/18 - - - 1639 1164 388 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - A1 - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678701.1 protein_coding 10/16 - - - 1632 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - P3 - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678766.1 protein_coding 10/17 - - - 1285 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678943.1 protein_coding 12/18 - - - 1543 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - P3 - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678952.1 protein_coding 11/17 - - - 1357 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - P3 - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant,NMD_transcript_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678989.1 nonsense_mediated_decay 10/17 - - - 1357 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000679187.1 protein_coding 11/17 - - - 1381 1005 335 G ggC/ggA rs2230396,COSV56480050 - -1 - HGNC HGNC:6153 - - - - - Ensembl - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 3688 Transcript NM_002211.4 protein_coding 10/16 - - - 1262 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - EntrezGene HGNC:6153 ENST00000302278.8 - - - - RefSeq - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 3688 Transcript NM_033668.2 protein_coding 9/16 - - - 1176 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - EntrezGene HGNC:6153 - - - - - RefSeq - G G OK - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32920338-32920338 T synonymous_variant LOW ITGB1 3688 Transcript NM_133376.3 protein_coding 10/16 - - - 1379 1176 392 G ggC/ggA rs2230396,COSV56480050 - -1 - EntrezGene HGNC:6153 - - - - - RefSeq - G G - - - 0.7845 - 0,1 0,1 23388428,29998113 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000302278.8 protein_coding 6/16 - - - 869 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 NM_002211.4 - 1 P3 - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000396033.6 protein_coding 6/16 - - - 919 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - 5 P3 - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000417122.7 protein_coding 7/17 - - - 1131 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - 4 P3 - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000423113.6 protein_coding 6/17 - - - 869 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - 5 A1 - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000437302.6 protein_coding 6/16 - - - 1423 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - 5 P3 - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G downstream_gene_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000464001.1 retained_intron - - - - - - - - - rs2298141,COSV56479655 4058 -1 - HGNC HGNC:6153 - - 2 - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G downstream_gene_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000472147.1 protein_coding - - - - - - - - - rs2298141,COSV56479655 4111 -1 cds_end_NF HGNC HGNC:6153 - - 3 - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000474568.6 protein_coding 6/17 - - - 1821 807 269 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - 5 - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G non_coding_transcript_exon_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000475184.6 retained_intron 6/7 - - - 961 - - - - rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - 4 - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G downstream_gene_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000480226.5 protein_coding - - - - - - - - - rs2298141,COSV56479655 2276 -1 cds_end_NF HGNC HGNC:6153 - - 4 - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G downstream_gene_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000484088.5 protein_coding_CDS_not_defined - - - - - - - - - rs2298141,COSV56479655 87 -1 - HGNC HGNC:6153 - - 4 - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000488427.2 protein_coding 6/16 - - - 856 612 204 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - 1 - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000488494.6 protein_coding 6/16 - - - 875 792 264 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - 4 - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G downstream_gene_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000528877.5 protein_coding - - - - - - - - - rs2298141,COSV56479655 4011 -1 cds_end_NF HGNC HGNC:6153 - - 4 - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G downstream_gene_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000534049.5 protein_coding - - - - - - - - - rs2298141,COSV56479655 2338 -1 cds_end_NF HGNC HGNC:6153 - - 4 - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000609742.3 protein_coding 6/16 - - - 892 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000676460.1 protein_coding 6/15 - - - 892 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G non_coding_transcript_exon_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000676623.1 retained_intron 6/15 - - - 892 - - - - rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000676659.1 protein_coding 6/17 - - - 911 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant,NMD_transcript_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000676895.1 nonsense_mediated_decay 6/17 - - - 892 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000676964.1 protein_coding 7/17 - - - 1104 612 204 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000677310.1 protein_coding 7/18 - - - 1136 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000677363.1 protein_coding 6/17 - - - 1821 807 269 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000677999.1 protein_coding 7/17 - - - 1067 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - P3 - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant,NMD_transcript_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678120.1 nonsense_mediated_decay 6/16 - - - 892 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ITGB1 ENSG00000150093 Transcript ENST00000678479.1 nonsense_mediated_decay 6/16 - - - 890 - - - - rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678591.1 protein_coding 8/18 - - - 1246 771 257 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - A1 - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678701.1 protein_coding 6/16 - - - 1239 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - P3 - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678766.1 protein_coding 6/17 - - - 892 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678943.1 protein_coding 8/18 - - - 1150 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - P3 - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678952.1 protein_coding 7/17 - - - 964 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - P3 - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant,NMD_transcript_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000678989.1 nonsense_mediated_decay 6/17 - - - 964 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 ENSG00000150093 Transcript ENST00000679187.1 protein_coding 7/17 - - - 988 612 204 C tgT/tgC rs2298141,COSV56479655 - -1 - HGNC HGNC:6153 - - - - - Ensembl - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 3688 Transcript NM_002211.4 protein_coding 6/16 - - - 869 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - EntrezGene HGNC:6153 ENST00000302278.8 - - - - RefSeq - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 3688 Transcript NM_033668.2 protein_coding 5/16 - - - 783 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - EntrezGene HGNC:6153 - - - - - RefSeq - A A OK - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:32925874-32925874 G synonymous_variant LOW ITGB1 3688 Transcript NM_133376.3 protein_coding 6/16 - - - 986 783 261 C tgT/tgC rs2298141,COSV56479655 - -1 - EntrezGene HGNC:6153 - - - - - RefSeq - A A - - - 0.1566 - 0,1 0,1 26689941,23388428,25487679 - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000265371.8 protein_coding - 14/17 - - - - - - - rs60607944,COSV55174248 - -1 - HGNC HGNC:8004 - - 5 P2 - Ensembl - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000374867.7 protein_coding - 13/16 - - - - - - - rs60607944,COSV55174248 - -1 - HGNC HGNC:8004 NM_003873.7 - 1 P2 - Ensembl - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000374875.5 protein_coding - 12/15 - - - - - - - rs60607944,COSV55174248 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000395995.5 protein_coding - 13/15 - - - - - - - rs60607944,COSV55174248 - -1 - HGNC HGNC:8004 - - 1 A2 - Ensembl - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C downstream_gene_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000418675.5 protein_coding - - - - - - - - - rs60607944,COSV55174248 2184 -1 cds_start_NF HGNC HGNC:8004 - - 3 - - Ensembl - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C downstream_gene_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000431894.5 protein_coding - - - - - - - - - rs60607944,COSV55174248 3241 -1 cds_start_NF HGNC HGNC:8004 - - 3 - - Ensembl - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C downstream_gene_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000466932.1 protein_coding - - - - - - - - - rs60607944,COSV55174248 2189 -1 cds_start_NF HGNC HGNC:8004 - - 3 - - Ensembl - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 8829 Transcript NM_001244972.2 protein_coding - 13/16 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 8829 Transcript NM_001244973.2 protein_coding - 13/16 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 8829 Transcript NM_001330068.2 protein_coding - 13/15 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 8829 Transcript NM_003873.7 protein_coding - 13/16 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 ENST00000374867.7 - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant,non_coding_transcript_variant MODIFIER NRP1 8829 Transcript NR_045259.2 misc_RNA - 12/15 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 8829 Transcript XM_006717521.3 protein_coding - 13/16 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 8829 Transcript XM_006717522.3 protein_coding - 13/15 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 8829 Transcript XM_006717524.3 protein_coding - 12/15 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 8829 Transcript XM_006717525.3 protein_coding - 12/15 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C downstream_gene_variant MODIFIER NRP1 8829 Transcript XM_006717526.3 protein_coding - - - - - - - - - rs60607944,COSV55174248 2200 -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C downstream_gene_variant MODIFIER NRP1 8829 Transcript XM_011519755.4 protein_coding - - - - - - - - - rs60607944,COSV55174248 2200 -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C downstream_gene_variant MODIFIER NRP1 8829 Transcript XM_011519756.3 protein_coding - - - - - - - - - rs60607944,COSV55174248 2200 -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 8829 Transcript XM_017016865.3 protein_coding - 13/15 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 8829 Transcript XM_047425976.1 protein_coding - 13/15 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 8829 Transcript XM_047425977.1 protein_coding - 12/14 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33192183-33192183 C intron_variant MODIFIER NRP1 8829 Transcript XM_047425978.1 protein_coding - 11/14 - - - - - - - rs60607944,COSV55174248 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.1318 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000265371.8 protein_coding - 9/17 - - - - - - - rs4934837,COSV55160193 - -1 - HGNC HGNC:8004 - - 5 P2 - Ensembl - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000374816.7 protein_coding - 8/10 - - - - - - - rs4934837,COSV55160193 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000374821.9 protein_coding - 8/10 - - - - - - - rs4934837,COSV55160193 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000374822.8 protein_coding - 8/11 - - - - - - - rs4934837,COSV55160193 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000374823.9 protein_coding - 8/10 - - - - - - - rs4934837,COSV55160193 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000374867.7 protein_coding - 8/16 - - - - - - - rs4934837,COSV55160193 - -1 - HGNC HGNC:8004 NM_003873.7 - 1 P2 - Ensembl - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000374875.5 protein_coding - 7/15 - - - - - - - rs4934837,COSV55160193 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000395995.5 protein_coding - 8/15 - - - - - - - rs4934837,COSV55160193 - -1 - HGNC HGNC:8004 - - 1 A2 - Ensembl - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000432372.6 protein_coding - 9/9 - - - - - - - rs4934837,COSV55160193 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript NM_001024628.3 protein_coding - 8/11 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript NM_001024629.3 protein_coding - 8/10 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript NM_001244972.2 protein_coding - 8/16 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript NM_001244973.2 protein_coding - 8/16 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript NM_001330068.2 protein_coding - 8/15 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript NM_003873.7 protein_coding - 8/16 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 ENST00000374867.7 - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant,non_coding_transcript_variant MODIFIER NRP1 8829 Transcript NR_045259.2 misc_RNA - 7/15 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript XM_006717521.3 protein_coding - 8/16 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript XM_006717522.3 protein_coding - 8/15 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript XM_006717524.3 protein_coding - 8/15 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript XM_006717525.3 protein_coding - 8/15 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript XM_006717526.3 protein_coding - 8/12 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript XM_011519755.4 protein_coding - 8/12 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript XM_011519756.3 protein_coding - 8/11 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript XM_017016865.3 protein_coding - 8/15 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript XM_047425976.1 protein_coding - 8/15 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript XM_047425977.1 protein_coding - 8/14 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221686-33221686 A intron_variant MODIFIER NRP1 8829 Transcript XM_047425978.1 protein_coding - 6/14 - - - - - - - rs4934837,COSV55160193 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 - - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000265371.8 protein_coding 9/18 - - - 1792 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - HGNC HGNC:8004 - - 5 P2 - Ensembl - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000374816.7 protein_coding 8/11 - - - 1406 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000374821.9 protein_coding 8/11 - - - 1406 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000374822.8 protein_coding 8/12 - - - 1526 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000374823.9 protein_coding 8/11 - - - 1266 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000374867.7 protein_coding 8/17 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - HGNC HGNC:8004 NM_003873.7 - 1 P2 - Ensembl - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000374875.5 protein_coding 7/16 - - - 1338 723 241 Y taC/taT rs2229935,COSV55167102 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000395995.5 protein_coding 8/16 - - - 1789 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - HGNC HGNC:8004 - - 1 A2 - Ensembl - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000432372.6 protein_coding 9/10 - - - 1813 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript NM_001024628.3 protein_coding 8/12 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript NM_001024629.3 protein_coding 8/11 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript NM_001244972.2 protein_coding 8/17 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript NM_001244973.2 protein_coding 8/17 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript NM_001330068.2 protein_coding 8/16 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript NM_003873.7 protein_coding 8/17 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 ENST00000374867.7 - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A non_coding_transcript_exon_variant MODIFIER NRP1 8829 Transcript NR_045259.2 misc_RNA 7/16 - - - 1369 - - - - rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript XM_006717521.3 protein_coding 8/17 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript XM_006717522.3 protein_coding 8/16 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript XM_006717524.3 protein_coding 8/16 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript XM_006717525.3 protein_coding 8/16 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript XM_006717526.3 protein_coding 8/13 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript XM_011519755.4 protein_coding 8/13 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript XM_011519756.3 protein_coding 8/12 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript XM_017016865.3 protein_coding 8/16 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript XM_047425976.1 protein_coding 8/16 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript XM_047425977.1 protein_coding 8/15 - - - 1551 1266 422 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221735-33221735 A synonymous_variant LOW NRP1 8829 Transcript XM_047425978.1 protein_coding 6/15 - - - 975 723 241 Y taC/taT rs2229935,COSV55167102 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3590 - 0,1 0,1 26426212,29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000265371.8 protein_coding 9/18 - - - 1687 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - HGNC HGNC:8004 - - 5 P2 - Ensembl - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000374816.7 protein_coding 8/11 - - - 1301 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000374821.9 protein_coding 8/11 - - - 1301 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000374822.8 protein_coding 8/12 - - - 1421 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000374823.9 protein_coding 8/11 - - - 1161 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000374867.7 protein_coding 8/17 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - HGNC HGNC:8004 NM_003873.7 - 1 P2 - Ensembl - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000374875.5 protein_coding 7/16 - - - 1233 618 206 P ccC/ccT rs2229934,COSV55164899 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000395995.5 protein_coding 8/16 - - - 1684 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - HGNC HGNC:8004 - - 1 A2 - Ensembl - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 ENSG00000099250 Transcript ENST00000432372.6 protein_coding 9/10 - - - 1708 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript NM_001024628.3 protein_coding 8/12 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript NM_001024629.3 protein_coding 8/11 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript NM_001244972.2 protein_coding 8/17 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript NM_001244973.2 protein_coding 8/17 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript NM_001330068.2 protein_coding 8/16 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript NM_003873.7 protein_coding 8/17 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 ENST00000374867.7 - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A non_coding_transcript_exon_variant MODIFIER NRP1 8829 Transcript NR_045259.2 misc_RNA 7/16 - - - 1264 - - - - rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript XM_006717521.3 protein_coding 8/17 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript XM_006717522.3 protein_coding 8/16 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript XM_006717524.3 protein_coding 8/16 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript XM_006717525.3 protein_coding 8/16 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript XM_006717526.3 protein_coding 8/13 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript XM_011519755.4 protein_coding 8/13 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript XM_011519756.3 protein_coding 8/12 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript XM_017016865.3 protein_coding 8/16 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript XM_047425976.1 protein_coding 8/16 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript XM_047425977.1 protein_coding 8/15 - - - 1446 1161 387 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33221840-33221840 A synonymous_variant LOW NRP1 8829 Transcript XM_047425978.1 protein_coding 6/15 - - - 870 618 206 P ccC/ccT rs2229934,COSV55164899 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - G G - - - 0.3592 - 0,1 0,1 29363855 - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 ENSG00000099250 Transcript ENST00000265371.8 protein_coding 5/18 - - - 1062 536 179 V/A gTg/gCg rs7079053 - -1 - HGNC HGNC:8004 - - 5 P2 - Ensembl - A A - tolerated(1) benign(0) 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 ENSG00000099250 Transcript ENST00000374816.7 protein_coding 4/11 - - - 676 536 179 V/A gTg/gCg rs7079053 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - A A - tolerated_low_confidence(1) benign(0) 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 ENSG00000099250 Transcript ENST00000374821.9 protein_coding 4/11 - - - 676 536 179 V/A gTg/gCg rs7079053 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - A A - tolerated_low_confidence(1) benign(0.003) 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 ENSG00000099250 Transcript ENST00000374822.8 protein_coding 4/12 - - - 796 536 179 V/A gTg/gCg rs7079053 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - A A - tolerated_low_confidence(1) benign(0) 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 ENSG00000099250 Transcript ENST00000374823.9 protein_coding 4/11 - - - 536 536 179 V/A gTg/gCg rs7079053 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - A A - tolerated_low_confidence(1) benign(0) 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 ENSG00000099250 Transcript ENST00000374867.7 protein_coding 4/17 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - HGNC HGNC:8004 NM_003873.7 - 1 P2 - Ensembl - A A - tolerated(1) benign(0) 1.0000 - - - - - - - - - . 10:33263768-33263768 G 5_prime_UTR_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000374875.5 protein_coding 3/16 - - - 608 - - - - rs7079053 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 ENSG00000099250 Transcript ENST00000395995.5 protein_coding 4/16 - - - 1059 536 179 V/A gTg/gCg rs7079053 - -1 - HGNC HGNC:8004 - - 1 A2 - Ensembl - A A - tolerated(1) benign(0) 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 ENSG00000099250 Transcript ENST00000432372.6 protein_coding 5/10 - - - 1083 536 179 V/A gTg/gCg rs7079053 - -1 - HGNC HGNC:8004 - - 1 - - Ensembl - A A - tolerated_low_confidence(1) benign(0) 1.0000 - - - - - - - - - . 10:33263768-33263768 G upstream_gene_variant MODIFIER NRP1 ENSG00000099250 Transcript ENST00000455749.1 protein_coding - - - - - - - - - rs7079053 64 -1 cds_start_NF HGNC HGNC:8004 - - 3 - - Ensembl - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript NM_001024628.3 protein_coding 4/12 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0) 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript NM_001024629.3 protein_coding 4/11 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.003) 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript NM_001244972.2 protein_coding 4/17 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - tolerated(1) benign(0) 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript NM_001244973.2 protein_coding 4/17 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - tolerated(1) benign(0) 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript NM_001330068.2 protein_coding 4/16 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - tolerated(1) benign(0) 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript NM_003873.7 protein_coding 4/17 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 ENST00000374867.7 - - - - RefSeq - A A - tolerated(1) benign(0) 1.0000 - - - - - - - - - . 10:33263768-33263768 G non_coding_transcript_exon_variant MODIFIER NRP1 8829 Transcript NR_045259.2 misc_RNA 3/16 - - - 639 - - - - rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript XM_006717521.3 protein_coding 4/17 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript XM_006717522.3 protein_coding 4/16 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript XM_006717524.3 protein_coding 4/16 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript XM_006717525.3 protein_coding 4/16 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript XM_006717526.3 protein_coding 4/13 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript XM_011519755.4 protein_coding 4/13 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript XM_011519756.3 protein_coding 4/12 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript XM_017016865.3 protein_coding 4/16 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript XM_047425976.1 protein_coding 4/16 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G missense_variant MODERATE NRP1 8829 Transcript XM_047425977.1 protein_coding 4/15 - - - 821 536 179 V/A gTg/gCg rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G 5_prime_UTR_variant MODIFIER NRP1 8829 Transcript XM_047425978.1 protein_coding 2/15 - - - 245 - - - - rs7079053 - -1 - EntrezGene HGNC:8004 - - - - - RefSeq - A A - - - 1.0000 - - - - - - - - - . 10:33263768-33263768 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000026635 enhancer - - - - - - - - - rs7079053 - - - - - - - - - - - - - - - - - 1.0000 - - - - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000340077.9 protein_coding - 10/20 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 - - 1 A1 - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000346874.9 protein_coding - 10/23 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 - - 1 A1 - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000350537.9 protein_coding - 10/23 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 - - 1 - - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000374773.6 protein_coding - 10/20 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 - - 5 - - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000374776.6 protein_coding - 10/19 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 - - 1 - - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000374788.8 protein_coding - 10/24 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 NM_001184785.2 - 1 A1 - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000374789.8 protein_coding - 10/24 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 - - 1 P4 - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000374790.8 protein_coding - 9/22 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 - - 5 - - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000374794.8 protein_coding - 9/20 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 - - 1 A1 - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000544292.5 protein_coding - 6/15 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 - - 1 - - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000545260.5 protein_coding - 9/22 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 - - 1 - - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000545693.5 protein_coding - 10/23 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 - - 1 A1 - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 ENSG00000148498 Transcript ENST00000696673.1 protein_coding - 9/23 - - - - - - - rs10740890,COSV60746918 - -1 - HGNC HGNC:16051 - - - - - Ensembl - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 56288 Transcript NM_001184785.2 protein_coding - 10/24 - - - - - - - rs10740890,COSV60746918 - -1 - EntrezGene HGNC:16051 ENST00000374788.8 - - - - RefSeq - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 56288 Transcript NM_001184786.2 protein_coding - 10/23 - - - - - - - rs10740890,COSV60746918 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 56288 Transcript NM_001184787.2 protein_coding - 10/23 - - - - - - - rs10740890,COSV60746918 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 56288 Transcript NM_001184788.2 protein_coding - 10/23 - - - - - - - rs10740890,COSV60746918 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 56288 Transcript NM_001184789.2 protein_coding - 10/22 - - - - - - - rs10740890,COSV60746918 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 56288 Transcript NM_001184790.2 protein_coding - 9/22 - - - - - - - rs10740890,COSV60746918 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 56288 Transcript NM_001184791.2 protein_coding - 9/20 - - - - - - - rs10740890,COSV60746918 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 56288 Transcript NM_001184792.2 protein_coding - 10/20 - - - - - - - rs10740890,COSV60746918 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 56288 Transcript NM_001184793.2 protein_coding - 10/20 - - - - - - - rs10740890,COSV60746918 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 56288 Transcript NM_001184794.2 protein_coding - 10/19 - - - - - - - rs10740890,COSV60746918 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T intron_variant MODIFIER PARD3 56288 Transcript NM_019619.4 protein_coding - 10/24 - - - - - - - rs10740890,COSV60746918 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - C C - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34377936-34377936 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000400802 open_chromatin_region - - - - - - - - - rs10740890,COSV60746918 - - - - - - - - - - - - - - - - - 0.6116 - 0,1 0,1 - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000340077.9 protein_coding 7/21 - - - 1191 861 287 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 - - 1 A1 - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000346874.9 protein_coding 7/24 - - - 1162 861 287 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 - - 1 A1 - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000350537.9 protein_coding 7/24 - - - 1162 861 287 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 - - 1 - - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000374773.6 protein_coding 7/21 - - - 1162 861 287 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 - - 5 - - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000374776.6 protein_coding 7/20 - - - 1162 861 287 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 - - 1 - - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000374788.8 protein_coding 7/25 - - - 1162 861 287 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 NM_001184785.2 - 1 A1 - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000374789.8 protein_coding 7/25 - - - 1162 861 287 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 - - 1 P4 - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000374790.8 protein_coding 6/23 - - - 1030 729 243 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 - - 5 - - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000374794.8 protein_coding 6/21 - - - 1030 729 243 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 - - 1 A1 - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000544292.5 protein_coding 3/16 - - - 194 51 17 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 - - 1 - - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000545260.5 protein_coding 6/23 - - - 1059 729 243 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 - - 1 - - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000545693.5 protein_coding 7/24 - - - 1191 861 287 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 - - 1 A1 - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 ENSG00000148498 Transcript ENST00000696673.1 protein_coding 6/24 - - - 1465 780 260 H caC/caT rs2796011 - -1 - HGNC HGNC:16051 - - - - - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 56288 Transcript NM_001184785.2 protein_coding 7/25 - - - 1162 861 287 H caC/caT rs2796011 - -1 - EntrezGene HGNC:16051 ENST00000374788.8 - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 56288 Transcript NM_001184786.2 protein_coding 7/24 - - - 1162 861 287 H caC/caT rs2796011 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 56288 Transcript NM_001184787.2 protein_coding 7/24 - - - 1162 861 287 H caC/caT rs2796011 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 56288 Transcript NM_001184788.2 protein_coding 7/24 - - - 1162 861 287 H caC/caT rs2796011 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 56288 Transcript NM_001184789.2 protein_coding 7/23 - - - 1162 861 287 H caC/caT rs2796011 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 56288 Transcript NM_001184790.2 protein_coding 6/23 - - - 1030 729 243 H caC/caT rs2796011 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 56288 Transcript NM_001184791.2 protein_coding 6/21 - - - 1030 729 243 H caC/caT rs2796011 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 56288 Transcript NM_001184792.2 protein_coding 7/21 - - - 1162 861 287 H caC/caT rs2796011 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 56288 Transcript NM_001184793.2 protein_coding 7/21 - - - 1162 861 287 H caC/caT rs2796011 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 56288 Transcript NM_001184794.2 protein_coding 7/20 - - - 1162 861 287 H caC/caT rs2796011 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:34399359-34399359 A synonymous_variant LOW PARD3 56288 Transcript NM_019619.4 protein_coding 7/25 - - - 1162 861 287 H caC/caT rs2796011 - -1 - EntrezGene HGNC:16051 - - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:35697513-35697513 A non_coding_transcript_exon_variant MODIFIER RPL7P37 ENSG00000226646 Transcript ENST00000425095.1 processed_pseudogene 1/1 - - - 214 - - - - - - 1 - HGNC HGNC:36656 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:35697513-35697513 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943552 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:35697534-35697534 T non_coding_transcript_exon_variant MODIFIER RPL7P37 ENSG00000226646 Transcript ENST00000425095.1 processed_pseudogene 1/1 - - - 235 - - - - - - 1 - HGNC HGNC:36656 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:35697534-35697534 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943552 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:36522700-36522700 A non_coding_transcript_exon_variant MODIFIER NAMPTP1 ENSG00000229644 Transcript ENST00000440465.1 processed_pseudogene 1/1 - - - 1535 - - - - rs1016046744 - -1 - HGNC HGNC:17633 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:36523434-36523434 T non_coding_transcript_exon_variant MODIFIER NAMPTP1 ENSG00000229644 Transcript ENST00000440465.1 processed_pseudogene 1/1 - - - 801 - - - - rs2503084 - -1 - HGNC HGNC:17633 - - - - - Ensembl - C C - - - 0.5034 - - - 16385451 - - - - - . 10:36523457-36523457 C non_coding_transcript_exon_variant MODIFIER NAMPTP1 ENSG00000229644 Transcript ENST00000440465.1 processed_pseudogene 1/1 - - - 778 - - - - rs745732590 - -1 - HGNC HGNC:17633 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:37132271-37132271 T missense_variant MODERATE ANKRD30A ENSG00000148513 Transcript ENST00000361713.2 protein_coding 4/36 - - - 732 542 181 T/M aCg/aTg rs34042320,COSV64608824,COSV64622801 - 1 - HGNC HGNC:17234 NM_052997.3 - 5 A2 - Ensembl - C C - tolerated(0.52) benign(0.011) 0.0328 - 0,1,1 0,1,1 27863482 - - - - - . 10:37132271-37132271 T missense_variant MODERATE ANKRD30A ENSG00000148513 Transcript ENST00000374660.7 protein_coding 4/42 - - - 732 542 181 T/M aCg/aTg rs34042320,COSV64608824,COSV64622801 - 1 - HGNC HGNC:17234 - - 5 P2 - Ensembl - C C - tolerated(0.37) benign(0.057) 0.0328 - 0,1,1 0,1,1 27863482 - - - - - . 10:37132271-37132271 T upstream_gene_variant MODIFIER RNU6-811P ENSG00000206796 Transcript ENST00000384069.1 snRNA - - - - - - - - - rs34042320,COSV64608824,COSV64622801 2966 1 - HGNC HGNC:47774 - - - - - Ensembl - C C - - - 0.0328 - 0,1,1 0,1,1 27863482 - - - - - . 10:37132271-37132271 T missense_variant MODERATE ANKRD30A ENSG00000148513 Transcript ENST00000602533.7 protein_coding 4/36 - - - 732 542 181 T/M aCg/aTg rs34042320,COSV64608824,COSV64622801 - 1 - HGNC HGNC:17234 - - 5 A2 - Ensembl - C C - tolerated(0.52) benign(0.011) 0.0328 - 0,1,1 0,1,1 27863482 - - - - - . 10:37132271-37132271 T missense_variant MODERATE ANKRD30A 91074 Transcript NM_052997.3 protein_coding 4/36 - - - 732 542 181 T/M aCg/aTg rs34042320,COSV64608824,COSV64622801 - 1 - EntrezGene HGNC:17234 ENST00000361713.2 - - - - RefSeq - C C - tolerated(0.52) benign(0.011) 0.0328 - 0,1,1 0,1,1 27863482 - - - - - . 10:37132271-37132271 T missense_variant MODERATE ANKRD30A 91074 Transcript XM_011519757.4 protein_coding 4/43 - - - 732 542 181 T/M aCg/aTg rs34042320,COSV64608824,COSV64622801 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - C C - - - 0.0328 - 0,1,1 0,1,1 27863482 - - - - - . 10:37132271-37132271 T missense_variant MODERATE ANKRD30A 91074 Transcript XM_011519758.3 protein_coding 4/41 - - - 732 542 181 T/M aCg/aTg rs34042320,COSV64608824,COSV64622801 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - C C - - - 0.0328 - 0,1,1 0,1,1 27863482 - - - - - . 10:37132271-37132271 T missense_variant MODERATE ANKRD30A 91074 Transcript XM_047425990.1 protein_coding 4/40 - - - 732 542 181 T/M aCg/aTg rs34042320,COSV64608824,COSV64622801 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - C C - - - 0.0328 - 0,1,1 0,1,1 27863482 - - - - - . 10:37132271-37132271 T missense_variant MODERATE ANKRD30A 91074 Transcript XM_047425992.1 protein_coding 4/33 - - - 576 542 181 T/M aCg/aTg rs34042320,COSV64608824,COSV64622801 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - C C - - - 0.0328 - 0,1,1 0,1,1 27863482 - - - - - . 10:37132271-37132271 T non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_007062015.1 misc_RNA 4/55 - - - 732 - - - - rs34042320,COSV64608824,COSV64622801 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - C C - - - 0.0328 - 0,1,1 0,1,1 27863482 - - - - - . 10:37132271-37132271 T non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_930524.4 misc_RNA 4/49 - - - 732 - - - - rs34042320,COSV64608824,COSV64622801 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - C C - - - 0.0328 - 0,1,1 0,1,1 27863482 - - - - - . 10:37162656-37162656 C synonymous_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000361713.2 protein_coding 16/36 - - - 2098 1908 636 P ccG/ccC rs12766878,COSV64622813 - 1 - HGNC HGNC:17234 NM_052997.3 - 5 A2 - Ensembl - G G - - - 0.0443 - 0,1 0,1 - - - - - - . 10:37162656-37162656 C synonymous_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000374660.7 protein_coding 16/42 - - - 2098 1908 636 P ccG/ccC rs12766878,COSV64622813 - 1 - HGNC HGNC:17234 - - 5 P2 - Ensembl - G G - - - 0.0443 - 0,1 0,1 - - - - - - . 10:37162656-37162656 C synonymous_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000602533.7 protein_coding 16/36 - - - 2098 1908 636 P ccG/ccC rs12766878,COSV64622813 - 1 - HGNC HGNC:17234 - - 5 A2 - Ensembl - G G - - - 0.0443 - 0,1 0,1 - - - - - - . 10:37162656-37162656 C synonymous_variant LOW ANKRD30A 91074 Transcript NM_052997.3 protein_coding 16/36 - - - 2098 1908 636 P ccG/ccC rs12766878,COSV64622813 - 1 - EntrezGene HGNC:17234 ENST00000361713.2 - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 - - - - - - . 10:37162656-37162656 C synonymous_variant LOW ANKRD30A 91074 Transcript XM_011519757.4 protein_coding 16/43 - - - 2098 1908 636 P ccG/ccC rs12766878,COSV64622813 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 - - - - - - . 10:37162656-37162656 C synonymous_variant LOW ANKRD30A 91074 Transcript XM_011519758.3 protein_coding 16/41 - - - 2098 1908 636 P ccG/ccC rs12766878,COSV64622813 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 - - - - - - . 10:37162656-37162656 C synonymous_variant LOW ANKRD30A 91074 Transcript XM_047425990.1 protein_coding 16/40 - - - 2098 1908 636 P ccG/ccC rs12766878,COSV64622813 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 - - - - - - . 10:37162656-37162656 C intron_variant MODIFIER ANKRD30A 91074 Transcript XM_047425992.1 protein_coding - 11/32 - - - - - - - rs12766878,COSV64622813 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 - - - - - - . 10:37162656-37162656 C non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_007062015.1 misc_RNA 16/55 - - - 2098 - - - - rs12766878,COSV64622813 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 - - - - - - . 10:37162656-37162656 C non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_930524.4 misc_RNA 16/49 - - - 2098 - - - - rs12766878,COSV64622813 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 - - - - - - . 10:37162656-37162656 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001178195 open_chromatin_region - - - - - - - - - rs12766878,COSV64622813 - - - - - - - - - - - - - - - - - 0.0443 - 0,1 0,1 - - - - - - . 10:37162658-37162658 A missense_variant MODERATE ANKRD30A ENSG00000148513 Transcript ENST00000361713.2 protein_coding 16/36 - - - 2100 1910 637 G/E gGg/gAg rs12766884,COSV64607617 - 1 - HGNC HGNC:17234 NM_052997.3 - 5 A2 - Ensembl - G G - tolerated(1) benign(0.027) 0.0443 - 0,1 0,1 27863482,23304554 - - - - - . 10:37162658-37162658 A missense_variant MODERATE ANKRD30A ENSG00000148513 Transcript ENST00000374660.7 protein_coding 16/42 - - - 2100 1910 637 G/E gGg/gAg rs12766884,COSV64607617 - 1 - HGNC HGNC:17234 - - 5 P2 - Ensembl - G G - tolerated(1) benign(0.001) 0.0443 - 0,1 0,1 27863482,23304554 - - - - - . 10:37162658-37162658 A missense_variant MODERATE ANKRD30A ENSG00000148513 Transcript ENST00000602533.7 protein_coding 16/36 - - - 2100 1910 637 G/E gGg/gAg rs12766884,COSV64607617 - 1 - HGNC HGNC:17234 - - 5 A2 - Ensembl - G G - tolerated(1) benign(0.027) 0.0443 - 0,1 0,1 27863482,23304554 - - - - - . 10:37162658-37162658 A missense_variant MODERATE ANKRD30A 91074 Transcript NM_052997.3 protein_coding 16/36 - - - 2100 1910 637 G/E gGg/gAg rs12766884,COSV64607617 - 1 - EntrezGene HGNC:17234 ENST00000361713.2 - - - - RefSeq - G G - tolerated(1) benign(0.027) 0.0443 - 0,1 0,1 27863482,23304554 - - - - - . 10:37162658-37162658 A missense_variant MODERATE ANKRD30A 91074 Transcript XM_011519757.4 protein_coding 16/43 - - - 2100 1910 637 G/E gGg/gAg rs12766884,COSV64607617 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 27863482,23304554 - - - - - . 10:37162658-37162658 A missense_variant MODERATE ANKRD30A 91074 Transcript XM_011519758.3 protein_coding 16/41 - - - 2100 1910 637 G/E gGg/gAg rs12766884,COSV64607617 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 27863482,23304554 - - - - - . 10:37162658-37162658 A missense_variant MODERATE ANKRD30A 91074 Transcript XM_047425990.1 protein_coding 16/40 - - - 2100 1910 637 G/E gGg/gAg rs12766884,COSV64607617 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 27863482,23304554 - - - - - . 10:37162658-37162658 A intron_variant MODIFIER ANKRD30A 91074 Transcript XM_047425992.1 protein_coding - 11/32 - - - - - - - rs12766884,COSV64607617 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 27863482,23304554 - - - - - . 10:37162658-37162658 A non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_007062015.1 misc_RNA 16/55 - - - 2100 - - - - rs12766884,COSV64607617 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 27863482,23304554 - - - - - . 10:37162658-37162658 A non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_930524.4 misc_RNA 16/49 - - - 2100 - - - - rs12766884,COSV64607617 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.0443 - 0,1 0,1 27863482,23304554 - - - - - . 10:37162658-37162658 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001178195 open_chromatin_region - - - - - - - - - rs12766884,COSV64607617 - - - - - - - - - - - - - - - - - 0.0443 - 0,1 0,1 27863482,23304554 - - - - - . 10:37189517-37189517 A synonymous_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000361713.2 protein_coding 25/36 - - - 2662 2472 824 T acG/acA rs2997349,COSV64609331 - 1 - HGNC HGNC:17234 NM_052997.3 - 5 A2 - Ensembl - G G - - - 0.9317 - 0,1 0,1 - - - - - - . 10:37189517-37189517 A synonymous_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000374660.7 protein_coding 31/42 - - - 3019 2829 943 T acG/acA rs2997349,COSV64609331 - 1 - HGNC HGNC:17234 - - 5 P2 - Ensembl - G G - - - 0.9317 - 0,1 0,1 - - - - - - . 10:37189517-37189517 A non_coding_transcript_exon_variant MODIFIER ANKRD30A ENSG00000148513 Transcript ENST00000475522.1 protein_coding_CDS_not_defined 5/7 - - - 346 - - - - rs2997349,COSV64609331 - 1 - HGNC HGNC:17234 - - 2 - - Ensembl - G G - - - 0.9317 - 0,1 0,1 - - - - - - . 10:37189517-37189517 A synonymous_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000602533.7 protein_coding 25/36 - - - 2662 2472 824 T acG/acA rs2997349,COSV64609331 - 1 - HGNC HGNC:17234 - - 5 A2 - Ensembl - G G - - - 0.9317 - 0,1 0,1 - - - - - - . 10:37189517-37189517 A synonymous_variant LOW ANKRD30A 91074 Transcript NM_052997.3 protein_coding 25/36 - - - 2662 2472 824 T acG/acA rs2997349,COSV64609331 - 1 - EntrezGene HGNC:17234 ENST00000361713.2 - - - - RefSeq - G G - - - 0.9317 - 0,1 0,1 - - - - - - . 10:37189517-37189517 A synonymous_variant LOW ANKRD30A 91074 Transcript XM_011519757.4 protein_coding 33/43 - - - 3103 2913 971 T acG/acA rs2997349,COSV64609331 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.9317 - 0,1 0,1 - - - - - - . 10:37189517-37189517 A synonymous_variant LOW ANKRD30A 91074 Transcript XM_011519758.3 protein_coding 33/41 - - - 3103 2913 971 T acG/acA rs2997349,COSV64609331 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.9317 - 0,1 0,1 - - - - - - . 10:37189517-37189517 A synonymous_variant LOW ANKRD30A 91074 Transcript XM_047425990.1 protein_coding 32/40 - - - 3061 2871 957 T acG/acA rs2997349,COSV64609331 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.9317 - 0,1 0,1 - - - - - - . 10:37189517-37189517 A synonymous_variant LOW ANKRD30A 91074 Transcript XM_047425992.1 protein_coding 26/33 - - - 2548 2514 838 T acG/acA rs2997349,COSV64609331 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.9317 - 0,1 0,1 - - - - - - . 10:37189517-37189517 A non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_007062015.1 misc_RNA 33/55 - - - 3103 - - - - rs2997349,COSV64609331 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.9317 - 0,1 0,1 - - - - - - . 10:37189517-37189517 A non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_930524.4 misc_RNA 33/49 - - - 3103 - - - - rs2997349,COSV64609331 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.9317 - 0,1 0,1 - - - - - - . 10:37199761-37199761 C missense_variant MODERATE ANKRD30A ENSG00000148513 Transcript ENST00000361713.2 protein_coding 30/36 - - - 2941 2751 917 K/N aaG/aaC rs1209750,COSV64610538 - 1 - HGNC HGNC:17234 NM_052997.3 - 5 A2 - Ensembl - G G - tolerated(0.12) benign(0.413) 0.4822 - 0,1 0,1 27863482 - - - - - . 10:37199761-37199761 C missense_variant MODERATE ANKRD30A ENSG00000148513 Transcript ENST00000374660.7 protein_coding 36/42 - - - 3298 3108 1036 K/N aaG/aaC rs1209750,COSV64610538 - 1 - HGNC HGNC:17234 - - 5 P2 - Ensembl - G G - tolerated(0.18) benign(0.003) 0.4822 - 0,1 0,1 27863482 - - - - - . 10:37199761-37199761 C missense_variant MODERATE ANKRD30A ENSG00000148513 Transcript ENST00000602533.7 protein_coding 30/36 - - - 2941 2751 917 K/N aaG/aaC rs1209750,COSV64610538 - 1 - HGNC HGNC:17234 - - 5 A2 - Ensembl - G G - tolerated(0.12) benign(0.413) 0.4822 - 0,1 0,1 27863482 - - - - - . 10:37199761-37199761 C missense_variant MODERATE ANKRD30A 91074 Transcript NM_052997.3 protein_coding 30/36 - - - 2941 2751 917 K/N aaG/aaC rs1209750,COSV64610538 - 1 - EntrezGene HGNC:17234 ENST00000361713.2 - - - - RefSeq - G G - tolerated(0.12) benign(0.413) 0.4822 - 0,1 0,1 27863482 - - - - - . 10:37199761-37199761 C missense_variant MODERATE ANKRD30A 91074 Transcript XM_011519757.4 protein_coding 38/43 - - - 3382 3192 1064 K/N aaG/aaC rs1209750,COSV64610538 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.4822 - 0,1 0,1 27863482 - - - - - . 10:37199761-37199761 C missense_variant MODERATE ANKRD30A 91074 Transcript XM_011519758.3 protein_coding 38/41 - - - 3382 3192 1064 K/N aaG/aaC rs1209750,COSV64610538 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.4822 - 0,1 0,1 27863482 - - - - - . 10:37199761-37199761 C missense_variant MODERATE ANKRD30A 91074 Transcript XM_047425990.1 protein_coding 37/40 - - - 3340 3150 1050 K/N aaG/aaC rs1209750,COSV64610538 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.4822 - 0,1 0,1 27863482 - - - - - . 10:37199761-37199761 C missense_variant MODERATE ANKRD30A 91074 Transcript XM_047425992.1 protein_coding 31/33 - - - 2827 2793 931 K/N aaG/aaC rs1209750,COSV64610538 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.4822 - 0,1 0,1 27863482 - - - - - . 10:37199761-37199761 C non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_007062015.1 misc_RNA 38/55 - - - 3382 - - - - rs1209750,COSV64610538 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.4822 - 0,1 0,1 27863482 - - - - - . 10:37199761-37199761 C non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_930524.4 misc_RNA 38/49 - - - 3382 - - - - rs1209750,COSV64610538 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.4822 - 0,1 0,1 27863482 - - - - - . 10:37216171-37216171 A splice_polypyrimidine_tract_variant,intron_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000361713.2 protein_coding - 31/35 - - - - - - - rs34285151 - 1 - HGNC HGNC:17234 NM_052997.3 - 5 A2 - Ensembl - C C - - - 0.2304 - - - - - - - - - . 10:37216171-37216171 A splice_polypyrimidine_tract_variant,intron_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000374660.7 protein_coding - 37/41 - - - - - - - rs34285151 - 1 - HGNC HGNC:17234 - - 5 P2 - Ensembl - C C - - - 0.2304 - - - - - - - - - . 10:37216171-37216171 A splice_polypyrimidine_tract_variant,intron_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000602533.7 protein_coding - 31/35 - - - - - - - rs34285151 - 1 - HGNC HGNC:17234 - - 5 A2 - Ensembl - C C - - - 0.2304 - - - - - - - - - . 10:37216171-37216171 A upstream_gene_variant MODIFIER ANKRD30A ENSG00000148513 Transcript ENST00000696674.1 protein_coding - - - - - - - - - rs34285151 2809 1 cds_start_NF HGNC HGNC:17234 - - - - - Ensembl - C C - - - 0.2304 - - - - - - - - - . 10:37216171-37216171 A splice_polypyrimidine_tract_variant,intron_variant LOW ANKRD30A 91074 Transcript NM_052997.3 protein_coding - 31/35 - - - - - - - rs34285151 - 1 - EntrezGene HGNC:17234 ENST00000361713.2 - - - - RefSeq - C C - - - 0.2304 - - - - - - - - - . 10:37216171-37216171 A splice_polypyrimidine_tract_variant,intron_variant LOW ANKRD30A 91074 Transcript XM_011519757.4 protein_coding - 39/42 - - - - - - - rs34285151 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - C C - - - 0.2304 - - - - - - - - - . 10:37216171-37216171 A splice_polypyrimidine_tract_variant,intron_variant LOW ANKRD30A 91074 Transcript XM_011519758.3 protein_coding - 39/40 - - - - - - - rs34285151 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - C C - - - 0.2304 - - - - - - - - - . 10:37216171-37216171 A splice_polypyrimidine_tract_variant,intron_variant LOW ANKRD30A 91074 Transcript XM_047425990.1 protein_coding - 38/39 - - - - - - - rs34285151 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - C C - - - 0.2304 - - - - - - - - - . 10:37216171-37216171 A splice_polypyrimidine_tract_variant,intron_variant LOW ANKRD30A 91074 Transcript XM_047425992.1 protein_coding - 32/32 - - - - - - - rs34285151 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - C C - - - 0.2304 - - - - - - - - - . 10:37216171-37216171 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW ANKRD30A 91074 Transcript XR_007062015.1 misc_RNA - 39/54 - - - - - - - rs34285151 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - C C - - - 0.2304 - - - - - - - - - . 10:37216171-37216171 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW ANKRD30A 91074 Transcript XR_930524.4 misc_RNA - 39/48 - - - - - - - rs34285151 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - C C - - - 0.2304 - - - - - - - - - . 10:37216231-37216231 A missense_variant MODERATE ANKRD30A ENSG00000148513 Transcript ENST00000361713.2 protein_coding 32/36 - - - 3110 2920 974 A/T Gca/Aca rs34552277 - 1 - HGNC HGNC:17234 NM_052997.3 - 5 A2 - Ensembl - G G - tolerated(0.1) benign(0.033) 0.2276 - - - 27863482 - - - - - . 10:37216231-37216231 A missense_variant MODERATE ANKRD30A ENSG00000148513 Transcript ENST00000374660.7 protein_coding 38/42 - - - 3467 3277 1093 A/T Gca/Aca rs34552277 - 1 - HGNC HGNC:17234 - - 5 P2 - Ensembl - G G - tolerated(0.41) benign(0.36) 0.2276 - - - 27863482 - - - - - . 10:37216231-37216231 A missense_variant MODERATE ANKRD30A ENSG00000148513 Transcript ENST00000602533.7 protein_coding 32/36 - - - 3110 2920 974 A/T Gca/Aca rs34552277 - 1 - HGNC HGNC:17234 - - 5 A2 - Ensembl - G G - tolerated(0.1) benign(0.033) 0.2276 - - - 27863482 - - - - - . 10:37216231-37216231 A upstream_gene_variant MODIFIER ANKRD30A ENSG00000148513 Transcript ENST00000696674.1 protein_coding - - - - - - - - - rs34552277 2749 1 cds_start_NF HGNC HGNC:17234 - - - - - Ensembl - G G - - - 0.2276 - - - 27863482 - - - - - . 10:37216231-37216231 A missense_variant MODERATE ANKRD30A 91074 Transcript NM_052997.3 protein_coding 32/36 - - - 3110 2920 974 A/T Gca/Aca rs34552277 - 1 - EntrezGene HGNC:17234 ENST00000361713.2 - - - - RefSeq - G G - tolerated(0.1) benign(0.033) 0.2276 - - - 27863482 - - - - - . 10:37216231-37216231 A missense_variant MODERATE ANKRD30A 91074 Transcript XM_011519757.4 protein_coding 40/43 - - - 3551 3361 1121 A/T Gca/Aca rs34552277 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.2276 - - - 27863482 - - - - - . 10:37216231-37216231 A missense_variant MODERATE ANKRD30A 91074 Transcript XM_011519758.3 protein_coding 40/41 - - - 3551 3361 1121 A/T Gca/Aca rs34552277 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.2276 - - - 27863482 - - - - - . 10:37216231-37216231 A missense_variant MODERATE ANKRD30A 91074 Transcript XM_047425990.1 protein_coding 39/40 - - - 3509 3319 1107 A/T Gca/Aca rs34552277 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.2276 - - - 27863482 - - - - - . 10:37216231-37216231 A missense_variant MODERATE ANKRD30A 91074 Transcript XM_047425992.1 protein_coding 33/33 - - - 2996 2962 988 A/T Gca/Aca rs34552277 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.2276 - - - 27863482 - - - - - . 10:37216231-37216231 A non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_007062015.1 misc_RNA 40/55 - - - 3551 - - - - rs34552277 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.2276 - - - 27863482 - - - - - . 10:37216231-37216231 A non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_930524.4 misc_RNA 40/49 - - - 3551 - - - - rs34552277 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - G G - - - 0.2276 - - - 27863482 - - - - - . 10:37219522-37219522 C synonymous_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000361713.2 protein_coding 34/36 - - - 4000 3810 1270 A gcA/gcC rs1148259,COSV64611210,COSV64624907 - 1 - HGNC HGNC:17234 NM_052997.3 - 5 A2 - Ensembl - A A - - - 0.5335 - 0,1,1 1,1,1 22546284,19043545 - - - - - . 10:37219522-37219522 C synonymous_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000374660.7 protein_coding 40/42 - - - 4357 4167 1389 A gcA/gcC rs1148259,COSV64611210,COSV64624907 - 1 - HGNC HGNC:17234 - - 5 P2 - Ensembl - A A - - - 0.5335 - 0,1,1 1,1,1 22546284,19043545 - - - - - . 10:37219522-37219522 C synonymous_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000602533.7 protein_coding 34/36 - - - 4000 3810 1270 A gcA/gcC rs1148259,COSV64611210,COSV64624907 - 1 - HGNC HGNC:17234 - - 5 A2 - Ensembl - A A - - - 0.5335 - 0,1,1 1,1,1 22546284,19043545 - - - - - . 10:37219522-37219522 C synonymous_variant LOW ANKRD30A ENSG00000148513 Transcript ENST00000696674.1 protein_coding 1/2 - - - 543 543 181 A gcA/gcC rs1148259,COSV64611210,COSV64624907 - 1 cds_start_NF HGNC HGNC:17234 - - - - - Ensembl - A A - - - 0.5335 - 0,1,1 1,1,1 22546284,19043545 - - - - - . 10:37219522-37219522 C synonymous_variant LOW ANKRD30A 91074 Transcript NM_052997.3 protein_coding 34/36 - - - 4000 3810 1270 A gcA/gcC rs1148259,COSV64611210,COSV64624907 - 1 - EntrezGene HGNC:17234 ENST00000361713.2 - - - - RefSeq - A A - - - 0.5335 - 0,1,1 1,1,1 22546284,19043545 - - - - - . 10:37219522-37219522 C synonymous_variant LOW ANKRD30A 91074 Transcript XM_011519757.4 protein_coding 42/43 - - - 4441 4251 1417 A gcA/gcC rs1148259,COSV64611210,COSV64624907 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - A A - - - 0.5335 - 0,1,1 1,1,1 22546284,19043545 - - - - - . 10:37219522-37219522 C downstream_gene_variant MODIFIER ANKRD30A 91074 Transcript XM_011519758.3 protein_coding - - - - - - - - - rs1148259,COSV64611210,COSV64624907 427 1 - EntrezGene HGNC:17234 - - - - - RefSeq - A A - - - 0.5335 - 0,1,1 1,1,1 22546284,19043545 - - - - - . 10:37219522-37219522 C 3_prime_UTR_variant MODIFIER ANKRD30A 91074 Transcript XM_047425990.1 protein_coding 40/40 - - - 4215 - - - - rs1148259,COSV64611210,COSV64624907 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - A A - - - 0.5335 - 0,1,1 1,1,1 22546284,19043545 - - - - - . 10:37219522-37219522 C downstream_gene_variant MODIFIER ANKRD30A 91074 Transcript XM_047425992.1 protein_coding - - - - - - - - - rs1148259,COSV64611210,COSV64624907 2749 1 - EntrezGene HGNC:17234 - - - - - RefSeq - A A - - - 0.5335 - 0,1,1 1,1,1 22546284,19043545 - - - - - . 10:37219522-37219522 C non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_007062015.1 misc_RNA 42/55 - - - 4441 - - - - rs1148259,COSV64611210,COSV64624907 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - A A - - - 0.5335 - 0,1,1 1,1,1 22546284,19043545 - - - - - . 10:37219522-37219522 C non_coding_transcript_exon_variant MODIFIER ANKRD30A 91074 Transcript XR_930524.4 misc_RNA 42/49 - - - 4441 - - - - rs1148259,COSV64611210,COSV64624907 - 1 - EntrezGene HGNC:17234 - - - - - RefSeq - A A - - - 0.5335 - 0,1,1 1,1,1 22546284,19043545 - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A ENSG00000189180 Transcript ENST00000307441.13 protein_coding 6/6 - - - 1063 860 287 P/L cCg/cTg rs78340846,COSV56728178 - 1 - HGNC HGNC:13096 - - 4 A2 - Ensembl - C C - tolerated(0.72) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A ENSG00000189180 Transcript ENST00000374618.7 protein_coding 5/5 - - - 989 470 157 P/L cCg/cTg rs78340846,COSV56728178 - 1 - HGNC HGNC:13096 - - 4 - - Ensembl - C C - tolerated(0.13) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A ENSG00000189180 Transcript ENST00000432900.7 protein_coding 5/5 - - - 959 806 269 P/L cCg/cTg rs78340846,COSV56728178 - 1 - HGNC HGNC:13096 NM_006954.2 - 1 A2 - Ensembl - C C - tolerated(0.76) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A ENSG00000189180 Transcript ENST00000458705.6 protein_coding 5/5 - - - 961 803 268 P/L cCg/cTg rs78340846,COSV56728178 - 1 - HGNC HGNC:13096 - - 1 P4 - Ensembl - C C - tolerated(0.77) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T intron_variant MODIFIER ZNF33A ENSG00000189180 Transcript ENST00000469037.2 protein_coding - 5/5 - - - - - - - rs78340846,COSV56728178 - 1 - HGNC HGNC:13096 - - 5 - - Ensembl - C C - - - 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T downstream_gene_variant MODIFIER ZNF33A ENSG00000189180 Transcript ENST00000478556.1 protein_coding_CDS_not_defined - - - - - - - - - rs78340846,COSV56728178 392 1 - HGNC HGNC:13096 - - 3 - - Ensembl - C C - - - 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A ENSG00000189180 Transcript ENST00000628825.2 protein_coding 4/4 - - - 923 824 275 P/L cCg/cTg rs78340846,COSV56728178 - 1 - HGNC HGNC:13096 - - 2 A2 - Ensembl - C C - tolerated(0.74) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001278170.2 protein_coding 4/4 - - - 903 824 275 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.74) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001278171.2 protein_coding 6/6 - - - 1082 470 157 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.13) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001278173.1 protein_coding 6/6 - - - 1063 860 287 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C OK tolerated(0.72) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001278174.2 protein_coding 6/6 - - - 1034 470 157 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.13) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001278175.2 protein_coding 6/6 - - - 1023 572 191 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.64) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001278176.2 protein_coding 6/6 - - - 1039 677 226 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.64) benign(0.006) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001278177.2 protein_coding 5/5 - - - 955 869 290 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.7) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001278178.1 protein_coding 5/5 - - - 989 470 157 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C OK tolerated(0.13) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001278179.2 protein_coding 6/6 - - - 1079 470 157 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.13) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001324175.2 protein_coding 6/6 - - - 1031 470 157 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.13) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001324176.2 protein_coding 5/5 - - - 961 470 157 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.13) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001324177.2 protein_coding 6/6 - - - 1039 470 157 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.13) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_001324178.2 protein_coding 4/4 - - - 906 827 276 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.74) benign(0.001) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_006954.2 protein_coding 5/5 - - - 959 806 269 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 ENST00000432900.7 - - - - RefSeq - C C - tolerated(0.76) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript NM_006974.3 protein_coding 5/5 - - - 956 803 268 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.77) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T intron_variant,non_coding_transcript_variant MODIFIER ZNF33A 7581 Transcript NR_136709.2 misc_RNA - 5/5 - - - - - - - rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - - - 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T intron_variant,non_coding_transcript_variant MODIFIER ZNF33A 7581 Transcript NR_136710.2 misc_RNA - 4/4 - - - - - - - rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - - - 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript XM_011519650.3 protein_coding 6/6 - - - 1047 806 269 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.76) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript XM_011519651.3 protein_coding 6/6 - - - 1044 803 268 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.77) benign(0) 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript XM_011519654.3 protein_coding 3/3 - - - 706 569 190 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - - - 0.0218 - 0,1 0,1 - - - - - - . 10:38054930-38054930 T missense_variant MODERATE ZNF33A 7581 Transcript XM_017016617.2 protein_coding 5/5 - - - 994 827 276 P/L cCg/cTg rs78340846,COSV56728178 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(0.74) benign(0.001) 0.0218 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A ENSG00000189180 Transcript ENST00000307441.13 protein_coding 6/6 - - - 1905 1702 568 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - HGNC HGNC:13096 - - 4 A2 - Ensembl - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A ENSG00000189180 Transcript ENST00000374618.7 protein_coding 5/5 - - - 1831 1312 438 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - HGNC HGNC:13096 - - 4 - - Ensembl - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A ENSG00000189180 Transcript ENST00000432900.7 protein_coding 5/5 - - - 1801 1648 550 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - HGNC HGNC:13096 NM_006954.2 - 1 A2 - Ensembl - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A ENSG00000189180 Transcript ENST00000458705.6 protein_coding 5/5 - - - 1803 1645 549 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - HGNC HGNC:13096 - - 1 P4 - Ensembl - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G intron_variant MODIFIER ZNF33A ENSG00000189180 Transcript ENST00000469037.2 protein_coding - 5/5 - - - - - - - rs2505232,COSV56723649 - 1 - HGNC HGNC:13096 - - 5 - - Ensembl - C C - - - 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G downstream_gene_variant MODIFIER ZNF33A ENSG00000189180 Transcript ENST00000478556.1 protein_coding_CDS_not_defined - - - - - - - - - rs2505232,COSV56723649 1234 1 - HGNC HGNC:13096 - - 3 - - Ensembl - C C - - - 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A ENSG00000189180 Transcript ENST00000628825.2 protein_coding 4/4 - - - 1765 1666 556 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - HGNC HGNC:13096 - - 2 A2 - Ensembl - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001278170.2 protein_coding 4/4 - - - 1745 1666 556 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001278171.2 protein_coding 6/6 - - - 1924 1312 438 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001278173.1 protein_coding 6/6 - - - 1905 1702 568 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C OK tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001278174.2 protein_coding 6/6 - - - 1876 1312 438 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001278175.2 protein_coding 6/6 - - - 1865 1414 472 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001278176.2 protein_coding 6/6 - - - 1881 1519 507 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001278177.2 protein_coding 5/5 - - - 1797 1711 571 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001278178.1 protein_coding 5/5 - - - 1831 1312 438 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C OK tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001278179.2 protein_coding 6/6 - - - 1921 1312 438 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001324175.2 protein_coding 6/6 - - - 1873 1312 438 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001324176.2 protein_coding 5/5 - - - 1803 1312 438 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001324177.2 protein_coding 6/6 - - - 1881 1312 438 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_001324178.2 protein_coding 4/4 - - - 1748 1669 557 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_006954.2 protein_coding 5/5 - - - 1801 1648 550 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 ENST00000432900.7 - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript NM_006974.3 protein_coding 5/5 - - - 1798 1645 549 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G intron_variant,non_coding_transcript_variant MODIFIER ZNF33A 7581 Transcript NR_136709.2 misc_RNA - 5/5 - - - - - - - rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - - - 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G intron_variant,non_coding_transcript_variant MODIFIER ZNF33A 7581 Transcript NR_136710.2 misc_RNA - 4/4 - - - - - - - rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - - - 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript XM_011519650.3 protein_coding 6/6 - - - 1889 1648 550 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript XM_011519651.3 protein_coding 6/6 - - - 1886 1645 549 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript XM_011519654.3 protein_coding 3/3 - - - 1548 1411 471 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - - - 0.4770 - 0,1 0,1 - - - - - - . 10:38055772-38055772 G missense_variant MODERATE ZNF33A 7581 Transcript XM_017016617.2 protein_coding 5/5 - - - 1836 1669 557 Q/E Cag/Gag rs2505232,COSV56723649 - 1 - EntrezGene HGNC:13096 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.4770 - 0,1 0,1 - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A ENSG00000075407 Transcript ENST00000351773.7 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - HGNC HGNC:13102 - - 1 P1 - Ensembl - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A ENSG00000075407 Transcript ENST00000361085.9 protein_coding - 6/6 - - - - - - - rs58217854 - 1 - HGNC HGNC:13102 - - 2 P1 - Ensembl - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G downstream_gene_variant MODIFIER ZNF37A ENSG00000075407 Transcript ENST00000477790.1 protein_coding_CDS_not_defined - - - - - - - - - rs58217854 1690 1 - HGNC HGNC:13102 - - 2 - - Ensembl - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G downstream_gene_variant MODIFIER ZNF37A ENSG00000075407 Transcript ENST00000479469.5 protein_coding_CDS_not_defined - - - - - - - - - rs58217854 1998 1 - HGNC HGNC:13102 - - 5 - - Ensembl - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G intron_variant MODIFIER ZNF37A ENSG00000075407 Transcript ENST00000638053.1 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - HGNC HGNC:13102 - - 5 - - Ensembl - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A ENSG00000075407 Transcript ENST00000685332.1 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - HGNC HGNC:13102 NM_001324250.3 - - P1 - Ensembl - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript NM_001007094.4 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript NM_001178101.3 protein_coding - 6/6 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript NM_001324245.3 protein_coding - 6/6 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript NM_001324246.3 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript NM_001324247.3 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript NM_001324248.3 protein_coding - 6/6 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript NM_001324249.3 protein_coding - 6/6 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript NM_001324250.3 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 ENST00000685332.1 - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript NM_001324251.3 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript NM_001324252.2 protein_coding - - - - - - - - - rs58217854 1690 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript NM_001324253.2 protein_coding - - - - - - - - - rs58217854 1690 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript NM_001324254.2 protein_coding - - - - - - - - - rs58217854 1690 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G intron_variant MODIFIER ZNF37A 7587 Transcript NM_001324256.2 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G intron_variant MODIFIER ZNF37A 7587 Transcript NM_001324257.2 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G intron_variant MODIFIER ZNF37A 7587 Transcript NM_001324258.2 protein_coding - 6/6 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript NM_001324259.3 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript NM_001324260.3 protein_coding - 6/6 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript NM_001324261.2 protein_coding - - - - - - - - - rs58217854 1690 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript NM_001324262.2 protein_coding - - - - - - - - - rs58217854 1690 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript NM_003421.4 protein_coding - 6/6 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript XM_005252586.5 protein_coding - 1/1 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript XM_011519656.3 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript XM_011519657.3 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript XM_011519658.4 protein_coding - 6/6 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript XM_017016624.1 protein_coding - - - - - - - - - rs58217854 482 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW ZNF37A 7587 Transcript XM_047425722.1 protein_coding - 7/7 - - - - - - - rs58217854 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript XM_047425723.1 protein_coding - - - - - - - - - rs58217854 1690 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38117383-38117383 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript XM_047425724.1 protein_coding - - - - - - - - - rs58217854 1690 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.0403 - - - - - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A ENSG00000075407 Transcript ENST00000351773.7 protein_coding 8/8 - - - 2270 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - HGNC HGNC:13102 - - 1 P1 - Ensembl - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A ENSG00000075407 Transcript ENST00000361085.9 protein_coding 7/7 - - - 1785 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - HGNC HGNC:13102 - - 2 P1 - Ensembl - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G downstream_gene_variant MODIFIER ZNF37A ENSG00000075407 Transcript ENST00000477790.1 protein_coding_CDS_not_defined - - - - - - - - - rs176889,COSV61072793 2898 1 - HGNC HGNC:13102 - - 2 - - Ensembl - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G downstream_gene_variant MODIFIER ZNF37A ENSG00000075407 Transcript ENST00000479469.5 protein_coding_CDS_not_defined - - - - - - - - - rs176889,COSV61072793 3206 1 - HGNC HGNC:13102 - - 5 - - Ensembl - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G intron_variant MODIFIER ZNF37A ENSG00000075407 Transcript ENST00000638053.1 protein_coding - 7/7 - - - - - - - rs176889,COSV61072793 - 1 - HGNC HGNC:13102 - - 5 - - Ensembl - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A ENSG00000075407 Transcript ENST00000685332.1 protein_coding 8/8 - - - 2085 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - HGNC HGNC:13102 NM_001324250.3 - - P1 - Ensembl - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript NM_001007094.4 protein_coding 8/8 - - - 2269 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript NM_001178101.3 protein_coding 7/7 - - - 1791 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript NM_001324245.3 protein_coding 7/7 - - - 1720 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript NM_001324246.3 protein_coding 8/8 - - - 2265 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript NM_001324247.3 protein_coding 8/8 - - - 2010 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript NM_001324248.3 protein_coding 7/7 - - - 1975 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript NM_001324249.3 protein_coding 7/7 - - - 1971 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript NM_001324250.3 protein_coding 8/8 - - - 2085 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 ENST00000685332.1 - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript NM_001324251.3 protein_coding 8/8 - - - 2089 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript NM_001324252.2 protein_coding - - - - - - - - - rs176889,COSV61072793 2898 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript NM_001324253.2 protein_coding - - - - - - - - - rs176889,COSV61072793 2898 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript NM_001324254.2 protein_coding - - - - - - - - - rs176889,COSV61072793 2898 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G intron_variant MODIFIER ZNF37A 7587 Transcript NM_001324256.2 protein_coding - 7/7 - - - - - - - rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G intron_variant MODIFIER ZNF37A 7587 Transcript NM_001324257.2 protein_coding - 7/7 - - - - - - - rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G intron_variant MODIFIER ZNF37A 7587 Transcript NM_001324258.2 protein_coding - 6/6 - - - - - - - rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G 3_prime_UTR_variant MODIFIER ZNF37A 7587 Transcript NM_001324259.3 protein_coding 8/8 - - - 2319 - - - - rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G 3_prime_UTR_variant MODIFIER ZNF37A 7587 Transcript NM_001324260.3 protein_coding 7/7 - - - 1841 - - - - rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript NM_001324261.2 protein_coding - - - - - - - - - rs176889,COSV61072793 2898 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript NM_001324262.2 protein_coding - - - - - - - - - rs176889,COSV61072793 2898 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript NM_003421.4 protein_coding 7/7 - - - 1795 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript XM_005252586.5 protein_coding 2/2 - - - 1398 1170 390 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript XM_011519656.3 protein_coding 8/8 - - - 2190 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript XM_011519657.3 protein_coding 8/8 - - - 2014 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript XM_011519658.4 protein_coding 7/7 - - - 1716 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript XM_017016624.1 protein_coding - - - - - - - - - rs176889,COSV61072793 1690 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G synonymous_variant LOW ZNF37A 7587 Transcript XM_047425722.1 protein_coding 8/8 - - - 2194 1440 480 S tcA/tcG rs176889,COSV61072793 - 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript XM_047425723.1 protein_coding - - - - - - - - - rs176889,COSV61072793 2898 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38118591-38118591 G downstream_gene_variant MODIFIER ZNF37A 7587 Transcript XM_047425724.1 protein_coding - - - - - - - - - rs176889,COSV61072793 2898 1 - EntrezGene HGNC:13102 - - - - - RefSeq - A A - - - 0.4691 - 0,1 0,1 18596082 - - - - - . 10:38161782-38161782 T upstream_gene_variant MODIFIER - ENSG00000290887 Transcript ENST00000419779.1 lncRNA - - - - - - - - - rs140667090 2866 1 - - - - - 2 - - Ensembl - C C - - - 0.0182 - - - - - - - - - . 10:38161782-38161782 T downstream_gene_variant MODIFIER - ENSG00000225965 Transcript ENST00000430475.1 processed_pseudogene - - - - - - - - - rs140667090 33 1 - - - - - - - - Ensembl - C C - - - 0.0182 - - - - - - - - - . 10:38161782-38161782 T intron_variant,non_coding_transcript_variant MODIFIER LOC105376500 105376500 Transcript XR_930832.3 lncRNA - 2/2 - - - - - - - rs140667090 - -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.0182 - - - - - - - - - . 10:38186693-38186693 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290887 Transcript ENST00000423162.1 lncRNA - 2/6 - - - - - - - rs2077456 - 1 - - - - - 1 - - Ensembl - G G - - - 0.4653 - - - - - - - - - . 10:38186693-38186693 A non_coding_transcript_exon_variant MODIFIER CCNYL4 ENSG00000224761 Transcript ENST00000638066.1 transcribed_unprocessed_pseudogene 4/9 - - - 329 - - - - rs2077456 - 1 - HGNC HGNC:54655 - - - - - Ensembl - G G - - - 0.4653 - - - - - - - - - . 10:38186693-38186693 A intron_variant,non_coding_transcript_variant MODIFIER CCNYL4 100129055 Transcript NR_024524.1 transcribed_pseudogene - 2/6 - - - - - - - rs2077456 - 1 - EntrezGene HGNC:54655 - - - - - RefSeq - G G OK - - 0.4653 - - - - - - - - - . 10:38186710-38186710 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290887 Transcript ENST00000423162.1 lncRNA - 2/6 - - - - - - - rs11011478 - 1 - - - - - 1 - - Ensembl - C C - - - 0.0389 - - - - - - - - - . 10:38186710-38186710 T non_coding_transcript_exon_variant MODIFIER CCNYL4 ENSG00000224761 Transcript ENST00000638066.1 transcribed_unprocessed_pseudogene 4/9 - - - 346 - - - - rs11011478 - 1 - HGNC HGNC:54655 - - - - - Ensembl - C C - - - 0.0389 - - - - - - - - - . 10:38186710-38186710 T intron_variant,non_coding_transcript_variant MODIFIER CCNYL4 100129055 Transcript NR_024524.1 transcribed_pseudogene - 2/6 - - - - - - - rs11011478 - 1 - EntrezGene HGNC:54655 - - - - - RefSeq - C C OK - - 0.0389 - - - - - - - - - . 10:38247940-38247940 G downstream_gene_variant MODIFIER - ENSG00000234941 Transcript ENST00000418733.1 processed_pseudogene - - - - - - - - - - 2502 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38247940-38247940 G non_coding_transcript_exon_variant MODIFIER - ENSG00000226113 Transcript ENST00000450980.1 transcribed_unprocessed_pseudogene 1/3 - - - 19 - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38247945-38247945 C downstream_gene_variant MODIFIER - ENSG00000234941 Transcript ENST00000418733.1 processed_pseudogene - - - - - - - - - - 2497 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38247945-38247945 C non_coding_transcript_exon_variant MODIFIER - ENSG00000226113 Transcript ENST00000450980.1 transcribed_unprocessed_pseudogene 1/3 - - - 24 - - - - - - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38248057-38248057 C downstream_gene_variant MODIFIER - ENSG00000234941 Transcript ENST00000418733.1 processed_pseudogene - - - - - - - - - - 2385 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38248057-38248057 C non_coding_transcript_exon_variant MODIFIER - ENSG00000226113 Transcript ENST00000450980.1 transcribed_unprocessed_pseudogene 1/3 - - - 136 - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38248062-38248062 A downstream_gene_variant MODIFIER - ENSG00000234941 Transcript ENST00000418733.1 processed_pseudogene - - - - - - - - - - 2380 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38248062-38248062 A non_coding_transcript_exon_variant MODIFIER - ENSG00000226113 Transcript ENST00000450980.1 transcribed_unprocessed_pseudogene 1/3 - - - 141 - - - - - - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38248141-38248141 C downstream_gene_variant MODIFIER - ENSG00000234941 Transcript ENST00000418733.1 processed_pseudogene - - - - - - - - - - 2301 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38248141-38248141 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000226113 Transcript ENST00000450980.1 transcribed_unprocessed_pseudogene - 1/2 - - - - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38248152-38248152 G downstream_gene_variant MODIFIER - ENSG00000234941 Transcript ENST00000418733.1 processed_pseudogene - - - - - - - - - - 2290 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38248152-38248152 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000226113 Transcript ENST00000450980.1 transcribed_unprocessed_pseudogene - 1/2 - - - - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38250442-38250442 G non_coding_transcript_exon_variant MODIFIER - ENSG00000234941 Transcript ENST00000418733.1 processed_pseudogene 1/1 - - - 162 - - - - rs377201837 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38250442-38250442 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000226113 Transcript ENST00000450980.1 transcribed_unprocessed_pseudogene - 1/2 - - - - - - - rs377201837 - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38250602-38250602 T non_coding_transcript_exon_variant MODIFIER - ENSG00000234941 Transcript ENST00000418733.1 processed_pseudogene 1/1 - - - 2 - - - - rs563129494 - -1 - - - - - - - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:38250602-38250602 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000226113 Transcript ENST00000450980.1 transcribed_unprocessed_pseudogene - 1/2 - - - - - - - rs563129494 - 1 - - - - - - - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:38310024-38310024 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000226113 Transcript ENST00000450980.1 transcribed_unprocessed_pseudogene - 1/2 - - - - - - - rs71494873 - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38310204-38310204 A non_coding_transcript_exon_variant MODIFIER - ENSG00000226113 Transcript ENST00000450980.1 transcribed_unprocessed_pseudogene 2/3 - - - 301 - - - - rs71494874 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38333073-38333073 G non_coding_transcript_exon_variant MODIFIER - ENSG00000226113 Transcript ENST00000450980.1 transcribed_unprocessed_pseudogene 3/3 - - - 343 - - - - rs71498845 - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38333094-38333094 A non_coding_transcript_exon_variant MODIFIER - ENSG00000226113 Transcript ENST00000450980.1 transcribed_unprocessed_pseudogene 3/3 - - - 364 - - - - - - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38358387-38358387 C non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene 2/9 - - - 111 - - - - rs759622212 - 1 - HGNC HGNC:28120 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38358387-38358387 C non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA 2/8 - - - 186 - - - - rs759622212 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38358387-38358387 C non_coding_transcript_exon_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene 2/8 - - - 186 - - - - rs759622212 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38358483-38358483 G non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene 2/9 - - - 207 - - - - - - 1 - HGNC HGNC:28120 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38358483-38358483 G non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA 2/8 - - - 282 - - - - - - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38358483-38358483 G non_coding_transcript_exon_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene 2/8 - - - 282 - - - - - - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:38358484-38358484 G non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene 2/9 - - - 208 - - - - rs2996585 - 1 - HGNC HGNC:28120 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38358484-38358484 G non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA 2/8 - - - 283 - - - - rs2996585 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38358484-38358484 G non_coding_transcript_exon_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene 2/8 - - - 283 - - - - rs2996585 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38361308-38361308 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 2/8 - - - - - - - rs34183823 - 1 - HGNC HGNC:28120 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38361308-38361308 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 2/7 - - - - - - - rs34183823 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38361308-38361308 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 2/7 - - - - - - - rs34183823 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:38361394-38361394 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 2/8 - - - - - - - rs2997772 - 1 - HGNC HGNC:28120 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38361394-38361394 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 2/7 - - - - - - - rs2997772 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38361394-38361394 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 2/7 - - - - - - - rs2997772 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:38361438-38361438 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 2/8 - - - - - - - rs34225292 - 1 - HGNC HGNC:28120 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38361438-38361438 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 2/7 - - - - - - - rs34225292 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38361438-38361438 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 2/7 - - - - - - - rs34225292 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:38362159-38362159 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 2/8 - - - - - - - - - 1 - HGNC HGNC:28120 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38362159-38362159 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 2/7 - - - - - - - - - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38362159-38362159 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 2/7 - - - - - - - - - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:38362239-38362239 C splice_acceptor_variant,non_coding_transcript_variant HIGH HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 2/8 - - - - - - - - - 1 - HGNC HGNC:28120 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38362239-38362239 C splice_acceptor_variant,non_coding_transcript_variant HIGH HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 2/7 - - - - - - - - - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38362239-38362239 C splice_acceptor_variant,non_coding_transcript_variant HIGH HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 2/7 - - - - - - - - - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:38362262-38362262 T non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene 3/9 - - - 262 - - - - rs144318167 - 1 - HGNC HGNC:28120 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38362262-38362262 T non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA 3/8 - - - 337 - - - - rs144318167 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38362262-38362262 T non_coding_transcript_exon_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene 3/8 - - - 337 - - - - rs144318167 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:38362319-38362319 T non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene 3/9 - - - 319 - - - - - - 1 - HGNC HGNC:28120 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38362319-38362319 T non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA 3/8 - - - 394 - - - - - - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38362319-38362319 T non_coding_transcript_exon_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene 3/8 - - - 394 - - - - - - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:38362348-38362348 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 3/8 - - - - - - - rs768593934 - 1 - HGNC HGNC:28120 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38362348-38362348 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 3/7 - - - - - - - rs768593934 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38362348-38362348 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 3/7 - - - - - - - rs768593934 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:38362407-38362407 A intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 3/8 - - - - - - - rs565964903 - 1 - HGNC HGNC:28120 - - - - - Ensembl - G G - - - 0.0002 - - - - - - - - - . 10:38362407-38362407 A intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 3/7 - - - - - - - rs565964903 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - G G - - - 0.0002 - - - - - - - - - . 10:38362407-38362407 A intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 3/7 - - - - - - - rs565964903 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - G G OK - - 0.0002 - - - - - - - - - . 10:38363383-38363383 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 3/8 - - - - - - - rs370255650 - 1 - HGNC HGNC:28120 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38363383-38363383 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 3/7 - - - - - - - rs370255650 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38363383-38363383 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 3/7 - - - - - - - rs370255650 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:38363409-38363409 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 3/8 - - - - - - - rs367915601 - 1 - HGNC HGNC:28120 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38363409-38363409 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 3/7 - - - - - - - rs367915601 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38363409-38363409 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 3/7 - - - - - - - rs367915601 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:38363587-38363587 A non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene 4/9 - - - 430 - - - - rs1374270797 - 1 - HGNC HGNC:28120 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38363587-38363587 A non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA 4/8 - - - 505 - - - - rs1374270797 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38363587-38363587 A non_coding_transcript_exon_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene 4/8 - - - 505 - - - - rs1374270797 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:38363645-38363645 C intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 4/8 - - - - - - - rs879195618 - 1 - HGNC HGNC:28120 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38363645-38363645 C intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 4/7 - - - - - - - rs879195618 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38363645-38363645 C intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 4/7 - - - - - - - rs879195618 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:38363657-38363657 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 4/8 - - - - - - - rs878861132 - 1 - HGNC HGNC:28120 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38363657-38363657 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 4/7 - - - - - - - rs878861132 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38363657-38363657 T intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 4/7 - - - - - - - rs878861132 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:38365504-38365504 G non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene 5/9 - - - 524 - - - - rs2257765 - 1 - HGNC HGNC:28120 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38365504-38365504 G non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA 5/8 - - - 599 - - - - rs2257765 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38365504-38365504 G non_coding_transcript_exon_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene 5/8 - - - 599 - - - - rs2257765 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:38365616-38365619 - non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene 5/9 - - - 639 - - - - - - 1 - HGNC HGNC:28120 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38365616-38365619 - non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA 5/8 - - - 714 - - - - - - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38365616-38365619 - non_coding_transcript_exon_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene 5/8 - - - 714 - - - - - - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38365647-38365648 TA intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 5/8 - - - - - - - rs4007027 - 1 - HGNC HGNC:28120 - - - - - Ensembl - - - - - - - - - - - - - - - - . 10:38365647-38365648 TA intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 5/7 - - - - - - - rs4007027 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - - - - - - - - - - - - - - - - . 10:38365647-38365648 TA intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 5/7 - - - - - - - rs4007027 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - - - OK - - - - - - - - - - - - . 10:38365888-38365888 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 5/8 - - - - - - - rs2489462 - 1 - HGNC HGNC:28120 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38365888-38365888 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 5/7 - - - - - - - rs2489462 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38365888-38365888 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 5/7 - - - - - - - rs2489462 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38365888-38365888 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401550 CTCF_binding_site - - - - - - - - - rs2489462 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38369204-38369204 G non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene 6/9 - - - 730 - - - - - - 1 - HGNC HGNC:28120 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38369204-38369204 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 5/7 - - - - - - - - - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38369204-38369204 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 5/7 - - - - - - - - - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:38369265-38369270 - intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 6/8 - - - - - - - - - 1 - HGNC HGNC:28120 - - - - - Ensembl - CT CT - - - - - - - - - - - - - . 10:38369265-38369270 - intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 5/7 - - - - - - - - - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - CT CT - - - - - - - - - - - - - . 10:38369265-38369270 - intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 5/7 - - - - - - - - - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - CT CT OK - - - - - - - - - - - - . 10:38369297-38369297 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 6/8 - - - - - - - - - 1 - HGNC HGNC:28120 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38369297-38369297 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 5/7 - - - - - - - - - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38369297-38369297 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 5/7 - - - - - - - - - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:38369874-38369874 A intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 6/8 - - - - - - - - - 1 - HGNC HGNC:28120 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38369874-38369874 A intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 5/7 - - - - - - - - - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38369874-38369874 A intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 5/7 - - - - - - - - - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38369902-38369902 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 6/8 - - - - - - - rs2489465 - 1 - HGNC HGNC:28120 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38369902-38369902 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 5/7 - - - - - - - rs2489465 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38369902-38369902 G intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 5/7 - - - - - - - rs2489465 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:38369933-38369933 A intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 6/8 - - - - - - - rs2997807 - 1 - HGNC HGNC:28120 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38369933-38369933 A intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 5/7 - - - - - - - rs2997807 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38369933-38369933 A intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 5/7 - - - - - - - rs2997807 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38369948-38369948 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 6/8 - - - - - - - rs2997808 - 1 - HGNC HGNC:28120 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38369948-38369948 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 5/7 - - - - - - - rs2997808 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38369948-38369948 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 5/7 - - - - - - - rs2997808 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38370063-38370063 C intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene - 7/8 - - - - - - - - - 1 - HGNC HGNC:28120 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38370063-38370063 C intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - 6/7 - - - - - - - - - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38370063-38370063 C intron_variant,non_coding_transcript_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - 6/7 - - - - - - - - - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38371105-38371105 C non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000099251 Transcript ENST00000471365.1 transcribed_unprocessed_pseudogene 8/9 - - - 842 - - - - rs2489466 - 1 - HGNC HGNC:28120 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38371105-38371105 C non_coding_transcript_exon_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA 7/8 - - - 812 - - - - rs2489466 - 1 - HGNC HGNC:28120 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38371105-38371105 C non_coding_transcript_exon_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene 7/8 - - - 812 - - - - rs2489466 - 1 - EntrezGene HGNC:28120 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:38383298-38383298 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 3/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38383298-38383298 A downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - - - - - - - - - - 1848 -1 - HGNC HGNC:30810 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:38383298-38383298 A downstream_gene_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - - - - - - - - - - 4793 1 - HGNC HGNC:28120 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38383298-38383298 A downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - - - - - - - - - - 1647 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38383298-38383298 A downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - - - - - - - - - - 1647 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38383298-38383298 A downstream_gene_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - - - - - - - - - - 4793 1 - EntrezGene HGNC:28120 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:38383298-38383298 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 3/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38383298-38383298 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 2/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38383318-38383318 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 3/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38383318-38383318 G downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - - - - - - - - - - 1828 -1 - HGNC HGNC:30810 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:38383318-38383318 G downstream_gene_variant MODIFIER HSD17B7P2 ENSG00000290439 Transcript ENST00000494540.5 lncRNA - - - - - - - - - - 4813 1 - HGNC HGNC:28120 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38383318-38383318 G downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - - - - - - - - - - 1627 -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38383318-38383318 G downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - - - - - - - - - - 1627 -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38383318-38383318 G downstream_gene_variant MODIFIER HSD17B7P2 158160 Transcript NR_003086.1 transcribed_pseudogene - - - - - - - - - - 4813 1 - EntrezGene HGNC:28120 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:38383318-38383318 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 3/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38383318-38383318 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 2/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38391799-38391799 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38391799-38391799 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:38391799-38391799 T downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - - - - - - - - - - 184 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38391799-38391799 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38391799-38391799 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38391799-38391799 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 2/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38391799-38391799 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 2/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38391799-38391799 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401552 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38391812-38391812 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38391812-38391812 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:38391812-38391812 G downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - - - - - - - - - - 171 -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38391812-38391812 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38391812-38391812 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38391812-38391812 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 2/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38391812-38391812 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 2/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38391812-38391812 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401552 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38391967-38391967 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 2/3 - - - - - - - rs1177270879 - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38391967-38391967 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 2/2 - - - - - - - rs1177270879 - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:38391967-38391967 C downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - - - - - - - - - rs1177270879 16 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38391967-38391967 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 2/3 - - - - - - - rs1177270879 - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38391967-38391967 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 2/2 - - - - - - - rs1177270879 - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38391967-38391967 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 2/3 - - - - - - - rs1177270879 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38391967-38391967 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 2/2 - - - - - - - rs1177270879 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38391967-38391967 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401552 enhancer - - - - - - - - - rs1177270879 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38392018-38392018 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA 2/4 - - - 388 - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38392018-38392018 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA 2/3 - - - 448 - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:38392018-38392018 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 3/3 - - - 308 - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38392018-38392018 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA 2/4 - - - 388 - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38392018-38392018 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA 2/3 - - - 396 - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38392018-38392018 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene 2/4 - - - 459 - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38392018-38392018 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene 2/3 - - - 459 - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38392018-38392018 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401552 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38392055-38392055 T non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA 2/4 - - - 351 - - - - rs749574729 - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38392055-38392055 T non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA 2/3 - - - 411 - - - - rs749574729 - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:38392055-38392055 T non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 3/3 - - - 271 - - - - rs749574729 - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38392055-38392055 T non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA 2/4 - - - 351 - - - - rs749574729 - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38392055-38392055 T non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA 2/3 - - - 359 - - - - rs749574729 - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38392055-38392055 T non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene 2/4 - - - 422 - - - - rs749574729 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38392055-38392055 T non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene 2/3 - - - 422 - - - - rs749574729 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38392055-38392055 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401552 enhancer - - - - - - - - - rs749574729 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38392096-38392096 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA 2/4 - - - 310 - - - - rs2384754 - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38392096-38392096 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA 2/3 - - - 370 - - - - rs2384754 - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:38392096-38392096 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 3/3 - - - 230 - - - - rs2384754 - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38392096-38392096 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA 2/4 - - - 310 - - - - rs2384754 - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38392096-38392096 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA 2/3 - - - 318 - - - - rs2384754 - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38392096-38392096 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene 2/4 - - - 381 - - - - rs2384754 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38392096-38392096 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene 2/3 - - - 381 - - - - rs2384754 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38392096-38392096 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401552 enhancer - - - - - - - - - rs2384754 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38392106-38392106 A non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA 2/4 - - - 300 - - - - rs750973739 - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38392106-38392106 A non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA 2/3 - - - 360 - - - - rs750973739 - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:38392106-38392106 A non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 3/3 - - - 220 - - - - rs750973739 - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38392106-38392106 A non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA 2/4 - - - 300 - - - - rs750973739 - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38392106-38392106 A non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA 2/3 - - - 308 - - - - rs750973739 - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38392106-38392106 A non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene 2/4 - - - 371 - - - - rs750973739 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38392106-38392106 A non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene 2/3 - - - 371 - - - - rs750973739 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38392106-38392106 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401552 enhancer - - - - - - - - - rs750973739 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38392156-38392156 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - rs4007017 - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38392156-38392156 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - rs4007017 - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:38392156-38392156 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - 2/2 - - - - - - - rs4007017 - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38392156-38392156 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - rs4007017 - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38392156-38392156 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - rs4007017 - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38392156-38392156 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - rs4007017 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38392156-38392156 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - rs4007017 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38392156-38392156 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401552 enhancer - - - - - - - - - rs4007017 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38392212-38392212 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38392212-38392212 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:38392212-38392212 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - 2/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38392212-38392212 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38392212-38392212 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38392212-38392212 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38392212-38392212 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38392847-38392847 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38392847-38392847 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:38392847-38392847 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - 2/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38392847-38392847 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38392847-38392847 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38392847-38392847 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38392847-38392847 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38392875-38392875 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38392875-38392875 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:38392875-38392875 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - 2/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38392875-38392875 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38392875-38392875 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38392875-38392875 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38392875-38392875 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38393007-38393007 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - rs1183993661 - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38393007-38393007 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - rs1183993661 - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:38393007-38393007 C splice_donor_5th_base_variant,intron_variant,non_coding_transcript_variant LOW SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - 2/2 - - - - - - - rs1183993661 - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38393007-38393007 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - rs1183993661 - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38393007-38393007 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - rs1183993661 - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38393007-38393007 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - rs1183993661 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38393007-38393007 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - rs1183993661 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38393020-38393020 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - rs575441902 - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:38393020-38393020 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - rs575441902 - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:38393020-38393020 G non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 2/3 - - - 200 - - - - rs575441902 - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:38393020-38393020 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - rs575441902 - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:38393020-38393020 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - rs575441902 - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:38393020-38393020 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - rs575441902 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:38393020-38393020 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - rs575441902 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - 0.0002 - - - - - - - - - . 10:38393042-38393042 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38393042-38393042 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:38393042-38393042 A non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 2/3 - - - 178 - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38393042-38393042 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38393042-38393042 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38393042-38393042 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38393042-38393042 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38393076-38393076 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38393076-38393076 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:38393076-38393076 T non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 2/3 - - - 144 - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38393076-38393076 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38393076-38393076 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38393076-38393076 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38393076-38393076 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38393087-38393087 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38393087-38393087 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:38393087-38393087 C non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 2/3 - - - 133 - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38393087-38393087 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38393087-38393087 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38393087-38393087 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38393087-38393087 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38393112-38393112 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38393112-38393112 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:38393112-38393112 C splice_region_variant,non_coding_transcript_exon_variant LOW SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 2/3 - - - 108 - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38393112-38393112 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38393112-38393112 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38393112-38393112 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38393112-38393112 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38393140-38393140 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38393140-38393140 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:38393140-38393140 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38393140-38393140 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38393140-38393140 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38393140-38393140 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38393140-38393140 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38393166-38393166 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38393166-38393166 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:38393166-38393166 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38393166-38393166 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38393166-38393166 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38393166-38393166 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38393166-38393166 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38393211-38393211 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - rs4007019 - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38393211-38393211 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - rs4007019 - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:38393211-38393211 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - 1/2 - - - - - - - rs4007019 - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38393211-38393211 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - rs4007019 - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38393211-38393211 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - rs4007019 - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38393211-38393211 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - rs4007019 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38393211-38393211 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - rs4007019 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38393274-38393274 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38393274-38393274 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:38393274-38393274 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38393274-38393274 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38393274-38393274 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38393274-38393274 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38393274-38393274 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38393289-38393289 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - rs4007020 - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38393289-38393289 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - rs4007020 - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:38393289-38393289 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - 1/2 - - - - - - - rs4007020 - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38393289-38393289 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - rs4007020 - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38393289-38393289 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - rs4007020 - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38393289-38393289 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - rs4007020 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38393289-38393289 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - rs4007020 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399548-38399548 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - rs1261588450 - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38399548-38399548 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - rs1261588450 - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:38399548-38399548 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - 1/2 - - - - - - - rs1261588450 - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38399548-38399548 G upstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - rs1261588450 3641 1 - - - - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38399548-38399548 G downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - rs1261588450 2128 -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38399548-38399548 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - rs1261588450 - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38399548-38399548 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - rs1261588450 - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38399548-38399548 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - rs1261588450 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399548-38399548 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - rs1261588450 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399548-38399548 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - - - - - - - - - rs1261588450 3617 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399548-38399548 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - - - - - - - - - rs1261588450 3624 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399548-38399548 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - - - - - - - - - rs1261588450 3617 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399548-38399548 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - - - - - - - - - rs1261588450 3617 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399548-38399548 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - - - - - - - - - rs1261588450 3617 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399548-38399548 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - - - - - - - - - rs1261588450 3617 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399548-38399548 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - - - - - - - - - rs1261588450 3617 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399548-38399548 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - - - - - - - - - rs1261588450 3617 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399548-38399548 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - - - - - - - - - rs1261588450 3617 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399562-38399562 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38399562-38399562 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:38399562-38399562 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38399562-38399562 G upstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 3627 1 - - - - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38399562-38399562 G downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - - 2114 -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38399562-38399562 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38399562-38399562 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38399562-38399562 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399562-38399562 G intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399562-38399562 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - - - - - - - - - - 3603 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399562-38399562 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - - - - - - - - - - 3610 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399562-38399562 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - - - - - - - - - - 3603 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399562-38399562 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - - - - - - - - - - 3603 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399562-38399562 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - - - - - - - - - - 3603 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399562-38399562 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - - - - - - - - - - 3603 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399562-38399562 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - - - - - - - - - - 3603 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399562-38399562 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - - - - - - - - - - 3603 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399562-38399562 G upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - - - - - - - - - - 3603 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38399633-38399633 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38399633-38399633 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:38399633-38399633 C non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 1/3 - - - 98 - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38399633-38399633 C upstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 3556 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38399633-38399633 C downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - - 2043 -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38399633-38399633 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38399633-38399633 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38399633-38399633 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399633-38399633 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399633-38399633 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - - - - - - - - - - 3532 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399633-38399633 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - - - - - - - - - - 3539 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399633-38399633 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - - - - - - - - - - 3532 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399633-38399633 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - - - - - - - - - - 3532 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399633-38399633 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - - - - - - - - - - 3532 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399633-38399633 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - - - - - - - - - - 3532 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399633-38399633 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - - - - - - - - - - 3532 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399633-38399633 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - - - - - - - - - - 3532 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399633-38399633 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - - - - - - - - - - 3532 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399719-38399719 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38399719-38399719 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:38399719-38399719 A non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 1/3 - - - 12 - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38399719-38399719 A upstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 3470 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38399719-38399719 A downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - - 1957 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38399719-38399719 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38399719-38399719 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38399719-38399719 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399719-38399719 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399719-38399719 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - - - - - - - - - - 3446 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399719-38399719 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - - - - - - - - - - 3453 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399719-38399719 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - - - - - - - - - - 3446 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399719-38399719 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - - - - - - - - - - 3446 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399719-38399719 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - - - - - - - - - - 3446 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399719-38399719 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - - - - - - - - - - 3446 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399719-38399719 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - - - - - - - - - - 3446 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399719-38399719 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - - - - - - - - - - 3446 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399719-38399719 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - - - - - - - - - - 3446 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399729-38399729 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - rs1357163006 - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38399729-38399729 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - rs1357163006 - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:38399729-38399729 A non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 1/3 - - - 2 - - - - rs1357163006 - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38399729-38399729 A upstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - rs1357163006 3460 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38399729-38399729 A downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - rs1357163006 1947 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38399729-38399729 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - rs1357163006 - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38399729-38399729 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - rs1357163006 - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38399729-38399729 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - rs1357163006 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399729-38399729 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - rs1357163006 - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399729-38399729 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - - - - - - - - - rs1357163006 3436 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399729-38399729 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - - - - - - - - - rs1357163006 3443 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399729-38399729 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - - - - - - - - - rs1357163006 3436 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399729-38399729 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - - - - - - - - - rs1357163006 3436 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399729-38399729 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - - - - - - - - - rs1357163006 3436 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399729-38399729 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - - - - - - - - - rs1357163006 3436 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399729-38399729 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - - - - - - - - - rs1357163006 3436 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399729-38399729 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - - - - - - - - - rs1357163006 3436 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399729-38399729 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - - - - - - - - - rs1357163006 3436 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399730-38399730 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38399730-38399730 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:38399730-38399730 C non_coding_transcript_exon_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene 1/3 - - - 1 - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38399730-38399730 C upstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 3459 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38399730-38399730 C downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - - 1946 -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38399730-38399730 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38399730-38399730 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38399730-38399730 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399730-38399730 C intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399730-38399730 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - - - - - - - - - - 3435 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399730-38399730 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - - - - - - - - - - 3442 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399730-38399730 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - - - - - - - - - - 3435 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399730-38399730 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - - - - - - - - - - 3435 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399730-38399730 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - - - - - - - - - - 3435 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399730-38399730 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - - - - - - - - - - 3435 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399730-38399730 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - - - - - - - - - - 3435 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399730-38399730 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - - - - - - - - - - 3435 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399730-38399730 C upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - - - - - - - - - - 3435 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38399776-38399776 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38399776-38399776 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:38399776-38399776 T upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - - - - - - - - - - 46 -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38399776-38399776 T upstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 3413 1 - - - - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38399776-38399776 T downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - - 1900 -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38399776-38399776 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38399776-38399776 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38399776-38399776 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38399776-38399776 T intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38399776-38399776 T upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - - - - - - - - - - 3389 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38399776-38399776 T upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - - - - - - - - - - 3396 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38399776-38399776 T upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - - - - - - - - - - 3389 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38399776-38399776 T upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - - - - - - - - - - 3389 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38399776-38399776 T upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - - - - - - - - - - 3389 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38399776-38399776 T upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - - - - - - - - - - 3389 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38399776-38399776 T upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - - - - - - - - - - 3389 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38399776-38399776 T upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - - - - - - - - - - 3389 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38399776-38399776 T upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - - - - - - - - - - 3389 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38399799-38399799 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38399799-38399799 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:38399799-38399799 A upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000120555 Transcript ENST00000604116.1 transcribed_unprocessed_pseudogene - - - - - - - - - - 69 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38399799-38399799 A upstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 3390 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38399799-38399799 A downstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - - 1877 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38399799-38399799 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38399799-38399799 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - 1/2 - - - - - - - - - -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38399799-38399799 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399799-38399799 A intron_variant,non_coding_transcript_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399799-38399799 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - - - - - - - - - - 3366 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399799-38399799 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - - - - - - - - - - 3373 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399799-38399799 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - - - - - - - - - - 3366 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399799-38399799 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - - - - - - - - - - 3366 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399799-38399799 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - - - - - - - - - - 3366 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399799-38399799 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - - - - - - - - - - 3366 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399799-38399799 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - - - - - - - - - - 3366 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399799-38399799 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - - - - - - - - - - 3366 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38399799-38399799 A upstream_gene_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - - - - - - - - - - 3366 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407673-38407673 G upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - - - - - - - - - rs1237560115 4817 -1 - HGNC HGNC:30810 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38407673-38407673 G upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - - - - - - - - - rs1237560115 4757 -1 - HGNC HGNC:30810 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:38407673-38407673 G non_coding_transcript_exon_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA 2/18 - - - 405 - - - - rs1237560115 - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38407673-38407673 G non_coding_transcript_exon_variant MODIFIER - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene 1/4 - - - 43 - - - - rs1237560115 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38407673-38407673 G upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - rs1237560115 4823 -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38407673-38407673 G upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - - - - - - - - - rs1237560115 4817 -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38407673-38407673 G upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - - - - - - - - - rs1237560115 4809 -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38407673-38407673 G upstream_gene_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - - - - - - - - - rs1237560115 4746 -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407673-38407673 G upstream_gene_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - - - - - - - - - rs1237560115 4746 -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407673-38407673 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA 2/9 - - - 429 - - - - rs1237560115 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407673-38407673 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - 1/7 - - - - - - - rs1237560115 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407673-38407673 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA 2/10 - - - 429 - - - - rs1237560115 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407673-38407673 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA 2/10 - - - 429 - - - - rs1237560115 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407673-38407673 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA 2/10 - - - 429 - - - - rs1237560115 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407673-38407673 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA 2/10 - - - 429 - - - - rs1237560115 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407673-38407673 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA 2/10 - - - 429 - - - - rs1237560115 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407673-38407673 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA 2/10 - - - 429 - - - - rs1237560115 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407673-38407673 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA 2/10 - - - 429 - - - - rs1237560115 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407716-38407716 C upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - - - - - - - - - rs1181441790 4860 -1 - HGNC HGNC:30810 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38407716-38407716 C upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - - - - - - - - - rs1181441790 4800 -1 - HGNC HGNC:30810 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:38407716-38407716 C non_coding_transcript_exon_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA 2/18 - - - 448 - - - - rs1181441790 - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38407716-38407716 C non_coding_transcript_exon_variant MODIFIER - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene 1/4 - - - 86 - - - - rs1181441790 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38407716-38407716 C upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - rs1181441790 4866 -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38407716-38407716 C upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - - - - - - - - - rs1181441790 4860 -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38407716-38407716 C upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - - - - - - - - - rs1181441790 4852 -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38407716-38407716 C upstream_gene_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - - - - - - - - - rs1181441790 4789 -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407716-38407716 C upstream_gene_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - - - - - - - - - rs1181441790 4789 -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407716-38407716 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA 2/9 - - - 472 - - - - rs1181441790 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407716-38407716 C intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - 1/7 - - - - - - - rs1181441790 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407716-38407716 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA 2/10 - - - 472 - - - - rs1181441790 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407716-38407716 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA 2/10 - - - 472 - - - - rs1181441790 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407716-38407716 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA 2/10 - - - 472 - - - - rs1181441790 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407716-38407716 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA 2/10 - - - 472 - - - - rs1181441790 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407716-38407716 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA 2/10 - - - 472 - - - - rs1181441790 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407716-38407716 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA 2/10 - - - 472 - - - - rs1181441790 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407716-38407716 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA 2/10 - - - 472 - - - - rs1181441790 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407746-38407746 T upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - - - - - - - - - rs1435818394 4890 -1 - HGNC HGNC:30810 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38407746-38407746 T upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - - - - - - - - - rs1435818394 4830 -1 - HGNC HGNC:30810 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:38407746-38407746 T splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - 2/17 - - - - - - - rs1435818394 - 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38407746-38407746 T splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene - 1/3 - - - - - - - rs1435818394 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38407746-38407746 T upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - rs1435818394 4896 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38407746-38407746 T upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - - - - - - - - - rs1435818394 4890 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38407746-38407746 T upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - - - - - - - - - rs1435818394 4882 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38407746-38407746 T upstream_gene_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - - - - - - - - - rs1435818394 4819 -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407746-38407746 T upstream_gene_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - - - - - - - - - rs1435818394 4819 -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407746-38407746 T splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - 2/8 - - - - - - - rs1435818394 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407746-38407746 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - 1/7 - - - - - - - rs1435818394 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407746-38407746 T splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - 2/9 - - - - - - - rs1435818394 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407746-38407746 T splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - 2/9 - - - - - - - rs1435818394 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407746-38407746 T splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - 2/9 - - - - - - - rs1435818394 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407746-38407746 T splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - 2/9 - - - - - - - rs1435818394 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407746-38407746 T splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - 2/9 - - - - - - - rs1435818394 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407746-38407746 T splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - 2/9 - - - - - - - rs1435818394 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407746-38407746 T splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - 2/9 - - - - - - - rs1435818394 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407792-38407792 A upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - - - - - - - - - rs1326324174 4936 -1 - HGNC HGNC:30810 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38407792-38407792 A upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - - - - - - - - - rs1326324174 4876 -1 - HGNC HGNC:30810 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:38407792-38407792 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - 2/17 - - - - - - - rs1326324174 - 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38407792-38407792 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene - 1/3 - - - - - - - rs1326324174 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38407792-38407792 A upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - rs1326324174 4942 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38407792-38407792 A upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - - - - - - - - - rs1326324174 4936 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38407792-38407792 A upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - - - - - - - - - rs1326324174 4928 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38407792-38407792 A upstream_gene_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - - - - - - - - - rs1326324174 4865 -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407792-38407792 A upstream_gene_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - - - - - - - - - rs1326324174 4865 -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407792-38407792 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - 2/8 - - - - - - - rs1326324174 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407792-38407792 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - 1/7 - - - - - - - rs1326324174 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407792-38407792 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - 2/9 - - - - - - - rs1326324174 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407792-38407792 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - 2/9 - - - - - - - rs1326324174 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407792-38407792 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - 2/9 - - - - - - - rs1326324174 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407792-38407792 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - 2/9 - - - - - - - rs1326324174 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407792-38407792 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - 2/9 - - - - - - - rs1326324174 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407792-38407792 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - 2/9 - - - - - - - rs1326324174 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407792-38407792 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - 2/9 - - - - - - - rs1326324174 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38407811-38407811 C upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - - - - - - - - - rs1297335299 4955 -1 - HGNC HGNC:30810 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38407811-38407811 C upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - - - - - - - - - rs1297335299 4895 -1 - HGNC HGNC:30810 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:38407811-38407811 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - 2/17 - - - - - - - rs1297335299 - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38407811-38407811 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene - 1/3 - - - - - - - rs1297335299 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38407811-38407811 C upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - rs1297335299 4961 -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38407811-38407811 C upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - - - - - - - - - rs1297335299 4955 -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38407811-38407811 C upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - - - - - - - - - rs1297335299 4947 -1 - HGNC HGNC:30810 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38407811-38407811 C upstream_gene_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - - - - - - - - - rs1297335299 4884 -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407811-38407811 C upstream_gene_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - - - - - - - - - rs1297335299 4884 -1 - EntrezGene HGNC:30810 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407811-38407811 C intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - 2/8 - - - - - - - rs1297335299 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407811-38407811 C intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - 1/7 - - - - - - - rs1297335299 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407811-38407811 C intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - 2/9 - - - - - - - rs1297335299 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407811-38407811 C intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - 2/9 - - - - - - - rs1297335299 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407811-38407811 C intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - 2/9 - - - - - - - rs1297335299 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407811-38407811 C intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - 2/9 - - - - - - - rs1297335299 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407811-38407811 C intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - 2/9 - - - - - - - rs1297335299 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407811-38407811 C intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - 2/9 - - - - - - - rs1297335299 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407811-38407811 C intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - 2/9 - - - - - - - rs1297335299 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38407816-38407816 T upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000475691.6 lncRNA - - - - - - - - - rs3932487 4960 -1 - HGNC HGNC:30810 - - 1 - - Ensembl - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000489259.5 lncRNA - - - - - - - - - rs3932487 4900 -1 - HGNC HGNC:30810 - - 3 - - Ensembl - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - 2/17 - - - - - - - rs3932487 - 1 - - - - - 1 - - Ensembl - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene - 1/3 - - - - - - - rs3932487 - 1 - - - - - - - - Ensembl - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000685167.1 lncRNA - - - - - - - - - rs3932487 4966 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000686819.1 lncRNA - - - - - - - - - rs3932487 4960 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T upstream_gene_variant MODIFIER SEPTIN7P9 ENSG00000291056 Transcript ENST00000701374.2 lncRNA - - - - - - - - - rs3932487 4952 -1 - HGNC HGNC:30810 - - - - - Ensembl - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T upstream_gene_variant MODIFIER SEPTIN7P9 285961 Transcript NR_027269.2 transcribed_pseudogene - - - - - - - - - rs3932487 4889 -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T upstream_gene_variant MODIFIER SEPTIN7P9 285961 Transcript NR_148868.1 transcribed_pseudogene - - - - - - - - - rs3932487 4889 -1 - EntrezGene HGNC:30810 - - - - - RefSeq - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - 2/8 - - - - - - - rs3932487 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - 1/7 - - - - - - - rs3932487 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - 2/9 - - - - - - - rs3932487 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - 2/9 - - - - - - - rs3932487 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - 2/9 - - - - - - - rs3932487 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - 2/9 - - - - - - - rs3932487 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - 2/9 - - - - - - - rs3932487 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - 2/9 - - - - - - - rs3932487 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.4988 - - - - - - - - - . 10:38407816-38407816 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - 2/9 - - - - - - - rs3932487 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.4988 - - - - - - - - - . 10:38413294-38413294 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - 5/17 - - - - - - - rs190977296 - 1 - - - - - 1 - - Ensembl - A A - - - 0.0016 - - - - - - - - - . 10:38413294-38413294 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene - 1/3 - - - - - - - rs190977296 - 1 - - - - - - - - Ensembl - A A - - - 0.0016 - - - - - - - - - . 10:38413294-38413294 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - 4/8 - - - - - - - rs190977296 - 1 - EntrezGene - - - - - - RefSeq - A A - - - 0.0016 - - - - - - - - - . 10:38413294-38413294 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - 3/7 - - - - - - - rs190977296 - 1 - EntrezGene - - - - - - RefSeq - A A - - - 0.0016 - - - - - - - - - . 10:38413294-38413294 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - 4/9 - - - - - - - rs190977296 - 1 - EntrezGene - - - - - - RefSeq - A A - - - 0.0016 - - - - - - - - - . 10:38413294-38413294 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - 4/9 - - - - - - - rs190977296 - 1 - EntrezGene - - - - - - RefSeq - A A - - - 0.0016 - - - - - - - - - . 10:38413294-38413294 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - 4/9 - - - - - - - rs190977296 - 1 - EntrezGene - - - - - - RefSeq - A A - - - 0.0016 - - - - - - - - - . 10:38413294-38413294 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - 4/9 - - - - - - - rs190977296 - 1 - EntrezGene - - - - - - RefSeq - A A - - - 0.0016 - - - - - - - - - . 10:38413294-38413294 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - 4/9 - - - - - - - rs190977296 - 1 - EntrezGene - - - - - - RefSeq - A A - - - 0.0016 - - - - - - - - - . 10:38413294-38413294 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - 4/9 - - - - - - - rs190977296 - 1 - EntrezGene - - - - - - RefSeq - A A - - - 0.0016 - - - - - - - - - . 10:38413294-38413294 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - 4/9 - - - - - - - rs190977296 - 1 - EntrezGene - - - - - - RefSeq - A A - - - 0.0016 - - - - - - - - - . 10:38413319-38413319 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - 5/17 - - - - - - - - - 1 - - - - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38413319-38413319 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene - 1/3 - - - - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38413319-38413319 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - 4/8 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38413319-38413319 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - 3/7 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38413319-38413319 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - 4/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38413319-38413319 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - 4/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38413319-38413319 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - 4/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38413319-38413319 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - 4/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38413319-38413319 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - 4/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38413319-38413319 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - 4/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38413319-38413319 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - 4/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38413366-38413366 C non_coding_transcript_exon_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA 6/18 - - - 1014 - - - - - - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38413366-38413366 C non_coding_transcript_exon_variant MODIFIER - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene 2/4 - - - 150 - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38413366-38413366 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA 5/9 - - - 884 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38413366-38413366 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA 4/8 - - - 767 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38413366-38413366 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA 5/10 - - - 884 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38413366-38413366 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA 5/10 - - - 884 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38413366-38413366 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA 5/10 - - - 884 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38413366-38413366 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA 5/10 - - - 884 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38413366-38413366 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA 5/10 - - - 884 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38413366-38413366 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA 5/10 - - - 884 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38413366-38413366 C non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA 5/10 - - - 884 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38413415-38413415 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - 6/17 - - - - - - - - - 1 - - - - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38413415-38413415 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene - 2/3 - - - - - - - - - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38413415-38413415 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - 5/8 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413415-38413415 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - 4/7 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413415-38413415 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - 5/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413415-38413415 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - 5/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413415-38413415 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - 5/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413415-38413415 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - 5/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413415-38413415 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - 5/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413415-38413415 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - 5/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413415-38413415 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - 5/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413436-38413436 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - 6/17 - - - - - - - rs1173334248 - 1 - - - - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38413436-38413436 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene - 2/3 - - - - - - - rs1173334248 - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38413436-38413436 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - 5/8 - - - - - - - rs1173334248 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413436-38413436 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - 4/7 - - - - - - - rs1173334248 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413436-38413436 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - 5/9 - - - - - - - rs1173334248 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413436-38413436 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - 5/9 - - - - - - - rs1173334248 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413436-38413436 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - 5/9 - - - - - - - rs1173334248 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413436-38413436 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - 5/9 - - - - - - - rs1173334248 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413436-38413436 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - 5/9 - - - - - - - rs1173334248 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413436-38413436 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - 5/9 - - - - - - - rs1173334248 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38413436-38413436 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - 5/9 - - - - - - - rs1173334248 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38416651-38416651 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - 7/17 - - - - - - - - - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38416651-38416651 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene - 2/3 - - - - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38416651-38416651 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA - 6/8 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38416651-38416651 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA - 5/7 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38416651-38416651 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA - 6/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38416651-38416651 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA - 6/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38416651-38416651 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA - 6/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38416651-38416651 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA - 6/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38416651-38416651 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA - 6/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38416651-38416651 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA - 6/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38416651-38416651 A intron_variant,non_coding_transcript_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA - 6/9 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38416707-38416707 G non_coding_transcript_exon_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA 8/18 - - - 1125 - - - - rs1258925389 - 1 - - - - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38416707-38416707 G non_coding_transcript_exon_variant MODIFIER - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene 3/4 - - - 202 - - - - rs1258925389 - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38416707-38416707 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA 7/9 - - - 995 - - - - rs1258925389 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38416707-38416707 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA 6/8 - - - 878 - - - - rs1258925389 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38416707-38416707 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA 7/10 - - - 995 - - - - rs1258925389 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38416707-38416707 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA 7/10 - - - 995 - - - - rs1258925389 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38416707-38416707 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA 7/10 - - - 995 - - - - rs1258925389 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38416707-38416707 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA 7/10 - - - 995 - - - - rs1258925389 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38416707-38416707 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA 7/10 - - - 995 - - - - rs1258925389 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38416707-38416707 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA 7/10 - - - 995 - - - - rs1258925389 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38416707-38416707 G non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA 7/10 - - - 995 - - - - rs1258925389 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38416729-38416729 T non_coding_transcript_exon_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA 8/18 - - - 1147 - - - - - - 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38416729-38416729 T non_coding_transcript_exon_variant MODIFIER - ENSG00000276805 Transcript ENST00000634512.1 transcribed_unprocessed_pseudogene 3/4 - - - 224 - - - - - - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38416729-38416729 T non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_002957067.2 lncRNA 7/9 - - - 1017 - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38416729-38416729 T non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_002957070.2 lncRNA 6/8 - - - 900 - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38416729-38416729 T non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062117.1 lncRNA 7/10 - - - 1017 - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38416729-38416729 T non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062118.1 lncRNA 7/10 - - - 1017 - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38416729-38416729 T non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062119.1 lncRNA 7/10 - - - 1017 - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38416729-38416729 T non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062120.1 lncRNA 7/10 - - - 1017 - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38416729-38416729 T non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062121.1 lncRNA 7/10 - - - 1017 - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38416729-38416729 T non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062122.1 lncRNA 7/10 - - - 1017 - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38416729-38416729 T non_coding_transcript_exon_variant MODIFIER LOC101929540 101929540 Transcript XR_007062123.1 lncRNA 7/10 - - - 1017 - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38448301-38448301 C upstream_gene_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - - - - - - - - - rs1591089485 4880 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38448301-38448301 C downstream_gene_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - - - - - - - - - rs1591089485 4686 -1 - HGNC HGNC:37758 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38448301-38448301 C non_coding_transcript_exon_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA 18/18 - - - 3361 - - - - rs1591089485 - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38448301-38448301 C non_coding_transcript_exon_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA 8/8 - - - 1401 - - - - rs1591089485 - 1 - EntrezGene - - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38448301-38448301 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401558 CTCF_binding_site - - - - - - - - - rs1591089485 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38448301-38448301 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001178226 open_chromatin_region - - - - - - - - - rs1591089485 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38448311-38448311 C upstream_gene_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - - - - - - - - - - 4870 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38448311-38448311 C downstream_gene_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - - - - - - - - - - 4676 -1 - HGNC HGNC:37758 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38448311-38448311 C non_coding_transcript_exon_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA 18/18 - - - 3371 - - - - - - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38448311-38448311 C non_coding_transcript_exon_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA 8/8 - - - 1411 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38448311-38448311 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401558 CTCF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38448311-38448311 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001178226 open_chromatin_region - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38448326-38448326 C upstream_gene_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - - - - - - - - - rs2804649 4855 1 - - - - - 1 - - Ensembl - T T - - - 0.4948 - - - - - - - - - . 10:38448326-38448326 C downstream_gene_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - - - - - - - - - rs2804649 4661 -1 - HGNC HGNC:37758 - - - - - Ensembl - T T - - - 0.4948 - - - - - - - - - . 10:38448326-38448326 C non_coding_transcript_exon_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA 18/18 - - - 3386 - - - - rs2804649 - 1 - - - - - 1 - - Ensembl - T T - - - 0.4948 - - - - - - - - - . 10:38448326-38448326 C non_coding_transcript_exon_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA 8/8 - - - 1426 - - - - rs2804649 - 1 - EntrezGene - - - - - - RefSeq - T T OK - - 0.4948 - - - - - - - - - . 10:38448326-38448326 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401558 CTCF_binding_site - - - - - - - - - rs2804649 - - - - - - - - - - - - - - - - - 0.4948 - - - - - - - - - . 10:38448326-38448326 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001178226 open_chromatin_region - - - - - - - - - rs2804649 - - - - - - - - - - - - - - - - - 0.4948 - - - - - - - - - . 10:38448414-38448414 G upstream_gene_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - - - - - - - - - rs1591089561 4767 1 - - - - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38448414-38448414 G downstream_gene_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - - - - - - - - - rs1591089561 4573 -1 - HGNC HGNC:37758 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38448414-38448414 G non_coding_transcript_exon_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA 18/18 - - - 3474 - - - - rs1591089561 - 1 - - - - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38448414-38448414 G non_coding_transcript_exon_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA 8/8 - - - 1514 - - - - rs1591089561 - 1 - EntrezGene - - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:38448414-38448414 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401558 CTCF_binding_site - - - - - - - - - rs1591089561 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38448414-38448414 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001178226 open_chromatin_region - - - - - - - - - rs1591089561 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38453217-38453217 C non_coding_transcript_exon_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA 1/3 - - - 37 - - - - rs4006891 - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38453217-38453217 C intron_variant,non_coding_transcript_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - 2/2 - - - - - - - rs4006891 - -1 - HGNC HGNC:37758 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38453217-38453217 C downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - rs4006891 1064 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38453217-38453217 C downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - rs4006891 1064 1 - EntrezGene - - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38453260-38453260 T non_coding_transcript_exon_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA 1/3 - - - 80 - - - - - - 1 - - - - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38453260-38453260 T intron_variant,non_coding_transcript_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - 2/2 - - - - - - - - - -1 - HGNC HGNC:37758 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38453260-38453260 T downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 1107 1 - - - - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38453260-38453260 T downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - - 1107 1 - EntrezGene - - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:38453287-38453287 C non_coding_transcript_exon_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA 1/3 - - - 107 - - - - rs1261449132 - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38453287-38453287 C intron_variant,non_coding_transcript_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - 2/2 - - - - - - - rs1261449132 - -1 - HGNC HGNC:37758 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38453287-38453287 C downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - rs1261449132 1134 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38453287-38453287 C downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - rs1261449132 1134 1 - EntrezGene - - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38453288-38453288 A non_coding_transcript_exon_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA 1/3 - - - 108 - - - - rs1036327762 - 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38453288-38453288 A intron_variant,non_coding_transcript_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - 2/2 - - - - - - - rs1036327762 - -1 - HGNC HGNC:37758 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38453288-38453288 A downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - rs1036327762 1135 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38453288-38453288 A downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - rs1036327762 1135 1 - EntrezGene - - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:38453307-38453307 C non_coding_transcript_exon_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA 1/3 - - - 127 - - - - - - 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38453307-38453307 C intron_variant,non_coding_transcript_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - 2/2 - - - - - - - - - -1 - HGNC HGNC:37758 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38453307-38453307 C downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 1154 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38453307-38453307 C downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - - 1154 1 - EntrezGene - - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:38453393-38453393 T non_coding_transcript_exon_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA 1/3 - - - 213 - - - - rs532954591 - 1 - - - - - 1 - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:38453393-38453393 T intron_variant,non_coding_transcript_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - 2/2 - - - - - - - rs532954591 - -1 - HGNC HGNC:37758 - - - - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:38453393-38453393 T downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - rs532954591 1240 1 - - - - - 1 - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:38453393-38453393 T downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - rs532954591 1240 1 - EntrezGene - - - - - - RefSeq - C C OK - - 0.0002 - - - - - - - - - . 10:38454629-38454629 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 1/2 - - - - - - - - - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38454629-38454629 G non_coding_transcript_exon_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene 1/3 - - - 737 - - - - - - -1 - HGNC HGNC:37758 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38454629-38454629 G downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 2476 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38454629-38454629 G downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - - 2476 1 - EntrezGene - - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38454675-38454675 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 1/2 - - - - - - - - - 1 - - - - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38454675-38454675 G non_coding_transcript_exon_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene 1/3 - - - 691 - - - - - - -1 - HGNC HGNC:37758 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38454675-38454675 G downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 2522 1 - - - - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38454675-38454675 G downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - - 2522 1 - EntrezGene - - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:38454710-38454710 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 1/2 - - - - - - - - - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38454710-38454710 G non_coding_transcript_exon_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene 1/3 - - - 656 - - - - - - -1 - HGNC HGNC:37758 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38454710-38454710 G downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 2557 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38454710-38454710 G downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - - 2557 1 - EntrezGene - - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38454815-38454815 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 1/2 - - - - - - - - - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38454815-38454815 C non_coding_transcript_exon_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene 1/3 - - - 551 - - - - - - -1 - HGNC HGNC:37758 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38454815-38454815 C downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 2662 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38454815-38454815 C downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - - 2662 1 - EntrezGene - - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38455228-38455228 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 1/2 - - - - - - - rs1412407022 - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38455228-38455228 C non_coding_transcript_exon_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene 1/3 - - - 138 - - - - rs1412407022 - -1 - HGNC HGNC:37758 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38455228-38455228 C downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - rs1412407022 3075 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38455228-38455228 C downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - rs1412407022 3075 1 - EntrezGene - - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:38455229-38455229 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 1/2 - - - - - - - - - 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38455229-38455229 A non_coding_transcript_exon_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene 1/3 - - - 137 - - - - - - -1 - HGNC HGNC:37758 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38455229-38455229 A downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 3076 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38455229-38455229 A downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - - 3076 1 - EntrezGene - - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:38455246-38455246 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 1/2 - - - - - - - - - 1 - - - - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38455246-38455246 G non_coding_transcript_exon_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene 1/3 - - - 120 - - - - - - -1 - HGNC HGNC:37758 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38455246-38455246 G downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - - 3093 1 - - - - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38455246-38455246 G downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - - 3093 1 - EntrezGene - - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:38455262-38455262 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 1/2 - - - - - - - rs1348130972 - 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38455262-38455262 A non_coding_transcript_exon_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene 1/3 - - - 104 - - - - rs1348130972 - -1 - HGNC HGNC:37758 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38455262-38455262 A downstream_gene_variant MODIFIER - ENSG00000290535 Transcript ENST00000622550.2 lncRNA - - - - - - - - - rs1348130972 3109 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38455262-38455262 A downstream_gene_variant MODIFIER LINC00999 399744 Transcript NR_024497.2 lncRNA - - - - - - - - - rs1348130972 3109 1 - EntrezGene - - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:38457536-38457536 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 1/2 - - - - - - - rs4006876 - 1 - - - - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38457536-38457536 G upstream_gene_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - - - - - - - - - rs4006876 2171 -1 - HGNC HGNC:37758 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38457563-38457563 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 1/2 - - - - - - - rs4006877 - 1 - - - - - 1 - - Ensembl - C C - - - 0.0018 - - - - - - - - - . 10:38457563-38457563 T upstream_gene_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - - - - - - - - - rs4006877 2198 -1 - HGNC HGNC:37758 - - - - - Ensembl - C C - - - 0.0018 - - - - - - - - - . 10:38457678-38457678 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 1/2 - - - - - - - - - 1 - - - - - 1 - - Ensembl - - - - - - - - - - - - - - - - . 10:38457678-38457678 C upstream_gene_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - - - - - - - - - - 2313 -1 - HGNC HGNC:37758 - - - - - Ensembl - - - - - - - - - - - - - - - - . 10:38457684-38457684 C non_coding_transcript_exon_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA 2/3 - - - 354 - - - - rs2384772 - 1 - - - - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:38457684-38457684 C upstream_gene_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - - - - - - - - - rs2384772 2319 -1 - HGNC HGNC:37758 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38457827-38457827 C non_coding_transcript_exon_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA 2/3 - - - 497 - - - - - - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38457827-38457827 C upstream_gene_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - - - - - - - - - - 2462 -1 - HGNC HGNC:37758 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38457917-38457917 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 2/2 - - - - - - - - - 1 - - - - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38457917-38457917 T upstream_gene_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - - - - - - - - - - 2552 -1 - HGNC HGNC:37758 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38457964-38457964 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - 2/2 - - - - - - - - - 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38457964-38457964 C upstream_gene_variant MODIFIER CICP9 ENSG00000228882 Transcript ENST00000444451.1 processed_pseudogene - - - - - - - - - - 2599 -1 - HGNC HGNC:37758 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38466068-38466068 G non_coding_transcript_exon_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA 3/3 - - - 619 - - - - rs1313172815 - 1 - - - - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:38466089-38466089 G non_coding_transcript_exon_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA 3/3 - - - 640 - - - - rs1226525768 - 1 - - - - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:38466261-38466261 G downstream_gene_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - - - - - - - - - rs17611731 85 1 - - - - - 1 - - Ensembl - T T - - - 0.4694 - - - - - - - - - . 10:38466263-38466263 C downstream_gene_variant MODIFIER - ENSG00000203496 Transcript ENST00000428915.6 lncRNA - - - - - - - - - rs1347130841 87 1 - - - - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:38474135-38474135 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs2224457 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38474194-38474194 G intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38474197-38474197 C intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38600170-38600170 C upstream_gene_variant MODIFIER ABCD1P2 ENSG00000215151 Transcript ENST00000429313.1 unprocessed_pseudogene - - - - - - - - - rs201240221 1248 1 - HGNC HGNC:63 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38617272-38617272 C non_coding_transcript_exon_variant MODIFIER - ENSG00000277133 Transcript ENST00000614270.1 processed_pseudogene 1/1 - - - 18 - - - - rs74435347 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38617276-38617276 T non_coding_transcript_exon_variant MODIFIER - ENSG00000277133 Transcript ENST00000614270.1 processed_pseudogene 1/1 - - - 22 - - - - rs3970139 - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38617400-38617400 G downstream_gene_variant MODIFIER - ENSG00000277133 Transcript ENST00000614270.1 processed_pseudogene - - - - - - - - - rs4070508 56 1 - - - - - - - - Ensembl - T T - - - 0.4702 - - - - - - - - - . 10:38638022-38638022 C non_coding_transcript_exon_variant MODIFIER PABPC1P12 ENSG00000225638 Transcript ENST00000428454.1 processed_pseudogene 1/1 - - - 2115 - - - - rs61842019 - 1 - HGNC HGNC:37994 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38638022-38638022 C downstream_gene_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - - - - - - - - - rs61842019 2949 -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38640885-38640885 C downstream_gene_variant MODIFIER PABPC1P12 ENSG00000225638 Transcript ENST00000428454.1 processed_pseudogene - - - - - - - - - rs4272728 2803 1 - HGNC HGNC:37994 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38640885-38640885 C downstream_gene_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - - - - - - - - - rs4272728 86 -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38640995-38640995 C downstream_gene_variant MODIFIER PABPC1P12 ENSG00000225638 Transcript ENST00000428454.1 processed_pseudogene - - - - - - - - - - 2913 1 - HGNC HGNC:37994 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38640995-38640995 C non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 9/9 - - - 1310 - - - - - - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38641086-38641086 A downstream_gene_variant MODIFIER PABPC1P12 ENSG00000225638 Transcript ENST00000428454.1 processed_pseudogene - - - - - - - - - rs4272729 3004 1 - HGNC HGNC:37994 - - - - - Ensembl - G G - - - - - - - 27340680,23420232 - - - - - . 10:38641086-38641086 A non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 9/9 - - - 1219 - - - - rs4272729 - -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - - - - - 27340680,23420232 - - - - - . 10:38641108-38641108 T downstream_gene_variant MODIFIER PABPC1P12 ENSG00000225638 Transcript ENST00000428454.1 processed_pseudogene - - - - - - - - - rs4253994 3026 1 - HGNC HGNC:37994 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38641108-38641108 T non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 9/9 - - - 1197 - - - - rs4253994 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38641145-38641145 G downstream_gene_variant MODIFIER PABPC1P12 ENSG00000225638 Transcript ENST00000428454.1 processed_pseudogene - - - - - - - - - rs3970194 3063 1 - HGNC HGNC:37994 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38641145-38641145 G non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 9/9 - - - 1160 - - - - rs3970194 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38641211-38641211 C downstream_gene_variant MODIFIER PABPC1P12 ENSG00000225638 Transcript ENST00000428454.1 processed_pseudogene - - - - - - - - - rs923159820 3129 1 - HGNC HGNC:37994 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38641211-38641211 C intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 8/8 - - - - - - - rs923159820 - -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38641273-38641273 A downstream_gene_variant MODIFIER PABPC1P12 ENSG00000225638 Transcript ENST00000428454.1 processed_pseudogene - - - - - - - - - rs1391338360 3191 1 - HGNC HGNC:37994 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38641273-38641273 A intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 8/8 - - - - - - - rs1391338360 - -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38645501-38645501 C intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 7/8 - - - - - - - rs78044265 - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38646214-38646214 A intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 7/8 - - - - - - - rs4313500 - -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - 0.0939 - - - - - - - - - . 10:38646304-38646304 C intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 7/8 - - - - - - - rs4633382 - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38646372-38646372 G non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 7/9 - - - 923 - - - - rs4436477 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38646411-38646411 C non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 7/9 - - - 884 - - - - rs4474366 - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38646468-38646468 A intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 6/8 - - - - - - - - - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38646502-38646502 C intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 6/8 - - - - - - - rs77457819 - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38646556-38646556 A intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 6/8 - - - - - - - rs4450108 - -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38650192-38650192 A intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 6/8 - - - - - - - rs4070325 - -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38650279-38650279 G non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 6/9 - - - 829 - - - - rs4070323 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38650456-38650456 T intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 5/8 - - - - - - - rs4070322 - -1 - HGNC HGNC:43582 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38650505-38650505 G intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 5/8 - - - - - - - rs1404748477 - -1 - HGNC HGNC:43582 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38651153-38651153 C intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 5/8 - - - - - - - - - -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38651156-38651156 C intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 5/8 - - - - - - - - - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38651226-38651226 C splice_donor_variant,non_coding_transcript_variant HIGH SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 5/8 - - - - - - - rs3970187 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38651250-38651250 G non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 5/9 - - - 701 - - - - rs3970186 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38651282-38651282 A non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 5/9 - - - 669 - - - - rs2871464 - -1 - HGNC HGNC:43582 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38651327-38651327 A non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 5/9 - - - 624 - - - - rs7083065 - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - 0.4944 - - - - - - - - - . 10:38671910-38671910 G non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 4/9 - - - 612 - - - - rs61840790 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38671984-38671985 A non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 4/9 - - - 536-537 - - - - rs71010455 - -1 - HGNC HGNC:43582 - - - - - Ensembl - - - - - - 0.4075 - - - - - - - - - . 10:38684668-38684668 T intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 3/8 - - - - - - - - - -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38684795-38684795 T intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 3/8 - - - - - - - rs61842165 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38684813-38684813 G splice_region_variant,intron_variant,non_coding_transcript_variant LOW SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 3/8 - - - - - - - rs61842166 - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38684869-38684869 G non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 3/9 - - - 394 - - - - rs75870011 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38684944-38684944 A non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 3/9 - - - 319 - - - - - - -1 - HGNC HGNC:43582 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38684968-38684968 C intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 2/8 - - - - - - - rs61842167 - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38684993-38684993 C intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 2/8 - - - - - - - rs78243982 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38685045-38685045 C intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 2/8 - - - - - - - rs200067205 - -1 - HGNC HGNC:43582 - - - - - Ensembl - - - - - - - - - - - - - - - - . 10:38686126-38686126 C intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 2/8 - - - - - - - rs12773894 - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38686133-38686133 T intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 2/8 - - - - - - - rs12767880 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38686185-38686185 C intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 2/8 - - - - - - - rs538724461 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - 0.0002 - - - - - - - - - . 10:38686197-38686197 C intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 2/8 - - - - - - - rs12767924 - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38686431-38686431 A intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 1/8 - - - - - - - rs1412385170 - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38686561-38686561 T intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 1/8 - - - - - - - rs936371865 - -1 - HGNC HGNC:43582 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38688812-38688812 T intron_variant,non_coding_transcript_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 1/8 - - - - - - - rs369473066 - -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38688892-38688892 A splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - 1/8 - - - - - - - rs534232455 - -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - 0.0004 - - - - - - - - - . 10:38688913-38688913 G non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 1/9 - - - 156 - - - - - - -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38688917-38688917 A non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 1/9 - - - 152 - - - - - - -1 - HGNC HGNC:43582 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38688948-38688948 A non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 1/9 - - - 121 - - - - rs1033524168 - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38689006-38689006 T non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 1/9 - - - 63 - - - - - - -1 - HGNC HGNC:43582 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38689043-38689043 A non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 1/9 - - - 26 - - - - rs200282176 - -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38689044-38689044 C non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 1/9 - - - 25 - - - - - - -1 - HGNC HGNC:43582 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38689058-38689058 G non_coding_transcript_exon_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene 1/9 - - - 11 - - - - rs200954074 - -1 - HGNC HGNC:43582 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38689078-38689078 A upstream_gene_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - - - - - - - - - rs572623862 10 -1 - HGNC HGNC:43582 - - - - - Ensembl - G G - - - 0.0008 - - - - - - - - - . 10:38689087-38689087 T upstream_gene_variant MODIFIER SLC9B1P3 ENSG00000233867 Transcript ENST00000452667.2 unprocessed_pseudogene - - - - - - - - - rs4070216 19 -1 - HGNC HGNC:43582 - - - - - Ensembl - A A - - - 0.4702 - - - - - - - - - . 10:38696725-38696725 C non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 302 - - - - - - 1 - HGNC HGNC:38682 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38696725-38696725 C non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 130 - - - - - - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38696739-38696739 C non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 316 - - - - rs202165750 - 1 - HGNC HGNC:38682 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38696739-38696739 C non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 144 - - - - rs202165750 - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38696766-38696766 T non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 343 - - - - rs377556079 - 1 - HGNC HGNC:38682 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38696766-38696766 T non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 171 - - - - rs377556079 - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:38696798-38696798 A non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 375 - - - - rs1441379823 - 1 - HGNC HGNC:38682 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38696798-38696798 A non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 203 - - - - rs1441379823 - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38696854-38696854 C non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 431-432 - - - - - - 1 - HGNC HGNC:38682 - - - - - Ensembl - - - - - - - - - - - - - - - - . 10:38696854-38696854 C non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 259-260 - - - - - - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:38696925-38696925 G non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 502 - - - - - - 1 - HGNC HGNC:38682 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38696925-38696925 G non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 330 - - - - - - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38696951-38696951 C non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 528 - - - - - - 1 - HGNC HGNC:38682 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38696951-38696951 C non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 356 - - - - - - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38697013-38697013 A non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 590 - - - - rs201133963 - 1 - HGNC HGNC:38682 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38697013-38697013 A non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 418 - - - - rs201133963 - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38697114-38697114 A non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 691 - - - - rs545679503 - 1 - HGNC HGNC:38682 - - - - - Ensembl - G G - - - 0.0072 - - - - - - - - - . 10:38697114-38697114 A non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 519 - - - - rs545679503 - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - G G - - - 0.0072 - - - - - - - - - . 10:38697169-38697169 G non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 746 - - - - - - 1 - HGNC HGNC:38682 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38697169-38697169 G non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 574 - - - - - - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38697172-38697172 G non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 749 - - - - rs3878066 - 1 - HGNC HGNC:38682 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38697172-38697172 G non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 577 - - - - rs3878066 - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38697251-38697251 T non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 828 - - - - - - 1 - HGNC HGNC:38682 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38697251-38697251 T non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 656 - - - - - - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:38697271-38697271 A non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 848 - - - - - - 1 - HGNC HGNC:38682 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38697271-38697271 A non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 676 - - - - - - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:38697361-38697361 C non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 938 - - - - rs4070171 - 1 - HGNC HGNC:38682 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38697361-38697361 C non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 766 - - - - rs4070171 - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38697377-38697377 C non_coding_transcript_exon_variant MODIFIER ACTR3BP5 ENSG00000227264 Transcript ENST00000448440.1 processed_pseudogene 1/1 - - - 954 - - - - - - 1 - HGNC HGNC:38682 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38697377-38697377 C non_coding_transcript_exon_variant MODIFIER ACTR3BP5 399746 Transcript NR_045000.1 transcribed_pseudogene 1/1 - - - 782 - - - - - - 1 - EntrezGene HGNC:38682 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:38713065-38713065 C upstream_gene_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene - - - - - - - - - rs4070136 130 1 - HGNC HGNC:43581 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38713123-38713123 C upstream_gene_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene - - - - - - - - - rs4070135 72 1 - HGNC HGNC:43581 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38713198-38713198 T non_coding_transcript_exon_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene 1/3 - - - 4 - - - - rs182478947 - 1 - HGNC HGNC:43581 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38713251-38713251 C non_coding_transcript_exon_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene 1/3 - - - 57 - - - - rs4070134 - 1 - HGNC HGNC:43581 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38713304-38713304 A intron_variant,non_coding_transcript_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene - 1/2 - - - - - - - - - 1 - HGNC HGNC:43581 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38713356-38713356 C intron_variant,non_coding_transcript_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene - 1/2 - - - - - - - rs1215001154 - 1 - HGNC HGNC:43581 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38713424-38713424 A intron_variant,non_coding_transcript_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene - 1/2 - - - - - - - rs4070132 - 1 - HGNC HGNC:43581 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38717931-38717931 G intron_variant,non_coding_transcript_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene - 1/2 - - - - - - - rs74656471 - 1 - HGNC HGNC:43581 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38717932-38717932 A intron_variant,non_coding_transcript_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene - 1/2 - - - - - - - rs75120951 - 1 - HGNC HGNC:43581 - - - - - Ensembl - G G - - - 0.0002 - - - - - - - - - . 10:38717983-38717983 G intron_variant,non_coding_transcript_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene - 1/2 - - - - - - - - - 1 - HGNC HGNC:43581 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38718007-38718007 A intron_variant,non_coding_transcript_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene - 1/2 - - - - - - - rs2208481 - 1 - HGNC HGNC:43581 - - - - - Ensembl - G G - - - 0.9934 - - - - - - - - - . 10:38718099-38718099 A non_coding_transcript_exon_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene 2/3 - - - 138 - - - - rs77501316 - 1 - HGNC HGNC:43581 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38718158-38718158 A intron_variant,non_coding_transcript_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene - 2/2 - - - - - - - - - 1 - HGNC HGNC:43581 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:38718177-38718177 A intron_variant,non_coding_transcript_variant MODIFIER CHEK2P5 ENSG00000234541 Transcript ENST00000423877.2 unprocessed_pseudogene - 2/2 - - - - - - - rs3970267 - 1 - HGNC HGNC:43581 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38736636-38736636 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs10450361 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38736665-38736665 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1591254274 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38736676-38736676 G intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38762221-38762221 C non_coding_transcript_exon_variant MODIFIER - ENSG00000227679 Transcript ENST00000423458.1 processed_pseudogene 1/1 - - - 271 - - - - rs4294503 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38783003-38783003 C upstream_gene_variant MODIFIER - ENSG00000233832 Transcript ENST00000427864.1 processed_pseudogene - - - - - - - - - rs3970298 1 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:38783003-38783003 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000259030 CTCF_binding_site - - - - - - - - - rs3970298 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38783003-38783003 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401592 open_chromatin_region - - - - - - - - - rs3970298 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38783017-38783017 T non_coding_transcript_exon_variant MODIFIER - ENSG00000233832 Transcript ENST00000427864.1 processed_pseudogene 1/1 - - - 14 - - - - rs4069956 - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:38783017-38783017 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000259030 CTCF_binding_site - - - - - - - - - rs4069956 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38783017-38783017 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401592 open_chromatin_region - - - - - - - - - rs4069956 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38783081-38783081 T non_coding_transcript_exon_variant MODIFIER - ENSG00000233832 Transcript ENST00000427864.1 processed_pseudogene 1/1 - - - 78 - - - - rs4069955 - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38783081-38783081 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000259030 CTCF_binding_site - - - - - - - - - rs4069955 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38783081-38783081 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401592 open_chromatin_region - - - - - - - - - rs4069955 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38783109-38783109 G downstream_gene_variant MODIFIER - ENSG00000233832 Transcript ENST00000427864.1 processed_pseudogene - - - - - - - - - rs4069954 1 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:38783109-38783109 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000259030 CTCF_binding_site - - - - - - - - - rs4069954 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38783109-38783109 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401592 open_chromatin_region - - - - - - - - - rs4069954 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38941637-38941637 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1275644628 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38941671-38941671 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1404160558 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38941702-38941702 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1229148459 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38954967-38954967 A intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38955134-38955134 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1448606417 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38955158-38955158 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1428889828 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38955178-38955178 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1205144450 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:38955196-38955196 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs2890141 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41844002-41844002 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943728 CTCF_binding_site - - - - - - - - - rs12571213 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41844002-41844002 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00182216039 - - - - - - - - - - rs12571213 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0570 15 N -0.043 TEAD4::PITX1 . 10:41844002-41844002 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00523731103 - - - - - - - - - - rs12571213 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0527 16 N -0.050 TEAD4::DLX2,TEAD4::DLX3 . 10:41844002-41844002 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00043899859 - - - - - - - - - - rs12571213 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0053 17 N -0.034 CUX1::RFX5 . 10:41844002-41844002 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00522474270 - - - - - - - - - - rs12571213 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0057 16 N -0.023 CUX1::SRF . 10:41844002-41844002 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs12571213 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41844057-41844057 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943728 CTCF_binding_site - - - - - - - - - rs12570023 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41844057-41844057 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209321002 - - - - - - - - - - rs12570023 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0555 18 N -0.054 TEAD4::HES7 . 10:41844057-41844057 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00522662224 - - - - - - - - - - rs12570023 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0401 4 Y -0.047 MYBL1::MAX . 10:41844057-41844057 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208919258 - - - - - - - - - - rs12570023 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0530 6 N -0.038 TEAD4::ELK1 . 10:41844057-41844057 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs12570023 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41844066-41844066 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943728 CTCF_binding_site - - - - - - - - - rs12571209 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41844066-41844066 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00584686621 - - - - - - - - - - rs12571209 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0086 1 N -0.005 EGR1,EGR2,EGR4,EGR3 . 10:41844066-41844066 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206122353 - - - - - - - - - - rs12571209 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0218 15 N 0.028 GCM1::ELK1 . 10:41844066-41844066 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs12571209 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41844129-41844129 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943728 CTCF_binding_site - - - - - - - - - rs12570680 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41844129-41844129 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209332962 - - - - - - - - - - rs12570680 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0572 14 N -0.027 TEAD4::PITX1 . 10:41844129-41844129 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00205969025 - - - - - - - - - - rs12570680 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0306 2 N -0.004 HOXB2::ELF1 . 10:41844129-41844129 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00205865742 - - - - - - - - - - rs12570680 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0307 4 N -0.019 HOXB2::ELF1 . 10:41844129-41844129 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs12570680 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41844160-41844160 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943728 CTCF_binding_site - - - - - - - - - rs4038980 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41844160-41844160 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209326877 - - - - - - - - - - rs4038980 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0565 19 Y -0.043 TEAD4::MAX . 10:41844160-41844160 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs4038980 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41844216-41844216 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs4249293 - - - - - - - - - - - - - - - - - 0.2881 - - - - - - - - - . 10:41844229-41844229 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs12776742 - - - - - - - - - - - - - - - - - 0.3770 - - - - - - - - - . 10:41845323-41845323 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000259085 CTCF_binding_site - - - - - - - - - rs78225853 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41845323-41845323 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs78225853 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41846382-41846382 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs112997712 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41846435-41846435 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs61846492 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41846451-41846451 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs71502110 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41847433-41847433 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs28888449 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41847489-41847489 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs113315867 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41850732-41850732 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs10908998 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41850778-41850778 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs9702341 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41851003-41851003 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs76015352 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41851664-41851664 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs11812973 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41851725-41851725 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs28883910 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41851778-41851778 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs76307191 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41851781-41851781 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs9702144 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41851794-41851794 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs11813891 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41851816-41851816 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs9702490 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41851915-41851917 - intergenic_variant MODIFIER - - - - - - - - - - - - - - rs72505277 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41852845-41852845 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943730 CTCF_binding_site - - - - - - - - - rs9665546 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41852845-41852845 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00191977710 - - - - - - - - - - rs9665546 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0067 3 N -0.070 E2F1::ELK1 . 10:41852845-41852845 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00526390869 - - - - - - - - - - rs9665546 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0481 7 N -0.083 RFX3::SRF . 10:41852845-41852845 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00032836192 - - - - - - - - - - rs9665546 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0014 8 Y -0.099 ATF4::CEBPB,ATF4::CEBPD,ATF4::TEF,ATF4,CEBPG::ATF4 . 10:41852845-41852845 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206505311 - - - - - - - - - - rs9665546 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0015 7 Y -0.103 XBP1,CREB3,BATF3,JDP2,FOS,ATF7,JUN . 10:41852845-41852845 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00550223993 - - - - - - - - - - rs9665546 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0290 13 N -0.053 HNF4A,RXRG,NR2F6,NR2F1,NR2C2,RXRA,RXRB . 10:41852845-41852845 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00192678748 - - - - - - - - - - rs9665546 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0072 17 Y -0.066 E2F1::HES7 . 10:41852845-41852845 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206044267 - - - - - - - - - - rs9665546 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0305 1 N -0.002 HOXB2::ELF1 . 10:41852845-41852845 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00088101018 - - - - - - - - - - rs9665546 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0215 15 Y -0.074 GCM1::CEBPB . 10:41852845-41852845 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs9665546 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41852932-41852932 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943730 CTCF_binding_site - - - - - - - - - rs4378934 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41852932-41852932 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206545291 - - - - - - - - - - rs4378934 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0286 12 N 0.036 HNF1B,HNF1A . 10:41852932-41852932 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00524810765 - - - - - - - - - - rs4378934 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0522 15 N 0.004 TEAD4::CEBPD . 10:41852932-41852932 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs4378934 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41854174-41854174 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs59445689 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41854179-41854179 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs9794054 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41854488-41854488 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs2133339 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41854549-41854549 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs9663117 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41854884-41854884 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs3998564 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41854973-41854973 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs9663102 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41855018-41855018 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs10399966 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41855048-41855048 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs4124033 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41855162-41855162 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs9703375 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41855178-41855178 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs2169993 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41855178-41855178 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs2169993 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:41855200-41855200 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs9702218 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42066638-42066638 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1462505777 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42066737-42066737 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1212412096 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067119-42067119 A intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067134-42067134 A intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067151-42067151 A intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067184-42067184 C intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067184-42067184 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1319145800 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067221-42067221 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943744 CTCF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067221-42067221 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00524689797 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0305 11 N -0.007 HOXB2::ELF1 . 10:42067221-42067221 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00211578788 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0581 9 N -0.001 TEAD4::TCF3 . 10:42067221-42067221 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00522177601 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0306 7 N -0.029 HOXB2::ELF1 . 10:42067221-42067221 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00211574873 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0544 7 N -0.038 TEAD4::FIGLA . 10:42067221-42067221 T intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067229-42067229 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943744 CTCF_binding_site - - - - - - - - - rs1260403626 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067229-42067229 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00523442262 - - - - - - - - - - rs1260403626 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0216 8 N -0.122 GCM1::ELF1 . 10:42067229-42067229 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00524689797 - - - - - - - - - - rs1260403626 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0305 19 Y -0.032 HOXB2::ELF1 . 10:42067229-42067229 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206722980 - - - - - - - - - - rs1260403626 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0357 9 Y -0.030 KLF14,SP4,KLF16,SP8,SP3,SP1 . 10:42067229-42067229 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00522177601 - - - - - - - - - - rs1260403626 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0306 15 N -0.115 HOXB2::ELF1 . 10:42067229-42067229 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00198656983 - - - - - - - - - - rs1260403626 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0131 3 N -0.024 ETV7,ETS1,ELK1::SPDEF . 10:42067229-42067229 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1260403626 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067277-42067277 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943744 CTCF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067277-42067277 A intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067308-42067308 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943744 CTCF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00037064371 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0087 4 N 0.014 ELF1,EHF,ELF4,ELF5,ELF3,ELF2 . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206465768 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0101 2 N 0.001 ELK1::HOXB13,FLI1::HOXB13,HOXB13::ELK1,HOXD12::ELK3,HOXD12::ETV1,HOXD12::ETV4,ETV2::HOXB13,ETV5::HOXB13,ERF::HOXB13,HOXD12::ELK1 . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00141748192 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0505 6 Y 0.044 SPI1,SPIB,SPIC,TEAD4::SPIB . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00145704742 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0540 12 N -0.006 TEAD4::ERG . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00037902976 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0162 12 N 0.002 ETV2::RFX5 . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00199357950 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0370 4 N -0.042 MEIS1::ELF1 . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206599089 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0113 12 N 0.037 TFAP4::ETV1,TFAP4::ETV4,TFAP4::FLI1,ETV2::FIGLA,ERF::FIGLA,FLI1::FIGLA,FLI1::TCF3,ETV5::FIGLA . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00211301602 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0535 6 N -0.007 TEAD4::EOMES . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00142960960 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0531 2 N -0.002 TEAD4::ELK1 . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00035474886 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0088 4 N 0.015 ELF1,ELF4,ELF5,ELF3,ELF2,ETV7 . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00035854305 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0103 12 N -0.007 ELK1::ONECUT2 . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00192349877 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0066 10 N -0.036 E2F1::ELK1 . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00524678894 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0120 12 Y 0.053 ERF::MAX,FLI1::MAX . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00197737767 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0028 14 Y -0.013 CEBPG::ELF1 . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00145881739 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0532 9 N 0.006 TEAD4::ELK1 . 10:42067308-42067308 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00522034960 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0135 14 N -0.005 ETV2::CLOCK,ETV5::CLOCK . 10:42067308-42067308 G intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067350-42067350 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943744 CTCF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067350-42067350 C intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067652-42067652 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943744 CTCF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42067652-42067652 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206506497 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0015 3 N -0.054 XBP1,CREB3,BATF3,JDP2,FOS,ATF7,JUN . 10:42067652-42067652 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00210896803 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0573 4 Y -0.108 TEAD4::RFX5 . 10:42067652-42067652 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00152461928 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0550 17 N 0.009 TEAD4::FOXI1 . 10:42067652-42067652 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM01052157444 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0363 10 N 0.027 MAFF,MAFG,MAFK . 10:42067652-42067652 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00522476608 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0240 5 N -0.012 GCM1::MAX . 10:42067652-42067652 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00211158372 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0564 4 Y -0.063 TEAD4::MAX . 10:42067652-42067652 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00210367175 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0555 4 Y -0.148 TEAD4::HES7 . 10:42067652-42067652 C intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42070385-42070385 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1479818178 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42070446-42070446 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1199364978 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42070518-42070518 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1395403207 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42070585-42070585 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1417643340 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42070671-42070671 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1179451305 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42070743-42070743 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1267134242 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42070830-42070830 T intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42071228-42071228 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1358852563 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42071235-42071235 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1333513095 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42071354-42071354 A intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42071357-42071357 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1239858933 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42074088-42074088 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1375524656 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42074160-42074160 T intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42074313-42074313 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1305670768 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42074435-42074435 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1163076081 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42074940-42074940 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1588823416 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42078480-42078480 A intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42078495-42078495 A intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42079815-42079815 T intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42079904-42079904 C intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42080014-42080014 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1358810174 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42080239-42080239 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1413804732 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42083905-42083905 A intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42083920-42083920 A intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42083937-42083937 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1376487514 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42085339-42085339 C intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42085449-42085449 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943745 CTCF_binding_site - - - - - - - - - rs1198406606 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00210072673 - - - - - - - - - - rs1198406606 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0545 19 N -0.003 TEAD4::FIGLA . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00526918157 - - - - - - - - - - rs1198406606 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0481 3 N -0.052 RFX3::SRF . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00207145548 - - - - - - - - - - rs1198406606 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0290 9 N -0.075 HNF4A,RXRG,NR2F6,NR2F1,NR2C2,RXRA,RXRB . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00211400754 - - - - - - - - - - rs1198406606 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0556 3 N -0.068 TEAD4::HOXA13 . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00524849424 - - - - - - - - - - rs1198406606 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0487 1 N -0.067 RXRG,RXRA,RORB . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00210129401 - - - - - - - - - - rs1198406606 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0535 5 N 0.051 TEAD4::EOMES . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00210606354 - - - - - - - - - - rs1198406606 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0553 15 N -0.082 TEAD4::HES7 . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00210954909 - - - - - - - - - - rs1198406606 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0568 14 N 0.006 TEAD4::PAX5 . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209740899 - - - - - - - - - - rs1198406606 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0526 10 N -0.028 TEAD4::CLOCK . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00526183188 - - - - - - - - - - rs1198406606 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0541 14 Y -0.028 TEAD4::ESRRB . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00526042643 - - - - - - - - - - rs1198406606 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0614 3 N -0.056 YY2,YY1 . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209085586 - - - - - - - - - - rs1198406606 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0534 15 N -0.013 TEAD4::EOMES . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206553308 - - - - - - - - - - rs1198406606 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0089 8 N -0.053 ELF1,ELF2,ELK1,FLI1,ERG,ETS1,ETV6,FOXO1::ELK3,FOXO1::ETV1,ETV1,ETV2,ERF,ELK3,ETV3,GABPA,ETS2,ELK4,FEV,ETV5,ETV4 . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206030145 - - - - - - - - - - rs1198406606 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0306 2 N 0.006 HOXB2::ELF1 . 10:42085449-42085449 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206783919 - - - - - - - - - - rs1198406606 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0389 11 N 0.032 MYBL2,MYBL1 . 10:42085449-42085449 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1198406606 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42089200-42089200 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1405913451 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42090766-42090766 T intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42091339-42091339 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1416654028 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42091491-42091491 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1462992103 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42095455-42095455 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1364294625 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42095576-42095576 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1368322110 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42099106-42099106 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1178951367 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42099273-42099273 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1453091272 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42099279-42099279 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1325730145 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42099715-42099715 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1281520670 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42099787-42099787 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1191167216 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42100073-42100073 T intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42100202-42100202 C intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42100211-42100211 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1303886645 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42100277-42100277 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1479576438 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42101658-42101658 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943749 CTCF_binding_site - - - - - - - - - rs4949041 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42101658-42101658 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs4949041 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42101729-42101729 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943749 CTCF_binding_site - - - - - - - - - rs4949042 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208751869 - - - - - - - - - - rs4949042 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0549 3 Y -0.081 TEAD4::FOXI1 . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM01051880085 - - - - - - - - - - rs4949042 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0529 12 N -0.027 TEAD4::DLX2,TEAD4::DLX3 . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00068024462 - - - - - - - - - - rs4949042 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0327 6 N -0.013 HOXB2::RFX5 . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM01051992172 - - - - - - - - - - rs4949042 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0548 17 N -0.006 TEAD4::FOXI1 . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206210801 - - - - - - - - - - rs4949042 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0590 4 N 0.014 TFAP2C::ELK1 . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208090956 - - - - - - - - - - rs4949042 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0336 6 Y -0.064 HOXB2::TCF3 . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00069415572 - - - - - - - - - - rs4949042 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0326 10 N 0.003 HOXB2::RFX5 . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM01052208121 - - - - - - - - - - rs4949042 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0526 3 Y -0.047 TEAD4::CLOCK . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00211299254 - - - - - - - - - - rs4949042 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0551 6 N -0.094 TEAD4::GATA3 . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206159584 - - - - - - - - - - rs4949042 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0119 8 Y -0.085 HOXD12::ETV1,HOXD12::ETV4,HOXD12::ELK1 . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208102506 - - - - - - - - - - rs4949042 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0581 3 Y -0.133 TEAD4::TCF3 . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00000654391 - - - - - - - - - - rs4949042 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0042 10 Y -0.047 CTCF . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208630116 - - - - - - - - - - rs4949042 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0544 10 Y -0.055 TEAD4::FIGLA . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM01051836135 - - - - - - - - - - rs4949042 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0524 17 Y -0.035 TEAD4::CLOCK . 10:42101729-42101729 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00011234190 - - - - - - - - - - rs4949042 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0176 15 N -0.039 ETV5::TCF3 . 10:42101729-42101729 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs4949042 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42102661-42102661 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs4472892 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42102702-42102702 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs9794174 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42102725-42102725 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs3989086 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104155-42104155 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs148121689 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104216-42104216 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943750 CTCF_binding_site - - - - - - - - - rs1134535 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104216-42104216 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00521854473 - - - - - - - - - - rs1134535 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0595 15 Y -0.070 TFAP2C::MAX . 10:42104216-42104216 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206210760 - - - - - - - - - - rs1134535 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0590 13 Y -0.048 TFAP2C::ELK1 . 10:42104216-42104216 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00522129299 - - - - - - - - - - rs1134535 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0365 1 Y -0.078 MAX,TFAP4::MAX,CLOCK::BHLHA15 . 10:42104216-42104216 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206021871 - - - - - - - - - - rs1134535 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0392 5 Y -0.093 MYBL1::ELF1 . 10:42104216-42104216 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00523230755 - - - - - - - - - - rs1134535 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0596 16 Y -0.063 TFAP2C::MAX . 10:42104216-42104216 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00207454648 - - - - - - - - - - rs1134535 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0423 1 N -0.004 NR2F6,NR2F1,RARB,RARA,RARG . 10:42104216-42104216 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00521963036 - - - - - - - - - - rs1134535 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0260 16 N -0.070 GCM2::MAX . 10:42104216-42104216 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1134535 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104232-42104232 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943750 CTCF_binding_site - - - - - - - - - rs151104599 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104232-42104232 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00210401448 - - - - - - - - - - rs151104599 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0557 12 N 0.087 TEAD4::HOXA13,TEAD4::HOXB13 . 10:42104232-42104232 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00522129299 - - - - - - - - - - rs151104599 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0365 17 Y 0.005 MAX,TFAP4::MAX,CLOCK::BHLHA15 . 10:42104232-42104232 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206026200 - - - - - - - - - - rs151104599 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0205 9 Y -0.017 ETV2::FOXI1,ERF::FOXI1,FOXO1::ELF1,FOXO1::ELK1,FLI1::FOXI1,ETV5::FOXI1,FOXJ2::ELF1,ERF::FOXO1,FOXO1::ELK3,FOXO1::ETV4,FOXO1::FLI1,ETV5::FOXO1 . 10:42104232-42104232 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs151104599 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104286-42104286 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943750 CTCF_binding_site - - - - - - - - - rs113426781 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104286-42104286 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00522975561 - - - - - - - - - - rs113426781 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0169 11 Y -0.109 ETV2::TCF3,ETV5::TCF3 . 10:42104286-42104286 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00183457943 - - - - - - - - - - rs113426781 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0575 11 N -0.013 TEAD4::SOX15 . 10:42104286-42104286 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00207139437 - - - - - - - - - - rs113426781 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0290 2 N -0.015 HNF4A,RXRG,NR2F6,NR2F1,NR2C2,RXRA,RXRB . 10:42104286-42104286 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00210111236 - - - - - - - - - - rs113426781 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0558 17 N -0.011 TEAD4::HOXA13 . 10:42104286-42104286 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00210505234 - - - - - - - - - - rs113426781 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0569 17 N -0.027 TEAD4::PITX1 . 10:42104286-42104286 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206491314 - - - - - - - - - - rs113426781 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0456 4 Y -0.070 POU2F1::ELK1,POU2F1::ETV1,POU2F1::ETV4 . 10:42104286-42104286 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209957575 - - - - - - - - - - rs113426781 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0533 4 N -0.037 TEAD4::ELK3 . 10:42104286-42104286 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00521871541 - - - - - - - - - - rs113426781 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0481 15 N 0.006 RFX3::SRF . 10:42104286-42104286 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00604209437 - - - - - - - - - - rs113426781 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0451 4 Y -0.034 POU2F1::ELK1 . 10:42104286-42104286 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209860323 - - - - - - - - - - rs113426781 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0524 8 N 0.003 TEAD4::CLOCK . 10:42104286-42104286 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs113426781 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104319-42104319 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943750 CTCF_binding_site - - - - - - - - - rs139875229 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208698643 - - - - - - - - - - rs139875229 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0538 4 Y -0.081 TEAD4::EOMES . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00207217283 - - - - - - - - - - rs139875229 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0409 15 N -0.020 NFATC1 . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00210910121 - - - - - - - - - - rs139875229 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0573 4 Y -0.108 TEAD4::RFX5 . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208989826 - - - - - - - - - - rs139875229 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0550 17 N 0.009 TEAD4::FOXI1 . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00523284421 - - - - - - - - - - rs139875229 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0239 28 N 0.003 GCM1::MAX . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00210932960 - - - - - - - - - - rs139875229 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0572 4 Y -0.104 TEAD4::PITX1 . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209314895 - - - - - - - - - - rs139875229 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0576 15 N -0.049 TEAD4::SOX15 . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00206811017 - - - - - - - - - - rs139875229 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0363 10 N 0.027 MAFF,MAFG,MAFK . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00211018493 - - - - - - - - - - rs139875229 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0563 4 Y -0.078 TEAD4::HOXB13 . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00522018852 - - - - - - - - - - rs139875229 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0240 5 N -0.012 GCM1::MAX . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209287520 - - - - - - - - - - rs139875229 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0564 4 Y -0.063 TEAD4::MAX . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00525606982 - - - - - - - - - - rs139875229 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0015 3 N -0.054 XBP1,CREB3,BATF3,JDP2,FOS,ATF7,JUN . 10:42104319-42104319 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209321168 - - - - - - - - - - rs139875229 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0555 4 Y -0.148 TEAD4::HES7 . 10:42104319-42104319 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs139875229 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104485-42104485 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000943750 CTCF_binding_site - - - - - - - - - rs4949054 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104485-42104485 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs4949054 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104606-42104606 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs146226186 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42104606-42104606 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs146226186 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42176823-42176823 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs12269224 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42176856-42176856 T intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42176911-42176911 A intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42176921-42176921 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1282818236 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42176922-42176922 T intergenic_variant MODIFIER - - - - - - - - - - - - - - rs200346332 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42176938-42176938 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs61847770 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42177015-42177015 A intergenic_variant MODIFIER - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42177045-42177045 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs112996004 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42185260-42185260 C upstream_gene_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene - - - - - - - - - rs9971200 79 1 - HGNC HGNC:44978 - - - - - Ensembl - A A - - - 0.0262 - - - - - - - - - . 10:42185274-42185274 G upstream_gene_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene - - - - - - - - - rs4345917 65 1 - HGNC HGNC:44978 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42185320-42185320 C upstream_gene_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene - - - - - - - - - rs4506596 19 1 - HGNC HGNC:44978 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42185321-42185321 A upstream_gene_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene - - - - - - - - - rs1209941345 18 1 - HGNC HGNC:44978 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42185464-42185464 C intron_variant,non_coding_transcript_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene - 1/1 - - - - - - - rs879108560 - 1 - HGNC HGNC:44978 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42185485-42185485 T splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene - 1/1 - - - - - - - - - 1 - HGNC HGNC:44978 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42185554-42185554 G non_coding_transcript_exon_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene 2/2 - - - 92 - - - - rs1201677266 - 1 - HGNC HGNC:44978 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42185709-42185709 G non_coding_transcript_exon_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene 2/2 - - - 247 - - - - - - 1 - HGNC HGNC:44978 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42185757-42185757 G non_coding_transcript_exon_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene 2/2 - - - 295 - - - - rs1554788829 - 1 - HGNC HGNC:44978 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42185785-42185785 A non_coding_transcript_exon_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene 2/2 - - - 323 - - - - - - 1 - HGNC HGNC:44978 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42185787-42185787 C non_coding_transcript_exon_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene 2/2 - - - 325 - - - - rs7921235 - 1 - HGNC HGNC:44978 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42185797-42185797 C downstream_gene_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene - - - - - - - - - - 6 1 - HGNC HGNC:44978 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42185855-42185855 G downstream_gene_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene - - - - - - - - - rs9702775 64 1 - HGNC HGNC:44978 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42185861-42185861 C downstream_gene_variant MODIFIER IGKV1OR10-1 ENSG00000237592 Transcript ENST00000442306.2 IG_V_pseudogene - - - - - - - - - rs7921369 70 1 - HGNC HGNC:44978 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42192498-42192498 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000259150 CTCF_binding_site - - - - - - - - - rs7897121 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192498-42192498 C intergenic_variant MODIFIER - - - - - - - - - - - - - - rs7897121 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192594-42192594 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000259150 CTCF_binding_site - - - - - - - - - rs4625409 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192594-42192594 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401672 TF_binding_site - - - - - - - - - rs4625409 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192594-42192594 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs4625409 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192640-42192640 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000259150 CTCF_binding_site - - - - - - - - - rs1220080450 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192640-42192640 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401672 TF_binding_site - - - - - - - - - rs1220080450 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192640-42192640 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00000126933 - - - - - - - - - - rs1220080450 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0042 3 Y -0.094 CTCF . 10:42192640-42192640 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1220080450 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192669-42192669 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000259150 CTCF_binding_site - - - - - - - - - rs1392318648 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192669-42192669 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401672 TF_binding_site - - - - - - - - - rs1392318648 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192669-42192669 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1392318648 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192710-42192710 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000259150 CTCF_binding_site - - - - - - - - - rs1280785452 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192710-42192710 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401672 TF_binding_site - - - - - - - - - rs1280785452 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42192710-42192710 G intergenic_variant MODIFIER - - - - - - - - - - - - - - rs1280785452 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:42209988-42209988 T upstream_gene_variant MODIFIER - ENSG00000271650 Transcript ENST00000605702.1 processed_pseudogene - - - - - - - - - rs61853417 2 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42210034-42210034 T non_coding_transcript_exon_variant MODIFIER - ENSG00000271650 Transcript ENST00000605702.1 processed_pseudogene 1/1 - - - 45 - - - - rs113312418 - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42210150-42210150 A non_coding_transcript_exon_variant MODIFIER - ENSG00000271650 Transcript ENST00000605702.1 processed_pseudogene 1/1 - - - 161 - - - - rs61853420 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42210151-42210151 T non_coding_transcript_exon_variant MODIFIER - ENSG00000271650 Transcript ENST00000605702.1 processed_pseudogene 1/1 - - - 162 - - - - - - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42210207-42210207 C non_coding_transcript_exon_variant MODIFIER - ENSG00000271650 Transcript ENST00000605702.1 processed_pseudogene 1/1 - - - 218 - - - - rs7096696 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42210210-42210210 C non_coding_transcript_exon_variant MODIFIER - ENSG00000271650 Transcript ENST00000605702.1 processed_pseudogene 1/1 - - - 221 - - - - rs1367885757 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42250900-42250900 T upstream_gene_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene - - - - - - - - - rs1409620110 85 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42250900-42250900 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - 1/2 - - - - - - - rs1409620110 - 1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42250900-42250900 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - - - - - - - - - rs1409620110 3172 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42250900-42250900 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - 1/2 - - - - - - - rs1409620110 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42250900-42250900 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - 1/2 - - - - - - - rs1409620110 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42250900-42250900 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA - 1/2 - - - - - - - rs1409620110 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42250992-42250992 C non_coding_transcript_exon_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene 1/2 - - - 8 - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42250992-42250992 C non_coding_transcript_exon_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA 2/3 - - - 59 - - - - - - 1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42250992-42250992 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - - - - - - - - - - 3080 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42250992-42250992 C non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA 2/3 - - - 264 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42250992-42250992 C non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA 2/3 - - - 267 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42250992-42250992 C non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA 2/3 - - - 268 - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42251011-42251011 C non_coding_transcript_exon_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene 1/2 - - - 27 - - - - rs77435759 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42251011-42251011 C non_coding_transcript_exon_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA 2/3 - - - 78 - - - - rs77435759 - 1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42251011-42251011 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - - - - - - - - - rs77435759 3061 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42251011-42251011 C non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA 2/3 - - - 283 - - - - rs77435759 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42251011-42251011 C non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA 2/3 - - - 286 - - - - rs77435759 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42251011-42251011 C non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA 2/3 - - - 287 - - - - rs77435759 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42251078-42251078 C non_coding_transcript_exon_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene 1/2 - - - 94 - - - - rs199882165 - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42251078-42251078 C non_coding_transcript_exon_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA 2/3 - - - 145 - - - - rs199882165 - 1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42251078-42251078 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - - - - - - - - - rs199882165 2994 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42251078-42251078 C non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA 2/3 - - - 350 - - - - rs199882165 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42251078-42251078 C non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA 2/3 - - - 353 - - - - rs199882165 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42251078-42251078 C non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA 2/3 - - - 354 - - - - rs199882165 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42251118-42251118 C non_coding_transcript_exon_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene 1/2 - - - 134 - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42251118-42251118 C non_coding_transcript_exon_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA 2/3 - - - 185 - - - - - - 1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42251118-42251118 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - - - - - - - - - - 2954 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42251118-42251118 C non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA 2/3 - - - 390 - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42251118-42251118 C non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA 2/3 - - - 393 - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42251118-42251118 C non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA 2/3 - - - 394 - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42251210-42251210 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene - 1/1 - - - - - - - rs1254494006 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42251210-42251210 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - 2/2 - - - - - - - rs1254494006 - 1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42251210-42251210 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - - - - - - - - - rs1254494006 2862 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42251210-42251210 T splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - 2/2 - - - - - - - rs1254494006 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42251210-42251210 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - 2/2 - - - - - - - rs1254494006 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42251210-42251210 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA - 2/2 - - - - - - - rs1254494006 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42251248-42251248 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene - 1/1 - - - - - - - - - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42251248-42251248 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - 2/2 - - - - - - - - - 1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42251248-42251248 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - - - - - - - - - - 2824 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42251248-42251248 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - 2/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42251248-42251248 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - 2/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42251248-42251248 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA - 2/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42271835-42271835 G non_coding_transcript_exon_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene 2/2 - - - 215 - - - - rs878973878 - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42271835-42271835 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - 2/2 - - - - - - - rs878973878 - 1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42271835-42271835 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 3/4 - - - - - - - rs878973878 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42271835-42271835 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - 2/2 - - - - - - - rs878973878 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42271835-42271835 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - 2/2 - - - - - - - rs878973878 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42271835-42271835 G non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA 3/3 - - - 475 - - - - rs878973878 - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42271848-42271848 T non_coding_transcript_exon_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene 2/2 - - - 228 - - - - rs1329440435 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42271848-42271848 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - 2/2 - - - - - - - rs1329440435 - 1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42271848-42271848 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 3/4 - - - - - - - rs1329440435 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42271848-42271848 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - 2/2 - - - - - - - rs1329440435 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42271848-42271848 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - 2/2 - - - - - - - rs1329440435 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42271848-42271848 T non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA 3/3 - - - 488 - - - - rs1329440435 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42271904-42271904 G downstream_gene_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene - - - - - - - - - rs61853464 2 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42271904-42271904 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - 2/2 - - - - - - - rs61853464 - 1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42271904-42271904 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 3/4 - - - - - - - rs61853464 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42271904-42271904 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - 2/2 - - - - - - - rs61853464 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42271904-42271904 G intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - 2/2 - - - - - - - rs61853464 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42271904-42271904 G non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA 3/3 - - - 544 - - - - rs61853464 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42271921-42271921 T downstream_gene_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene - - - - - - - - - rs200754931 19 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42271921-42271921 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - 2/2 - - - - - - - rs200754931 - 1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42271921-42271921 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 3/4 - - - - - - - rs200754931 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42271921-42271921 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - 2/2 - - - - - - - rs200754931 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42271921-42271921 T intron_variant,non_coding_transcript_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - 2/2 - - - - - - - rs200754931 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42271921-42271921 T non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA 3/3 - - - 561 - - - - rs200754931 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42276600-42276600 C downstream_gene_variant MODIFIER PABPC1P8 ENSG00000228755 Transcript ENST00000452851.1 processed_pseudogene - - - - - - - - - rs77836618 3134 -1 - HGNC HGNC:37988 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42276600-42276600 C downstream_gene_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene - - - - - - - - - rs77836618 4698 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42276600-42276600 C splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - 2/2 - - - - - - - rs77836618 - 1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42276600-42276600 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 2/4 - - - - - - - rs77836618 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42276600-42276600 C splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - 2/2 - - - - - - - rs77836618 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42276600-42276600 C splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - 2/2 - - - - - - - rs77836618 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42276600-42276600 C downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA - - - - - - - - - rs77836618 4632 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42276619-42276619 T downstream_gene_variant MODIFIER PABPC1P8 ENSG00000228755 Transcript ENST00000452851.1 processed_pseudogene - - - - - - - - - - 3115 -1 - HGNC HGNC:37988 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42276619-42276619 T downstream_gene_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene - - - - - - - - - - 4717 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42276619-42276619 T non_coding_transcript_exon_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA 3/3 - - - 234 - - - - - - 1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42276619-42276619 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 2/4 - - - - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42276619-42276619 T non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA 3/3 - - - 486 - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42276619-42276619 T non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA 3/3 - - - 442 - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42276619-42276619 T downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA - - - - - - - - - - 4651 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42276713-42276713 T downstream_gene_variant MODIFIER PABPC1P8 ENSG00000228755 Transcript ENST00000452851.1 processed_pseudogene - - - - - - - - - rs12412601 3021 -1 - HGNC HGNC:37988 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42276713-42276713 T downstream_gene_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene - - - - - - - - - rs12412601 4811 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42276713-42276713 T non_coding_transcript_exon_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA 3/3 - - - 328 - - - - rs12412601 - 1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42276713-42276713 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 2/4 - - - - - - - rs12412601 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42276713-42276713 T non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA 3/3 - - - 580 - - - - rs12412601 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42276713-42276713 T non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA 3/3 - - - 536 - - - - rs12412601 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42276713-42276713 T downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA - - - - - - - - - rs12412601 4745 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42276718-42276718 G downstream_gene_variant MODIFIER PABPC1P8 ENSG00000228755 Transcript ENST00000452851.1 processed_pseudogene - - - - - - - - - - 3016 -1 - HGNC HGNC:37988 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42276718-42276718 G downstream_gene_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene - - - - - - - - - - 4816 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42276718-42276718 G non_coding_transcript_exon_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA 3/3 - - - 333 - - - - - - 1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42276718-42276718 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 2/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42276718-42276718 G non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA 3/3 - - - 585 - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42276718-42276718 G non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA 3/3 - - - 541 - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42276718-42276718 G downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA - - - - - - - - - - 4750 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42276789-42276789 T downstream_gene_variant MODIFIER PABPC1P8 ENSG00000228755 Transcript ENST00000452851.1 processed_pseudogene - - - - - - - - - rs1280251481 2945 -1 - HGNC HGNC:37988 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42276789-42276789 T downstream_gene_variant MODIFIER - ENSG00000274167 Transcript ENST00000622650.1 transcribed_unprocessed_pseudogene - - - - - - - - - rs1280251481 4887 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42276789-42276789 T non_coding_transcript_exon_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA 3/3 - - - 404 - - - - rs1280251481 - 1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42276789-42276789 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 2/4 - - - - - - - rs1280251481 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42276789-42276789 T non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA 3/3 - - - 656 - - - - rs1280251481 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42276789-42276789 T non_coding_transcript_exon_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA 3/3 - - - 612 - - - - rs1280251481 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42276789-42276789 T downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747436.2 lncRNA - - - - - - - - - rs1280251481 4821 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42279792-42279792 G non_coding_transcript_exon_variant MODIFIER PABPC1P8 ENSG00000228755 Transcript ENST00000452851.1 processed_pseudogene 1/1 - - - 2028 - - - - rs11595041 - -1 - HGNC HGNC:37988 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42279792-42279792 G downstream_gene_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - - - - - - - - - rs11595041 2950 1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42279792-42279792 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 2/4 - - - - - - - rs11595041 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42279792-42279792 G downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - - - - - - - - - rs11595041 2963 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42279792-42279792 G downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - - - - - - - - - rs11595041 2950 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42279881-42279881 G non_coding_transcript_exon_variant MODIFIER PABPC1P8 ENSG00000228755 Transcript ENST00000452851.1 processed_pseudogene 1/1 - - - 1939 - - - - - - -1 - HGNC HGNC:37988 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42279881-42279881 G downstream_gene_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - - - - - - - - - - 3039 1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42279881-42279881 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 2/4 - - - - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42279881-42279881 G downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - - - - - - - - - - 3052 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42279881-42279881 G downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - - - - - - - - - - 3039 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42279889-42279889 T non_coding_transcript_exon_variant MODIFIER PABPC1P8 ENSG00000228755 Transcript ENST00000452851.1 processed_pseudogene 1/1 - - - 1931 - - - - - - -1 - HGNC HGNC:37988 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42279889-42279889 T downstream_gene_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - - - - - - - - - - 3047 1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42279889-42279889 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 2/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42279889-42279889 T downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - - - - - - - - - - 3060 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42279889-42279889 T downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - - - - - - - - - - 3047 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42279891-42279891 A non_coding_transcript_exon_variant MODIFIER PABPC1P8 ENSG00000228755 Transcript ENST00000452851.1 processed_pseudogene 1/1 - - - 1929 - - - - rs952618220 - -1 - HGNC HGNC:37988 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42279891-42279891 A downstream_gene_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - - - - - - - - - rs952618220 3049 1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42279891-42279891 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 2/4 - - - - - - - rs952618220 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42279891-42279891 A downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - - - - - - - - - rs952618220 3062 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42279891-42279891 A downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - - - - - - - - - rs952618220 3049 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42279904-42279904 G non_coding_transcript_exon_variant MODIFIER PABPC1P8 ENSG00000228755 Transcript ENST00000452851.1 processed_pseudogene 1/1 - - - 1916 - - - - rs199884009 - -1 - HGNC HGNC:37988 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42279904-42279904 G downstream_gene_variant MODIFIER - ENSG00000290458 Transcript ENST00000622823.4 lncRNA - - - - - - - - - rs199884009 3062 1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42279904-42279904 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 2/4 - - - - - - - rs199884009 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42279904-42279904 G downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747433.2 lncRNA - - - - - - - - - rs199884009 3075 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42279904-42279904 G downstream_gene_variant MODIFIER LOC101929373 101929373 Transcript XR_001747434.2 lncRNA - - - - - - - - - rs199884009 3062 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42335770-42335770 G downstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - - 331 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42335770-42335770 G downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 2013 -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42335770-42335770 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2686 - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42335770-42335770 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2910 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42335770-42335770 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42335770-42335770 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2757 - - - - - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42335803-42335803 C downstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - - 298 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42335803-42335803 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 1980 -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42335803-42335803 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2653 - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42335803-42335803 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2877 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42335803-42335803 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42335803-42335803 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2724 - - - - - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42335820-42335820 A downstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - rs375865424 281 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42335820-42335820 A downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs375865424 1963 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42335820-42335820 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2636 - - - - rs375865424 - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42335820-42335820 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2860 - - - - rs375865424 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42335820-42335820 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs375865424 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42335820-42335820 A non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2707 - - - - rs375865424 - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42335893-42335893 C downstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - rs878857175 208 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42335893-42335893 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs878857175 1890 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42335893-42335893 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2563 - - - - rs878857175 - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42335893-42335893 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2787 - - - - rs878857175 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42335893-42335893 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs878857175 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42335893-42335893 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2634 - - - - rs878857175 - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42335907-42335907 C downstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - rs879107696 194 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42335907-42335907 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs879107696 1876 -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42335907-42335907 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2549 - - - - rs879107696 - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42335907-42335907 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2773 - - - - rs879107696 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42335907-42335907 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs879107696 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42335907-42335907 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2620 - - - - rs879107696 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42335958-42335958 G downstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - rs879170861 143 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42335958-42335958 G downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs879170861 1825 -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42335958-42335958 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2498 - - - - rs879170861 - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42335958-42335958 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2722 - - - - rs879170861 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42335958-42335958 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs879170861 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42335958-42335958 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2569 - - - - rs879170861 - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42335990-42335990 G downstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - rs1454489565 111 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42335990-42335990 G downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs1454489565 1793 -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42335990-42335990 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2466 - - - - rs1454489565 - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42335990-42335990 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2690 - - - - rs1454489565 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42335990-42335990 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1454489565 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42335990-42335990 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2537 - - - - rs1454489565 - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42336004-42336004 C downstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - rs879028205 97 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42336004-42336004 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs879028205 1779 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42336004-42336004 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2452 - - - - rs879028205 - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42336004-42336004 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2676 - - - - rs879028205 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42336004-42336004 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs879028205 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42336004-42336004 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2523 - - - - rs879028205 - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42336064-42336064 G downstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - rs377007240 37 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42336064-42336064 G downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs377007240 1719 -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42336064-42336064 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2392 - - - - rs377007240 - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42336064-42336064 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2616 - - - - rs377007240 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42336064-42336064 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs377007240 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42336064-42336064 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2463 - - - - rs377007240 - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42336095-42336095 A downstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - rs368845269 6 -1 - - - - - - - - Ensembl - G G - - - 0.0004 - - - - - - - - - . 10:42336095-42336095 A downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs368845269 1688 -1 - - - - - 3 - - Ensembl - G G - - - 0.0004 - - - - - - - - - . 10:42336095-42336095 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2361 - - - - rs368845269 - -1 - - - - - 4 - - Ensembl - G G - - - 0.0004 - - - - - - - - - . 10:42336095-42336095 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2585 - - - - rs368845269 - -1 - - - - - - - - Ensembl - G G - - - 0.0004 - - - - - - - - - . 10:42336095-42336095 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs368845269 - -1 - - - - - - - - Ensembl - G G - - - 0.0004 - - - - - - - - - . 10:42336095-42336095 A non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2432 - - - - rs368845269 - -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.0004 - - - - - - - - - . 10:42336150-42336150 A non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 2164 - - - - rs200526200 - -1 - - - - - - - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:42336150-42336150 A downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs200526200 1633 -1 - - - - - 3 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:42336150-42336150 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2306 - - - - rs200526200 - -1 - - - - - 4 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:42336150-42336150 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2530 - - - - rs200526200 - -1 - - - - - - - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:42336150-42336150 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs200526200 - -1 - - - - - - - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:42336150-42336150 A non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2377 - - - - rs200526200 - -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:42336178-42336178 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 2136 - - - - rs532973505 - -1 - - - - - - - - Ensembl - T T - - - 0.0002 - - - - - - - - - . 10:42336178-42336178 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs532973505 1605 -1 - - - - - 3 - - Ensembl - T T - - - 0.0002 - - - - - - - - - . 10:42336178-42336178 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2278 - - - - rs532973505 - -1 - - - - - 4 - - Ensembl - T T - - - 0.0002 - - - - - - - - - . 10:42336178-42336178 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2502 - - - - rs532973505 - -1 - - - - - - - - Ensembl - T T - - - 0.0002 - - - - - - - - - . 10:42336178-42336178 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs532973505 - -1 - - - - - - - - Ensembl - T T - - - 0.0002 - - - - - - - - - . 10:42336178-42336178 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2349 - - - - rs532973505 - -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:42336195-42336195 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 2119 - - - - rs12264479 - -1 - - - - - - - - Ensembl - C C - - - 0.2079 - - - - - - - - - . 10:42336195-42336195 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs12264479 1588 -1 - - - - - 3 - - Ensembl - C C - - - 0.2079 - - - - - - - - - . 10:42336195-42336195 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2261 - - - - rs12264479 - -1 - - - - - 4 - - Ensembl - C C - - - 0.2079 - - - - - - - - - . 10:42336195-42336195 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2485 - - - - rs12264479 - -1 - - - - - - - - Ensembl - C C - - - 0.2079 - - - - - - - - - . 10:42336195-42336195 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs12264479 - -1 - - - - - - - - Ensembl - C C - - - 0.2079 - - - - - - - - - . 10:42336195-42336195 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2332 - - - - rs12264479 - -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.2079 - - - - - - - - - . 10:42336236-42336236 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 2078 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42336236-42336236 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 1547 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42336236-42336236 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2220 - - - - - - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42336236-42336236 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2444 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42336236-42336236 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42336236-42336236 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2291 - - - - - - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42336306-42336306 A non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 2008 - - - - rs1269251471 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42336306-42336306 A downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs1269251471 1477 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42336306-42336306 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2150 - - - - rs1269251471 - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42336306-42336306 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2374 - - - - rs1269251471 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42336306-42336306 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1269251471 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42336306-42336306 A non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2221 - - - - rs1269251471 - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42336330-42336330 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1984 - - - - rs1449510251 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42336330-42336330 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs1449510251 1453 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42336330-42336330 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2126 - - - - rs1449510251 - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42336330-42336330 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2350 - - - - rs1449510251 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42336330-42336330 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1449510251 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42336330-42336330 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2197 - - - - rs1449510251 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42336356-42336356 G non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1958 - - - - rs12268972 - -1 - - - - - - - - Ensembl - A A - - - 0.2077 - - - - - - - - - . 10:42336356-42336356 G downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs12268972 1427 -1 - - - - - 3 - - Ensembl - A A - - - 0.2077 - - - - - - - - - . 10:42336356-42336356 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2100 - - - - rs12268972 - -1 - - - - - 4 - - Ensembl - A A - - - 0.2077 - - - - - - - - - . 10:42336356-42336356 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2324 - - - - rs12268972 - -1 - - - - - - - - Ensembl - A A - - - 0.2077 - - - - - - - - - . 10:42336356-42336356 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs12268972 - -1 - - - - - - - - Ensembl - A A - - - 0.2077 - - - - - - - - - . 10:42336356-42336356 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2171 - - - - rs12268972 - -1 - EntrezGene - - - - - - RefSeq - A A - - - 0.2077 - - - - - - - - - . 10:42336365-42336365 G non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1949 - - - - rs878953809 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42336365-42336365 G downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs878953809 1418 -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42336365-42336365 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 2091 - - - - rs878953809 - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42336365-42336365 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2315 - - - - rs878953809 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42336365-42336365 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs878953809 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42336365-42336365 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 2162 - - - - rs878953809 - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42336644-42336644 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1670 - - - - rs879207574 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42336644-42336644 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs879207574 1139 -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42336644-42336644 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1812 - - - - rs879207574 - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42336644-42336644 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 2036 - - - - rs879207574 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42336644-42336644 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs879207574 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42336644-42336644 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1883 - - - - rs879207574 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42336699-42336699 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1615 - - - - rs199821318 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42336699-42336699 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs199821318 1084 -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42336699-42336699 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1757 - - - - rs199821318 - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42336699-42336699 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1981 - - - - rs199821318 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42336699-42336699 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs199821318 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42336699-42336699 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1828 - - - - rs199821318 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42336846-42336846 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1468 - - - - rs76173391 - -1 - - - - - - - - Ensembl - T T - - - 0.2077 - - - - - - - - - . 10:42336846-42336846 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs76173391 937 -1 - - - - - 3 - - Ensembl - T T - - - 0.2077 - - - - - - - - - . 10:42336846-42336846 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1610 - - - - rs76173391 - -1 - - - - - 4 - - Ensembl - T T - - - 0.2077 - - - - - - - - - . 10:42336846-42336846 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1834 - - - - rs76173391 - -1 - - - - - - - - Ensembl - T T - - - 0.2077 - - - - - - - - - . 10:42336846-42336846 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs76173391 - -1 - - - - - - - - Ensembl - T T - - - 0.2077 - - - - - - - - - . 10:42336846-42336846 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1681 - - - - rs76173391 - -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.2077 - - - - - - - - - . 10:42336879-42336879 G non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1435 - - - - rs369161302 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42336879-42336879 G downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs369161302 904 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42336879-42336879 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1577 - - - - rs369161302 - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42336879-42336879 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1801 - - - - rs369161302 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42336879-42336879 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs369161302 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42336879-42336879 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1648 - - - - rs369161302 - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42336905-42336905 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1409 - - - - rs1322556785 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42336905-42336905 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs1322556785 878 -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42336905-42336905 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1551 - - - - rs1322556785 - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42336905-42336905 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1775 - - - - rs1322556785 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42336905-42336905 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1322556785 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42336905-42336905 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1622 - - - - rs1322556785 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42337046-42337046 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1268 - - - - rs117321528 - -1 - - - - - - - - Ensembl - C C - - - 0.0182 - - - - - - - - - . 10:42337046-42337046 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs117321528 737 -1 - - - - - 3 - - Ensembl - C C - - - 0.0182 - - - - - - - - - . 10:42337046-42337046 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1410 - - - - rs117321528 - -1 - - - - - 4 - - Ensembl - C C - - - 0.0182 - - - - - - - - - . 10:42337046-42337046 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1634 - - - - rs117321528 - -1 - - - - - - - - Ensembl - C C - - - 0.0182 - - - - - - - - - . 10:42337046-42337046 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs117321528 - -1 - - - - - - - - Ensembl - C C - - - 0.0182 - - - - - - - - - . 10:42337046-42337046 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1481 - - - - rs117321528 - -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.0182 - - - - - - - - - . 10:42337051-42337051 G non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1263 - - - - rs368323025 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337051-42337051 G downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs368323025 732 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337051-42337051 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1405 - - - - rs368323025 - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337051-42337051 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1629 - - - - rs368323025 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337051-42337051 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs368323025 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337051-42337051 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1476 - - - - rs368323025 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42337074-42337074 A non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1240 - - - - rs113207552 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337074-42337074 A downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs113207552 709 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337074-42337074 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1382 - - - - rs113207552 - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337074-42337074 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1606 - - - - rs113207552 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337074-42337074 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs113207552 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337074-42337074 A non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1453 - - - - rs113207552 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42337178-42337178 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1136 - - - - rs1466011811 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337178-42337178 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs1466011811 605 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337178-42337178 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1278 - - - - rs1466011811 - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337178-42337178 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1502 - - - - rs1466011811 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337178-42337178 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1466011811 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337178-42337178 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1349 - - - - rs1466011811 - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42337187-42337187 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1127 - - - - rs1165214492 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337187-42337187 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs1165214492 596 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337187-42337187 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1269 - - - - rs1165214492 - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337187-42337187 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1493 - - - - rs1165214492 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337187-42337187 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1165214492 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337187-42337187 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1340 - - - - rs1165214492 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42337188-42337188 A non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1126 - - - - rs539770626 - -1 - - - - - - - - Ensembl - G G - - - 0.0002 - - - - - - - - - . 10:42337188-42337188 A downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs539770626 595 -1 - - - - - 3 - - Ensembl - G G - - - 0.0002 - - - - - - - - - . 10:42337188-42337188 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1268 - - - - rs539770626 - -1 - - - - - 4 - - Ensembl - G G - - - 0.0002 - - - - - - - - - . 10:42337188-42337188 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1492 - - - - rs539770626 - -1 - - - - - - - - Ensembl - G G - - - 0.0002 - - - - - - - - - . 10:42337188-42337188 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs539770626 - -1 - - - - - - - - Ensembl - G G - - - 0.0002 - - - - - - - - - . 10:42337188-42337188 A non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1339 - - - - rs539770626 - -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:42337198-42337198 A non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1116 - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42337198-42337198 A downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 585 -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42337198-42337198 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1258 - - - - - - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42337198-42337198 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1482 - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42337198-42337198 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42337198-42337198 A non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1329 - - - - - - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42337211-42337211 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1103 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337211-42337211 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 572 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337211-42337211 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1245 - - - - - - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337211-42337211 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1469 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337211-42337211 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337211-42337211 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1316 - - - - - - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42337217-42337217 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1097 - - - - rs1190156455 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337217-42337217 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs1190156455 566 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337217-42337217 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1239 - - - - rs1190156455 - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337217-42337217 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1463 - - - - rs1190156455 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337217-42337217 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1190156455 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337217-42337217 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1310 - - - - rs1190156455 - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42337278-42337278 G non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1036 - - - - rs1208830854 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337278-42337278 G downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs1208830854 505 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337278-42337278 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1178 - - - - rs1208830854 - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337278-42337278 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1402 - - - - rs1208830854 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337278-42337278 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1208830854 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337278-42337278 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1249 - - - - rs1208830854 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42337303-42337303 A non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 1011 - - - - rs1331996864 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337303-42337303 A downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs1331996864 480 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337303-42337303 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1153 - - - - rs1331996864 - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337303-42337303 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1377 - - - - rs1331996864 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337303-42337303 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1331996864 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337303-42337303 A non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1224 - - - - rs1331996864 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42337327-42337327 G non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 987 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42337327-42337327 G downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 456 -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42337327-42337327 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1129 - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42337327-42337327 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1353 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42337327-42337327 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42337327-42337327 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1200 - - - - - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42337357-42337357 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 957 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337357-42337357 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 426 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337357-42337357 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1099 - - - - - - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337357-42337357 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1323 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337357-42337357 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337357-42337357 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1170 - - - - - - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42337414-42337414 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 900 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337414-42337414 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 369 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337414-42337414 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1042 - - - - - - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337414-42337414 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1266 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337414-42337414 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337414-42337414 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1113 - - - - - - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42337441-42337441 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 873 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337441-42337441 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 342 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337441-42337441 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 1015 - - - - - - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337441-42337441 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1239 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337441-42337441 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337441-42337441 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1086 - - - - - - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42337498-42337498 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 816 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42337498-42337498 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 285 -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42337498-42337498 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 958 - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42337498-42337498 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1182 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42337498-42337498 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42337498-42337498 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 1029 - - - - - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42337561-42337561 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 753 - - - - rs566427425 - -1 - - - - - - - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:42337561-42337561 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs566427425 222 -1 - - - - - 3 - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:42337561-42337561 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 895 - - - - rs566427425 - -1 - - - - - 4 - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:42337561-42337561 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1119 - - - - rs566427425 - -1 - - - - - - - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:42337561-42337561 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs566427425 - -1 - - - - - - - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:42337561-42337561 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 966 - - - - rs566427425 - -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.0002 - - - - - - - - - . 10:42337563-42337563 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 751 - - - - rs1239635353 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337563-42337563 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs1239635353 220 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337563-42337563 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 893 - - - - rs1239635353 - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337563-42337563 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1117 - - - - rs1239635353 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337563-42337563 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1239635353 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337563-42337563 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 964 - - - - rs1239635353 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42337602-42337602 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 712 - - - - rs779007517 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42337602-42337602 T downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs779007517 181 -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42337602-42337602 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 854 - - - - rs779007517 - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42337602-42337602 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1078 - - - - rs779007517 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42337602-42337602 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs779007517 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42337602-42337602 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 925 - - - - rs779007517 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42337655-42337655 G non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 659 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337655-42337655 G downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 128 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337655-42337655 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 801 - - - - - - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337655-42337655 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1025 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337655-42337655 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337655-42337655 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 872 - - - - - - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42337656-42337656 A non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 658 - - - - rs12262497 - -1 - - - - - - - - Ensembl - G G - - - 0.2077 - - - - - - - - - . 10:42337656-42337656 A downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs12262497 127 -1 - - - - - 3 - - Ensembl - G G - - - 0.2077 - - - - - - - - - . 10:42337656-42337656 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 800 - - - - rs12262497 - -1 - - - - - 4 - - Ensembl - G G - - - 0.2077 - - - - - - - - - . 10:42337656-42337656 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 1024 - - - - rs12262497 - -1 - - - - - - - - Ensembl - G G - - - 0.2077 - - - - - - - - - . 10:42337656-42337656 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs12262497 - -1 - - - - - - - - Ensembl - G G - - - 0.2077 - - - - - - - - - . 10:42337656-42337656 A non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 871 - - - - rs12262497 - -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.2077 - - - - - - - - - . 10:42337684-42337687 - non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 627-629 - - - - rs58396160 - -1 - - - - - - - - Ensembl - ATT ATT - - - 0.5325 - - - - - - - - - . 10:42337684-42337687 - downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - rs58396160 96 -1 - - - - - 3 - - Ensembl - ATT ATT - - - 0.5325 - - - - - - - - - . 10:42337684-42337687 - non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 769-771 - - - - rs58396160 - -1 - - - - - 4 - - Ensembl - ATT ATT - - - 0.5325 - - - - - - - - - . 10:42337684-42337687 - non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 993-995 - - - - rs58396160 - -1 - - - - - - - - Ensembl - ATT ATT - - - 0.5325 - - - - - - - - - . 10:42337684-42337687 - intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs58396160 - -1 - - - - - - - - Ensembl - ATT ATT - - - 0.5325 - - - - - - - - - . 10:42337684-42337687 - non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 840-842 - - - - rs58396160 - -1 - EntrezGene - - - - - - RefSeq - ATT ATT - - - 0.5325 - - - - - - - - - . 10:42337707-42337707 G non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 607 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42337707-42337707 G downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 76 -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42337707-42337707 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 749 - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42337707-42337707 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 973 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42337707-42337707 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42337707-42337707 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 820 - - - - - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42337741-42337741 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 573 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337741-42337741 C downstream_gene_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - - - - - - - - - - 42 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337741-42337741 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 715 - - - - - - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337741-42337741 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 939 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337741-42337741 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337741-42337741 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 786 - - - - - - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42337810-42337810 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 504 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337810-42337810 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA 2/2 - - - 549 - - - - - - -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337810-42337810 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 646 - - - - - - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337810-42337810 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 870 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337810-42337810 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337810-42337810 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 717 - - - - - - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42337852-42337852 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 462 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337852-42337852 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA 2/2 - - - 507 - - - - - - -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337852-42337852 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 604 - - - - - - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337852-42337852 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 828 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337852-42337852 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337852-42337852 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 675 - - - - - - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42337861-42337861 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 453 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337861-42337861 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA 2/2 - - - 498 - - - - - - -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337861-42337861 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 595 - - - - - - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42337861-42337861 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 819 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337861-42337861 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42337861-42337861 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 666 - - - - - - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42337862-42337862 A non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 452 - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42337862-42337862 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA 2/2 - - - 497 - - - - - - -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42337862-42337862 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 594 - - - - - - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42337862-42337862 A non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 818 - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42337862-42337862 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42337862-42337862 A non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 665 - - - - - - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42337895-42337895 G non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 419 - - - - rs1346830419 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337895-42337895 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA 2/2 - - - 464 - - - - rs1346830419 - -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337895-42337895 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 561 - - - - rs1346830419 - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42337895-42337895 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 785 - - - - rs1346830419 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337895-42337895 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1346830419 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42337895-42337895 G non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 632 - - - - rs1346830419 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42338007-42338007 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 307 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42338007-42338007 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA 2/2 - - - 352 - - - - - - -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42338007-42338007 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 449 - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42338007-42338007 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 673 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42338007-42338007 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42338007-42338007 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 520 - - - - - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42338054-42338054 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 260 - - - - rs199882831 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42338054-42338054 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA 2/2 - - - 305 - - - - rs199882831 - -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42338054-42338054 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 402 - - - - rs199882831 - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42338054-42338054 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 626 - - - - rs199882831 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42338054-42338054 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs199882831 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42338054-42338054 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 473 - - - - rs199882831 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42338074-42338074 T non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 240 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42338074-42338074 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA 2/2 - - - 285 - - - - - - -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42338074-42338074 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 382 - - - - - - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42338074-42338074 T non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 606 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42338074-42338074 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42338074-42338074 T non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 453 - - - - - - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42338096-42338096 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 218 - - - - rs1390228604 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42338096-42338096 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA 2/2 - - - 263 - - - - rs1390228604 - -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42338096-42338096 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 360 - - - - rs1390228604 - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42338096-42338096 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 584 - - - - rs1390228604 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42338096-42338096 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1390228604 - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42338096-42338096 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 431 - - - - rs1390228604 - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42338172-42338172 C non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 2/2 - - - 142 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42338172-42338172 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA 2/2 - - - 187 - - - - - - -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42338172-42338172 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA 3/3 - - - 284 - - - - - - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42338172-42338172 C non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 6/6 - - - 508 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42338172-42338172 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42338172-42338172 C non_coding_transcript_exon_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene 3/3 - - - 355 - - - - - - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42338269-42338269 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - 1/1 - - - - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42338269-42338269 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42338269-42338269 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 2/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42338269-42338269 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 5/5 - - - - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42338269-42338269 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42338269-42338269 C intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 2/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42338281-42338281 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - 1/1 - - - - - - - rs1333300905 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42338281-42338281 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - rs1333300905 - -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42338281-42338281 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 2/2 - - - - - - - rs1333300905 - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42338281-42338281 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 5/5 - - - - - - - rs1333300905 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42338281-42338281 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs1333300905 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42338281-42338281 A intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 2/2 - - - - - - - rs1333300905 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42338369-42338369 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - 1/1 - - - - - - - rs968130204 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42338369-42338369 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - rs968130204 - -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42338369-42338369 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 2/2 - - - - - - - rs968130204 - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42338369-42338369 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 5/5 - - - - - - - rs968130204 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42338369-42338369 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs968130204 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42338369-42338369 T intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 2/2 - - - - - - - rs968130204 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42352829-42352829 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - 1/1 - - - - - - - rs924525971 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42352829-42352829 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - rs924525971 - -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42352829-42352829 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609502.1 lncRNA 3/3 - - - 527 - - - - rs924525971 - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42352829-42352829 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 1/2 - - - - - - - rs924525971 - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42352829-42352829 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 3/5 - - - - - - - rs924525971 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42352829-42352829 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - rs924525971 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42352829-42352829 G intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 1/2 - - - - - - - rs924525971 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42352841-42352841 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - 1/1 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42352841-42352841 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42352841-42352841 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609502.1 lncRNA 3/3 - - - 515 - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42352841-42352841 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42352841-42352841 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 3/5 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42352841-42352841 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42352841-42352841 G intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42352943-42352943 G non_coding_transcript_exon_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene 1/2 - - - 69 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42352943-42352943 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42352943-42352943 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000609502.1 lncRNA 3/3 - - - 413 - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42352943-42352943 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42352943-42352943 G non_coding_transcript_exon_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA 3/6 - - - 296 - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42352943-42352943 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42352943-42352943 G intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42353014-42353014 C upstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - - 3 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42353014-42353014 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42353014-42353014 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609502.1 lncRNA - 2/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42353014-42353014 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42353014-42353014 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 2/5 - - - - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42353014-42353014 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42353014-42353014 C intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42353037-42353037 T upstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - - 26 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42353037-42353037 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42353037-42353037 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609502.1 lncRNA - 2/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42353037-42353037 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42353037-42353037 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 2/5 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42353037-42353037 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42353037-42353037 T intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42353103-42353103 T upstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - - 92 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42353103-42353103 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42353103-42353103 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609502.1 lncRNA - 2/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42353103-42353103 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42353103-42353103 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 2/5 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42353103-42353103 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42353103-42353103 T intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42353113-42353113 G upstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - - 102 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42353113-42353113 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42353113-42353113 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609502.1 lncRNA - 2/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42353113-42353113 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42353113-42353113 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 2/5 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42353113-42353113 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42353113-42353113 G intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42353131-42353131 C upstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - - 120 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42353131-42353131 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42353131-42353131 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609502.1 lncRNA - 2/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42353131-42353131 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:42353131-42353131 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 2/5 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42353131-42353131 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42353131-42353131 C intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42355289-42355289 C upstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - - 2278 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42355289-42355289 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:42355289-42355289 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609502.1 lncRNA - 2/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42355289-42355289 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:42355289-42355289 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 2/5 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42355289-42355289 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:42355289-42355289 C intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42355332-42355332 G upstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - - 2321 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42355332-42355332 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:42355332-42355332 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609502.1 lncRNA - 2/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42355332-42355332 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:42355332-42355332 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 2/5 - - - - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42355332-42355332 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:42355332-42355332 G intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42355352-42355352 A upstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - - 2341 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42355352-42355352 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42355352-42355352 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609502.1 lncRNA - 2/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42355352-42355352 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42355352-42355352 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 2/5 - - - - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42355352-42355352 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42355352-42355352 A intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42355371-42355371 C upstream_gene_variant MODIFIER - ENSG00000215146 Transcript ENST00000423987.2 transcribed_unprocessed_pseudogene - - - - - - - - - - 2360 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42355371-42355371 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609034.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:42355371-42355371 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609502.1 lncRNA - 2/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42355371-42355371 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000609841.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:42355371-42355371 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000650175.1 lncRNA - 2/5 - - - - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42355371-42355371 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000291065 Transcript ENST00000701816.1 lncRNA - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42355371-42355371 C intron_variant,non_coding_transcript_variant MODIFIER LOC441666 441666 Transcript NR_024380.1 transcribed_pseudogene - 1/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42410062-42410062 C non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000182632 Transcript ENST00000472090.6 transcribed_unprocessed_pseudogene 10/10 - - - 1105 - - - - rs2419684 - -1 - HGNC HGNC:23495 - - - - - Ensembl - A A - - - 0.9235 - - - - - - - - - . 10:42410062-42410062 C non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000290445 Transcript ENST00000637719.1 lncRNA 9/9 - - - 1417 - - - - rs2419684 - -1 - EntrezGene HGNC:23495 - - 2 - - Ensembl - A A - - - 0.9235 - - - - - - - - - . 10:42410062-42410062 C non_coding_transcript_exon_variant MODIFIER CCNYL2 414194 Transcript NR_103829.1 transcribed_pseudogene 9/9 - - - 1417 - - - - rs2419684 - -1 - EntrezGene HGNC:23495 - - - - - RefSeq - A A OK - - 0.9235 - - - - - - - - - . 10:42411753-42411753 A non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000182632 Transcript ENST00000472090.6 transcribed_unprocessed_pseudogene 9/10 - - - 919 - - - - rs2505860 - -1 - HGNC HGNC:23495 - - - - - Ensembl - G G - - - 0.3504 - - - - - - - - - . 10:42411753-42411753 A non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000290445 Transcript ENST00000637719.1 lncRNA 8/9 - - - 1231 - - - - rs2505860 - -1 - EntrezGene HGNC:23495 - - 2 - - Ensembl - G G - - - 0.3504 - - - - - - - - - . 10:42411753-42411753 A non_coding_transcript_exon_variant MODIFIER CCNYL2 414194 Transcript NR_103829.1 transcribed_pseudogene 8/9 - - - 1231 - - - - rs2505860 - -1 - EntrezGene HGNC:23495 - - - - - RefSeq - G G OK - - 0.3504 - - - - - - - - - . 10:42411812-42411812 C non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000182632 Transcript ENST00000472090.6 transcribed_unprocessed_pseudogene 9/10 - - - 860 - - - - rs2505861 - -1 - HGNC HGNC:23495 - - - - - Ensembl - T T - - - 0.3708 - - - - - - - - - . 10:42411812-42411812 C non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000290445 Transcript ENST00000637719.1 lncRNA 8/9 - - - 1172 - - - - rs2505861 - -1 - EntrezGene HGNC:23495 - - 2 - - Ensembl - T T - - - 0.3708 - - - - - - - - - . 10:42411812-42411812 C non_coding_transcript_exon_variant MODIFIER CCNYL2 414194 Transcript NR_103829.1 transcribed_pseudogene 8/9 - - - 1172 - - - - rs2505861 - -1 - EntrezGene HGNC:23495 - - - - - RefSeq - T T OK - - 0.3708 - - - - - - - - - . 10:42425384-42425384 A non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000182632 Transcript ENST00000472090.6 transcribed_unprocessed_pseudogene 7/10 - - - 577 - - - - rs2505872 - -1 - HGNC HGNC:23495 - - - - - Ensembl - G G - - - 0.3710 - - - - - - - - - . 10:42425384-42425384 A non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000290445 Transcript ENST00000637719.1 lncRNA 6/9 - - - 889 - - - - rs2505872 - -1 - EntrezGene HGNC:23495 - - 2 - - Ensembl - G G - - - 0.3710 - - - - - - - - - . 10:42425384-42425384 A non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000290445 Transcript ENST00000638057.1 lncRNA 8/8 - - - 709 - - - - rs2505872 - -1 - EntrezGene HGNC:23495 - - 3 - - Ensembl - G G - - - 0.3710 - - - - - - - - - . 10:42425384-42425384 A non_coding_transcript_exon_variant MODIFIER CCNYL2 414194 Transcript NR_103829.1 transcribed_pseudogene 6/9 - - - 889 - - - - rs2505872 - -1 - EntrezGene HGNC:23495 - - - - - RefSeq - G G OK - - 0.3710 - - - - - - - - - . 10:42425396-42425396 C non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000182632 Transcript ENST00000472090.6 transcribed_unprocessed_pseudogene 7/10 - - - 565 - - - - rs1398196725 - -1 - HGNC HGNC:23495 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:42425396-42425396 C non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000290445 Transcript ENST00000637719.1 lncRNA 6/9 - - - 877 - - - - rs1398196725 - -1 - EntrezGene HGNC:23495 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:42425396-42425396 C non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000290445 Transcript ENST00000638057.1 lncRNA 8/8 - - - 697 - - - - rs1398196725 - -1 - EntrezGene HGNC:23495 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:42425396-42425396 C non_coding_transcript_exon_variant MODIFIER CCNYL2 414194 Transcript NR_103829.1 transcribed_pseudogene 6/9 - - - 877 - - - - rs1398196725 - -1 - EntrezGene HGNC:23495 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:42461554-42461554 A intron_variant,non_coding_transcript_variant MODIFIER CCNYL2 ENSG00000290445 Transcript ENST00000637719.1 lncRNA - 2/8 - - - - - - - rs2505789 - -1 - EntrezGene HGNC:23495 - - 2 - - Ensembl - G G - - - 0.3666 - - - - - - - - - . 10:42461554-42461554 A intron_variant,non_coding_transcript_variant MODIFIER CCNYL2 ENSG00000290445 Transcript ENST00000638057.1 lncRNA - 3/7 - - - - - - - rs2505789 - -1 - EntrezGene HGNC:23495 - - 3 - - Ensembl - G G - - - 0.3666 - - - - - - - - - . 10:42461554-42461554 A intron_variant,non_coding_transcript_variant MODIFIER CCNYL2 414194 Transcript NR_103829.1 transcribed_pseudogene - 2/8 - - - - - - - rs2505789 - -1 - EntrezGene HGNC:23495 - - - - - RefSeq - G G OK - - 0.3666 - - - - - - - - - . 10:42470188-42470188 T non_coding_transcript_exon_variant MODIFIER - ENSG00000279239 Transcript ENST00000624635.1 transcribed_unprocessed_pseudogene 1/1 - - - 81 - - - - rs1255411 - -1 - - - - - - - - Ensembl - C C - - - 0.6933 - - - - - - - - - . 10:42470188-42470188 T non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000290445 Transcript ENST00000637719.1 lncRNA 2/9 - - - 517 - - - - rs1255411 - -1 - EntrezGene HGNC:23495 - - 2 - - Ensembl - C C - - - 0.6933 - - - - - - - - - . 10:42470188-42470188 T non_coding_transcript_exon_variant MODIFIER CCNYL2 ENSG00000290445 Transcript ENST00000638057.1 lncRNA 3/8 - - - 269 - - - - rs1255411 - -1 - EntrezGene HGNC:23495 - - 3 - - Ensembl - C C - - - 0.6933 - - - - - - - - - . 10:42470188-42470188 T non_coding_transcript_exon_variant MODIFIER CCNYL2 414194 Transcript NR_103829.1 transcribed_pseudogene 2/9 - - - 517 - - - - rs1255411 - -1 - EntrezGene HGNC:23495 - - - - - RefSeq - C C OK - - 0.6933 - - - - - - - - - . 10:42594517-42594517 A missense_variant MODERATE ZNF33B ENSG00000196693 Transcript ENST00000359467.8 protein_coding 5/5 - - - 574 433 145 R/C Cgt/Tgt rs210280,COSV63942707 - -1 - HGNC HGNC:13097 NM_006955.3 - 1 P2 - Ensembl - G G - tolerated(0.7) benign(0) 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A intron_variant MODIFIER ZNF33B ENSG00000196693 Transcript ENST00000462075.1 protein_coding - 1/1 - - - - - - - rs210280,COSV63942707 - -1 cds_start_NF HGNC HGNC:13097 - - 3 - - Ensembl - G G - - - 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A intron_variant MODIFIER ZNF33B ENSG00000196693 Transcript ENST00000465206.5 protein_coding - 3/3 - - - - - - - rs210280,COSV63942707 - -1 cds_start_NF HGNC HGNC:13097 - - 3 - - Ensembl - G G - - - 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A intron_variant,non_coding_transcript_variant MODIFIER ZNF33B ENSG00000196693 Transcript ENST00000486187.5 protein_coding_CDS_not_defined - 5/5 - - - - - - - rs210280,COSV63942707 - -1 - HGNC HGNC:13097 - - 2 - - Ensembl - G G - - - 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A missense_variant MODERATE ZNF33B ENSG00000196693 Transcript ENST00000613419.4 protein_coding 4/4 - - - 433 433 145 R/C Cgt/Tgt rs210280,COSV63942707 - -1 - HGNC HGNC:13097 - - 5 A2 - Ensembl - G G - tolerated(0.69) benign(0) 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A missense_variant MODERATE ZNF33B 7582 Transcript NM_001305033.2 protein_coding 4/4 - - - 521 454 152 R/C Cgt/Tgt rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - tolerated(0.7) benign(0) 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A missense_variant MODERATE ZNF33B 7582 Transcript NM_001305035.2 protein_coding 6/6 - - - 651 97 33 R/C Cgt/Tgt rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - tolerated(0.37) benign(0) 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A missense_variant MODERATE ZNF33B 7582 Transcript NM_001305036.2 protein_coding 5/5 - - - 579 97 33 R/C Cgt/Tgt rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - tolerated(0.37) benign(0) 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A missense_variant MODERATE ZNF33B 7582 Transcript NM_001305037.2 protein_coding 5/5 - - - 506 97 33 R/C Cgt/Tgt rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - tolerated(0.37) benign(0) 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A missense_variant MODERATE ZNF33B 7582 Transcript NM_001305038.2 protein_coding 5/5 - - - 598 97 33 R/C Cgt/Tgt rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - tolerated(0.37) benign(0) 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A missense_variant MODERATE ZNF33B 7582 Transcript NM_001305039.2 protein_coding 6/6 - - - 656 97 33 R/C Cgt/Tgt rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - tolerated(0.37) benign(0) 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A missense_variant MODERATE ZNF33B 7582 Transcript NM_001305040.2 protein_coding 7/7 - - - 732 97 33 R/C Cgt/Tgt rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - tolerated(0.37) benign(0) 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A missense_variant MODERATE ZNF33B 7582 Transcript NM_006955.3 protein_coding 5/5 - - - 574 433 145 R/C Cgt/Tgt rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 ENST00000359467.8 - - - - RefSeq - G G - tolerated(0.7) benign(0) 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A intron_variant,non_coding_transcript_variant MODIFIER ZNF33B 7582 Transcript NR_130948.2 misc_RNA - 5/5 - - - - - - - rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - - - 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A intron_variant,non_coding_transcript_variant MODIFIER ZNF33B 7582 Transcript NR_130949.2 misc_RNA - 5/5 - - - - - - - rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - - - 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A intron_variant,non_coding_transcript_variant MODIFIER ZNF33B 7582 Transcript NR_130950.2 misc_RNA - 4/4 - - - - - - - rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - - - 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A intron_variant,non_coding_transcript_variant MODIFIER ZNF33B 7582 Transcript NR_130951.2 misc_RNA - 3/3 - - - - - - - rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - - - 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A missense_variant MODERATE ZNF33B 7582 Transcript XM_047425718.1 protein_coding 4/4 - - - 518 451 151 R/C Cgt/Tgt rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - - - 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A missense_variant MODERATE ZNF33B 7582 Transcript XM_047425719.1 protein_coding 5/5 - - - 571 430 144 R/C Cgt/Tgt rs210280,COSV63942707 - -1 - EntrezGene HGNC:13097 - - - - - RefSeq - G G - - - 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42594517-42594517 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000401702 TF_binding_site - - - - - - - - - rs210280,COSV63942707 - - - - - - - - - - - - - - - - - 0.7270 - 0,1 1,1 36224396 - - - - - . 10:42737044-42737044 T splice_region_variant,non_coding_transcript_exon_variant LOW RSU1P1 ENSG00000230425 Transcript ENST00000453416.1 unprocessed_pseudogene 4/4 - - - 326 - - - - rs117658275 - 1 - HGNC HGNC:31114 - - - - - Ensembl - C C - - - 0.0314 - - - - - - - - - . 10:42784609-42784616 - intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 2/22 - - - - - - - - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - TT TT - - - - - - - - - - - - - . 10:42784609-42784616 - intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 2/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - TT TT - - - - - - - - - - - - - . 10:42784609-42784616 - intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 2/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - TT TT - - - - - - - - - - - - - . 10:42784609-42784616 - intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 2/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - TT TT - - - - - - - - - - - - - . 10:42784609-42784616 - intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 2/21 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - TT TT - - - - - - - - - - - - - . 10:42784609-42784616 - intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - TT TT - - - - - - - - - - - - - . 10:42784609-42784616 - intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 2/16 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - TT TT - - - - - - - - - - - - - . 10:42784609-42784616 - intron_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - 2/15 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - TT TT - - - - - - - - - - - - - . 10:42784609-42784616 - intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 2/16 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - TT TT - - - - - - - - - - - - - . 10:42785641-42785641 C synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 3/23 - - - 405 336 112 T acT/acC rs7074877,COSV65733988,COSV65734067 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - - - 0.5611 - 0,1,1 0,1,1 - - - - - - . 10:42785641-42785641 C synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 3/23 - - - 405 336 112 T acT/acC rs7074877,COSV65733988,COSV65734067 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - - - 0.5611 - 0,1,1 0,1,1 - - - - - - . 10:42785641-42785641 C synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 3/23 - - - 573 336 112 T acT/acC rs7074877,COSV65733988,COSV65734067 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.5611 - 0,1,1 0,1,1 - - - - - - . 10:42785641-42785641 C synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 3/23 - - - 425 336 112 T acT/acC rs7074877,COSV65733988,COSV65734067 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.5611 - 0,1,1 0,1,1 - - - - - - . 10:42785641-42785641 C synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 3/22 - - - 573 336 112 T acT/acC rs7074877,COSV65733988,COSV65734067 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.5611 - 0,1,1 0,1,1 - - - - - - . 10:42785641-42785641 C synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 3/20 - - - 573 336 112 T acT/acC rs7074877,COSV65733988,COSV65734067 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.5611 - 0,1,1 0,1,1 - - - - - - . 10:42785641-42785641 C synonymous_variant LOW BMS1 9790 Transcript XM_047426042.1 protein_coding 3/17 - - - 573 336 112 T acT/acC rs7074877,COSV65733988,COSV65734067 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.5611 - 0,1,1 0,1,1 - - - - - - . 10:42785641-42785641 C synonymous_variant LOW BMS1 9790 Transcript XM_047426043.1 protein_coding 3/16 - - - 573 336 112 T acT/acC rs7074877,COSV65733988,COSV65734067 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.5611 - 0,1,1 0,1,1 - - - - - - . 10:42785641-42785641 C non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 3/17 - - - 573 - - - - rs7074877,COSV65733988,COSV65734067 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.5611 - 0,1,1 0,1,1 - - - - - - . 10:42785641-42785641 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001178261 enhancer - - - - - - - - - rs7074877,COSV65733988,COSV65734067 - - - - - - - - - - - - - - - - - 0.5611 - 0,1,1 0,1,1 - - - - - - . 10:42816609-42816609 T synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 14/23 - - - 2409 2340 780 Y taC/taT rs779056948,COSV65734433 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:42816609-42816609 T synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 14/23 - - - 2409 2340 780 Y taC/taT rs779056948,COSV65734433 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42816609-42816609 T synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 14/23 - - - 2577 2340 780 Y taC/taT rs779056948,COSV65734433 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42816609-42816609 T synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 14/23 - - - 2429 2340 780 Y taC/taT rs779056948,COSV65734433 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42816609-42816609 T synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 14/22 - - - 2577 2340 780 Y taC/taT rs779056948,COSV65734433 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42816609-42816609 T synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 14/20 - - - 2577 2340 780 Y taC/taT rs779056948,COSV65734433 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42816609-42816609 T synonymous_variant LOW BMS1 9790 Transcript XM_047426042.1 protein_coding 14/17 - - - 2577 2340 780 Y taC/taT rs779056948,COSV65734433 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42816609-42816609 T synonymous_variant LOW BMS1 9790 Transcript XM_047426043.1 protein_coding 14/16 - - - 2577 2340 780 Y taC/taT rs779056948,COSV65734433 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42816609-42816609 T non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 14/17 - - - 2577 - - - - rs779056948,COSV65734433 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42816657-42816657 G synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 14/23 - - - 2457 2388 796 S tcA/tcG - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:42816657-42816657 G synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 14/23 - - - 2457 2388 796 S tcA/tcG - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42816657-42816657 G synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 14/23 - - - 2625 2388 796 S tcA/tcG - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42816657-42816657 G synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 14/23 - - - 2477 2388 796 S tcA/tcG - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42816657-42816657 G synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 14/22 - - - 2625 2388 796 S tcA/tcG - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42816657-42816657 G synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 14/20 - - - 2625 2388 796 S tcA/tcG - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42816657-42816657 G synonymous_variant LOW BMS1 9790 Transcript XM_047426042.1 protein_coding 14/17 - - - 2625 2388 796 S tcA/tcG - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42816657-42816657 G synonymous_variant LOW BMS1 9790 Transcript XM_047426043.1 protein_coding 14/16 - - - 2625 2388 796 S tcA/tcG - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42816657-42816657 G non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 14/17 - - - 2625 - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42816664-42816664 G missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 14/23 - - - 2464 2395 799 N/D Aat/Gat rs766687274,COSV65735251 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:42816664-42816664 G missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 14/23 - - - 2464 2395 799 N/D Aat/Gat rs766687274,COSV65735251 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:42816664-42816664 G missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 14/23 - - - 2632 2395 799 N/D Aat/Gat rs766687274,COSV65735251 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:42816664-42816664 G missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 14/23 - - - 2484 2395 799 N/D Aat/Gat rs766687274,COSV65735251 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:42816664-42816664 G missense_variant MODERATE BMS1 9790 Transcript XM_047426040.1 protein_coding 14/22 - - - 2632 2395 799 N/D Aat/Gat rs766687274,COSV65735251 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42816664-42816664 G missense_variant MODERATE BMS1 9790 Transcript XM_047426041.1 protein_coding 14/20 - - - 2632 2395 799 N/D Aat/Gat rs766687274,COSV65735251 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42816664-42816664 G missense_variant MODERATE BMS1 9790 Transcript XM_047426042.1 protein_coding 14/17 - - - 2632 2395 799 N/D Aat/Gat rs766687274,COSV65735251 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42816664-42816664 G missense_variant MODERATE BMS1 9790 Transcript XM_047426043.1 protein_coding 14/16 - - - 2632 2395 799 N/D Aat/Gat rs766687274,COSV65735251 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42816664-42816664 G non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 14/17 - - - 2632 - - - - rs766687274,COSV65735251 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42817255-42817255 T intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 14/22 - - - - - - - - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:42817255-42817255 T intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 14/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42817255-42817255 T intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 14/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42817255-42817255 T intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 14/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42817255-42817255 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 14/21 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42817255-42817255 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 14/19 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42817255-42817255 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 14/16 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42817255-42817255 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - 14/15 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42817255-42817255 T intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 14/16 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42817256-42817256 G intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 14/22 - - - - - - - rs1358360797 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:42817256-42817256 G intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 14/22 - - - - - - - rs1358360797 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817256-42817256 G intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 14/22 - - - - - - - rs1358360797 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817256-42817256 G intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 14/22 - - - - - - - rs1358360797 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817256-42817256 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 14/21 - - - - - - - rs1358360797 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817256-42817256 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 14/19 - - - - - - - rs1358360797 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817256-42817256 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 14/16 - - - - - - - rs1358360797 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817256-42817256 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - 14/15 - - - - - - - rs1358360797 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817256-42817256 G intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 14/16 - - - - - - - rs1358360797 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817359-42817359 T synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 15/23 - - - 2514 2445 815 P ccC/ccT rs11239786,COSV65732868 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - 0.2051 - 0,1 0,1 29168353 - - - - - . 10:42817359-42817359 T synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 15/23 - - - 2514 2445 815 P ccC/ccT rs11239786,COSV65732868 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - 0.2051 - 0,1 0,1 29168353 - - - - - . 10:42817359-42817359 T synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 15/23 - - - 2682 2445 815 P ccC/ccT rs11239786,COSV65732868 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.2051 - 0,1 0,1 29168353 - - - - - . 10:42817359-42817359 T synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 15/23 - - - 2534 2445 815 P ccC/ccT rs11239786,COSV65732868 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.2051 - 0,1 0,1 29168353 - - - - - . 10:42817359-42817359 T synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 15/22 - - - 2682 2445 815 P ccC/ccT rs11239786,COSV65732868 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.2051 - 0,1 0,1 29168353 - - - - - . 10:42817359-42817359 T synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 15/20 - - - 2682 2445 815 P ccC/ccT rs11239786,COSV65732868 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.2051 - 0,1 0,1 29168353 - - - - - . 10:42817359-42817359 T synonymous_variant LOW BMS1 9790 Transcript XM_047426042.1 protein_coding 15/17 - - - 2682 2445 815 P ccC/ccT rs11239786,COSV65732868 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.2051 - 0,1 0,1 29168353 - - - - - . 10:42817359-42817359 T synonymous_variant LOW BMS1 9790 Transcript XM_047426043.1 protein_coding 15/16 - - - 2682 2445 815 P ccC/ccT rs11239786,COSV65732868 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.2051 - 0,1 0,1 29168353 - - - - - . 10:42817359-42817359 T non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 15/17 - - - 2682 - - - - rs11239786,COSV65732868 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.2051 - 0,1 0,1 29168353 - - - - - . 10:42817427-42817427 T missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 15/23 - - - 2582 2513 838 A/V gCa/gTa - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - deleterious_low_confidence(0.04) benign(0.173) - - - - - - - - - - . 10:42817427-42817427 T missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 15/23 - - - 2582 2513 838 A/V gCa/gTa - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - deleterious_low_confidence(0.04) benign(0.173) - - - - - - - - - - . 10:42817427-42817427 T missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 15/23 - - - 2750 2513 838 A/V gCa/gTa - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - deleterious_low_confidence(0.04) benign(0.173) - - - - - - - - - - . 10:42817427-42817427 T missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 15/23 - - - 2602 2513 838 A/V gCa/gTa - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - deleterious_low_confidence(0.04) benign(0.173) - - - - - - - - - - . 10:42817427-42817427 T missense_variant MODERATE BMS1 9790 Transcript XM_047426040.1 protein_coding 15/22 - - - 2750 2513 838 A/V gCa/gTa - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817427-42817427 T missense_variant MODERATE BMS1 9790 Transcript XM_047426041.1 protein_coding 15/20 - - - 2750 2513 838 A/V gCa/gTa - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817427-42817427 T missense_variant MODERATE BMS1 9790 Transcript XM_047426042.1 protein_coding 15/17 - - - 2750 2513 838 A/V gCa/gTa - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817427-42817427 T missense_variant MODERATE BMS1 9790 Transcript XM_047426043.1 protein_coding 15/16 - - - 2750 2513 838 A/V gCa/gTa - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817427-42817427 T non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 15/17 - - - 2750 - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42817428-42817428 G synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 15/23 - - - 2583 2514 838 A gcA/gcG rs1364856516,COSV65733309 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:42817428-42817428 G synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 15/23 - - - 2583 2514 838 A gcA/gcG rs1364856516,COSV65733309 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42817428-42817428 G synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 15/23 - - - 2751 2514 838 A gcA/gcG rs1364856516,COSV65733309 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42817428-42817428 G synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 15/23 - - - 2603 2514 838 A gcA/gcG rs1364856516,COSV65733309 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42817428-42817428 G synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 15/22 - - - 2751 2514 838 A gcA/gcG rs1364856516,COSV65733309 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42817428-42817428 G synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 15/20 - - - 2751 2514 838 A gcA/gcG rs1364856516,COSV65733309 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42817428-42817428 G synonymous_variant LOW BMS1 9790 Transcript XM_047426042.1 protein_coding 15/17 - - - 2751 2514 838 A gcA/gcG rs1364856516,COSV65733309 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42817428-42817428 G synonymous_variant LOW BMS1 9790 Transcript XM_047426043.1 protein_coding 15/16 - - - 2751 2514 838 A gcA/gcG rs1364856516,COSV65733309 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42817428-42817428 G non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 15/17 - - - 2751 - - - - rs1364856516,COSV65733309 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42817486-42817486 G missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 15/23 - - - 2641 2572 858 Q/E Caa/Gaa rs4261239,COSV65733312 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - deleterious_low_confidence(0) possibly_damaging(0.708) - - 0,1 0,1 - - - - - - . 10:42817486-42817486 G missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 15/23 - - - 2641 2572 858 Q/E Caa/Gaa rs4261239,COSV65733312 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - deleterious_low_confidence(0) possibly_damaging(0.708) - - 0,1 0,1 - - - - - - . 10:42817486-42817486 G missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 15/23 - - - 2809 2572 858 Q/E Caa/Gaa rs4261239,COSV65733312 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - deleterious_low_confidence(0) possibly_damaging(0.708) - - 0,1 0,1 - - - - - - . 10:42817486-42817486 G missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 15/23 - - - 2661 2572 858 Q/E Caa/Gaa rs4261239,COSV65733312 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - deleterious_low_confidence(0) possibly_damaging(0.708) - - 0,1 0,1 - - - - - - . 10:42817486-42817486 G missense_variant MODERATE BMS1 9790 Transcript XM_047426040.1 protein_coding 15/22 - - - 2809 2572 858 Q/E Caa/Gaa rs4261239,COSV65733312 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42817486-42817486 G missense_variant MODERATE BMS1 9790 Transcript XM_047426041.1 protein_coding 15/20 - - - 2809 2572 858 Q/E Caa/Gaa rs4261239,COSV65733312 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42817486-42817486 G missense_variant MODERATE BMS1 9790 Transcript XM_047426042.1 protein_coding 15/17 - - - 2809 2572 858 Q/E Caa/Gaa rs4261239,COSV65733312 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42817486-42817486 G missense_variant MODERATE BMS1 9790 Transcript XM_047426043.1 protein_coding 15/16 - - - 2809 2572 858 Q/E Caa/Gaa rs4261239,COSV65733312 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42817486-42817486 G non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 15/17 - - - 2809 - - - - rs4261239,COSV65733312 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42817538-42817538 C intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 15/22 - - - - - - - COSV65735065 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - - - - - 1 1 - - - - - - . 10:42817538-42817538 C intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 15/22 - - - - - - - COSV65735065 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42817538-42817538 C intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 15/22 - - - - - - - COSV65735065 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42817538-42817538 C intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 15/22 - - - - - - - COSV65735065 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42817538-42817538 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - COSV65735065 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42817538-42817538 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 15/19 - - - - - - - COSV65735065 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42817538-42817538 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 15/16 - - - - - - - COSV65735065 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42817538-42817538 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - 15/15 - - - - - - - COSV65735065 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42817538-42817538 C intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 15/16 - - - - - - - COSV65735065 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42817543-42817543 T intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 15/22 - - - - - - - rs376412660 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - 0.0004 - - - - - - - - - . 10:42817543-42817543 T intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 15/22 - - - - - - - rs376412660 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - 0.0004 - - - - - - - - - . 10:42817543-42817543 T intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 15/22 - - - - - - - rs376412660 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0004 - - - - - - - - - . 10:42817543-42817543 T intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 15/22 - - - - - - - rs376412660 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0004 - - - - - - - - - . 10:42817543-42817543 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs376412660 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0004 - - - - - - - - - . 10:42817543-42817543 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 15/19 - - - - - - - rs376412660 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0004 - - - - - - - - - . 10:42817543-42817543 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 15/16 - - - - - - - rs376412660 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0004 - - - - - - - - - . 10:42817543-42817543 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - 15/15 - - - - - - - rs376412660 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0004 - - - - - - - - - . 10:42817543-42817543 T intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 15/16 - - - - - - - rs376412660 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0004 - - - - - - - - - . 10:42820115-42820115 A intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 15/22 - - - - - - - rs954777633 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:42820115-42820115 A intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 15/22 - - - - - - - rs954777633 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820115-42820115 A intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 15/22 - - - - - - - rs954777633 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820115-42820115 A intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 15/22 - - - - - - - rs954777633 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820115-42820115 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs954777633 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820115-42820115 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 15/19 - - - - - - - rs954777633 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820115-42820115 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 15/16 - - - - - - - rs954777633 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820115-42820115 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - 15/15 - - - - - - - rs954777633 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820115-42820115 A intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 15/16 - - - - - - - rs954777633 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820181-42820181 C intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 15/22 - - - - - - - COSV65734364 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - - - - - 1 1 - - - - - - . 10:42820181-42820181 C intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 15/22 - - - - - - - COSV65734364 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42820181-42820181 C intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 15/22 - - - - - - - COSV65734364 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42820181-42820181 C intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 15/22 - - - - - - - COSV65734364 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42820181-42820181 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - COSV65734364 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42820181-42820181 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 15/19 - - - - - - - COSV65734364 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42820181-42820181 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 15/16 - - - - - - - COSV65734364 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42820181-42820181 C splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_047426043.1 protein_coding - 15/15 - - - - - - - COSV65734364 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42820181-42820181 C splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW BMS1 9790 Transcript XR_007062019.1 misc_RNA - 15/16 - - - - - - - COSV65734364 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:42820243-42820243 A missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 16/23 - - - 2657 2588 863 R/H cGc/cAc rs149685685,COSV65733315,COSV65734000 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - deleterious_low_confidence(0.04) benign(0.011) 0.0002 - 0,1,1 0,1,1 - - - - - - . 10:42820243-42820243 A missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 16/23 - - - 2657 2588 863 R/H cGc/cAc rs149685685,COSV65733315,COSV65734000 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - deleterious_low_confidence(0.04) benign(0.011) 0.0002 - 0,1,1 0,1,1 - - - - - - . 10:42820243-42820243 A missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 16/23 - - - 2825 2588 863 R/H cGc/cAc rs149685685,COSV65733315,COSV65734000 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - deleterious_low_confidence(0.04) benign(0.011) 0.0002 - 0,1,1 0,1,1 - - - - - - . 10:42820243-42820243 A missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 16/23 - - - 2677 2588 863 R/H cGc/cAc rs149685685,COSV65733315,COSV65734000 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - deleterious_low_confidence(0.04) benign(0.011) 0.0002 - 0,1,1 0,1,1 - - - - - - . 10:42820243-42820243 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs149685685,COSV65733315,COSV65734000 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0002 - 0,1,1 0,1,1 - - - - - - . 10:42820243-42820243 A missense_variant MODERATE BMS1 9790 Transcript XM_047426041.1 protein_coding 16/20 - - - 2825 2588 863 R/H cGc/cAc rs149685685,COSV65733315,COSV65734000 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0002 - 0,1,1 0,1,1 - - - - - - . 10:42820243-42820243 A missense_variant MODERATE BMS1 9790 Transcript XM_047426042.1 protein_coding 16/17 - - - 2825 2588 863 R/H cGc/cAc rs149685685,COSV65733315,COSV65734000 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0002 - 0,1,1 0,1,1 - - - - - - . 10:42820243-42820243 A synonymous_variant LOW BMS1 9790 Transcript XM_047426043.1 protein_coding 16/16 - - - 2865 2628 876 S tcG/tcA rs149685685,COSV65733315,COSV65734000 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0002 - 0,1,1 0,1,1 - - - - - - . 10:42820243-42820243 A non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 16/17 - - - 2865 - - - - rs149685685,COSV65733315,COSV65734000 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0002 - 0,1,1 0,1,1 - - - - - - . 10:42820244-42820244 T synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 16/23 - - - 2658 2589 863 R cgC/cgT rs145515531,COSV100996910 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - 0.0030 benign 0,1 1,1 - - - - - - . 10:42820244-42820244 T synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 16/23 - - - 2658 2589 863 R cgC/cgT rs145515531,COSV100996910 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - 0.0030 benign 0,1 1,1 - - - - - - . 10:42820244-42820244 T synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 16/23 - - - 2826 2589 863 R cgC/cgT rs145515531,COSV100996910 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0030 benign 0,1 1,1 - - - - - - . 10:42820244-42820244 T synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 16/23 - - - 2678 2589 863 R cgC/cgT rs145515531,COSV100996910 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0030 benign 0,1 1,1 - - - - - - . 10:42820244-42820244 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs145515531,COSV100996910 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0030 benign 0,1 1,1 - - - - - - . 10:42820244-42820244 T synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 16/20 - - - 2826 2589 863 R cgC/cgT rs145515531,COSV100996910 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0030 benign 0,1 1,1 - - - - - - . 10:42820244-42820244 T synonymous_variant LOW BMS1 9790 Transcript XM_047426042.1 protein_coding 16/17 - - - 2826 2589 863 R cgC/cgT rs145515531,COSV100996910 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0030 benign 0,1 1,1 - - - - - - . 10:42820244-42820244 T missense_variant MODERATE BMS1 9790 Transcript XM_047426043.1 protein_coding 16/16 - - - 2866 2629 877 R/C Cgc/Tgc rs145515531,COSV100996910 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0030 benign 0,1 1,1 - - - - - - . 10:42820244-42820244 T non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 16/17 - - - 2866 - - - - rs145515531,COSV100996910 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0030 benign 0,1 1,1 - - - - - - . 10:42820245-42820245 A missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 16/23 - - - 2659 2590 864 A/T Gca/Aca rs117641896,COSV65734688 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - tolerated_low_confidence(0.13) benign(0.054) 0.0413 - 0,1 0,1 - - - - - - . 10:42820245-42820245 A missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 16/23 - - - 2659 2590 864 A/T Gca/Aca rs117641896,COSV65734688 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - tolerated_low_confidence(0.13) benign(0.054) 0.0413 - 0,1 0,1 - - - - - - . 10:42820245-42820245 A missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 16/23 - - - 2827 2590 864 A/T Gca/Aca rs117641896,COSV65734688 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - tolerated_low_confidence(0.13) benign(0.054) 0.0413 - 0,1 0,1 - - - - - - . 10:42820245-42820245 A missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 16/23 - - - 2679 2590 864 A/T Gca/Aca rs117641896,COSV65734688 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - tolerated_low_confidence(0.13) benign(0.054) 0.0413 - 0,1 0,1 - - - - - - . 10:42820245-42820245 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs117641896,COSV65734688 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0413 - 0,1 0,1 - - - - - - . 10:42820245-42820245 A missense_variant MODERATE BMS1 9790 Transcript XM_047426041.1 protein_coding 16/20 - - - 2827 2590 864 A/T Gca/Aca rs117641896,COSV65734688 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0413 - 0,1 0,1 - - - - - - . 10:42820245-42820245 A missense_variant MODERATE BMS1 9790 Transcript XM_047426042.1 protein_coding 16/17 - - - 2827 2590 864 A/T Gca/Aca rs117641896,COSV65734688 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0413 - 0,1 0,1 - - - - - - . 10:42820245-42820245 A missense_variant MODERATE BMS1 9790 Transcript XM_047426043.1 protein_coding 16/16 - - - 2867 2630 877 R/H cGc/cAc rs117641896,COSV65734688 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0413 - 0,1 0,1 - - - - - - . 10:42820245-42820245 A non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 16/17 - - - 2867 - - - - rs117641896,COSV65734688 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0413 - 0,1 0,1 - - - - - - . 10:42820246-42820246 T missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 16/23 - - - 2660 2591 864 A/V gCa/gTa rs1287740896,COSV65733319 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - deleterious_low_confidence(0.03) benign(0.15) - - 0,1 0,1 - - - - - - . 10:42820246-42820246 T missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 16/23 - - - 2660 2591 864 A/V gCa/gTa rs1287740896,COSV65733319 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - deleterious_low_confidence(0.03) benign(0.15) - - 0,1 0,1 - - - - - - . 10:42820246-42820246 T missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 16/23 - - - 2828 2591 864 A/V gCa/gTa rs1287740896,COSV65733319 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - deleterious_low_confidence(0.03) benign(0.15) - - 0,1 0,1 - - - - - - . 10:42820246-42820246 T missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 16/23 - - - 2680 2591 864 A/V gCa/gTa rs1287740896,COSV65733319 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - deleterious_low_confidence(0.03) benign(0.15) - - 0,1 0,1 - - - - - - . 10:42820246-42820246 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs1287740896,COSV65733319 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820246-42820246 T missense_variant MODERATE BMS1 9790 Transcript XM_047426041.1 protein_coding 16/20 - - - 2828 2591 864 A/V gCa/gTa rs1287740896,COSV65733319 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820246-42820246 T missense_variant MODERATE BMS1 9790 Transcript XM_047426042.1 protein_coding 16/17 - - - 2828 2591 864 A/V gCa/gTa rs1287740896,COSV65733319 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820246-42820246 T synonymous_variant LOW BMS1 9790 Transcript XM_047426043.1 protein_coding 16/16 - - - 2868 2631 877 R cgC/cgT rs1287740896,COSV65733319 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820246-42820246 T non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 16/17 - - - 2868 - - - - rs1287740896,COSV65733319 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820310-42820310 T synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 16/23 - - - 2724 2655 885 Y taC/taT rs759149568,COSV65734440 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:42820310-42820310 T synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 16/23 - - - 2724 2655 885 Y taC/taT rs759149568,COSV65734440 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820310-42820310 T synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 16/23 - - - 2892 2655 885 Y taC/taT rs759149568,COSV65734440 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820310-42820310 T synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 16/23 - - - 2744 2655 885 Y taC/taT rs759149568,COSV65734440 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820310-42820310 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs759149568,COSV65734440 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820310-42820310 T synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 16/20 - - - 2892 2655 885 Y taC/taT rs759149568,COSV65734440 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820310-42820310 T splice_donor_region_variant,intron_variant LOW BMS1 9790 Transcript XM_047426042.1 protein_coding - 16/16 - - - - - - - rs759149568,COSV65734440 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820310-42820310 T 3_prime_UTR_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding 16/16 - - - 2932 - - - - rs759149568,COSV65734440 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820310-42820310 T splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW BMS1 9790 Transcript XR_007062019.1 misc_RNA - 16/16 - - - - - - - rs759149568,COSV65734440 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820317-42820317 G missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 16/23 - - - 2731 2662 888 I/V Att/Gtt rs2419108,COSV65733001 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - tolerated_low_confidence(0.5) benign(0.027) - - 0,1 0,1 - - - - - - . 10:42820317-42820317 G missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 16/23 - - - 2731 2662 888 I/V Att/Gtt rs2419108,COSV65733001 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - tolerated_low_confidence(0.5) benign(0.027) - - 0,1 0,1 - - - - - - . 10:42820317-42820317 G missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 16/23 - - - 2899 2662 888 I/V Att/Gtt rs2419108,COSV65733001 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - tolerated_low_confidence(0.5) benign(0.027) - - 0,1 0,1 - - - - - - . 10:42820317-42820317 G missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 16/23 - - - 2751 2662 888 I/V Att/Gtt rs2419108,COSV65733001 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - tolerated_low_confidence(0.5) benign(0.027) - - 0,1 0,1 - - - - - - . 10:42820317-42820317 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs2419108,COSV65733001 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820317-42820317 G missense_variant MODERATE BMS1 9790 Transcript XM_047426041.1 protein_coding 16/20 - - - 2899 2662 888 I/V Att/Gtt rs2419108,COSV65733001 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820317-42820317 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 16/16 - - - - - - - rs2419108,COSV65733001 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820317-42820317 G 3_prime_UTR_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding 16/16 - - - 2939 - - - - rs2419108,COSV65733001 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820317-42820317 G intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 16/16 - - - - - - - rs2419108,COSV65733001 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820356-42820356 A missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 16/23 - - - 2770 2701 901 F/I Ttt/Att rs200151761,COSV100996701,COSV65735172 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - deleterious_low_confidence(0) probably_damaging(0.998) - - 0,1,1 0,1,1 - - - - - - . 10:42820356-42820356 A missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 16/23 - - - 2770 2701 901 F/I Ttt/Att rs200151761,COSV100996701,COSV65735172 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - deleterious_low_confidence(0) probably_damaging(0.998) - - 0,1,1 0,1,1 - - - - - - . 10:42820356-42820356 A missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 16/23 - - - 2938 2701 901 F/I Ttt/Att rs200151761,COSV100996701,COSV65735172 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - deleterious_low_confidence(0) probably_damaging(0.998) - - 0,1,1 0,1,1 - - - - - - . 10:42820356-42820356 A missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 16/23 - - - 2790 2701 901 F/I Ttt/Att rs200151761,COSV100996701,COSV65735172 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - deleterious_low_confidence(0) probably_damaging(0.998) - - 0,1,1 0,1,1 - - - - - - . 10:42820356-42820356 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs200151761,COSV100996701,COSV65735172 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1,1 0,1,1 - - - - - - . 10:42820356-42820356 A missense_variant MODERATE BMS1 9790 Transcript XM_047426041.1 protein_coding 16/20 - - - 2938 2701 901 F/I Ttt/Att rs200151761,COSV100996701,COSV65735172 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1,1 0,1,1 - - - - - - . 10:42820356-42820356 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 16/16 - - - - - - - rs200151761,COSV100996701,COSV65735172 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1,1 0,1,1 - - - - - - . 10:42820356-42820356 A 3_prime_UTR_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding 16/16 - - - 2978 - - - - rs200151761,COSV100996701,COSV65735172 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1,1 0,1,1 - - - - - - . 10:42820356-42820356 A intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 16/16 - - - - - - - rs200151761,COSV100996701,COSV65735172 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1,1 0,1,1 - - - - - - . 10:42820400-42820400 C synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 16/23 - - - 2814 2745 915 S agT/agC rs3867299 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:42820400-42820400 C synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 16/23 - - - 2814 2745 915 S agT/agC rs3867299 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820400-42820400 C synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 16/23 - - - 2982 2745 915 S agT/agC rs3867299 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820400-42820400 C synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 16/23 - - - 2834 2745 915 S agT/agC rs3867299 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820400-42820400 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs3867299 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820400-42820400 C synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 16/20 - - - 2982 2745 915 S agT/agC rs3867299 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820400-42820400 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 16/16 - - - - - - - rs3867299 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820400-42820400 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs3867299 44 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820400-42820400 C intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 16/16 - - - - - - - rs3867299 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820415-42820415 A synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 16/23 - - - 2829 2760 920 G ggC/ggA rs3867300,COSV65732923 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:42820415-42820415 A synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 16/23 - - - 2829 2760 920 G ggC/ggA rs3867300,COSV65732923 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820415-42820415 A synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 16/23 - - - 2997 2760 920 G ggC/ggA rs3867300,COSV65732923 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820415-42820415 A synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 16/23 - - - 2849 2760 920 G ggC/ggA rs3867300,COSV65732923 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820415-42820415 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs3867300,COSV65732923 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820415-42820415 A synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 16/20 - - - 2997 2760 920 G ggC/ggA rs3867300,COSV65732923 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820415-42820415 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 16/16 - - - - - - - rs3867300,COSV65732923 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820415-42820415 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs3867300,COSV65732923 59 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820415-42820415 A intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 16/16 - - - - - - - rs3867300,COSV65732923 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820416-42820416 C missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 16/23 - - - 2830 2761 921 Y/H Tac/Cac rs3180998 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - deleterious_low_confidence(0) benign(0.229) - - - - - - - - - - . 10:42820416-42820416 C missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 16/23 - - - 2830 2761 921 Y/H Tac/Cac rs3180998 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.229) - - - - - - - - - - . 10:42820416-42820416 C missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 16/23 - - - 2998 2761 921 Y/H Tac/Cac rs3180998 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.229) - - - - - - - - - - . 10:42820416-42820416 C missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 16/23 - - - 2850 2761 921 Y/H Tac/Cac rs3180998 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.229) - - - - - - - - - - . 10:42820416-42820416 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs3180998 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820416-42820416 C missense_variant MODERATE BMS1 9790 Transcript XM_047426041.1 protein_coding 16/20 - - - 2998 2761 921 Y/H Tac/Cac rs3180998 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820416-42820416 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 16/16 - - - - - - - rs3180998 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820416-42820416 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs3180998 60 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820416-42820416 C intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 16/16 - - - - - - - rs3180998 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42820433-42820433 T intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 16/22 - - - - - - - - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:42820433-42820433 T intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 16/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820433-42820433 T intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 16/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820433-42820433 T intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 16/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820433-42820433 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820433-42820433 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 16/19 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820433-42820433 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 16/16 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820433-42820433 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - - 77 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820433-42820433 T intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 16/16 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820440-42820440 G intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 16/22 - - - - - - - rs3867301,COSV65733007 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:42820440-42820440 G intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 16/22 - - - - - - - rs3867301,COSV65733007 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820440-42820440 G intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 16/22 - - - - - - - rs3867301,COSV65733007 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820440-42820440 G intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 16/22 - - - - - - - rs3867301,COSV65733007 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820440-42820440 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs3867301,COSV65733007 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820440-42820440 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 16/19 - - - - - - - rs3867301,COSV65733007 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820440-42820440 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - 16/16 - - - - - - - rs3867301,COSV65733007 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820440-42820440 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs3867301,COSV65733007 84 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820440-42820440 G intron_variant,non_coding_transcript_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - 16/16 - - - - - - - rs3867301,COSV65733007 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42820498-42820498 A splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 16/22 - - - - - - - rs2419107 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - 0.0004 - - - - - - - - - . 10:42820498-42820498 A splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding - 16/22 - - - - - - - rs2419107 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - 0.0004 - - - - - - - - - . 10:42820498-42820498 A splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding - 16/22 - - - - - - - rs2419107 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0004 - - - - - - - - - . 10:42820498-42820498 A splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding - 16/22 - - - - - - - rs2419107 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0004 - - - - - - - - - . 10:42820498-42820498 A splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - rs2419107 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0004 - - - - - - - - - . 10:42820498-42820498 A splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding - 16/19 - - - - - - - rs2419107 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0004 - - - - - - - - - . 10:42820498-42820498 A splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_047426042.1 protein_coding - 16/16 - - - - - - - rs2419107 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0004 - - - - - - - - - . 10:42820498-42820498 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs2419107 142 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0004 - - - - - - - - - . 10:42820498-42820498 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW BMS1 9790 Transcript XR_007062019.1 misc_RNA - 16/16 - - - - - - - rs2419107 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - 0.0004 - - - - - - - - - . 10:42820499-42820503 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 16/22 - - - - - - - - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - - - - - - - - - - - - - - - - . 10:42820499-42820503 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding - 16/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820499-42820503 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding - 16/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820499-42820503 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding - 16/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820499-42820503 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding - 15/21 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820499-42820503 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding - 16/19 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820499-42820503 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_047426042.1 protein_coding - 16/16 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820499-42820503 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - - 147 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820499-42820503 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW BMS1 9790 Transcript XR_007062019.1 misc_RNA - 16/16 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820554-42820554 A missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 17/23 - - - 2885 2816 939 R/Q cGa/cAa rs1044440,COSV65733011,COSV65733435 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - deleterious_low_confidence(0.02) probably_damaging(0.913) - - 0,1,1 0,1,1 - - - - - - . 10:42820554-42820554 A missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 17/23 - - - 2885 2816 939 R/Q cGa/cAa rs1044440,COSV65733011,COSV65733435 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - deleterious_low_confidence(0.02) probably_damaging(0.913) - - 0,1,1 0,1,1 - - - - - - . 10:42820554-42820554 A missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 17/23 - - - 3053 2816 939 R/Q cGa/cAa rs1044440,COSV65733011,COSV65733435 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - deleterious_low_confidence(0.02) probably_damaging(0.913) - - 0,1,1 0,1,1 - - - - - - . 10:42820554-42820554 A missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 17/23 - - - 2905 2816 939 R/Q cGa/cAa rs1044440,COSV65733011,COSV65733435 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - deleterious_low_confidence(0.02) probably_damaging(0.913) - - 0,1,1 0,1,1 - - - - - - . 10:42820554-42820554 A missense_variant MODERATE BMS1 9790 Transcript XM_047426040.1 protein_coding 16/22 - - - 2864 2627 876 R/Q cGa/cAa rs1044440,COSV65733011,COSV65733435 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1,1 0,1,1 - - - - - - . 10:42820554-42820554 A missense_variant MODERATE BMS1 9790 Transcript XM_047426041.1 protein_coding 17/20 - - - 3053 2816 939 R/Q cGa/cAa rs1044440,COSV65733011,COSV65733435 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1,1 0,1,1 - - - - - - . 10:42820554-42820554 A 3_prime_UTR_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding 17/17 - - - 2935 - - - - rs1044440,COSV65733011,COSV65733435 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1,1 0,1,1 - - - - - - . 10:42820554-42820554 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs1044440,COSV65733011,COSV65733435 198 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1,1 0,1,1 - - - - - - . 10:42820554-42820554 A non_coding_transcript_exon_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA 17/17 - - - 2975 - - - - rs1044440,COSV65733011,COSV65733435 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1,1 0,1,1 - - - - - - . 10:42820603-42820603 G synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 17/23 - - - 2934 2865 955 P ccA/ccG rs3982202 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:42820603-42820603 G synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 17/23 - - - 2934 2865 955 P ccA/ccG rs3982202 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820603-42820603 G synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 17/23 - - - 3102 2865 955 P ccA/ccG rs3982202 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820603-42820603 G synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 17/23 - - - 2954 2865 955 P ccA/ccG rs3982202 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820603-42820603 G synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 16/22 - - - 2913 2676 892 P ccA/ccG rs3982202 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820603-42820603 G synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 17/20 - - - 3102 2865 955 P ccA/ccG rs3982202 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820603-42820603 G 3_prime_UTR_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding 17/17 - - - 2984 - - - - rs3982202 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820603-42820603 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs3982202 247 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820603-42820603 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs3982202 3 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820606-42820606 C synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 17/23 - - - 2937 2868 956 L ctG/ctC rs1062825 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:42820606-42820606 C synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 17/23 - - - 2937 2868 956 L ctG/ctC rs1062825 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820606-42820606 C synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 17/23 - - - 3105 2868 956 L ctG/ctC rs1062825 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820606-42820606 C synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 17/23 - - - 2957 2868 956 L ctG/ctC rs1062825 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820606-42820606 C synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 16/22 - - - 2916 2679 893 L ctG/ctC rs1062825 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820606-42820606 C synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 17/20 - - - 3105 2868 956 L ctG/ctC rs1062825 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820606-42820606 C 3_prime_UTR_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding 17/17 - - - 2987 - - - - rs1062825 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820606-42820606 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs1062825 250 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820606-42820606 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs1062825 6 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820672-42820672 T synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 17/23 - - - 3003 2934 978 C tgC/tgT rs1044446 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:42820672-42820672 T synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 17/23 - - - 3003 2934 978 C tgC/tgT rs1044446 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820672-42820672 T synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 17/23 - - - 3171 2934 978 C tgC/tgT rs1044446 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820672-42820672 T synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 17/23 - - - 3023 2934 978 C tgC/tgT rs1044446 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820672-42820672 T synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 16/22 - - - 2982 2745 915 C tgC/tgT rs1044446 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820672-42820672 T synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 17/20 - - - 3171 2934 978 C tgC/tgT rs1044446 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820672-42820672 T 3_prime_UTR_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding 17/17 - - - 3053 - - - - rs1044446 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820672-42820672 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs1044446 316 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820672-42820672 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs1044446 72 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42820716-42820716 A intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 17/22 - - - - - - - rs2419105 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:42820716-42820716 A intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 17/22 - - - - - - - rs2419105 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820716-42820716 A intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 17/22 - - - - - - - rs2419105 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820716-42820716 A intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 17/22 - - - - - - - rs2419105 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820716-42820716 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 16/21 - - - - - - - rs2419105 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820716-42820716 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 17/19 - - - - - - - rs2419105 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820716-42820716 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs2419105 28 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820716-42820716 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs2419105 360 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820716-42820716 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs2419105 116 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820722-42820722 G intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 17/22 - - - - - - - rs3982211,COSV65734077 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - - - 0.5583 - 0,1 0,1 - - - - - - . 10:42820722-42820722 G intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 17/22 - - - - - - - rs3982211,COSV65734077 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - - - 0.5583 - 0,1 0,1 - - - - - - . 10:42820722-42820722 G intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 17/22 - - - - - - - rs3982211,COSV65734077 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.5583 - 0,1 0,1 - - - - - - . 10:42820722-42820722 G intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 17/22 - - - - - - - rs3982211,COSV65734077 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.5583 - 0,1 0,1 - - - - - - . 10:42820722-42820722 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 16/21 - - - - - - - rs3982211,COSV65734077 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.5583 - 0,1 0,1 - - - - - - . 10:42820722-42820722 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 17/19 - - - - - - - rs3982211,COSV65734077 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.5583 - 0,1 0,1 - - - - - - . 10:42820722-42820722 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs3982211,COSV65734077 34 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.5583 - 0,1 0,1 - - - - - - . 10:42820722-42820722 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs3982211,COSV65734077 366 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.5583 - 0,1 0,1 - - - - - - . 10:42820722-42820722 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs3982211,COSV65734077 122 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.5583 - 0,1 0,1 - - - - - - . 10:42820750-42820750 T intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 17/22 - - - - - - - rs3982209 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:42820750-42820750 T intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 17/22 - - - - - - - rs3982209 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820750-42820750 T intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 17/22 - - - - - - - rs3982209 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820750-42820750 T intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 17/22 - - - - - - - rs3982209 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820750-42820750 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 16/21 - - - - - - - rs3982209 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820750-42820750 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 17/19 - - - - - - - rs3982209 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820750-42820750 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs3982209 62 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820750-42820750 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs3982209 394 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820750-42820750 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs3982209 150 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42820765-42820766 C intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 17/22 - - - - - - - - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - - - - - - - - - - - - - - - - . 10:42820765-42820766 C intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 17/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820765-42820766 C intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 17/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820765-42820766 C intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 17/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820765-42820766 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 16/21 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820765-42820766 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 17/19 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820765-42820766 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - - 78 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820765-42820766 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - - 410 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820765-42820766 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - - 166 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42820902-42820902 T intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 17/22 - - - - - - - rs3982208,COSV65735668 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:42820902-42820902 T intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 17/22 - - - - - - - rs3982208,COSV65735668 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820902-42820902 T intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 17/22 - - - - - - - rs3982208,COSV65735668 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820902-42820902 T intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 17/22 - - - - - - - rs3982208,COSV65735668 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820902-42820902 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 16/21 - - - - - - - rs3982208,COSV65735668 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820902-42820902 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 17/19 - - - - - - - rs3982208,COSV65735668 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820902-42820902 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs3982208,COSV65735668 214 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820902-42820902 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs3982208,COSV65735668 546 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820902-42820902 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs3982208,COSV65735668 302 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42820934-42820934 A missense_variant,splice_region_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 18/23 - - - 3020 2951 984 G/D gGc/gAc rs2419103 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.986) - - - - - - - - - - . 10:42820934-42820934 A missense_variant,splice_region_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 18/23 - - - 3020 2951 984 G/D gGc/gAc rs2419103 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.986) - - - - - - - - - - . 10:42820934-42820934 A missense_variant,splice_region_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 18/23 - - - 3188 2951 984 G/D gGc/gAc rs2419103 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.986) - - - - - - - - - - . 10:42820934-42820934 A missense_variant,splice_region_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 18/23 - - - 3040 2951 984 G/D gGc/gAc rs2419103 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.986) - - - - - - - - - - . 10:42820934-42820934 A missense_variant,splice_region_variant MODERATE BMS1 9790 Transcript XM_047426040.1 protein_coding 17/22 - - - 2999 2762 921 G/D gGc/gAc rs2419103 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820934-42820934 A missense_variant,splice_region_variant MODERATE BMS1 9790 Transcript XM_047426041.1 protein_coding 18/20 - - - 3188 2951 984 G/D gGc/gAc rs2419103 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820934-42820934 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs2419103 246 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820934-42820934 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs2419103 578 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42820934-42820934 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs2419103 334 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821007-42821007 C intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 18/22 - - - - - - - rs878899518,COSV65734039 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:42821007-42821007 C intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 18/22 - - - - - - - rs878899518,COSV65734039 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42821007-42821007 C intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 18/22 - - - - - - - rs878899518,COSV65734039 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42821007-42821007 C intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 18/22 - - - - - - - rs878899518,COSV65734039 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42821007-42821007 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 17/21 - - - - - - - rs878899518,COSV65734039 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42821007-42821007 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 18/19 - - - - - - - rs878899518,COSV65734039 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42821007-42821007 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs878899518,COSV65734039 319 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42821007-42821007 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs878899518,COSV65734039 651 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42821007-42821007 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs878899518,COSV65734039 407 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42821045-42821045 A intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 18/22 - - - - - - - rs2419102 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:42821045-42821045 A intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 18/22 - - - - - - - rs2419102 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821045-42821045 A intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 18/22 - - - - - - - rs2419102 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821045-42821045 A intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 18/22 - - - - - - - rs2419102 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821045-42821045 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 17/21 - - - - - - - rs2419102 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821045-42821045 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 18/19 - - - - - - - rs2419102 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821045-42821045 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs2419102 357 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821045-42821045 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs2419102 689 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821045-42821045 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs2419102 445 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821046-42821046 A intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 18/22 - - - - - - - rs2419101 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:42821046-42821046 A intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 18/22 - - - - - - - rs2419101 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821046-42821046 A intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 18/22 - - - - - - - rs2419101 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821046-42821046 A intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 18/22 - - - - - - - rs2419101 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821046-42821046 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 17/21 - - - - - - - rs2419101 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821046-42821046 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 18/19 - - - - - - - rs2419101 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821046-42821046 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs2419101 358 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821046-42821046 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs2419101 690 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821046-42821046 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs2419101 446 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821103-42821103 T intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 18/22 - - - - - - - rs3962333 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:42821103-42821103 T intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 18/22 - - - - - - - rs3962333 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821103-42821103 T intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 18/22 - - - - - - - rs3962333 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821103-42821103 T intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 18/22 - - - - - - - rs3962333 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821103-42821103 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 17/21 - - - - - - - rs3962333 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821103-42821103 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 18/19 - - - - - - - rs3962333 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821103-42821103 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs3962333 415 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821103-42821103 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs3962333 747 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821103-42821103 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs3962333 503 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821134-42821134 G intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 18/22 - - - - - - - rs4593964 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:42821134-42821134 G intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 18/22 - - - - - - - rs4593964 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821134-42821134 G intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 18/22 - - - - - - - rs4593964 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821134-42821134 G intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 18/22 - - - - - - - rs4593964 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821134-42821134 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 17/21 - - - - - - - rs4593964 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821134-42821134 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 18/19 - - - - - - - rs4593964 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821134-42821134 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs4593964 446 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821134-42821134 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs4593964 778 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821134-42821134 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs4593964 534 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42821141-42821141 C intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 18/22 - - - - - - - rs2419100 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:42821141-42821141 C intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 18/22 - - - - - - - rs2419100 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821141-42821141 C intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 18/22 - - - - - - - rs2419100 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821141-42821141 C intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 18/22 - - - - - - - rs2419100 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821141-42821141 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 17/21 - - - - - - - rs2419100 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821141-42821141 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 18/19 - - - - - - - rs2419100 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821141-42821141 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs2419100 453 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821141-42821141 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs2419100 785 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821141-42821141 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs2419100 541 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42821932-42821932 G intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 18/22 - - - - - - - rs1554799045,COSV65735327 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:42821932-42821932 G intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 18/22 - - - - - - - rs1554799045,COSV65735327 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42821932-42821932 G intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 18/22 - - - - - - - rs1554799045,COSV65735327 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42821932-42821932 G intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 18/22 - - - - - - - rs1554799045,COSV65735327 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42821932-42821932 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 17/21 - - - - - - - rs1554799045,COSV65735327 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42821932-42821932 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 18/19 - - - - - - - rs1554799045,COSV65735327 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42821932-42821932 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs1554799045,COSV65735327 1244 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42821932-42821932 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs1554799045,COSV65735327 1576 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42821932-42821932 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs1554799045,COSV65735327 1332 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42822023-42822023 A intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 18/22 - - - - - - - - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:42822023-42822023 A intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 18/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822023-42822023 A intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 18/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822023-42822023 A intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 18/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822023-42822023 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 17/21 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822023-42822023 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 18/19 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822023-42822023 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - - 1335 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822023-42822023 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - - 1667 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822023-42822023 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - - 1423 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822052-42822052 C splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 18/22 - - - - - - - - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:42822052-42822052 C splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding - 18/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822052-42822052 C splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding - 18/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822052-42822052 C splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding - 18/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822052-42822052 C splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding - 17/21 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822052-42822052 C splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding - 18/19 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822052-42822052 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - - 1364 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822052-42822052 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - - 1696 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822052-42822052 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - - 1452 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822082-42822082 C synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 19/23 - - - 3099 3030 1010 A gcT/gcC rs751422893 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:42822082-42822082 C synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 19/23 - - - 3099 3030 1010 A gcT/gcC rs751422893 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822082-42822082 C synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 19/23 - - - 3267 3030 1010 A gcT/gcC rs751422893 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822082-42822082 C synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 19/23 - - - 3119 3030 1010 A gcT/gcC rs751422893 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822082-42822082 C synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 18/22 - - - 3078 2841 947 A gcT/gcC rs751422893 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822082-42822082 C synonymous_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 19/20 - - - 3267 3030 1010 A gcT/gcC rs751422893 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822082-42822082 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs751422893 1394 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822082-42822082 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs751422893 1726 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822082-42822082 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs751422893 1482 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822253-42822253 C intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 19/22 - - - - - - - rs3962332 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:42822253-42822253 C intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 19/22 - - - - - - - rs3962332 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822253-42822253 C intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 19/22 - - - - - - - rs3962332 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822253-42822253 C intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 19/22 - - - - - - - rs3962332 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822253-42822253 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 18/21 - - - - - - - rs3962332 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822253-42822253 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - rs3962332 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822253-42822253 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs3962332 1565 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822253-42822253 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs3962332 1897 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822253-42822253 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs3962332 1653 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:42822260-42822260 G intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 19/22 - - - - - - - - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:42822260-42822260 G intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 19/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42822260-42822260 G intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 19/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42822260-42822260 G intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 19/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42822260-42822260 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 18/21 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42822260-42822260 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42822260-42822260 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - - 1572 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42822260-42822260 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - - 1904 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42822260-42822260 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - - 1660 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42822278-42822278 G intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 19/22 - - - - - - - rs2795531 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - - - 0.8756 - - - - - - - - - . 10:42822278-42822278 G intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 19/22 - - - - - - - rs2795531 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - - - 0.8756 - - - - - - - - - . 10:42822278-42822278 G intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 19/22 - - - - - - - rs2795531 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.8756 - - - - - - - - - . 10:42822278-42822278 G intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 19/22 - - - - - - - rs2795531 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.8756 - - - - - - - - - . 10:42822278-42822278 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 18/21 - - - - - - - rs2795531 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.8756 - - - - - - - - - . 10:42822278-42822278 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - rs2795531 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.8756 - - - - - - - - - . 10:42822278-42822278 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs2795531 1590 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.8756 - - - - - - - - - . 10:42822278-42822278 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs2795531 1922 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.8756 - - - - - - - - - . 10:42822278-42822278 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs2795531 1678 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - 0.8756 - - - - - - - - - . 10:42822336-42822336 A intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 19/22 - - - - - - - rs1338534922 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:42822336-42822336 A intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 19/22 - - - - - - - rs1338534922 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822336-42822336 A intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 19/22 - - - - - - - rs1338534922 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822336-42822336 A intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 19/22 - - - - - - - rs1338534922 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822336-42822336 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 18/21 - - - - - - - rs1338534922 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822336-42822336 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - rs1338534922 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822336-42822336 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs1338534922 1648 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822336-42822336 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs1338534922 1980 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822336-42822336 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs1338534922 1736 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42822993-42822993 A intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 19/22 - - - - - - - rs879056820,COSV65733137 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:42822993-42822993 A intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 19/22 - - - - - - - rs879056820,COSV65733137 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42822993-42822993 A intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 19/22 - - - - - - - rs879056820,COSV65733137 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42822993-42822993 A intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 19/22 - - - - - - - rs879056820,COSV65733137 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42822993-42822993 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 18/21 - - - - - - - rs879056820,COSV65733137 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42822993-42822993 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - rs879056820,COSV65733137 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42822993-42822993 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs879056820,COSV65733137 2305 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42822993-42822993 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs879056820,COSV65733137 2637 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42822993-42822993 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs879056820,COSV65733137 2393 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42823037-42823037 C intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 19/22 - - - - - - - rs548402930 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - - - 0.0004 - - - - - - - - - . 10:42823037-42823037 C intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 19/22 - - - - - - - rs548402930 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - - - 0.0004 - - - - - - - - - . 10:42823037-42823037 C intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 19/22 - - - - - - - rs548402930 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.0004 - - - - - - - - - . 10:42823037-42823037 C intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 19/22 - - - - - - - rs548402930 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.0004 - - - - - - - - - . 10:42823037-42823037 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 18/21 - - - - - - - rs548402930 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.0004 - - - - - - - - - . 10:42823037-42823037 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - rs548402930 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.0004 - - - - - - - - - . 10:42823037-42823037 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs548402930 2349 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.0004 - - - - - - - - - . 10:42823037-42823037 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs548402930 2681 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.0004 - - - - - - - - - . 10:42823037-42823037 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs548402930 2437 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - 0.0004 - - - - - - - - - . 10:42823082-42823095 GT intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 19/22 - - - - - - - - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - - - - - - - - - - - - - - - - . 10:42823082-42823095 GT intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 19/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42823082-42823095 GT intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 19/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42823082-42823095 GT intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 19/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42823082-42823095 GT intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 18/21 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42823082-42823095 GT intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42823082-42823095 GT downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - - 2407 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42823082-42823095 GT downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - - 2739 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42823082-42823095 GT downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - - 2495 1 - EntrezGene HGNC:23505 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:42823158-42823158 A missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 20/23 - - - 3242 3173 1058 G/D gGt/gAt rs199886021,COSV65734463 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.968) - - 0,1 0,1 - - - - - - . 10:42823158-42823158 A missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 20/23 - - - 3242 3173 1058 G/D gGt/gAt rs199886021,COSV65734463 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.968) - - 0,1 0,1 - - - - - - . 10:42823158-42823158 A missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 20/23 - - - 3410 3173 1058 G/D gGt/gAt rs199886021,COSV65734463 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.968) - - 0,1 0,1 - - - - - - . 10:42823158-42823158 A missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 20/23 - - - 3262 3173 1058 G/D gGt/gAt rs199886021,COSV65734463 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.968) - - 0,1 0,1 - - - - - - . 10:42823158-42823158 A missense_variant MODERATE BMS1 9790 Transcript XM_047426040.1 protein_coding 19/22 - - - 3221 2984 995 G/D gGt/gAt rs199886021,COSV65734463 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823158-42823158 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - rs199886021,COSV65734463 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823158-42823158 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs199886021,COSV65734463 2470 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823158-42823158 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs199886021,COSV65734463 2802 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823158-42823158 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs199886021,COSV65734463 2558 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823174-42823174 T synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 20/23 - - - 3258 3189 1063 T acA/acT rs747439552,COSV65733127 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:42823174-42823174 T synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 20/23 - - - 3258 3189 1063 T acA/acT rs747439552,COSV65733127 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823174-42823174 T synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 20/23 - - - 3426 3189 1063 T acA/acT rs747439552,COSV65733127 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823174-42823174 T synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 20/23 - - - 3278 3189 1063 T acA/acT rs747439552,COSV65733127 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823174-42823174 T synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 19/22 - - - 3237 3000 1000 T acA/acT rs747439552,COSV65733127 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823174-42823174 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - rs747439552,COSV65733127 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823174-42823174 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs747439552,COSV65733127 2486 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823174-42823174 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs747439552,COSV65733127 2818 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823174-42823174 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs747439552,COSV65733127 2574 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823211-42823211 T stop_gained HIGH BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 20/23 - - - 3295 3226 1076 R/* Cga/Tga rs200996070,COSV65733132 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:42823211-42823211 T stop_gained HIGH BMS1 9790 Transcript NM_014753.4 protein_coding 20/23 - - - 3295 3226 1076 R/* Cga/Tga rs200996070,COSV65733132 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823211-42823211 T stop_gained HIGH BMS1 9790 Transcript XM_005271846.4 protein_coding 20/23 - - - 3463 3226 1076 R/* Cga/Tga rs200996070,COSV65733132 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823211-42823211 T stop_gained HIGH BMS1 9790 Transcript XM_011540402.3 protein_coding 20/23 - - - 3315 3226 1076 R/* Cga/Tga rs200996070,COSV65733132 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823211-42823211 T stop_gained HIGH BMS1 9790 Transcript XM_047426040.1 protein_coding 19/22 - - - 3274 3037 1013 R/* Cga/Tga rs200996070,COSV65733132 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823211-42823211 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - rs200996070,COSV65733132 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823211-42823211 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs200996070,COSV65733132 2523 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823211-42823211 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs200996070,COSV65733132 2855 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823211-42823211 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs200996070,COSV65733132 2611 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823232-42823232 C synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 20/23 - - - 3316 3247 1083 R Agg/Cgg rs202124777,COSV65735609 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:42823232-42823232 C synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 20/23 - - - 3316 3247 1083 R Agg/Cgg rs202124777,COSV65735609 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823232-42823232 C synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 20/23 - - - 3484 3247 1083 R Agg/Cgg rs202124777,COSV65735609 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823232-42823232 C synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 20/23 - - - 3336 3247 1083 R Agg/Cgg rs202124777,COSV65735609 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823232-42823232 C synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 19/22 - - - 3295 3058 1020 R Agg/Cgg rs202124777,COSV65735609 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823232-42823232 C intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - rs202124777,COSV65735609 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823232-42823232 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs202124777,COSV65735609 2544 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823232-42823232 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs202124777,COSV65735609 2876 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823232-42823232 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs202124777,COSV65735609 2632 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:42823257-42823257 G missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 20/23 - - - 3341 3272 1091 L/R cTg/cGg rs767063579,COSV65735674 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - T T - deleterious_low_confidence(0.01) probably_damaging(1) - - 0,1 0,1 - - - - - - . 10:42823257-42823257 G missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 20/23 - - - 3341 3272 1091 L/R cTg/cGg rs767063579,COSV65735674 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - T T - deleterious_low_confidence(0.01) probably_damaging(1) - - 0,1 0,1 - - - - - - . 10:42823257-42823257 G missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 20/23 - - - 3509 3272 1091 L/R cTg/cGg rs767063579,COSV65735674 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - deleterious_low_confidence(0.01) probably_damaging(1) - - 0,1 0,1 - - - - - - . 10:42823257-42823257 G missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 20/23 - - - 3361 3272 1091 L/R cTg/cGg rs767063579,COSV65735674 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - deleterious_low_confidence(0.01) probably_damaging(1) - - 0,1 0,1 - - - - - - . 10:42823257-42823257 G missense_variant MODERATE BMS1 9790 Transcript XM_047426040.1 protein_coding 19/22 - - - 3320 3083 1028 L/R cTg/cGg rs767063579,COSV65735674 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42823257-42823257 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - rs767063579,COSV65735674 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42823257-42823257 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs767063579,COSV65735674 2569 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42823257-42823257 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs767063579,COSV65735674 2901 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42823257-42823257 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs767063579,COSV65735674 2657 1 - EntrezGene HGNC:23505 - - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:42823277-42823277 A intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 20/22 - - - - - - - rs748936347,COSV65732939 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:42823277-42823277 A intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 20/22 - - - - - - - rs748936347,COSV65732939 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823277-42823277 A intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 20/22 - - - - - - - rs748936347,COSV65732939 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823277-42823277 A intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 20/22 - - - - - - - rs748936347,COSV65732939 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823277-42823277 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 19/21 - - - - - - - rs748936347,COSV65732939 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823277-42823277 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - rs748936347,COSV65732939 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823277-42823277 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs748936347,COSV65732939 2589 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823277-42823277 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs748936347,COSV65732939 2921 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823277-42823277 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs748936347,COSV65732939 2677 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823536-42823536 G intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 20/22 - - - - - - - rs1323681117 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:42823536-42823536 G intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 20/22 - - - - - - - rs1323681117 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823536-42823536 G intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 20/22 - - - - - - - rs1323681117 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823536-42823536 G intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 20/22 - - - - - - - rs1323681117 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823536-42823536 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 19/21 - - - - - - - rs1323681117 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823536-42823536 G intron_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - rs1323681117 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823536-42823536 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs1323681117 2848 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823536-42823536 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs1323681117 3180 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823536-42823536 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs1323681117 2936 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823596-42823602 - splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 20/22 - - - - - - - - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - CT CT - - - - - - - - - - - - - . 10:42823596-42823602 - splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding - 20/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - CT CT - - - - - - - - - - - - - . 10:42823596-42823602 - splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding - 20/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - CT CT - - - - - - - - - - - - - . 10:42823596-42823602 - splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding - 20/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - CT CT - - - - - - - - - - - - - . 10:42823596-42823602 - splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding - 19/21 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - CT CT - - - - - - - - - - - - - . 10:42823596-42823602 - splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding - 19/19 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - CT CT - - - - - - - - - - - - - . 10:42823596-42823602 - downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - - 2913 1 - EntrezGene HGNC:23505 - - - - - RefSeq - CT CT - - - - - - - - - - - - - . 10:42823596-42823602 - downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - - 3245 1 - EntrezGene HGNC:23505 - - - - - RefSeq - CT CT - - - - - - - - - - - - - . 10:42823596-42823602 - downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - - 3001 1 - EntrezGene HGNC:23505 - - - - - RefSeq - CT CT - - - - - - - - - - - - - . 10:42823652-42823652 C synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 21/23 - - - 3393 3324 1108 A gcG/gcC rs112721376,COSV65734554 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - 0,1 1,1 - - - - - - . 10:42823652-42823652 C synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 21/23 - - - 3393 3324 1108 A gcG/gcC rs112721376,COSV65734554 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - 0,1 1,1 - - - - - - . 10:42823652-42823652 C synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 21/23 - - - 3561 3324 1108 A gcG/gcC rs112721376,COSV65734554 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 1,1 - - - - - - . 10:42823652-42823652 C synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 21/23 - - - 3413 3324 1108 A gcG/gcC rs112721376,COSV65734554 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 1,1 - - - - - - . 10:42823652-42823652 C synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 20/22 - - - 3372 3135 1045 A gcG/gcC rs112721376,COSV65734554 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 1,1 - - - - - - . 10:42823652-42823652 C missense_variant MODERATE BMS1 9790 Transcript XM_047426041.1 protein_coding 20/20 - - - 3413 3176 1059 R/P cGt/cCt rs112721376,COSV65734554 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 1,1 - - - - - - . 10:42823652-42823652 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs112721376,COSV65734554 2964 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 1,1 - - - - - - . 10:42823652-42823652 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs112721376,COSV65734554 3296 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 1,1 - - - - - - . 10:42823652-42823652 C downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs112721376,COSV65734554 3052 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 1,1 - - - - - - . 10:42823668-42823668 G missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 21/23 - - - 3409 3340 1114 T/A Aca/Gca - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - A A - deleterious_low_confidence(0.01) benign(0.003) - - - - - - - - - - . 10:42823668-42823668 G missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 21/23 - - - 3409 3340 1114 T/A Aca/Gca - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - A A - deleterious_low_confidence(0.01) benign(0.003) - - - - - - - - - - . 10:42823668-42823668 G missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 21/23 - - - 3577 3340 1114 T/A Aca/Gca - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - deleterious_low_confidence(0.01) benign(0.003) - - - - - - - - - - . 10:42823668-42823668 G missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 21/23 - - - 3429 3340 1114 T/A Aca/Gca - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - deleterious_low_confidence(0.01) benign(0.003) - - - - - - - - - - . 10:42823668-42823668 G missense_variant MODERATE BMS1 9790 Transcript XM_047426040.1 protein_coding 20/22 - - - 3388 3151 1051 T/A Aca/Gca - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823668-42823668 G stop_retained_variant LOW BMS1 9790 Transcript XM_047426041.1 protein_coding 20/20 - - - 3429 3192 1064 * taA/taG - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823668-42823668 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - - 2980 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823668-42823668 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - - 3312 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823668-42823668 G downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - - 3068 1 - EntrezGene HGNC:23505 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:42823716-42823716 T missense_variant MODERATE BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 21/23 - - - 3457 3388 1130 R/W Cgg/Tgg rs138529489,COSV65734102 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - deleterious_low_confidence(0.02) benign(0.003) 0.0020 benign 0,1 1,1 - - - - - - . 10:42823716-42823716 T missense_variant MODERATE BMS1 9790 Transcript NM_014753.4 protein_coding 21/23 - - - 3457 3388 1130 R/W Cgg/Tgg rs138529489,COSV65734102 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - deleterious_low_confidence(0.02) benign(0.003) 0.0020 benign 0,1 1,1 - - - - - - . 10:42823716-42823716 T missense_variant MODERATE BMS1 9790 Transcript XM_005271846.4 protein_coding 21/23 - - - 3625 3388 1130 R/W Cgg/Tgg rs138529489,COSV65734102 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) benign(0.003) 0.0020 benign 0,1 1,1 - - - - - - . 10:42823716-42823716 T missense_variant MODERATE BMS1 9790 Transcript XM_011540402.3 protein_coding 21/23 - - - 3477 3388 1130 R/W Cgg/Tgg rs138529489,COSV65734102 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - deleterious_low_confidence(0.02) benign(0.003) 0.0020 benign 0,1 1,1 - - - - - - . 10:42823716-42823716 T missense_variant MODERATE BMS1 9790 Transcript XM_047426040.1 protein_coding 20/22 - - - 3436 3199 1067 R/W Cgg/Tgg rs138529489,COSV65734102 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0020 benign 0,1 1,1 - - - - - - . 10:42823716-42823716 T 3_prime_UTR_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding 20/20 - - - 3477 - - - - rs138529489,COSV65734102 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0020 benign 0,1 1,1 - - - - - - . 10:42823716-42823716 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs138529489,COSV65734102 3028 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0020 benign 0,1 1,1 - - - - - - . 10:42823716-42823716 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs138529489,COSV65734102 3360 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0020 benign 0,1 1,1 - - - - - - . 10:42823716-42823716 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs138529489,COSV65734102 3116 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - 0.0020 benign 0,1 1,1 - - - - - - . 10:42823748-42823748 T synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 21/23 - - - 3489 3420 1140 G ggC/ggT rs1343505577 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:42823748-42823748 T synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 21/23 - - - 3489 3420 1140 G ggC/ggT rs1343505577 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42823748-42823748 T synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 21/23 - - - 3657 3420 1140 G ggC/ggT rs1343505577 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42823748-42823748 T synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 21/23 - - - 3509 3420 1140 G ggC/ggT rs1343505577 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42823748-42823748 T synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 20/22 - - - 3468 3231 1077 G ggC/ggT rs1343505577 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42823748-42823748 T 3_prime_UTR_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding 20/20 - - - 3509 - - - - rs1343505577 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42823748-42823748 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs1343505577 3060 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42823748-42823748 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs1343505577 3392 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42823748-42823748 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs1343505577 3148 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:42823763-42823763 A synonymous_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding 21/23 - - - 3504 3435 1145 A gcG/gcA rs748554246,COSV65735343 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:42823763-42823763 A synonymous_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding 21/23 - - - 3504 3435 1145 A gcG/gcA rs748554246,COSV65735343 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823763-42823763 A synonymous_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding 21/23 - - - 3672 3435 1145 A gcG/gcA rs748554246,COSV65735343 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823763-42823763 A synonymous_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding 21/23 - - - 3524 3435 1145 A gcG/gcA rs748554246,COSV65735343 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823763-42823763 A synonymous_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding 20/22 - - - 3483 3246 1082 A gcG/gcA rs748554246,COSV65735343 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823763-42823763 A 3_prime_UTR_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding 20/20 - - - 3524 - - - - rs748554246,COSV65735343 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823763-42823763 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs748554246,COSV65735343 3075 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823763-42823763 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs748554246,COSV65735343 3407 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823763-42823763 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs748554246,COSV65735343 3163 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:42823795-42823795 T intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 21/22 - - - - - - - rs910160816,COSV65735514 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:42823795-42823795 T intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 21/22 - - - - - - - rs910160816,COSV65735514 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823795-42823795 T intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 21/22 - - - - - - - rs910160816,COSV65735514 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823795-42823795 T intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 21/22 - - - - - - - rs910160816,COSV65735514 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823795-42823795 T intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 20/21 - - - - - - - rs910160816,COSV65735514 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823795-42823795 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - - - - - - - - - rs910160816,COSV65735514 27 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823795-42823795 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - rs910160816,COSV65735514 3107 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823795-42823795 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - rs910160816,COSV65735514 3439 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823795-42823795 T downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - rs910160816,COSV65735514 3195 1 - EntrezGene HGNC:23505 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:42823808-42823808 A intron_variant MODIFIER BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 21/22 - - - - - - - - - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:42823808-42823808 A intron_variant MODIFIER BMS1 9790 Transcript NM_014753.4 protein_coding - 21/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42823808-42823808 A intron_variant MODIFIER BMS1 9790 Transcript XM_005271846.4 protein_coding - 21/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42823808-42823808 A intron_variant MODIFIER BMS1 9790 Transcript XM_011540402.3 protein_coding - 21/22 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42823808-42823808 A intron_variant MODIFIER BMS1 9790 Transcript XM_047426040.1 protein_coding - 20/21 - - - - - - - - - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42823808-42823808 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426041.1 protein_coding - - - - - - - - - - 40 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42823808-42823808 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426042.1 protein_coding - - - - - - - - - - 3120 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42823808-42823808 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XM_047426043.1 protein_coding - - - - - - - - - - 3452 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42823808-42823808 A downstream_gene_variant MODIFIER BMS1 9790 Transcript XR_007062019.1 misc_RNA - - - - - - - - - - 3208 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42830247-42830247 A splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 ENSG00000165733 Transcript ENST00000374518.6 protein_coding - 21/22 - - - - - - - rs1280425130 - 1 - HGNC HGNC:23505 NM_014753.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:42830247-42830247 A downstream_gene_variant MODIFIER RNU6-885P ENSG00000252416 Transcript ENST00000516607.1 snRNA - - - - - - - - - rs1280425130 2200 -1 - HGNC HGNC:47848 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:42830247-42830247 A splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript NM_014753.4 protein_coding - 21/22 - - - - - - - rs1280425130 - 1 - EntrezGene HGNC:23505 ENST00000374518.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42830247-42830247 A splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_005271846.4 protein_coding - 21/22 - - - - - - - rs1280425130 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42830247-42830247 A splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_011540402.3 protein_coding - 21/22 - - - - - - - rs1280425130 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:42830247-42830247 A splice_polypyrimidine_tract_variant,intron_variant LOW BMS1 9790 Transcript XM_047426040.1 protein_coding - 20/21 - - - - - - - rs1280425130 - 1 - EntrezGene HGNC:23505 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43183527-43183527 C synonymous_variant LOW CSGALNACT2 ENSG00000169826 Transcript ENST00000374466.4 protein_coding 8/8 - - - 1990 1614 538 S agT/agC rs1280212542 - 1 - HGNC HGNC:24292 NM_018590.5 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:43183527-43183527 C 3_prime_UTR_variant MODIFIER CSGALNACT2 55454 Transcript NM_001319654.1 protein_coding 6/6 - - - 1772 - - - - rs1280212542 - 1 - EntrezGene HGNC:24292 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:43183527-43183527 C 3_prime_UTR_variant MODIFIER CSGALNACT2 55454 Transcript NM_001319656.1 protein_coding 5/5 - - - 1593 - - - - rs1280212542 - 1 - EntrezGene HGNC:24292 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:43183527-43183527 C synonymous_variant LOW CSGALNACT2 55454 Transcript NM_018590.5 protein_coding 8/8 - - - 1990 1614 538 S agT/agC rs1280212542 - 1 - EntrezGene HGNC:24292 ENST00000374466.4 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43183527-43183527 C non_coding_transcript_exon_variant MODIFIER CSGALNACT2 55454 Transcript NR_135077.2 misc_RNA 9/9 - - - 2151 - - - - rs1280212542 - 1 - EntrezGene HGNC:24292 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43183527-43183527 C 3_prime_UTR_variant MODIFIER CSGALNACT2 55454 Transcript XM_017016388.3 protein_coding 7/7 - - - 1895 - - - - rs1280212542 - 1 - EntrezGene HGNC:24292 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43183527-43183527 C synonymous_variant LOW CSGALNACT2 55454 Transcript XM_047425438.1 protein_coding 8/8 - - - 2224 1614 538 S agT/agC rs1280212542 - 1 - EntrezGene HGNC:24292 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43183527-43183527 C synonymous_variant LOW CSGALNACT2 55454 Transcript XM_047425439.1 protein_coding 8/8 - - - 2541 1614 538 S agT/agC rs1280212542 - 1 - EntrezGene HGNC:24292 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43183527-43183527 C 3_prime_UTR_variant MODIFIER CSGALNACT2 55454 Transcript XM_047425441.1 protein_coding 7/7 - - - 2312 - - - - rs1280212542 - 1 - EntrezGene HGNC:24292 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 ENSG00000196793 Transcript ENST00000306006.10 protein_coding 2/2 - - - 1278 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - HGNC HGNC:13031 - - 1 P1 - Ensembl - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 ENSG00000196793 Transcript ENST00000374446.7 protein_coding 4/4 - - - 958 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - HGNC HGNC:13031 NM_001099282.2 - 1 P1 - Ensembl - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 ENSG00000196793 Transcript ENST00000426961.1 protein_coding 3/3 - - - 919 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - HGNC HGNC:13031 - - 2 P1 - Ensembl - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C downstream_gene_variant MODIFIER ZNF239 ENSG00000196793 Transcript ENST00000491188.1 protein_coding_CDS_not_defined - - - - - - - - - rs2230661,COSV60018763 74 -1 - HGNC HGNC:13031 - - 2 - - Ensembl - A A - - - 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 ENSG00000196793 Transcript ENST00000535642.5 protein_coding 2/2 - - - 796 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - HGNC HGNC:13031 - - 2 P1 - Ensembl - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript NM_001099282.2 protein_coding 4/4 - - - 958 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 ENST00000374446.7 - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript NM_001099283.2 protein_coding 2/2 - - - 794 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript NM_001099284.2 protein_coding 3/3 - - - 917 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324347.2 protein_coding 3/3 - - - 835 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324348.2 protein_coding 2/2 - - - 863 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324349.2 protein_coding 4/4 - - - 1027 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324350.2 protein_coding 3/3 - - - 904 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324351.2 protein_coding 3/3 - - - 986 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324352.2 protein_coding 4/4 - - - 962 751 251 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.974) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324353.2 protein_coding 5/5 - - - 1067 964 322 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.01) possibly_damaging(0.798) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript NM_005674.3 protein_coding 2/2 - - - 1278 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript XM_006718001.3 protein_coding 2/2 - - - 937 751 251 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - - - 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript XM_006718003.4 protein_coding 2/2 - - - 965 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript XM_011540232.4 protein_coding 3/3 - - - 5283 1057 353 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - - - 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript XM_011540234.3 protein_coding 3/3 - - - 921 751 251 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.974) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript XM_011540235.3 protein_coding 3/3 - - - 990 751 251 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.974) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript XM_011540236.3 protein_coding 3/3 - - - 1093 751 251 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.974) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript XM_011540238.3 protein_coding 2/2 - - - 734 625 209 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.999) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript XM_017016740.2 protein_coding 4/4 - - - 1031 751 251 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.974) 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript XM_047425807.1 protein_coding 5/5 - - - 2947 1057 353 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - - - 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557455-43557455 C missense_variant MODERATE ZNF239 8187 Transcript XM_047425808.1 protein_coding 4/4 - - - 1351 886 296 C/G Tgt/Ggt rs2230661,COSV60018763 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - A A - - - 0.5449 - 0,1 0,1 24968322,16385451 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 ENSG00000196793 Transcript ENST00000306006.10 protein_coding 2/2 - - - 1168 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - HGNC HGNC:13031 - - 1 P1 - Ensembl - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 ENSG00000196793 Transcript ENST00000374446.7 protein_coding 4/4 - - - 848 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - HGNC HGNC:13031 NM_001099282.2 - 1 P1 - Ensembl - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 ENSG00000196793 Transcript ENST00000426961.1 protein_coding 3/3 - - - 809 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - HGNC HGNC:13031 - - 2 P1 - Ensembl - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C non_coding_transcript_exon_variant MODIFIER ZNF239 ENSG00000196793 Transcript ENST00000491188.1 protein_coding_CDS_not_defined 2/2 - - - 665 - - - - rs2230660,COSV60018577 - -1 - HGNC HGNC:13031 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 ENSG00000196793 Transcript ENST00000535642.5 protein_coding 2/2 - - - 686 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - HGNC HGNC:13031 - - 2 P1 - Ensembl - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript NM_001099282.2 protein_coding 4/4 - - - 848 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 ENST00000374446.7 - - - - RefSeq - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript NM_001099283.2 protein_coding 2/2 - - - 684 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript NM_001099284.2 protein_coding 3/3 - - - 807 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324347.2 protein_coding 3/3 - - - 725 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324348.2 protein_coding 2/2 - - - 753 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324349.2 protein_coding 4/4 - - - 917 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324350.2 protein_coding 3/3 - - - 794 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324351.2 protein_coding 3/3 - - - 876 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324352.2 protein_coding 4/4 - - - 852 641 214 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - deleterious(0.01) benign(0.009) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript NM_001324353.2 protein_coding 5/5 - - - 957 854 285 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - deleterious(0.04) benign(0.041) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript NM_005674.3 protein_coding 2/2 - - - 1168 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript XM_006718001.3 protein_coding 2/2 - - - 827 641 214 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - - - - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript XM_006718003.4 protein_coding 2/2 - - - 855 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript XM_011540232.4 protein_coding 3/3 - - - 5173 947 316 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - - - - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript XM_011540234.3 protein_coding 3/3 - - - 811 641 214 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - deleterious(0.01) benign(0.009) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript XM_011540235.3 protein_coding 3/3 - - - 880 641 214 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - deleterious(0.01) benign(0.009) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript XM_011540236.3 protein_coding 3/3 - - - 983 641 214 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - deleterious(0.01) benign(0.009) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript XM_011540238.3 protein_coding 2/2 - - - 624 515 172 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - tolerated(0.07) benign(0.087) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript XM_017016740.2 protein_coding 4/4 - - - 921 641 214 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - deleterious(0.01) benign(0.009) - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript XM_047425807.1 protein_coding 5/5 - - - 2837 947 316 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - - - - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43557565-43557565 C missense_variant MODERATE ZNF239 8187 Transcript XM_047425808.1 protein_coding 4/4 - - - 1241 776 259 A/G gCt/gGt rs2230660,COSV60018577 - -1 - EntrezGene HGNC:13031 - - - - - RefSeq - G G - - - - - 0,1 0,1 24968322,16385451,18091754 - - - - - . 10:43605374-43605374 A upstream_gene_variant MODIFIER ZNF485 ENSG00000198298 Transcript ENST00000361807.8 protein_coding - - - - - - - - - rs1328117624 1064 1 - HGNC HGNC:23440 NM_145312.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:43605374-43605374 A upstream_gene_variant MODIFIER ZNF485 ENSG00000198298 Transcript ENST00000374435.3 protein_coding - - - - - - - - - rs1328117624 1052 1 - HGNC HGNC:23440 - - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:43605374-43605374 A non_coding_transcript_exon_variant MODIFIER CAP1P2 ENSG00000232004 Transcript ENST00000417455.1 processed_pseudogene 1/1 - - - 878 - - - - rs1328117624 - -1 - HGNC HGNC:31970 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43605374-43605374 A upstream_gene_variant MODIFIER ZNF485 ENSG00000198298 Transcript ENST00000430885.5 protein_coding - - - - - - - - - rs1328117624 1045 1 cds_end_NF HGNC HGNC:23440 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:43605374-43605374 A upstream_gene_variant MODIFIER ZNF485 ENSG00000198298 Transcript ENST00000480678.1 retained_intron - - - - - - - - - rs1328117624 1045 1 - HGNC HGNC:23440 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:43605374-43605374 A upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_001318140.2 protein_coding - - - - - - - - - rs1328117624 1064 1 - EntrezGene HGNC:23440 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43605374-43605374 A upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_001318141.2 protein_coding - - - - - - - - - rs1328117624 1064 1 - EntrezGene HGNC:23440 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43605374-43605374 A upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_001318142.2 protein_coding - - - - - - - - - rs1328117624 1064 1 - EntrezGene HGNC:23440 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43605374-43605374 A upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_001318143.2 protein_coding - - - - - - - - - rs1328117624 1064 1 - EntrezGene HGNC:23440 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43605374-43605374 A upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_145312.4 protein_coding - - - - - - - - - rs1328117624 1064 1 - EntrezGene HGNC:23440 ENST00000361807.8 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43605374-43605374 A upstream_gene_variant MODIFIER ZNF485 220992 Transcript XM_011539498.3 protein_coding - - - - - - - - - rs1328117624 3315 1 - EntrezGene HGNC:23440 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43605401-43605401 C upstream_gene_variant MODIFIER ZNF485 ENSG00000198298 Transcript ENST00000361807.8 protein_coding - - - - - - - - - - 1037 1 - HGNC HGNC:23440 NM_145312.4 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:43605401-43605401 C upstream_gene_variant MODIFIER ZNF485 ENSG00000198298 Transcript ENST00000374435.3 protein_coding - - - - - - - - - - 1025 1 - HGNC HGNC:23440 - - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:43605401-43605401 C non_coding_transcript_exon_variant MODIFIER CAP1P2 ENSG00000232004 Transcript ENST00000417455.1 processed_pseudogene 1/1 - - - 851 - - - - - - -1 - HGNC HGNC:31970 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43605401-43605401 C upstream_gene_variant MODIFIER ZNF485 ENSG00000198298 Transcript ENST00000430885.5 protein_coding - - - - - - - - - - 1018 1 cds_end_NF HGNC HGNC:23440 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:43605401-43605401 C upstream_gene_variant MODIFIER ZNF485 ENSG00000198298 Transcript ENST00000480678.1 retained_intron - - - - - - - - - - 1018 1 - HGNC HGNC:23440 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:43605401-43605401 C upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_001318140.2 protein_coding - - - - - - - - - - 1037 1 - EntrezGene HGNC:23440 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43605401-43605401 C upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_001318141.2 protein_coding - - - - - - - - - - 1037 1 - EntrezGene HGNC:23440 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43605401-43605401 C upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_001318142.2 protein_coding - - - - - - - - - - 1037 1 - EntrezGene HGNC:23440 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43605401-43605401 C upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_001318143.2 protein_coding - - - - - - - - - - 1037 1 - EntrezGene HGNC:23440 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43605401-43605401 C upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_145312.4 protein_coding - - - - - - - - - - 1037 1 - EntrezGene HGNC:23440 ENST00000361807.8 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43605401-43605401 C upstream_gene_variant MODIFIER ZNF485 220992 Transcript XM_011539498.3 protein_coding - - - - - - - - - - 3288 1 - EntrezGene HGNC:23440 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43605436-43605436 T upstream_gene_variant MODIFIER ZNF485 ENSG00000198298 Transcript ENST00000361807.8 protein_coding - - - - - - - - - rs1204481749 1002 1 - HGNC HGNC:23440 NM_145312.4 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:43605436-43605436 T upstream_gene_variant MODIFIER ZNF485 ENSG00000198298 Transcript ENST00000374435.3 protein_coding - - - - - - - - - rs1204481749 990 1 - HGNC HGNC:23440 - - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:43605436-43605436 T non_coding_transcript_exon_variant MODIFIER CAP1P2 ENSG00000232004 Transcript ENST00000417455.1 processed_pseudogene 1/1 - - - 816 - - - - rs1204481749 - -1 - HGNC HGNC:31970 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:43605436-43605436 T upstream_gene_variant MODIFIER ZNF485 ENSG00000198298 Transcript ENST00000430885.5 protein_coding - - - - - - - - - rs1204481749 983 1 cds_end_NF HGNC HGNC:23440 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:43605436-43605436 T upstream_gene_variant MODIFIER ZNF485 ENSG00000198298 Transcript ENST00000480678.1 retained_intron - - - - - - - - - rs1204481749 983 1 - HGNC HGNC:23440 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:43605436-43605436 T upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_001318140.2 protein_coding - - - - - - - - - rs1204481749 1002 1 - EntrezGene HGNC:23440 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:43605436-43605436 T upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_001318141.2 protein_coding - - - - - - - - - rs1204481749 1002 1 - EntrezGene HGNC:23440 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:43605436-43605436 T upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_001318142.2 protein_coding - - - - - - - - - rs1204481749 1002 1 - EntrezGene HGNC:23440 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:43605436-43605436 T upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_001318143.2 protein_coding - - - - - - - - - rs1204481749 1002 1 - EntrezGene HGNC:23440 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:43605436-43605436 T upstream_gene_variant MODIFIER ZNF485 220992 Transcript NM_145312.4 protein_coding - - - - - - - - - rs1204481749 1002 1 - EntrezGene HGNC:23440 ENST00000361807.8 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:43605436-43605436 T upstream_gene_variant MODIFIER ZNF485 220992 Transcript XM_011539498.3 protein_coding - - - - - - - - - rs1204481749 3253 1 - EntrezGene HGNC:23440 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:43789323-43789323 G non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 1065 - - - - - - -1 - HGNC HGNC:13729 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789323-43789323 G intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789323-43789323 G intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789323-43789323 G non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 1095 - - - - - - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789323-43789323 G intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789323-43789323 G intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789352-43789352 G non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 1036 - - - - rs853 - -1 - HGNC HGNC:13729 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789352-43789352 G intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - rs853 - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789352-43789352 G intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - rs853 - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789352-43789352 G non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 1066 - - - - rs853 - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789352-43789352 G intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - rs853 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789352-43789352 G intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - rs853 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789381-43789381 A non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 1007 - - - - rs852 - -1 - HGNC HGNC:13729 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43789381-43789381 A intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - rs852 - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43789381-43789381 A intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - rs852 - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43789381-43789381 A non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 1037 - - - - rs852 - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43789381-43789381 A intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - rs852 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43789381-43789381 A intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - rs852 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43789425-43789425 C non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 963 - - - - rs854 - -1 - HGNC HGNC:13729 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789425-43789425 C intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - rs854 - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789425-43789425 C intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - rs854 - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789425-43789425 C non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 993 - - - - rs854 - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789425-43789425 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - rs854 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789425-43789425 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - rs854 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789430-43789430 C non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 958 - - - - rs856 - -1 - HGNC HGNC:13729 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789430-43789430 C intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - rs856 - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789430-43789430 C intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - rs856 - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789430-43789430 C non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 988 - - - - rs856 - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789430-43789430 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - rs856 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789430-43789430 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - rs856 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789876-43789876 A non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 512 - - - - rs1375710436 - -1 - HGNC HGNC:13729 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43789876-43789876 A intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - rs1375710436 - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43789876-43789876 A intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - rs1375710436 - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43789876-43789876 A non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 542 - - - - rs1375710436 - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43789876-43789876 A intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - rs1375710436 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43789876-43789876 A intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - rs1375710436 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43789941-43789941 A non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 447 - - - - rs747992887 - -1 - HGNC HGNC:13729 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43789941-43789941 A intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - rs747992887 - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43789941-43789941 A intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - rs747992887 - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43789941-43789941 A non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 477 - - - - rs747992887 - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43789941-43789941 A intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - rs747992887 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43789941-43789941 A intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - rs747992887 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43789994-43789994 C non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 394 - - - - - - -1 - HGNC HGNC:13729 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789994-43789994 C intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789994-43789994 C intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43789994-43789994 C non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 424 - - - - - - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789994-43789994 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789994-43789994 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43789995-43789995 A non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 393 - - - - - - -1 - HGNC HGNC:13729 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43789995-43789995 A intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43789995-43789995 A intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43789995-43789995 A non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 423 - - - - - - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43789995-43789995 A intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43789995-43789995 A intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43790037-43790037 T non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 351 - - - - - - -1 - HGNC HGNC:13729 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:43790037-43790037 T intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:43790037-43790037 T intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:43790037-43790037 T non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 381 - - - - - - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:43790037-43790037 T intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:43790037-43790037 T intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:43790108-43790108 A non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 280 - - - - rs564794889 - -1 - HGNC HGNC:13729 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43790108-43790108 A intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - rs564794889 - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43790108-43790108 A intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - rs564794889 - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43790108-43790108 A non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 310 - - - - rs564794889 - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43790108-43790108 A intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - rs564794889 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43790108-43790108 A intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - rs564794889 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43790128-43790128 T non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 260 - - - - - - -1 - HGNC HGNC:13729 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43790128-43790128 T intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43790128-43790128 T intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43790128-43790128 T non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 290 - - - - - - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43790128-43790128 T intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43790128-43790128 T intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43790129-43790129 C non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 259 - - - - - - -1 - HGNC HGNC:13729 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43790129-43790129 C intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43790129-43790129 C intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43790129-43790129 C non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 289 - - - - - - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43790129-43790129 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43790129-43790129 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43790195-43790195 C non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 193 - - - - - - -1 - HGNC HGNC:13729 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43790195-43790195 C intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43790195-43790195 C intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:43790195-43790195 C non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 223 - - - - - - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43790195-43790195 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43790195-43790195 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:43790234-43790234 G non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 ENSG00000226790 Transcript ENST00000401429.1 processed_pseudogene 1/1 - - - 154 - - - - - - -1 - HGNC HGNC:13729 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43790234-43790234 G intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000659335.1 lncRNA - 1/4 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43790234-43790234 G intron_variant,non_coding_transcript_variant MODIFIER LINC00840 ENSG00000226808 Transcript ENST00000666323.1 lncRNA - 1/3 - - - - - - - - - 1 - HGNC HGNC:44987 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:43790234-43790234 G non_coding_transcript_exon_variant MODIFIER HNRNPA3P1 10151 Transcript NR_002726.2 transcribed_pseudogene 1/1 - - - 184 - - - - - - -1 - EntrezGene HGNC:13729 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43790234-43790234 G intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945906.4 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:43790234-43790234 G intron_variant,non_coding_transcript_variant MODIFIER LOC105378275 105378275 Transcript XR_945907.2 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:44414660-44414660 G non_coding_transcript_exon_variant MODIFIER RPL9P21 ENSG00000214089 Transcript ENST00000392269.2 processed_pseudogene 1/1 - - - 494 - - - - rs912157808 - -1 - HGNC HGNC:35886 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:44414728-44414728 C non_coding_transcript_exon_variant MODIFIER RPL9P21 ENSG00000214089 Transcript ENST00000392269.2 processed_pseudogene 1/1 - - - 426 - - - - - - -1 - HGNC HGNC:35886 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:44414773-44414773 G non_coding_transcript_exon_variant MODIFIER RPL9P21 ENSG00000214089 Transcript ENST00000392269.2 processed_pseudogene 1/1 - - - 381 - - - - - - -1 - HGNC HGNC:35886 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:44414873-44414873 C non_coding_transcript_exon_variant MODIFIER RPL9P21 ENSG00000214089 Transcript ENST00000392269.2 processed_pseudogene 1/1 - - - 281 - - - - - - -1 - HGNC HGNC:35886 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:44414886-44414886 C non_coding_transcript_exon_variant MODIFIER RPL9P21 ENSG00000214089 Transcript ENST00000392269.2 processed_pseudogene 1/1 - - - 268 - - - - - - -1 - HGNC HGNC:35886 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:45107052-45107052 A non_coding_transcript_exon_variant MODIFIER - ENSG00000290529 Transcript ENST00000423875.1 retained_intron 1/2 - - - 937 - - - - rs12413346 - -1 - - - - - 2 - - Ensembl - G G - - - 0.4503 - - - - - - - - - . 10:45107052-45107052 A non_coding_transcript_exon_variant MODIFIER RSU1P2 ENSG00000232554 Transcript ENST00000437884.1 transcribed_unprocessed_pseudogene 3/4 - - - 313 - - - - rs12413346 - -1 - HGNC HGNC:44391 - - - - - Ensembl - G G - - - 0.4503 - - - - - - - - - . 10:45107052-45107052 A non_coding_transcript_exon_variant MODIFIER - ENSG00000290529 Transcript ENST00000448600.5 lncRNA 5/7 - - - 399 - - - - rs12413346 - -1 - - - - - 1 - - Ensembl - G G - - - 0.4503 - - - - - - - - - . 10:45107052-45107052 A non_coding_transcript_exon_variant MODIFIER - ENSG00000290529 Transcript ENST00000619977.1 lncRNA 7/9 - - - 654 - - - - rs12413346 - -1 - - - - - 1 - - Ensembl - G G - - - 0.4503 - - - - - - - - - . 10:45107052-45107052 A non_coding_transcript_exon_variant MODIFIER - ENSG00000290529 Transcript ENST00000661630.1 lncRNA 4/6 - - - 337 - - - - rs12413346 - -1 - - - - - - - - Ensembl - G G - - - 0.4503 - - - - - - - - - . 10:45107052-45107052 A non_coding_transcript_exon_variant MODIFIER RSU1P2 100133308 Transcript NR_024472.1 transcribed_pseudogene 7/9 - - - 654 - - - - rs12413346 - -1 - EntrezGene HGNC:44391 - - - - - RefSeq - G G OK - - 0.4503 - - - - - - - - - . 10:45156803-45156803 C upstream_gene_variant MODIFIER ANKRD54P1 ENSG00000236442 Transcript ENST00000433115.1 processed_pseudogene - - - - - - - - - rs3862884 4888 -1 - HGNC HGNC:39214 - - - - - Ensembl - T T - - - 0.6695 - - - - - - - - - . 10:45156803-45156803 C non_coding_transcript_exon_variant MODIFIER ANKRD30BP3 ENSG00000230501 Transcript ENST00000444850.1 unprocessed_pseudogene 1/7 - - - 29 - - - - rs3862884 - 1 - HGNC HGNC:27873 - - - - - Ensembl - T T - - - 0.6695 - - - - - - - - - . 10:45156803-45156803 C upstream_gene_variant MODIFIER - ENSG00000290529 Transcript ENST00000619977.1 lncRNA - - - - - - - - - rs3862884 2207 -1 - - - - - 1 - - Ensembl - T T - - - 0.6695 - - - - - - - - - . 10:45156803-45156803 C upstream_gene_variant MODIFIER - ENSG00000290529 Transcript ENST00000661630.1 lncRNA - - - - - - - - - rs3862884 2197 -1 - - - - - - - - Ensembl - T T - - - 0.6695 - - - - - - - - - . 10:45156803-45156803 C upstream_gene_variant MODIFIER RSU1P2 100133308 Transcript NR_024472.1 transcribed_pseudogene - - - - - - - - - rs3862884 2207 -1 - EntrezGene HGNC:44391 - - - - - RefSeq - T T OK - - 0.6695 - - - - - - - - - . 10:45156803-45156803 C non_coding_transcript_exon_variant MODIFIER ANKRD30BP3 338579 Transcript NR_033891.1 transcribed_pseudogene 2/8 - - - 223 - - - - rs3862884 - 1 - EntrezGene HGNC:27873 - - - - - RefSeq - T T OK - - 0.6695 - - - - - - - - - . 10:45156803-45156803 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000402352 open_chromatin_region - - - - - - - - - rs3862884 - - - - - - - - - - - - - - - - - 0.6695 - - - - - - - - - . 10:45156999-45156999 G non_coding_transcript_exon_variant MODIFIER ANKRD30BP3 ENSG00000230501 Transcript ENST00000444850.1 unprocessed_pseudogene 1/7 - - - 225 - - - - rs3844164 - 1 - HGNC HGNC:27873 - - - - - Ensembl - A A - - - 0.7071 - - - - - - - - - . 10:45156999-45156999 G upstream_gene_variant MODIFIER - ENSG00000290529 Transcript ENST00000619977.1 lncRNA - - - - - - - - - rs3844164 2403 -1 - - - - - 1 - - Ensembl - A A - - - 0.7071 - - - - - - - - - . 10:45156999-45156999 G upstream_gene_variant MODIFIER - ENSG00000290529 Transcript ENST00000661630.1 lncRNA - - - - - - - - - rs3844164 2393 -1 - - - - - - - - Ensembl - A A - - - 0.7071 - - - - - - - - - . 10:45156999-45156999 G upstream_gene_variant MODIFIER RSU1P2 100133308 Transcript NR_024472.1 transcribed_pseudogene - - - - - - - - - rs3844164 2403 -1 - EntrezGene HGNC:44391 - - - - - RefSeq - A A OK - - 0.7071 - - - - - - - - - . 10:45156999-45156999 G non_coding_transcript_exon_variant MODIFIER ANKRD30BP3 338579 Transcript NR_033891.1 transcribed_pseudogene 2/8 - - - 419 - - - - rs3844164 - 1 - EntrezGene HGNC:27873 - - - - - RefSeq - A A OK - - 0.7071 - - - - - - - - - . 10:45156999-45156999 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000402352 open_chromatin_region - - - - - - - - - rs3844164 - - - - - - - - - - - - - - - - - 0.7071 - - - - - - - - - . 10:45190030-45190030 T upstream_gene_variant MODIFIER RNU6-1207P ENSG00000207071 Transcript ENST00000384343.1 snRNA - - - - - - - - - - 1134 -1 - HGNC HGNC:48170 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:45190030-45190030 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000278531 Transcript ENST00000619383.1 unprocessed_pseudogene - 4/4 - - - - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:45190030-45190030 T downstream_gene_variant MODIFIER ANKRD30BP3 338579 Transcript NR_033891.1 transcribed_pseudogene - - - - - - - - - - 3989 1 - EntrezGene HGNC:27873 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:45190030-45190030 T downstream_gene_variant MODIFIER LOC105378283 105378283 Transcript XR_001747443.2 lncRNA - - - - - - - - - - 1455 -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:45190064-45190064 C upstream_gene_variant MODIFIER RNU6-1207P ENSG00000207071 Transcript ENST00000384343.1 snRNA - - - - - - - - - - 1168 -1 - HGNC HGNC:48170 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:45190064-45190064 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000278531 Transcript ENST00000619383.1 unprocessed_pseudogene - 4/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:45190064-45190064 C downstream_gene_variant MODIFIER ANKRD30BP3 338579 Transcript NR_033891.1 transcribed_pseudogene - - - - - - - - - - 4023 1 - EntrezGene HGNC:27873 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:45190064-45190064 C downstream_gene_variant MODIFIER LOC105378283 105378283 Transcript XR_001747443.2 lncRNA - - - - - - - - - - 1421 -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45190215-45190215 G upstream_gene_variant MODIFIER RNU6-1207P ENSG00000207071 Transcript ENST00000384343.1 snRNA - - - - - - - - - - 1319 -1 - HGNC HGNC:48170 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:45190215-45190215 G non_coding_transcript_exon_variant MODIFIER - ENSG00000278531 Transcript ENST00000619383.1 unprocessed_pseudogene 4/5 - - - 531 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:45190215-45190215 G downstream_gene_variant MODIFIER ANKRD30BP3 338579 Transcript NR_033891.1 transcribed_pseudogene - - - - - - - - - - 4174 1 - EntrezGene HGNC:27873 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:45190215-45190215 G downstream_gene_variant MODIFIER LOC105378283 105378283 Transcript XR_001747443.2 lncRNA - - - - - - - - - - 1270 -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:45190219-45190219 A upstream_gene_variant MODIFIER RNU6-1207P ENSG00000207071 Transcript ENST00000384343.1 snRNA - - - - - - - - - - 1323 -1 - HGNC HGNC:48170 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:45190219-45190219 A non_coding_transcript_exon_variant MODIFIER - ENSG00000278531 Transcript ENST00000619383.1 unprocessed_pseudogene 4/5 - - - 527 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:45190219-45190219 A downstream_gene_variant MODIFIER ANKRD30BP3 338579 Transcript NR_033891.1 transcribed_pseudogene - - - - - - - - - - 4178 1 - EntrezGene HGNC:27873 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:45190219-45190219 A downstream_gene_variant MODIFIER LOC105378283 105378283 Transcript XR_001747443.2 lncRNA - - - - - - - - - - 1266 -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:45190267-45190267 A upstream_gene_variant MODIFIER RNU6-1207P ENSG00000207071 Transcript ENST00000384343.1 snRNA - - - - - - - - - - 1371 -1 - HGNC HGNC:48170 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:45190267-45190267 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW - ENSG00000278531 Transcript ENST00000619383.1 unprocessed_pseudogene - 3/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:45190267-45190267 A downstream_gene_variant MODIFIER ANKRD30BP3 338579 Transcript NR_033891.1 transcribed_pseudogene - - - - - - - - - - 4226 1 - EntrezGene HGNC:27873 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:45190267-45190267 A downstream_gene_variant MODIFIER LOC105378283 105378283 Transcript XR_001747443.2 lncRNA - - - - - - - - - - 1218 -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45190278-45190278 A upstream_gene_variant MODIFIER RNU6-1207P ENSG00000207071 Transcript ENST00000384343.1 snRNA - - - - - - - - - - 1382 -1 - HGNC HGNC:48170 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:45190278-45190278 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000278531 Transcript ENST00000619383.1 unprocessed_pseudogene - 3/4 - - - - - - - - - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:45190278-45190278 A downstream_gene_variant MODIFIER ANKRD30BP3 338579 Transcript NR_033891.1 transcribed_pseudogene - - - - - - - - - - 4237 1 - EntrezGene HGNC:27873 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:45190278-45190278 A downstream_gene_variant MODIFIER LOC105378283 105378283 Transcript XR_001747443.2 lncRNA - - - - - - - - - - 1207 -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45194134-45194134 A splice_region_variant,intron_variant,non_coding_transcript_variant LOW - ENSG00000278531 Transcript ENST00000619383.1 unprocessed_pseudogene - 2/4 - - - - - - - rs10732899 - -1 - - - - - - - - Ensembl - G G - - - 0.5030 - - - - - - - - - . 10:45194134-45194134 A splice_region_variant,intron_variant,non_coding_transcript_variant LOW LOC105378283 105378283 Transcript XR_001747443.2 lncRNA - 4/5 - - - - - - - rs10732899 - -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.5030 - - - - - - - - - . 10:45194227-45194227 A non_coding_transcript_exon_variant MODIFIER - ENSG00000278531 Transcript ENST00000619383.1 unprocessed_pseudogene 2/5 - - - 235 - - - - rs1348634761 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:45194227-45194227 A non_coding_transcript_exon_variant MODIFIER LOC105378283 105378283 Transcript XR_001747443.2 lncRNA 4/6 - - - 508 - - - - rs1348634761 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45194290-45194290 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000278531 Transcript ENST00000619383.1 unprocessed_pseudogene - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:45194290-45194290 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378283 105378283 Transcript XR_001747443.2 lncRNA - 3/5 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45194319-45194319 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000278531 Transcript ENST00000619383.1 unprocessed_pseudogene - 1/4 - - - - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:45194319-45194319 G intron_variant,non_coding_transcript_variant MODIFIER LOC105378283 105378283 Transcript XR_001747443.2 lncRNA - 3/5 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 ENSG00000165406 Transcript ENST00000319836.7 protein_coding 7/7 - - - 1546 796 266 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - HGNC HGNC:23356 - - 1 P1 - Ensembl - A A - tolerated_low_confidence(0.22) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 ENSG00000165406 Transcript ENST00000395769.6 protein_coding 7/7 - - - 1035 796 266 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - HGNC HGNC:23356 - - 1 P1 - Ensembl - A A - tolerated_low_confidence(0.22) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 ENSG00000165406 Transcript ENST00000453424.7 protein_coding 8/8 - - - 1881 1642 548 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - HGNC HGNC:23356 NM_001282866.2 - 1 - - Ensembl - A A - tolerated(0.15) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G downstream_gene_variant MODIFIER MARCHF8 ENSG00000165406 Transcript ENST00000453980.3 protein_coding - - - - - - - - - rs7908745,COSV60572480 3068 -1 cds_end_NF HGNC HGNC:23356 - - 5 - - Ensembl - A A - - - 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G non_coding_transcript_exon_variant MODIFIER MARCHF8 ENSG00000165406 Transcript ENST00000476962.1 protein_coding_CDS_not_defined 3/3 - - - 1347 - - - - rs7908745,COSV60572480 - -1 - HGNC HGNC:23356 - - 2 - - Ensembl - A A - - - 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G downstream_gene_variant MODIFIER MARCHF8 ENSG00000165406 Transcript ENST00000602712.2 retained_intron - - - - - - - - - rs7908745,COSV60572480 2764 -1 - HGNC HGNC:23356 - - 2 - - Ensembl - A A - - - 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript NM_001002266.3 protein_coding 7/7 - - - 1035 796 266 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated_low_confidence(0.22) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript NM_001282866.2 protein_coding 8/8 - - - 1881 1642 548 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 ENST00000453424.7 - - - - RefSeq - A A - tolerated(0.15) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript NM_001401645.1 protein_coding 9/9 - - - 2486 1642 548 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated(0.15) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript NM_001401646.1 protein_coding 8/8 - - - 2393 1642 548 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated(0.15) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript NM_145021.6 protein_coding 7/7 - - - 1547 796 266 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated_low_confidence(0.22) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript XM_011539492.4 protein_coding 9/9 - - - 2444 1642 548 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated(0.15) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript XM_011539495.2 protein_coding 7/7 - - - 943 796 266 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated_low_confidence(0.22) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript XM_047424763.1 protein_coding 9/9 - - - 1907 1642 548 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated(0.15) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript XM_047424764.1 protein_coding 10/10 - - - 2685 1642 548 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated(0.15) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript XM_047424765.1 protein_coding 9/9 - - - 2634 1642 548 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated(0.15) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript XM_047424766.1 protein_coding 8/8 - - - 1814 1642 548 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated(0.15) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript XM_047424767.1 protein_coding 8/8 - - - 1061 796 266 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated_low_confidence(0.22) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript XM_047424768.1 protein_coding 8/8 - - - 1598 796 266 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated_low_confidence(0.22) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G missense_variant MODERATE MARCHF8 220972 Transcript XM_047424769.1 protein_coding 9/9 - - - 1839 796 266 Y/H Tat/Cat rs7908745,COSV60572480 - -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - tolerated_low_confidence(0.22) benign(0) 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45458319-45458319 G downstream_gene_variant MODIFIER MARCHF8 220972 Transcript XR_007061947.1 misc_RNA - - - - - - - - - rs7908745,COSV60572480 859 -1 - EntrezGene HGNC:23356 - - - - - RefSeq - A A - - - 0.3029 - 0,1 1,1 16385451,27863252,32888493,32493714,32888494,34038024,34887591 - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 ENSG00000172671 Transcript ENST00000344646.10 protein_coding 9/10 - - - 2630 1990 664 T/A Aca/Gca rs199784160,COSV60860869 - -1 - HGNC HGNC:23504 NM_174890.4 - 1 P1 - Ensembl - T T - tolerated(0.56) benign(0.037) 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 ENSG00000172671 Transcript ENST00000374366.7 protein_coding 10/11 - - - 2692 1768 590 T/A Aca/Gca rs199784160,COSV60860869 - -1 - HGNC HGNC:23504 - - 1 - - Ensembl - T T - tolerated(0.67) benign(0.037) 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C non_coding_transcript_exon_variant MODIFIER ZFAND4 ENSG00000172671 Transcript ENST00000374370.1 protein_coding_CDS_not_defined 6/7 - - - 1710 - - - - rs199784160,COSV60860869 - -1 - HGNC HGNC:23504 - - 2 - - Ensembl - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 ENSG00000172671 Transcript ENST00000374371.6 protein_coding 6/7 - - - 1252 632 211 N/S aAc/aGc rs199784160,COSV60860869 - -1 - HGNC HGNC:23504 - - 5 - - Ensembl - T T - deleterious_low_confidence(0.02) unknown(0) 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C non_coding_transcript_exon_variant MODIFIER ZFAND4 ENSG00000172671 Transcript ENST00000484333.1 protein_coding_CDS_not_defined 2/2 - - - 211 - - - - rs199784160,COSV60860869 - -1 - HGNC HGNC:23504 - - 3 - - Ensembl - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript NM_001128324.2 protein_coding 9/10 - - - 2242 1990 664 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - tolerated(0.56) benign(0.037) 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript NM_001282905.1 protein_coding 10/11 - - - 2692 1768 590 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - tolerated(0.67) benign(0.037) 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript NM_001282906.1 protein_coding 10/11 - - - 2344 1768 590 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - tolerated(0.67) benign(0.037) 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript NM_174890.4 protein_coding 9/10 - - - 2630 1990 664 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 ENST00000344646.10 - - - - RefSeq - T T - tolerated(0.56) benign(0.037) 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_011540366.3 protein_coding 7/8 - - - 2724 2014 672 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_011540368.2 protein_coding 6/7 - - - 1631 1474 492 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_017016931.2 protein_coding 7/8 - - - 2205 2032 678 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_017016933.3 protein_coding 9/10 - - - 2260 2008 670 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C downstream_gene_variant MODIFIER ZFAND4 93550 Transcript XM_017016935.2 protein_coding - - - - - - - - - rs199784160,COSV60860869 11 -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_017016939.3 protein_coding 7/8 - - - 2098 1846 616 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_017016940.3 protein_coding 9/10 - - - 2016 1786 596 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_047426008.1 protein_coding 9/10 - - - 2886 2176 726 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_047426009.1 protein_coding 9/10 - - - 2868 2158 720 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_047426010.1 protein_coding 10/11 - - - 2715 2008 670 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_047426011.1 protein_coding 10/11 - - - 2693 2008 670 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_047426012.1 protein_coding 9/10 - - - 2500 2008 670 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C downstream_gene_variant MODIFIER ZFAND4 93550 Transcript XM_047426013.1 protein_coding - - - - - - - - - rs199784160,COSV60860869 11 -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_047426014.1 protein_coding 7/8 - - - 2464 1846 616 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C downstream_gene_variant MODIFIER ZFAND4 93550 Transcript XM_047426015.1 protein_coding - - - - - - - - - rs199784160,COSV60860869 11 -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_047426016.1 protein_coding 7/8 - - - 1858 1711 571 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C missense_variant MODERATE ZFAND4 93550 Transcript XM_047426017.1 protein_coding 9/10 - - - 2220 2008 670 T/A Aca/Gca rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C 3_prime_UTR_variant MODIFIER ZFAND4 93550 Transcript XM_047426018.1 protein_coding 7/7 - - - 1032 - - - - rs199784160,COSV60860869 - -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45618198-45618198 C downstream_gene_variant MODIFIER ZFAND4 93550 Transcript XR_001747259.2 misc_RNA - - - - - - - - - rs199784160,COSV60860869 11 -1 - EntrezGene HGNC:23504 - - - - - RefSeq - T T - - - 0.0004 - 0,1 0,1 - - - - - - . 10:45678880-45678880 A non_coding_transcript_exon_variant MODIFIER AGAP10P ENSG00000230869 Transcript ENST00000454844.1 unprocessed_pseudogene 1/7 - - - 189 - - - - rs35963845 - 1 - HGNC HGNC:23659 - - - - - Ensembl - G G - - - 0.2454 - - - 18091754 - - - - - . 10:45678880-45678880 A non_coding_transcript_exon_variant MODIFIER AGAP10P 653234 Transcript NR_160521.1 transcribed_pseudogene 1/8 - - - 365 - - - - rs35963845 - 1 - EntrezGene HGNC:23659 - - - - - RefSeq - G G - - - 0.2454 - - - 18091754 - - - - - . 10:45678921-45678921 G non_coding_transcript_exon_variant MODIFIER AGAP10P ENSG00000230869 Transcript ENST00000454844.1 unprocessed_pseudogene 1/7 - - - 230 - - - - rs199758363 - 1 - HGNC HGNC:23659 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:45678921-45678921 G non_coding_transcript_exon_variant MODIFIER AGAP10P 653234 Transcript NR_160521.1 transcribed_pseudogene 1/8 - - - 406 - - - - rs199758363 - 1 - EntrezGene HGNC:23659 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45679039-45679039 T splice_region_variant,non_coding_transcript_exon_variant LOW AGAP10P ENSG00000230869 Transcript ENST00000454844.1 unprocessed_pseudogene 1/7 - - - 348 - - - - rs371519816 - 1 - HGNC HGNC:23659 - - - - - Ensembl - A A - - - 0.0150 - - - - - - - - - . 10:45679039-45679039 T splice_region_variant,non_coding_transcript_exon_variant LOW AGAP10P 653234 Transcript NR_160521.1 transcribed_pseudogene 1/8 - - - 524 - - - - rs371519816 - 1 - EntrezGene HGNC:23659 - - - - - RefSeq - A A - - - 0.0150 - - - - - - - - - . 10:45684367-45684367 A intron_variant,non_coding_transcript_variant MODIFIER AGAP10P ENSG00000230869 Transcript ENST00000454844.1 unprocessed_pseudogene - 2/6 - - - - - - - rs181354864 - 1 - HGNC HGNC:23659 - - - - - Ensembl - T T - - - 0.0184 - - - - - - - - - . 10:45684367-45684367 A intron_variant,non_coding_transcript_variant MODIFIER AGAP10P 653234 Transcript NR_160521.1 transcribed_pseudogene - 3/7 - - - - - - - rs181354864 - 1 - EntrezGene HGNC:23659 - - - - - RefSeq - T T - - - 0.0184 - - - - - - - - - . 10:45691925-45691925 T intron_variant,non_coding_transcript_variant MODIFIER AGAP10P ENSG00000230869 Transcript ENST00000454844.1 unprocessed_pseudogene - 3/6 - - - - - - - rs201232129 - 1 - HGNC HGNC:23659 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:45691925-45691925 T intron_variant,non_coding_transcript_variant MODIFIER AGAP10P 653234 Transcript NR_160521.1 transcribed_pseudogene - 4/7 - - - - - - - rs201232129 - 1 - EntrezGene HGNC:23659 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:45692093-45692093 C non_coding_transcript_exon_variant MODIFIER AGAP10P ENSG00000230869 Transcript ENST00000454844.1 unprocessed_pseudogene 4/7 - - - 488 - - - - rs61855778 - 1 - HGNC HGNC:23659 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:45692093-45692093 C non_coding_transcript_exon_variant MODIFIER AGAP10P 653234 Transcript NR_160521.1 transcribed_pseudogene 5/8 - - - 733 - - - - rs61855778 - 1 - EntrezGene HGNC:23659 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45692100-45692100 C non_coding_transcript_exon_variant MODIFIER AGAP10P ENSG00000230869 Transcript ENST00000454844.1 unprocessed_pseudogene 4/7 - - - 495 - - - - rs112197233 - 1 - HGNC HGNC:23659 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:45692100-45692100 C non_coding_transcript_exon_variant MODIFIER AGAP10P 653234 Transcript NR_160521.1 transcribed_pseudogene 5/8 - - - 740 - - - - rs112197233 - 1 - EntrezGene HGNC:23659 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45697953-45697953 A intron_variant,non_coding_transcript_variant MODIFIER AGAP10P ENSG00000230869 Transcript ENST00000454844.1 unprocessed_pseudogene - 5/6 - - - - - - - rs144958732 - 1 - HGNC HGNC:23659 - - - - - Ensembl - G G - - - 0.0166 - - - - - - - - - . 10:45697953-45697953 A intron_variant,non_coding_transcript_variant MODIFIER AGAP10P 653234 Transcript NR_160521.1 transcribed_pseudogene - 6/7 - - - - - - - rs144958732 - 1 - EntrezGene HGNC:23659 - - - - - RefSeq - G G - - - 0.0166 - - - - - - - - - . 10:45697968-45697968 A intron_variant,non_coding_transcript_variant MODIFIER AGAP10P ENSG00000230869 Transcript ENST00000454844.1 unprocessed_pseudogene - 5/6 - - - - - - - rs118119694 - 1 - HGNC HGNC:23659 - - - - - Ensembl - G G - - - 0.0166 - - - - - - - - - . 10:45697968-45697968 A intron_variant,non_coding_transcript_variant MODIFIER AGAP10P 653234 Transcript NR_160521.1 transcribed_pseudogene - 6/7 - - - - - - - rs118119694 - 1 - EntrezGene HGNC:23659 - - - - - RefSeq - G G - - - 0.0166 - - - - - - - - - . 10:45699203-45699203 A non_coding_transcript_exon_variant MODIFIER AGAP10P ENSG00000230869 Transcript ENST00000454844.1 unprocessed_pseudogene 7/7 - - - 1089 - - - - rs77939837 - 1 - HGNC HGNC:23659 - - - - - Ensembl - C C - - - 0.3163 - - - - - - - - - . 10:45699203-45699203 A non_coding_transcript_exon_variant MODIFIER AGAP10P 653234 Transcript NR_160521.1 transcribed_pseudogene 8/8 - - - 1334 - - - - rs77939837 - 1 - EntrezGene HGNC:23659 - - - - - RefSeq - C C - - - 0.3163 - - - - - - - - - . 10:45699204-45699204 T non_coding_transcript_exon_variant MODIFIER AGAP10P ENSG00000230869 Transcript ENST00000454844.1 unprocessed_pseudogene 7/7 - - - 1090 - - - - rs75909868 - 1 - HGNC HGNC:23659 - - - - - Ensembl - C C - - - 0.3163 - - - - - - - - - . 10:45699204-45699204 T non_coding_transcript_exon_variant MODIFIER AGAP10P 653234 Transcript NR_160521.1 transcribed_pseudogene 8/8 - - - 1335 - - - - rs75909868 - 1 - EntrezGene HGNC:23659 - - - - - RefSeq - C C - - - 0.3163 - - - - - - - - - . 10:45699947-45699947 T non_coding_transcript_exon_variant MODIFIER AGAP10P ENSG00000230869 Transcript ENST00000454844.1 unprocessed_pseudogene 7/7 - - - 1833 - - - - rs183782916 - 1 - HGNC HGNC:23659 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:45699947-45699947 T downstream_gene_variant MODIFIER AGAP10P 653234 Transcript NR_160521.1 transcribed_pseudogene - - - - - - - - - rs183782916 566 1 - EntrezGene HGNC:23659 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:45708847-45708847 G non_coding_transcript_exon_variant MODIFIER FAM21FP ENSG00000237840 Transcript ENST00000426241.5 transcribed_unprocessed_pseudogene 10/11 - - - 918 - - - - rs148880690 - -1 - HGNC HGNC:45011 - - - - - Ensembl - A A - - - 0.0164 - - - - - - - - - . 10:45719283-45719283 A intron_variant,non_coding_transcript_variant MODIFIER FAM21FP ENSG00000237840 Transcript ENST00000426241.5 transcribed_unprocessed_pseudogene - 5/10 - - - - - - - rs11239594 - -1 - HGNC HGNC:45011 - - - - - Ensembl - G G - - - 0.1825 - - - - - - - - - . 10:45719283-45719283 A downstream_gene_variant MODIFIER - ENSG00000290460 Transcript ENST00000608163.1 lncRNA - - - - - - - - - rs11239594 626 -1 - - - - - 3 - - Ensembl - G G - - - 0.1825 - - - - - - - - - . 10:45719283-45719283 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290460 Transcript ENST00000608251.5 lncRNA - 4/4 - - - - - - - rs11239594 - -1 - - - - - 4 - - Ensembl - G G - - - 0.1825 - - - - - - - - - . 10:45719983-45719983 G intron_variant,non_coding_transcript_variant MODIFIER FAM21FP ENSG00000237840 Transcript ENST00000426241.5 transcribed_unprocessed_pseudogene - 3/10 - - - - - - - rs2442927 - -1 - HGNC HGNC:45011 - - - - - Ensembl - A A - - - 0.5907 - - - - - - - - - . 10:45719983-45719983 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290460 Transcript ENST00000608163.1 lncRNA - 3/3 - - - - - - - rs2442927 - -1 - - - - - 3 - - Ensembl - A A - - - 0.5907 - - - - - - - - - . 10:45719983-45719983 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290460 Transcript ENST00000608251.5 lncRNA - 2/4 - - - - - - - rs2442927 - -1 - - - - - 4 - - Ensembl - A A - - - 0.5907 - - - - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C ENSG00000172661 Transcript ENST00000359860.7 protein_coding - 6/28 - - - - - - - rs2446526,COSV60491515 - 1 - HGNC HGNC:23414 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C ENSG00000172661 Transcript ENST00000374362.6 protein_coding - 7/29 - - - - - - - rs2446526,COSV60491515 - 1 - HGNC HGNC:23414 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C ENSG00000172661 Transcript ENST00000420848.3 protein_coding - 6/9 - - - - - - - rs2446526,COSV60491515 - 1 cds_end_NF HGNC HGNC:23414 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C downstream_gene_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000485850.1 retained_intron - - - - - - - - - rs2446526,COSV60491515 1647 1 - HGNC HGNC:23414 - - 3 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C ENSG00000172661 Transcript ENST00000537517.6 protein_coding - 7/27 - - - - - - - rs2446526,COSV60491515 - 1 - HGNC HGNC:23414 - - 2 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C ENSG00000172661 Transcript ENST00000540872.6 protein_coding - 7/28 - - - - - - - rs2446526,COSV60491515 - 1 - HGNC HGNC:23414 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C ENSG00000172661 Transcript ENST00000623400.4 protein_coding - 7/30 - - - - - - - rs2446526,COSV60491515 - 1 - HGNC HGNC:23414 NM_001330074.2 - 1 P1 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001169106.2 protein_coding - 7/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001169107.2 protein_coding - 7/27 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001330074.2 protein_coding - 7/30 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 ENST00000623400.4 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367393.1 protein_coding - 7/29 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367394.1 protein_coding - 7/27 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367395.1 protein_coding - 7/30 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367396.1 protein_coding - 7/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367397.1 protein_coding - 7/31 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367398.1 protein_coding - 8/30 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367399.1 protein_coding - 7/27 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367400.1 protein_coding - 7/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367401.1 protein_coding - 7/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367402.1 protein_coding - 8/30 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367403.1 protein_coding - 7/29 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367404.1 protein_coding - 7/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367405.1 protein_coding - 8/30 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367406.1 protein_coding - 7/29 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367407.1 protein_coding - 9/31 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367408.1 protein_coding - 7/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367409.1 protein_coding - 7/29 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367410.1 protein_coding - 7/29 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367411.1 protein_coding - 7/30 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367412.1 protein_coding - 8/31 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367413.1 protein_coding - 7/27 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367414.1 protein_coding - 8/30 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367415.1 protein_coding - 7/26 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_001367416.1 protein_coding - 7/27 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript NM_015262.3 protein_coding - 7/29 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW WASHC2C 253725 Transcript NR_159966.1 misc_RNA - 8/32 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_011539568.3 protein_coding - 7/29 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_011539569.3 protein_coding - 7/29 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_011539570.4 protein_coding - 6/29 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_011539572.3 protein_coding - 7/21 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_017016014.3 protein_coding - 7/29 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_017016017.3 protein_coding - 7/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424941.1 protein_coding - 7/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424942.1 protein_coding - 7/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424943.1 protein_coding - 7/27 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424944.1 protein_coding - 6/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424945.1 protein_coding - 7/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424946.1 protein_coding - 6/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424947.1 protein_coding - 6/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424948.1 protein_coding - 7/27 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424949.1 protein_coding - 7/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424950.1 protein_coding - 7/27 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424951.1 protein_coding - 6/27 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424952.1 protein_coding - 7/27 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424953.1 protein_coding - 7/27 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424954.1 protein_coding - 7/26 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424955.1 protein_coding - 7/27 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424956.1 protein_coding - 7/26 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746590-45746590 C splice_polypyrimidine_tract_variant,intron_variant LOW WASHC2C 253725 Transcript XM_047424957.1 protein_coding - 5/28 - - - - - - - rs2446526,COSV60491515 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C ENSG00000172661 Transcript ENST00000359860.7 protein_coding 7/29 - - - 684 563 188 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - HGNC HGNC:23414 - - 5 - - Ensembl - A A - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C ENSG00000172661 Transcript ENST00000374362.6 protein_coding 8/30 - - - 830 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - HGNC HGNC:23414 - - 1 - - Ensembl - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C ENSG00000172661 Transcript ENST00000420848.3 protein_coding 7/10 - - - 596 566 189 Q/R cAg/cGg rs2257402,COSV60491525 - 1 cds_end_NF HGNC HGNC:23414 - - 5 - - Ensembl - A A - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G downstream_gene_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000485850.1 retained_intron - - - - - - - - - rs2257402,COSV60491525 1703 1 - HGNC HGNC:23414 - - 3 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C ENSG00000172661 Transcript ENST00000537517.6 protein_coding 8/28 - - - 813 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - HGNC HGNC:23414 - - 2 - - Ensembl - A A - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C ENSG00000172661 Transcript ENST00000540872.6 protein_coding 8/29 - - - 814 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - HGNC HGNC:23414 - - 1 - - Ensembl - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C ENSG00000172661 Transcript ENST00000623400.4 protein_coding 8/31 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - HGNC HGNC:23414 NM_001330074.2 - 1 P1 - Ensembl - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001169106.2 protein_coding 8/29 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001169107.2 protein_coding 8/28 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001330074.2 protein_coding 8/31 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 ENST00000623400.4 - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367393.1 protein_coding 8/30 - - - 851 725 242 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367394.1 protein_coding 8/28 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367395.1 protein_coding 8/31 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367396.1 protein_coding 8/29 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367397.1 protein_coding 8/32 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367398.1 protein_coding 9/31 - - - 880 152 51 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367399.1 protein_coding 8/28 - - - 736 467 156 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated(1) benign(0.003) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367400.1 protein_coding 8/29 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367401.1 protein_coding 8/29 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367402.1 protein_coding 9/31 - - - 786 152 51 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367403.1 protein_coding 8/30 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367404.1 protein_coding - 7/28 - - - - - - - rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367405.1 protein_coding 9/31 - - - 897 152 51 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G splice_region_variant,5_prime_UTR_variant LOW WASHC2C 253725 Transcript NM_001367406.1 protein_coding 8/30 - - - 783 - - - - rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367407.1 protein_coding 10/32 - - - 886 152 51 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367408.1 protein_coding 8/29 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367409.1 protein_coding 8/30 - - - 739 470 157 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367410.1 protein_coding 8/30 - - - 736 467 156 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367411.1 protein_coding 8/31 - - - 739 470 157 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367412.1 protein_coding 9/32 - - - 880 152 51 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367413.1 protein_coding 8/28 - - - 739 470 157 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367414.1 protein_coding 9/31 - - - 853 152 51 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367415.1 protein_coding 8/27 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated(1) benign(0.003) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_001367416.1 protein_coding 8/28 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated(1) benign(0.006) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript NM_015262.3 protein_coding 8/30 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G splice_region_variant,non_coding_transcript_exon_variant LOW WASHC2C 253725 Transcript NR_159966.1 misc_RNA 9/33 - - - 880 - - - - rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_011539568.3 protein_coding 8/30 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_011539569.3 protein_coding 8/30 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_011539570.4 protein_coding 7/30 - - - 609 557 186 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_011539572.3 protein_coding 8/22 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_017016014.3 protein_coding 8/30 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_017016017.3 protein_coding 8/29 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424941.1 protein_coding 8/29 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424942.1 protein_coding 8/29 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424943.1 protein_coding 8/28 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424944.1 protein_coding 7/29 - - - 609 557 186 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424945.1 protein_coding 8/29 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424946.1 protein_coding 7/29 - - - 609 557 186 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424947.1 protein_coding 7/29 - - - 609 557 186 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424948.1 protein_coding 8/28 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424949.1 protein_coding 8/29 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424950.1 protein_coding 8/28 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424951.1 protein_coding 7/28 - - - 609 557 186 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424952.1 protein_coding 8/28 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424953.1 protein_coding 8/28 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424954.1 protein_coding 8/27 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424955.1 protein_coding 8/28 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424956.1 protein_coding 8/27 - - - 783 731 244 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:45746646-45746646 G missense_variant,splice_region_variant MODERATE WASHC2C 253725 Transcript XM_047424957.1 protein_coding 6/29 - - - 459 152 51 Q/R cAg/cGg rs2257402,COSV60491525 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - A A - tolerated(1) benign(0.001) - - 0,1 0,1 - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000359860.7 protein_coding - 7/28 - - - - - - - rs552600929 - 1 - HGNC HGNC:23414 - - 5 - - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000374362.6 protein_coding - 8/29 - - - - - - - rs552600929 - 1 - HGNC HGNC:23414 - - 1 - - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000420848.3 protein_coding - 7/9 - - - - - - - rs552600929 - 1 cds_end_NF HGNC HGNC:23414 - - 5 - - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G downstream_gene_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000485850.1 retained_intron - - - - - - - - - rs552600929 1818 1 - HGNC HGNC:23414 - - 3 - - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000537517.6 protein_coding - 8/27 - - - - - - - rs552600929 - 1 - HGNC HGNC:23414 - - 2 - - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000540872.6 protein_coding - 8/28 - - - - - - - rs552600929 - 1 - HGNC HGNC:23414 - - 1 - - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000623400.4 protein_coding - 8/30 - - - - - - - rs552600929 - 1 - HGNC HGNC:23414 NM_001330074.2 - 1 P1 - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001169106.2 protein_coding - 8/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001169107.2 protein_coding - 8/27 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001330074.2 protein_coding - 8/30 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 ENST00000623400.4 - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367393.1 protein_coding - 8/29 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367394.1 protein_coding - 8/27 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367395.1 protein_coding - 8/30 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367396.1 protein_coding - 8/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367397.1 protein_coding - 8/31 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367398.1 protein_coding - 9/30 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367399.1 protein_coding - 8/27 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367400.1 protein_coding - 8/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367401.1 protein_coding - 8/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367402.1 protein_coding - 9/30 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367403.1 protein_coding - 8/29 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367404.1 protein_coding - 7/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367405.1 protein_coding - 9/30 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367406.1 protein_coding - 8/29 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367407.1 protein_coding - 10/31 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367408.1 protein_coding - 8/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367409.1 protein_coding - 8/29 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367410.1 protein_coding - 8/29 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367411.1 protein_coding - 8/30 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367412.1 protein_coding - 9/31 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367413.1 protein_coding - 8/27 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367414.1 protein_coding - 9/30 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367415.1 protein_coding - 8/26 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367416.1 protein_coding - 8/27 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript NM_015262.3 protein_coding - 8/29 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant,non_coding_transcript_variant MODIFIER WASHC2C 253725 Transcript NR_159966.1 misc_RNA - 9/32 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_011539568.3 protein_coding - 8/29 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_011539569.3 protein_coding - 8/29 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_011539570.4 protein_coding - 7/29 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_011539572.3 protein_coding - 8/21 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_017016014.3 protein_coding - 8/29 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_017016017.3 protein_coding - 8/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424941.1 protein_coding - 8/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424942.1 protein_coding - 8/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424943.1 protein_coding - 8/27 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424944.1 protein_coding - 7/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424945.1 protein_coding - 8/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424946.1 protein_coding - 7/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424947.1 protein_coding - 7/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424948.1 protein_coding - 8/27 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424949.1 protein_coding - 8/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424950.1 protein_coding - 8/27 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424951.1 protein_coding - 7/27 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424952.1 protein_coding - 8/27 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424953.1 protein_coding - 8/27 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424954.1 protein_coding - 8/26 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424955.1 protein_coding - 8/27 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424956.1 protein_coding - 8/26 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45746761-45746761 G intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424957.1 protein_coding - 6/28 - - - - - - - rs552600929 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000359860.7 protein_coding - 17/28 - - - - - - - rs880001134 - 1 - HGNC HGNC:23414 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000374362.6 protein_coding - 18/29 - - - - - - - rs880001134 - 1 - HGNC HGNC:23414 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000537517.6 protein_coding - 17/27 - - - - - - - rs880001134 - 1 - HGNC HGNC:23414 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000540872.6 protein_coding - 18/28 - - - - - - - rs880001134 - 1 - HGNC HGNC:23414 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C ENSG00000172661 Transcript ENST00000623400.4 protein_coding - 18/30 - - - - - - - rs880001134 - 1 - HGNC HGNC:23414 NM_001330074.2 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001169106.2 protein_coding - 18/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001169107.2 protein_coding - 17/27 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001330074.2 protein_coding - 18/30 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 ENST00000623400.4 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367393.1 protein_coding - 18/29 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367394.1 protein_coding - 17/27 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367395.1 protein_coding - 17/30 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367396.1 protein_coding - 17/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367397.1 protein_coding - 18/31 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367398.1 protein_coding - 18/30 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367399.1 protein_coding - 18/27 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367400.1 protein_coding - 17/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367401.1 protein_coding - 17/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367402.1 protein_coding - 19/30 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367403.1 protein_coding - 17/29 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367404.1 protein_coding - 16/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367405.1 protein_coding - 19/30 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367406.1 protein_coding - 18/29 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367407.1 protein_coding - 20/31 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367408.1 protein_coding - 18/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367409.1 protein_coding - 18/29 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367410.1 protein_coding - 18/29 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367411.1 protein_coding - 18/30 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367412.1 protein_coding - 19/31 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367413.1 protein_coding - 17/27 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367414.1 protein_coding - 19/30 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367415.1 protein_coding - 17/26 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_001367416.1 protein_coding - 18/27 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript NM_015262.3 protein_coding - 18/29 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant,non_coding_transcript_variant MODIFIER WASHC2C 253725 Transcript NR_159966.1 misc_RNA - 20/32 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_011539568.3 protein_coding - 17/29 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_011539569.3 protein_coding - 18/29 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_011539570.4 protein_coding - 17/29 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_011539572.3 protein_coding - 18/21 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_017016014.3 protein_coding - 18/29 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_017016017.3 protein_coding - 16/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424941.1 protein_coding - 17/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424942.1 protein_coding - 17/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424943.1 protein_coding - 16/27 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424944.1 protein_coding - 17/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424945.1 protein_coding - 17/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424946.1 protein_coding - 16/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424947.1 protein_coding - 16/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424948.1 protein_coding - 17/27 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424949.1 protein_coding - 18/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424950.1 protein_coding - 17/27 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424951.1 protein_coding - 16/27 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424952.1 protein_coding - 16/27 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424953.1 protein_coding - 18/27 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424954.1 protein_coding - 16/26 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424955.1 protein_coding - 17/27 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424956.1 protein_coding - 17/26 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424957.1 protein_coding - 16/28 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45763548-45763548 C intron_variant MODIFIER WASHC2C 253725 Transcript XM_047424959.1 protein_coding - 2/13 - - - - - - - rs880001134 - 1 - EntrezGene HGNC:23414 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:45826456-45826456 T downstream_gene_variant MODIFIER AGAP4 ENSG00000188234 Transcript ENST00000430779.6 protein_coding_CDS_not_defined - - - - - - - - - rs202104169,COSV71164754 884 -1 - HGNC HGNC:23459 - - 2 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:45826456-45826456 T missense_variant MODERATE AGAP4 ENSG00000188234 Transcript ENST00000448048.7 protein_coding 7/7 - - - 1577 1451 484 R/H cGc/cAc rs202104169,COSV71164754 - -1 - HGNC HGNC:23459 - - 1 A2 - Ensembl - C C - tolerated_low_confidence(0.07) probably_damaging(0.999) - - 0,1 0,1 - - - - - - . 10:45826456-45826456 T missense_variant MODERATE AGAP4 ENSG00000188234 Transcript ENST00000616763.6 protein_coding 8/8 - - - 1673 1520 507 R/H cGc/cAc rs202104169,COSV71164754 - -1 - HGNC HGNC:23459 NM_001276343.3 - 1 P4 - Ensembl - C C - tolerated_low_confidence(0.07) possibly_damaging(0.71) - - 0,1 0,1 - - - - - - . 10:45826456-45826456 T missense_variant MODERATE AGAP4 119016 Transcript NM_001276343.3 protein_coding 8/8 - - - 1673 1520 507 R/H cGc/cAc rs202104169,COSV71164754 - -1 - EntrezGene HGNC:23459 ENST00000616763.6 - - - - RefSeq - C C - tolerated_low_confidence(0.07) possibly_damaging(0.71) - - 0,1 0,1 - - - - - - . 10:45826456-45826456 T missense_variant MODERATE AGAP4 119016 Transcript NM_001393377.1 protein_coding 10/10 - - - 2616 1403 468 R/H cGc/cAc rs202104169,COSV71164754 - -1 - EntrezGene HGNC:23459 - - - - - RefSeq - C C - tolerated_low_confidence(0.07) possibly_damaging(0.869) - - 0,1 0,1 - - - - - - . 10:45826456-45826456 T 3_prime_UTR_variant MODIFIER AGAP4 119016 Transcript NM_001393378.1 protein_coding 12/12 - - - 2775 - - - - rs202104169,COSV71164754 - -1 - EntrezGene HGNC:23459 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:45826456-45826456 T missense_variant MODERATE AGAP4 119016 Transcript NM_133446.4 protein_coding 7/7 - - - 1604 1451 484 R/H cGc/cAc rs202104169,COSV71164754 - -1 - EntrezGene HGNC:23459 - - - - - RefSeq - C C - tolerated_low_confidence(0.07) probably_damaging(0.999) - - 0,1 0,1 - - - - - - . 10:45826456-45826456 T non_coding_transcript_exon_variant MODIFIER PARGP1-AGAP4 114004351 Transcript NR_160518.1 transcribed_pseudogene 18/18 - - - 3457 - - - - rs202104169,COSV71164754 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:45826456-45826456 T non_coding_transcript_exon_variant MODIFIER PARGP1-AGAP4 114004351 Transcript NR_160519.1 transcribed_pseudogene 19/19 - - - 3546 - - - - rs202104169,COSV71164754 - -1 - EntrezGene - - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:45826456-45826456 T non_coding_transcript_exon_variant MODIFIER AGAP4 119016 Transcript NR_171664.1 misc_RNA 10/10 - - - 2651 - - - - rs202104169,COSV71164754 - -1 - EntrezGene HGNC:23459 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:45826797-45826797 T downstream_gene_variant MODIFIER AGAP4 ENSG00000188234 Transcript ENST00000430779.6 protein_coding_CDS_not_defined - - - - - - - - - rs77275891,COSV71165032 543 -1 - HGNC HGNC:23459 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:45826797-45826797 T synonymous_variant LOW AGAP4 ENSG00000188234 Transcript ENST00000448048.7 protein_coding 7/7 - - - 1236 1110 370 P ccC/ccA rs77275891,COSV71165032 - -1 - HGNC HGNC:23459 - - 1 A2 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:45826797-45826797 T synonymous_variant LOW AGAP4 ENSG00000188234 Transcript ENST00000616763.6 protein_coding 8/8 - - - 1332 1179 393 P ccC/ccA rs77275891,COSV71165032 - -1 - HGNC HGNC:23459 NM_001276343.3 - 1 P4 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:45826797-45826797 T synonymous_variant LOW AGAP4 119016 Transcript NM_001276343.3 protein_coding 8/8 - - - 1332 1179 393 P ccC/ccA rs77275891,COSV71165032 - -1 - EntrezGene HGNC:23459 ENST00000616763.6 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:45826797-45826797 T synonymous_variant LOW AGAP4 119016 Transcript NM_001393377.1 protein_coding 10/10 - - - 2275 1062 354 P ccC/ccA rs77275891,COSV71165032 - -1 - EntrezGene HGNC:23459 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:45826797-45826797 T 3_prime_UTR_variant MODIFIER AGAP4 119016 Transcript NM_001393378.1 protein_coding 12/12 - - - 2434 - - - - rs77275891,COSV71165032 - -1 - EntrezGene HGNC:23459 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:45826797-45826797 T synonymous_variant LOW AGAP4 119016 Transcript NM_133446.4 protein_coding 7/7 - - - 1263 1110 370 P ccC/ccA rs77275891,COSV71165032 - -1 - EntrezGene HGNC:23459 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:45826797-45826797 T non_coding_transcript_exon_variant MODIFIER PARGP1-AGAP4 114004351 Transcript NR_160518.1 transcribed_pseudogene 18/18 - - - 3116 - - - - rs77275891,COSV71165032 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:45826797-45826797 T non_coding_transcript_exon_variant MODIFIER PARGP1-AGAP4 114004351 Transcript NR_160519.1 transcribed_pseudogene 19/19 - - - 3205 - - - - rs77275891,COSV71165032 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:45826797-45826797 T non_coding_transcript_exon_variant MODIFIER AGAP4 119016 Transcript NR_171664.1 misc_RNA 10/10 - - - 2310 - - - - rs77275891,COSV71165032 - -1 - EntrezGene HGNC:23459 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:45847045-45847045 T intron_variant,non_coding_transcript_variant MODIFIER AGAP4 ENSG00000188234 Transcript ENST00000430779.6 protein_coding_CDS_not_defined - 4/9 - - - - - - - rs1431529284 - -1 - HGNC HGNC:23459 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:45847045-45847045 T intron_variant MODIFIER AGAP4 ENSG00000188234 Transcript ENST00000448048.7 protein_coding - 1/6 - - - - - - - rs1431529284 - -1 - HGNC HGNC:23459 - - 1 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:45847045-45847045 T intron_variant,non_coding_transcript_variant MODIFIER AGAP4 ENSG00000188234 Transcript ENST00000490752.1 retained_intron - 1/2 - - - - - - - rs1431529284 - -1 - HGNC HGNC:23459 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:45847045-45847045 T upstream_gene_variant MODIFIER AGAP4 ENSG00000188234 Transcript ENST00000495243.1 retained_intron - - - - - - - - - rs1431529284 2542 -1 - HGNC HGNC:23459 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:45847045-45847045 T intron_variant MODIFIER AGAP4 ENSG00000188234 Transcript ENST00000616763.6 protein_coding - 1/7 - - - - - - - rs1431529284 - -1 - HGNC HGNC:23459 NM_001276343.3 - 1 P4 - Ensembl - G G - - - - - - - - - - - - - . 10:45847045-45847045 T intron_variant MODIFIER AGAP4 119016 Transcript NM_001276343.3 protein_coding - 1/7 - - - - - - - rs1431529284 - -1 - EntrezGene HGNC:23459 ENST00000616763.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45847045-45847045 T intron_variant MODIFIER AGAP4 119016 Transcript NM_001393377.1 protein_coding - 3/9 - - - - - - - rs1431529284 - -1 - EntrezGene HGNC:23459 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45847045-45847045 T intron_variant MODIFIER AGAP4 119016 Transcript NM_001393378.1 protein_coding - 4/11 - - - - - - - rs1431529284 - -1 - EntrezGene HGNC:23459 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45847045-45847045 T intron_variant MODIFIER AGAP4 119016 Transcript NM_133446.4 protein_coding - 1/6 - - - - - - - rs1431529284 - -1 - EntrezGene HGNC:23459 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45847045-45847045 T intron_variant,non_coding_transcript_variant MODIFIER PARGP1-AGAP4 114004351 Transcript NR_160518.1 transcribed_pseudogene - 11/17 - - - - - - - rs1431529284 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45847045-45847045 T intron_variant,non_coding_transcript_variant MODIFIER PARGP1-AGAP4 114004351 Transcript NR_160519.1 transcribed_pseudogene - 11/18 - - - - - - - rs1431529284 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45847045-45847045 T intron_variant,non_coding_transcript_variant MODIFIER AGAP4 119016 Transcript NR_171664.1 misc_RNA - 4/9 - - - - - - - rs1431529284 - -1 - EntrezGene HGNC:23459 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45892475-45892475 A non_coding_transcript_exon_variant MODIFIER PARGP1 ENSG00000239883 Transcript ENST00000417555.2 transcribed_unprocessed_pseudogene 11/12 - - - 2095 - - - - rs71248489 - -1 - HGNC HGNC:45008 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:45892475-45892475 A non_coding_transcript_exon_variant MODIFIER - ENSG00000290921 Transcript ENST00000440803.7 lncRNA 1/5 - - - 9 - - - - rs71248489 - -1 - - - - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:45892475-45892475 A non_coding_transcript_exon_variant MODIFIER - ENSG00000290921 Transcript ENST00000686367.1 lncRNA 2/4 - - - 225 - - - - rs71248489 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:45892475-45892475 A non_coding_transcript_exon_variant MODIFIER - ENSG00000290921 Transcript ENST00000688192.1 lncRNA 10/12 - - - 1061 - - - - rs71248489 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:45892475-45892475 A non_coding_transcript_exon_variant MODIFIER - ENSG00000290921 Transcript ENST00000693310.1 lncRNA 6/8 - - - 593 - - - - rs71248489 - -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:45892475-45892475 A non_coding_transcript_exon_variant MODIFIER PARGP1 728407 Transcript NR_029388.2 transcribed_pseudogene 10/13 - - - 1067 - - - - rs71248489 - -1 - EntrezGene HGNC:45008 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45892475-45892475 A non_coding_transcript_exon_variant MODIFIER PARGP1-AGAP4 114004351 Transcript NR_160518.1 transcribed_pseudogene 6/18 - - - 583 - - - - rs71248489 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45892475-45892475 A non_coding_transcript_exon_variant MODIFIER PARGP1-AGAP4 114004351 Transcript NR_160519.1 transcribed_pseudogene 6/19 - - - 583 - - - - rs71248489 - -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:45953507-45953507 C intron_variant,non_coding_transcript_variant MODIFIER PARGP1 ENSG00000239883 Transcript ENST00000417555.2 transcribed_unprocessed_pseudogene - 3/11 - - - - - - - rs1287648533 - -1 - HGNC HGNC:45008 - - - - - Ensembl - T T - - - - - - 1 34518561 - - - - - . 10:45953507-45953507 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290921 Transcript ENST00000686367.1 lncRNA - 1/3 - - - - - - - rs1287648533 - -1 - - - - - - - - Ensembl - T T - - - - - - 1 34518561 - - - - - . 10:45953507-45953507 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290921 Transcript ENST00000687550.1 lncRNA - 2/7 - - - - - - - rs1287648533 - -1 - - - - - - - - Ensembl - T T - - - - - - 1 34518561 - - - - - . 10:45953507-45953507 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290921 Transcript ENST00000687844.1 lncRNA - 2/6 - - - - - - - rs1287648533 - -1 - - - - - - - - Ensembl - T T - - - - - - 1 34518561 - - - - - . 10:45953507-45953507 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290921 Transcript ENST00000688192.1 lncRNA - 2/11 - - - - - - - rs1287648533 - -1 - - - - - - - - Ensembl - T T - - - - - - 1 34518561 - - - - - . 10:45953507-45953507 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290921 Transcript ENST00000693310.1 lncRNA - 1/7 - - - - - - - rs1287648533 - -1 - - - - - - - - Ensembl - T T - - - - - - 1 34518561 - - - - - . 10:45953507-45953507 C intron_variant,non_coding_transcript_variant MODIFIER PARGP1 728407 Transcript NR_029388.2 transcribed_pseudogene - 2/12 - - - - - - - rs1287648533 - -1 - EntrezGene HGNC:45008 - - - - - RefSeq - T T - - - - - - 1 34518561 - - - - - . 10:45953507-45953507 C intron_variant,non_coding_transcript_variant MODIFIER PARGP1-AGAP4 114004351 Transcript NR_160518.1 transcribed_pseudogene - 1/17 - - - - - - - rs1287648533 - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - 1 34518561 - - - - - . 10:45953507-45953507 C intron_variant,non_coding_transcript_variant MODIFIER PARGP1-AGAP4 114004351 Transcript NR_160519.1 transcribed_pseudogene - 1/18 - - - - - - - rs1287648533 - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - 1 34518561 - - - - - . 10:45962816-45962816 T non_coding_transcript_exon_variant MODIFIER PARGP1 ENSG00000239883 Transcript ENST00000417555.2 transcribed_unprocessed_pseudogene 3/12 - - - 1383 - - - - rs74974840 - -1 - HGNC HGNC:45008 - - - - - Ensembl - C C - - - 0.7496 - - - - - - - - - . 10:45962816-45962816 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290921 Transcript ENST00000686367.1 lncRNA - 1/3 - - - - - - - rs74974840 - -1 - - - - - - - - Ensembl - C C - - - 0.7496 - - - - - - - - - . 10:45962816-45962816 T non_coding_transcript_exon_variant MODIFIER - ENSG00000290921 Transcript ENST00000687550.1 lncRNA 2/8 - - - 325 - - - - rs74974840 - -1 - - - - - - - - Ensembl - C C - - - 0.7496 - - - - - - - - - . 10:45962816-45962816 T non_coding_transcript_exon_variant MODIFIER - ENSG00000290921 Transcript ENST00000687844.1 lncRNA 2/7 - - - 391 - - - - rs74974840 - -1 - - - - - - - - Ensembl - C C - - - 0.7496 - - - - - - - - - . 10:45962816-45962816 T non_coding_transcript_exon_variant MODIFIER - ENSG00000290921 Transcript ENST00000688192.1 lncRNA 2/12 - - - 385 - - - - rs74974840 - -1 - - - - - - - - Ensembl - C C - - - 0.7496 - - - - - - - - - . 10:45962816-45962816 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000290921 Transcript ENST00000693310.1 lncRNA - 1/7 - - - - - - - rs74974840 - -1 - - - - - - - - Ensembl - C C - - - 0.7496 - - - - - - - - - . 10:45962816-45962816 T non_coding_transcript_exon_variant MODIFIER PARGP1 728407 Transcript NR_029388.2 transcribed_pseudogene 2/13 - - - 391 - - - - rs74974840 - -1 - EntrezGene HGNC:45008 - - - - - RefSeq - C C - - - 0.7496 - - - - - - - - - . 10:45962816-45962816 T intron_variant,non_coding_transcript_variant MODIFIER PARGP1-AGAP4 114004351 Transcript NR_160518.1 transcribed_pseudogene - 1/17 - - - - - - - rs74974840 - -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.7496 - - - - - - - - - . 10:45962816-45962816 T intron_variant,non_coding_transcript_variant MODIFIER PARGP1-AGAP4 114004351 Transcript NR_160519.1 transcribed_pseudogene - 1/18 - - - - - - - rs74974840 - -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.7496 - - - - - - - - - . 10:46046277-46046277 A upstream_gene_variant MODIFIER MSMB ENSG00000263639 Transcript ENST00000581478.5 protein_coding - - - - - - - - - rs4935176 8 -1 - HGNC HGNC:7372 - - 1 - - Ensembl - C C - - - 0.9541 - - - - - - - - - . 10:46046277-46046277 A upstream_gene_variant MODIFIER MSMB ENSG00000263639 Transcript ENST00000582163.3 protein_coding - - - - - - - - - rs4935176 8 -1 - HGNC HGNC:7372 NM_002443.4 - 1 P1 - Ensembl - C C - - - 0.9541 - - - - - - - - - . 10:46046277-46046277 A 5_prime_UTR_variant MODIFIER MSMB ENSG00000263639 Transcript ENST00000663171.1 protein_coding 2/5 - - - 410 - - - - rs4935176 - -1 - HGNC HGNC:7372 - - - - - Ensembl - C C - - - 0.9541 - - - - - - - - - . 10:46046277-46046277 A upstream_gene_variant MODIFIER MSMB 4477 Transcript NM_002443.4 protein_coding - - - - - - - - - rs4935176 8 -1 - EntrezGene HGNC:7372 ENST00000582163.3 - - - - RefSeq - C C - - - 0.9541 - - - - - - - - - . 10:46046277-46046277 A upstream_gene_variant MODIFIER MSMB 4477 Transcript NM_138634.3 protein_coding - - - - - - - - - rs4935176 8 -1 - EntrezGene HGNC:7372 - - - - - RefSeq - C C - - - 0.9541 - - - - - - - - - . 10:46063294-46063294 T non_coding_transcript_exon_variant MODIFIER RPL23AP61 ENSG00000280012 Transcript ENST00000623642.2 processed_pseudogene 1/1 - - - 45 - - - - rs4630240 - 1 - HGNC HGNC:36016 - - - - - Ensembl - C C - - - 0.2742 - - - 18091754,19383797 - - - - - . 10:46063294-46063294 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000944135 enhancer - - - - - - - - - rs4630240 - - - - - - - - - - - - - - - - - 0.2742 - - - 18091754,19383797 - - - - - . 10:46112509-46112509 T intron_variant,non_coding_transcript_variant MODIFIER AGAP7P ENSG00000264204 Transcript ENST00000582299.2 unprocessed_pseudogene - 2/7 - - - - - - - rs75190038 - 1 - HGNC HGNC:23465 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:46112509-46112509 T intron_variant,non_coding_transcript_variant MODIFIER AGAP7P 653268 Transcript NR_126580.1 transcribed_pseudogene - 2/6 - - - - - - - rs75190038 - 1 - EntrezGene HGNC:23465 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:46130039-46130039 G non_coding_transcript_exon_variant MODIFIER AGAP7P ENSG00000264204 Transcript ENST00000582299.2 unprocessed_pseudogene 8/8 - - - 743 - - - - rs4043619 - 1 - HGNC HGNC:23465 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:46130039-46130039 G non_coding_transcript_exon_variant MODIFIER AGAP7P 653268 Transcript NR_126580.1 transcribed_pseudogene 7/7 - - - 768 - - - - rs4043619 - 1 - EntrezGene HGNC:23465 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:46130172-46130172 A non_coding_transcript_exon_variant MODIFIER AGAP7P ENSG00000264204 Transcript ENST00000582299.2 unprocessed_pseudogene 8/8 - - - 876 - - - - rs199898426 - 1 - HGNC HGNC:23465 - - - - - Ensembl - G G - - - 0.3806 - - - - - - - - - . 10:46130172-46130172 A non_coding_transcript_exon_variant MODIFIER AGAP7P 653268 Transcript NR_126580.1 transcribed_pseudogene 7/7 - - - 901 - - - - rs199898426 - 1 - EntrezGene HGNC:23465 - - - - - RefSeq - G G OK - - 0.3806 - - - - - - - - - . 10:46130270-46130270 A non_coding_transcript_exon_variant MODIFIER AGAP7P ENSG00000264204 Transcript ENST00000582299.2 unprocessed_pseudogene 8/8 - - - 974 - - - - rs61850064 - 1 - HGNC HGNC:23465 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:46130270-46130270 A non_coding_transcript_exon_variant MODIFIER AGAP7P 653268 Transcript NR_126580.1 transcribed_pseudogene 7/7 - - - 999 - - - - rs61850064 - 1 - EntrezGene HGNC:23465 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:46131355-46131355 A non_coding_transcript_exon_variant MODIFIER AGAP7P ENSG00000264204 Transcript ENST00000582299.2 unprocessed_pseudogene 8/8 - - - 2059 - - - - rs540615918 - 1 - HGNC HGNC:23465 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:46131355-46131355 A non_coding_transcript_exon_variant MODIFIER AGAP7P 653268 Transcript NR_126580.1 transcribed_pseudogene 7/7 - - - 2084 - - - - rs540615918 - 1 - EntrezGene HGNC:23465 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:46337332-46337332 A non_coding_transcript_exon_variant MODIFIER AGAP14P ENSG00000279058 Transcript ENST00000624701.2 unprocessed_pseudogene 1/8 - - - 109 - - - - rs1554968655 - 1 - HGNC HGNC:23660 - - - - - Ensembl - G G - - - 0.9996 - - - - - - - - - . 10:46337332-46337332 A non_coding_transcript_exon_variant MODIFIER AGAP14P 653259 Transcript NR_165820.1 transcribed_pseudogene 1/8 - - - 72 - - - - rs1554968655 - 1 - EntrezGene HGNC:23660 - - - - - RefSeq - G G - - - 0.9996 - - - - - - - - - . 10:46337332-46337332 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000402579 CTCF_binding_site - - - - - - - - - rs1554968655 - - - - - - - - - - - - - - - - - 0.9996 - - - - - - - - - . 10:46337811-46337811 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW AGAP14P ENSG00000279058 Transcript ENST00000624701.2 unprocessed_pseudogene - 1/7 - - - - - - - rs1554968759 - 1 - HGNC HGNC:23660 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:46337811-46337811 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW AGAP14P 653259 Transcript NR_165820.1 transcribed_pseudogene - 1/7 - - - - - - - rs1554968759 - 1 - EntrezGene HGNC:23660 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:46416187-46416187 A non_coding_transcript_exon_variant MODIFIER HNRNPA1P33 ENSG00000213412 Transcript ENST00000421426.1 processed_pseudogene 1/1 - - - 335 - - - - - - 1 - HGNC HGNC:44990 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:46416187-46416187 A intron_variant,non_coding_transcript_variant MODIFIER LINC00842 ENSG00000285294 Transcript ENST00000614356.1 lncRNA - 1/3 - - - - - - - - - 1 - HGNC HGNC:44989 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:46416187-46416187 A non_coding_transcript_exon_variant MODIFIER HNRNPA1P33 728643 Transcript NR_003277.2 transcribed_pseudogene 1/1 - - - 335 - - - - - - 1 - EntrezGene HGNC:44990 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:46416187-46416187 A intron_variant,non_coding_transcript_variant MODIFIER LINC00842 643650 Transcript NR_033957.2 lncRNA - 1/3 - - - - - - - - - 1 - EntrezGene HGNC:44989 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:46416261-46416261 C non_coding_transcript_exon_variant MODIFIER HNRNPA1P33 ENSG00000213412 Transcript ENST00000421426.1 processed_pseudogene 1/1 - - - 409 - - - - rs533919771 - 1 - HGNC HGNC:44990 - - - - - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:46416261-46416261 C intron_variant,non_coding_transcript_variant MODIFIER LINC00842 ENSG00000285294 Transcript ENST00000614356.1 lncRNA - 1/3 - - - - - - - rs533919771 - 1 - HGNC HGNC:44989 - - 2 - - Ensembl - G G - - - 0.9998 - - - - - - - - - . 10:46416261-46416261 C non_coding_transcript_exon_variant MODIFIER HNRNPA1P33 728643 Transcript NR_003277.2 transcribed_pseudogene 1/1 - - - 409 - - - - rs533919771 - 1 - EntrezGene HGNC:44990 - - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:46416261-46416261 C intron_variant,non_coding_transcript_variant MODIFIER LINC00842 643650 Transcript NR_033957.2 lncRNA - 1/3 - - - - - - - rs533919771 - 1 - EntrezGene HGNC:44989 - - - - - RefSeq - G G - - - 0.9998 - - - - - - - - - . 10:46625814-46625814 T downstream_gene_variant MODIFIER - ENSG00000290913 Transcript ENST00000475914.1 lncRNA - - - - - - - - - rs61856920 115 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:46625814-46625814 T non_coding_transcript_exon_variant MODIFIER SHLD2P1 ENSG00000165874 Transcript ENST00000497389.7 transcribed_unprocessed_pseudogene 5/8 - - - 2216 - - - - rs61856920 - -1 - HGNC HGNC:31425 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:46625814-46625814 T intron_variant,non_coding_transcript_variant MODIFIER SHLD2P1 414241 Transcript NR_027632.1 transcribed_pseudogene - 4/6 - - - - - - - rs61856920 - -1 - EntrezGene HGNC:31425 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:46625814-46625814 T upstream_gene_variant MODIFIER LINC02637 102724350 Transcript XR_007062134.1 lncRNA - - - - - - - - - rs61856920 3946 1 - EntrezGene HGNC:54120 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:46625814-46625814 T upstream_gene_variant MODIFIER LINC02637 102724350 Transcript XR_007062135.1 lncRNA - - - - - - - - - rs61856920 3946 1 - EntrezGene HGNC:54120 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:46625814-46625814 T upstream_gene_variant MODIFIER LINC02637 102724350 Transcript XR_945925.2 lncRNA - - - - - - - - - rs61856920 3946 1 - EntrezGene HGNC:54120 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:46650455-46650455 C non_coding_transcript_exon_variant MODIFIER SHLD2P1 ENSG00000165874 Transcript ENST00000497389.7 transcribed_unprocessed_pseudogene 1/8 - - - 1571 - - - - rs4925982 - -1 - HGNC HGNC:31425 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:46650455-46650455 C downstream_gene_variant MODIFIER RN7SL248P ENSG00000274186 Transcript ENST00000615117.1 misc_RNA - - - - - - - - - rs4925982 1179 1 - HGNC HGNC:46264 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:46650455-46650455 C non_coding_transcript_exon_variant MODIFIER SHLD2P1 414241 Transcript NR_027632.1 transcribed_pseudogene 1/7 - - - 1522 - - - - rs4925982 - -1 - EntrezGene HGNC:31425 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:46650758-46650760 - non_coding_transcript_exon_variant MODIFIER SHLD2P1 ENSG00000165874 Transcript ENST00000497389.7 transcribed_unprocessed_pseudogene 1/8 - - - 1266 - - - - rs1189653254 - -1 - HGNC HGNC:31425 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:46650758-46650760 - downstream_gene_variant MODIFIER RN7SL248P ENSG00000274186 Transcript ENST00000615117.1 misc_RNA - - - - - - - - - rs1189653254 1484 1 - HGNC HGNC:46264 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:46650758-46650760 - non_coding_transcript_exon_variant MODIFIER SHLD2P1 414241 Transcript NR_027632.1 transcribed_pseudogene 1/7 - - - 1217 - - - - rs1189653254 - -1 - EntrezGene HGNC:31425 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:46650994-46650994 A non_coding_transcript_exon_variant MODIFIER SHLD2P1 ENSG00000165874 Transcript ENST00000497389.7 transcribed_unprocessed_pseudogene 1/8 - - - 1032 - - - - rs1247888751 - -1 - HGNC HGNC:31425 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:46650994-46650994 A downstream_gene_variant MODIFIER RN7SL248P ENSG00000274186 Transcript ENST00000615117.1 misc_RNA - - - - - - - - - rs1247888751 1718 1 - HGNC HGNC:46264 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:46650994-46650994 A non_coding_transcript_exon_variant MODIFIER SHLD2P1 414241 Transcript NR_027632.1 transcribed_pseudogene 1/7 - - - 983 - - - - rs1247888751 - -1 - EntrezGene HGNC:31425 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:46651145-46651145 C non_coding_transcript_exon_variant MODIFIER SHLD2P1 ENSG00000165874 Transcript ENST00000497389.7 transcribed_unprocessed_pseudogene 1/8 - - - 881 - - - - rs1323011438 - -1 - HGNC HGNC:31425 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:46651145-46651145 C downstream_gene_variant MODIFIER RN7SL248P ENSG00000274186 Transcript ENST00000615117.1 misc_RNA - - - - - - - - - rs1323011438 1869 1 - HGNC HGNC:46264 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:46651145-46651145 C non_coding_transcript_exon_variant MODIFIER SHLD2P1 414241 Transcript NR_027632.1 transcribed_pseudogene 1/7 - - - 832 - - - - rs1323011438 - -1 - EntrezGene HGNC:31425 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:46776785-46776785 A upstream_gene_variant MODIFIER - ENSG00000215097 Transcript ENST00000399571.2 processed_pseudogene - - - - - - - - - rs1443497943 605 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:46776785-46776785 A non_coding_transcript_exon_variant MODIFIER GLUD1P2 ENSG00000265366 Transcript ENST00000583339.3 transcribed_unprocessed_pseudogene 1/3 - - - 49 - - - - rs1443497943 - -1 - HGNC HGNC:4337 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:46776785-46776785 A non_coding_transcript_exon_variant MODIFIER GLUD1P2 ENSG00000290875 Transcript ENST00000630097.2 lncRNA 3/7 - - - 228 - - - - rs1443497943 - -1 - EntrezGene HGNC:4337 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:46776785-46776785 A non_coding_transcript_exon_variant MODIFIER GLUD1P2 ENSG00000290875 Transcript ENST00000631118.2 lncRNA 2/6 - - - 112 - - - - rs1443497943 - -1 - EntrezGene HGNC:4337 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:46776785-46776785 A non_coding_transcript_exon_variant MODIFIER GLUD1P2 414212 Transcript NR_111968.1 transcribed_pseudogene 2/6 - - - 112 - - - - rs1443497943 - -1 - EntrezGene HGNC:4337 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:46810070-46810070 G upstream_gene_variant MODIFIER RNA5SP311 ENSG00000238405 Transcript ENST00000411290.2 rRNA_pseudogene - - - - - - - - - rs79887413 2497 -1 - HGNC HGNC:43211 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:46810070-46810070 G non_coding_transcript_exon_variant MODIFIER BMS1P1 ENSG00000291069 Transcript ENST00000580094.5 lncRNA 9/9 - - - 2375 - - - - rs79887413 - 1 - EntrezGene HGNC:23649 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:46810070-46810070 G intron_variant,non_coding_transcript_variant MODIFIER BMS1P1 ENSG00000291069 Transcript ENST00000688259.1 lncRNA - 8/8 - - - - - - - rs79887413 - 1 - EntrezGene HGNC:23649 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:46810070-46810070 G non_coding_transcript_exon_variant MODIFIER BMS1P1 399761 Transcript NR_003611.2 transcribed_pseudogene 9/9 - - - 2316 - - - - rs79887413 - 1 - EntrezGene HGNC:23649 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:46810070-46810070 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000944233 enhancer - - - - - - - - - rs79887413 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:46810070-46810070 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00523871122 - - - - - - - - - - rs79887413 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0497 2 N -0.006 SOX6::TBX21 . 10:46829622-46829622 G intron_variant,non_coding_transcript_variant MODIFIER AGAP13P ENSG00000243289 Transcript ENST00000417888.2 unprocessed_pseudogene - 4/7 - - - - - - - rs76207432 - 1 - HGNC HGNC:23499 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:46829622-46829622 G intron_variant,non_coding_transcript_variant MODIFIER AGAP13P 728005 Transcript NR_165819.1 transcribed_pseudogene - 4/6 - - - - - - - rs76207432 - 1 - EntrezGene HGNC:23499 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:46837923-46837923 T non_coding_transcript_exon_variant MODIFIER AGAP13P ENSG00000243289 Transcript ENST00000417888.2 unprocessed_pseudogene 8/8 - - - 2037 - - - - rs199958568 - 1 - HGNC HGNC:23499 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:46837923-46837923 T downstream_gene_variant MODIFIER AGAP13P 728005 Transcript NR_165819.1 transcribed_pseudogene - - - - - - - - - rs199958568 826 1 - EntrezGene HGNC:23499 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:46837942-46837942 A non_coding_transcript_exon_variant MODIFIER AGAP13P ENSG00000243289 Transcript ENST00000417888.2 unprocessed_pseudogene 8/8 - - - 2056 - - - - rs202127011 - 1 - HGNC HGNC:23499 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:46837942-46837942 A downstream_gene_variant MODIFIER AGAP13P 728005 Transcript NR_165819.1 transcribed_pseudogene - - - - - - - - - rs202127011 845 1 - EntrezGene HGNC:23499 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47569641-47569641 T downstream_gene_variant MODIFIER DUSP8P1 ENSG00000215065 Transcript ENST00000399538.2 processed_pseudogene - - - - - - - - - rs1266159926 3625 1 - HGNC HGNC:3075 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:47569641-47569641 T non_coding_transcript_exon_variant MODIFIER - ENSG00000265630 Transcript ENST00000585063.2 unprocessed_pseudogene 3/3 - - - 147 - - - - rs1266159926 - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:47569641-47569641 T intron_variant MODIFIER ANXA8 653145 Transcript XM_006717951.4 protein_coding - 1/11 - - - - - - - rs1266159926 - -1 - EntrezGene HGNC:546 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47715747-47715747 A non_coding_transcript_exon_variant MODIFIER SHLD2P3 ENSG00000189014 Transcript ENST00000323387.5 unprocessed_pseudogene 5/8 - - - 2057 - - - - rs61843701 - 1 - HGNC HGNC:34038 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:47715747-47715747 A intron_variant,non_coding_transcript_variant MODIFIER SHLD2P3 439965 Transcript NR_027634.1 transcribed_pseudogene - 4/6 - - - - - - - rs61843701 - 1 - EntrezGene HGNC:34038 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:47715747-47715747 A intron_variant,non_coding_transcript_variant MODIFIER SHLD2P3 439965 Transcript NR_160660.1 transcribed_pseudogene - 3/5 - - - - - - - rs61843701 - 1 - EntrezGene HGNC:34038 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:47715747-47715747 A non_coding_transcript_exon_variant MODIFIER SHLD2P3 439965 Transcript NR_160661.1 transcribed_pseudogene 4/7 - - - 1098 - - - - rs61843701 - 1 - EntrezGene HGNC:34038 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:47715747-47715747 A intron_variant MODIFIER ANXA8 653145 Transcript XM_006717951.4 protein_coding - 1/11 - - - - - - - rs61843701 - -1 - EntrezGene HGNC:546 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:47715747-47715747 A upstream_gene_variant MODIFIER LOC102724603 102724603 Transcript XR_007062139.1 lncRNA - - - - - - - - - rs61843701 3841 -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:47715747-47715747 A upstream_gene_variant MODIFIER LOC102724603 102724603 Transcript XR_007062140.1 lncRNA - - - - - - - - - rs61843701 3841 -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:47715850-47715850 A non_coding_transcript_exon_variant MODIFIER SHLD2P3 ENSG00000189014 Transcript ENST00000323387.5 unprocessed_pseudogene 5/8 - - - 2160 - - - - rs200856706 - 1 - HGNC HGNC:34038 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:47715850-47715850 A intron_variant,non_coding_transcript_variant MODIFIER SHLD2P3 439965 Transcript NR_027634.1 transcribed_pseudogene - 4/6 - - - - - - - rs200856706 - 1 - EntrezGene HGNC:34038 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47715850-47715850 A intron_variant,non_coding_transcript_variant MODIFIER SHLD2P3 439965 Transcript NR_160660.1 transcribed_pseudogene - 3/5 - - - - - - - rs200856706 - 1 - EntrezGene HGNC:34038 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47715850-47715850 A non_coding_transcript_exon_variant MODIFIER SHLD2P3 439965 Transcript NR_160661.1 transcribed_pseudogene 4/7 - - - 1201 - - - - rs200856706 - 1 - EntrezGene HGNC:34038 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47715850-47715850 A intron_variant MODIFIER ANXA8 653145 Transcript XM_006717951.4 protein_coding - 1/11 - - - - - - - rs200856706 - -1 - EntrezGene HGNC:546 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47715850-47715850 A upstream_gene_variant MODIFIER LOC102724603 102724603 Transcript XR_007062139.1 lncRNA - - - - - - - - - rs200856706 3944 -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47715850-47715850 A upstream_gene_variant MODIFIER LOC102724603 102724603 Transcript XR_007062140.1 lncRNA - - - - - - - - - rs200856706 3944 -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:47968396-47968396 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276850 Transcript ENST00000479781.5 lncRNA - 2/2 - - - - - - - rs1455758017 - -1 - - - - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47968396-47968396 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276850 Transcript ENST00000613389.1 lncRNA - 1/2 - - - - - - - rs1455758017 - -1 - - - - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47968396-47968396 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276850 Transcript ENST00000618306.1 lncRNA - 1/1 - - - - - - - rs1455758017 - -1 - - - - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47968396-47968396 G downstream_gene_variant MODIFIER - ENSG00000273760 Transcript ENST00000619523.1 lncRNA - - - - - - - - - rs1455758017 1647 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:47968396-47968396 G intron_variant MODIFIER ANXA8 653145 Transcript XM_006717951.4 protein_coding - 1/11 - - - - - - - rs1455758017 - -1 - EntrezGene HGNC:546 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47968396-47968396 G downstream_gene_variant MODIFIER LOC124902423 124902423 Transcript XR_007062143.1 lncRNA - - - - - - - - - rs1455758017 3691 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47968470-47968470 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276850 Transcript ENST00000479781.5 lncRNA - 2/2 - - - - - - - - - -1 - - - - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47968470-47968470 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276850 Transcript ENST00000613389.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47968470-47968470 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276850 Transcript ENST00000618306.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47968470-47968470 T downstream_gene_variant MODIFIER - ENSG00000273760 Transcript ENST00000619523.1 lncRNA - - - - - - - - - - 1573 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:47968470-47968470 T intron_variant MODIFIER ANXA8 653145 Transcript XM_006717951.4 protein_coding - 1/11 - - - - - - - - - -1 - EntrezGene HGNC:546 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47968470-47968470 T downstream_gene_variant MODIFIER LOC124902423 124902423 Transcript XR_007062143.1 lncRNA - - - - - - - - - - 3765 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47968667-47968667 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276850 Transcript ENST00000479781.5 lncRNA - 2/2 - - - - - - - rs1271239014 - -1 - - - - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47968667-47968667 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276850 Transcript ENST00000613389.1 lncRNA - 1/2 - - - - - - - rs1271239014 - -1 - - - - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47968667-47968667 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276850 Transcript ENST00000618306.1 lncRNA - 1/1 - - - - - - - rs1271239014 - -1 - - - - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:47968667-47968667 T downstream_gene_variant MODIFIER - ENSG00000273760 Transcript ENST00000619523.1 lncRNA - - - - - - - - - rs1271239014 1376 -1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:47968667-47968667 T intron_variant MODIFIER ANXA8 653145 Transcript XM_006717951.4 protein_coding - 1/11 - - - - - - - rs1271239014 - -1 - EntrezGene HGNC:546 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47968667-47968667 T downstream_gene_variant MODIFIER LOC124902423 124902423 Transcript XR_007062143.1 lncRNA - - - - - - - - - rs1271239014 3962 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:47968686-47968686 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276850 Transcript ENST00000479781.5 lncRNA - 2/2 - - - - - - - - - -1 - - - - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:47968686-47968686 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276850 Transcript ENST00000613389.1 lncRNA - 1/2 - - - - - - - - - -1 - - - - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:47968686-47968686 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000276850 Transcript ENST00000618306.1 lncRNA - 1/1 - - - - - - - - - -1 - - - - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:47968686-47968686 C downstream_gene_variant MODIFIER - ENSG00000273760 Transcript ENST00000619523.1 lncRNA - - - - - - - - - - 1357 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:47968686-47968686 C intron_variant MODIFIER ANXA8 653145 Transcript XM_006717951.4 protein_coding - 1/11 - - - - - - - - - -1 - EntrezGene HGNC:546 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:47968686-47968686 C downstream_gene_variant MODIFIER LOC124902423 124902423 Transcript XR_007062143.1 lncRNA - - - - - - - - - - 3981 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:48010426-48010426 A non_coding_transcript_exon_variant MODIFIER AGAP12P ENSG00000265018 Transcript ENST00000585227.6 transcribed_unprocessed_pseudogene 8/8 - - - 1806 - - - - rs77534235 - -1 - HGNC HGNC:23661 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:48010426-48010426 A non_coding_transcript_exon_variant MODIFIER AGAP12P ENSG00000290898 Transcript ENST00000603888.2 lncRNA 8/8 - - - 1847 - - - - rs77534235 - -1 - EntrezGene HGNC:23661 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:48010426-48010426 A non_coding_transcript_exon_variant MODIFIER AGAP12P 414224 Transcript NR_029396.2 transcribed_pseudogene 8/8 - - - 1847 - - - - rs77534235 - -1 - EntrezGene HGNC:23661 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:48010528-48010528 T non_coding_transcript_exon_variant MODIFIER AGAP12P ENSG00000265018 Transcript ENST00000585227.6 transcribed_unprocessed_pseudogene 8/8 - - - 1704 - - - - rs77581903 - -1 - HGNC HGNC:23661 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:48010528-48010528 T non_coding_transcript_exon_variant MODIFIER AGAP12P ENSG00000290898 Transcript ENST00000603888.2 lncRNA 8/8 - - - 1745 - - - - rs77581903 - -1 - EntrezGene HGNC:23661 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:48010528-48010528 T non_coding_transcript_exon_variant MODIFIER AGAP12P 414224 Transcript NR_029396.2 transcribed_pseudogene 8/8 - - - 1745 - - - - rs77581903 - -1 - EntrezGene HGNC:23661 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:48010536-48010536 G non_coding_transcript_exon_variant MODIFIER AGAP12P ENSG00000265018 Transcript ENST00000585227.6 transcribed_unprocessed_pseudogene 8/8 - - - 1696 - - - - rs77177732 - -1 - HGNC HGNC:23661 - - - - - Ensembl - C C - - - 0.6322 - - - - - - - - - . 10:48010536-48010536 G non_coding_transcript_exon_variant MODIFIER AGAP12P ENSG00000290898 Transcript ENST00000603888.2 lncRNA 8/8 - - - 1737 - - - - rs77177732 - -1 - EntrezGene HGNC:23661 - - 1 - - Ensembl - C C - - - 0.6322 - - - - - - - - - . 10:48010536-48010536 G non_coding_transcript_exon_variant MODIFIER AGAP12P 414224 Transcript NR_029396.2 transcribed_pseudogene 8/8 - - - 1737 - - - - rs77177732 - -1 - EntrezGene HGNC:23661 - - - - - RefSeq - C C - - - 0.6322 - - - - - - - - - . 10:48028712-48028712 G intron_variant,non_coding_transcript_variant MODIFIER AGAP12P ENSG00000265018 Transcript ENST00000585227.6 transcribed_unprocessed_pseudogene - 2/7 - - - - - - - rs76036573 - -1 - HGNC HGNC:23661 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:48028712-48028712 G intron_variant,non_coding_transcript_variant MODIFIER AGAP12P ENSG00000290898 Transcript ENST00000603888.2 lncRNA - 2/7 - - - - - - - rs76036573 - -1 - EntrezGene HGNC:23661 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:48028712-48028712 G intron_variant,non_coding_transcript_variant MODIFIER AGAP12P 414224 Transcript NR_029396.2 transcribed_pseudogene - 2/7 - - - - - - - rs76036573 - -1 - EntrezGene HGNC:23661 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:48105202-48105202 T non_coding_transcript_exon_variant MODIFIER PTPN20CP ENSG00000278561 Transcript ENST00000614090.1 transcribed_unprocessed_pseudogene 4/7 - - - 418 - - - - rs2270911 - -1 - HGNC HGNC:23424 - - - - - Ensembl - C C - - - 0.4505 - - 1 34128465,34329319 - - - - - . 10:48105202-48105202 T non_coding_transcript_exon_variant MODIFIER - ENSG00000290899 Transcript ENST00000692897.1 lncRNA 4/4 - - - 382 - - - - rs2270911 - -1 - - - - - - - - Ensembl - C C - - - 0.4505 - - 1 34128465,34329319 - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 ENSG00000128805 Transcript ENST00000249601.9 protein_coding - 5/9 - - - - - - - rs1867575 - -1 - HGNC HGNC:30320 NM_021226.4 - 1 P4 - Ensembl - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 ENSG00000128805 Transcript ENST00000374170.5 protein_coding - 3/5 - - - - - - - rs1867575 - -1 - HGNC HGNC:30320 - - 5 - - Ensembl - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 ENSG00000128805 Transcript ENST00000374172.5 protein_coding - 4/8 - - - - - - - rs1867575 - -1 - HGNC HGNC:30320 - - 2 - - Ensembl - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 ENSG00000128805 Transcript ENST00000417247.6 protein_coding - 3/7 - - - - - - - rs1867575 - -1 - HGNC HGNC:30320 - - 2 - - Ensembl - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 ENSG00000128805 Transcript ENST00000417912.6 protein_coding - 5/9 - - - - - - - rs1867575 - -1 - HGNC HGNC:30320 - - 1 A2 - Ensembl - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 ENSG00000128805 Transcript ENST00000435790.6 protein_coding - 5/9 - - - - - - - rs1867575 - -1 - HGNC HGNC:30320 - - 2 A2 - Ensembl - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant,NMD_transcript_variant MODIFIER ARHGAP22 ENSG00000128805 Transcript ENST00000460425.1 nonsense_mediated_decay - 6/10 - - - - - - - rs1867575 - -1 - HGNC HGNC:30320 - - 2 - - Ensembl - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP22 ENSG00000128805 Transcript ENST00000471013.5 protein_coding_CDS_not_defined - 2/4 - - - - - - - rs1867575 - -1 - HGNC HGNC:30320 - - 3 - - Ensembl - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP22 ENSG00000128805 Transcript ENST00000489984.1 protein_coding_CDS_not_defined - 2/3 - - - - - - - rs1867575 - -1 - HGNC HGNC:30320 - - 5 - - Ensembl - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP22 ENSG00000128805 Transcript ENST00000515523.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs1867575 - -1 - HGNC HGNC:30320 - - 4 - - Ensembl - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript NM_001256024.2 protein_coding - 5/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript NM_001256025.3 protein_coding - 5/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript NM_001256026.2 protein_coding - 3/7 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript NM_001347735.2 protein_coding - 4/8 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript NM_001347738.2 protein_coding - 6/10 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript NM_021226.4 protein_coding - 5/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 ENST00000249601.9 - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP22 58504 Transcript NR_045675.2 misc_RNA - 6/10 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP22 58504 Transcript NR_144642.2 misc_RNA - 5/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP22 58504 Transcript NR_144643.2 misc_RNA - 5/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP22 58504 Transcript NR_144644.2 misc_RNA - 4/8 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP22 58504 Transcript NR_144645.2 misc_RNA - 5/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant,non_coding_transcript_variant MODIFIER ARHGAP22 58504 Transcript NR_144646.2 misc_RNA - 4/8 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_005270014.4 protein_coding - 3/7 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_011540002.3 protein_coding - 6/10 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_011540003.2 protein_coding - 6/10 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_011540005.2 protein_coding - 3/7 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_011540006.3 protein_coding - 5/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_011540011.3 protein_coding - 2/6 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_011540013.4 protein_coding - 6/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_011540015.4 protein_coding - 6/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_017016471.3 protein_coding - 2/6 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_017016476.2 protein_coding - 5/8 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_024448099.2 protein_coding - 5/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_024448100.2 protein_coding - 6/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_047425586.1 protein_coding - 6/10 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_047425587.1 protein_coding - 3/7 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_047425588.1 protein_coding - 3/7 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_047425589.1 protein_coding - 3/7 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_047425590.1 protein_coding - 3/7 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_047425591.1 protein_coding - 3/7 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_047425592.1 protein_coding - 6/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_047425593.1 protein_coding - 6/9 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_047425594.1 protein_coding - 6/8 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A intron_variant MODIFIER ARHGAP22 58504 Transcript XM_047425595.1 protein_coding - 4/4 - - - - - - - rs1867575 - -1 - EntrezGene HGNC:30320 - - - - - RefSeq - G G - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000403062 CTCF_binding_site - - - - - - - - - rs1867575 - - - - - - - - - - - - - - - - - 0.8950 - - - - - - - - - . 10:48459670-48459670 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000944395 enhancer - - - - - - - - - rs1867575 - - - - - - - - - - - - - - - - - 0.8950 - - - - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 ENSG00000128815 Transcript ENST00000325239.12 protein_coding 24/62 - - - 4433 4287 1429 A gcC/gcT rs41282011,COSV57424393 - 1 - HGNC HGNC:29323 NM_001394531.1 - 5 P1 - Ensembl - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript NM_001370153.1 protein_coding 24/29 - - - 4433 4287 1429 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript NM_001394531.1 protein_coding 24/62 - - - 4433 4287 1429 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 ENST00000325239.12 - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript NM_020945.2 protein_coding 24/62 - - - 4374 4287 1429 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript XM_011539986.4 protein_coding 24/62 - - - 4393 4287 1429 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript XM_011539987.3 protein_coding 24/62 - - - 4393 4287 1429 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript XM_011539988.3 protein_coding 25/63 - - - 4517 4287 1429 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript XM_011539990.4 protein_coding 24/44 - - - 4393 4287 1429 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript XM_011539991.4 protein_coding 24/36 - - - 4393 4287 1429 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript XM_011539992.3 protein_coding 24/29 - - - 4393 4287 1429 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript XM_017016463.2 protein_coding 25/63 - - - 4477 4287 1429 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript XM_017016464.1 protein_coding 6/44 - - - 793 711 237 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript XM_047425565.1 protein_coding 25/63 - - - 4458 4287 1429 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48796327-48796327 T synonymous_variant LOW WDFY4 57705 Transcript XM_047425566.1 protein_coding 16/54 - - - 2786 2649 883 A gcC/gcT rs41282011,COSV57424393 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.1174 - 0,1 0,1 - - - - - - . 10:48832565-48832565 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW WDFY4 ENSG00000128815 Transcript ENST00000325239.12 protein_coding - 38/61 - - - - - - - rs3747872,COSV55422555,COSV55441675 - 1 - HGNC HGNC:29323 NM_001394531.1 - 5 P1 - Ensembl - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G downstream_gene_variant MODIFIER - ENSG00000286993 Transcript ENST00000664118.1 lncRNA - - - - - - - - - rs3747872,COSV55422555,COSV55441675 2976 -1 - - - - - - - - Ensembl - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW WDFY4 57705 Transcript NM_001394531.1 protein_coding - 38/61 - - - - - - - rs3747872,COSV55422555,COSV55441675 - 1 - EntrezGene HGNC:29323 ENST00000325239.12 - - - - RefSeq - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW WDFY4 57705 Transcript NM_020945.2 protein_coding - 38/61 - - - - - - - rs3747872,COSV55422555,COSV55441675 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW WDFY4 57705 Transcript XM_011539986.4 protein_coding - 38/61 - - - - - - - rs3747872,COSV55422555,COSV55441675 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW WDFY4 57705 Transcript XM_011539987.3 protein_coding - 38/61 - - - - - - - rs3747872,COSV55422555,COSV55441675 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW WDFY4 57705 Transcript XM_011539988.3 protein_coding - 39/62 - - - - - - - rs3747872,COSV55422555,COSV55441675 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW WDFY4 57705 Transcript XM_011539990.4 protein_coding - 38/43 - - - - - - - rs3747872,COSV55422555,COSV55441675 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW WDFY4 57705 Transcript XM_017016463.2 protein_coding - 39/62 - - - - - - - rs3747872,COSV55422555,COSV55441675 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW WDFY4 57705 Transcript XM_017016464.1 protein_coding - 20/43 - - - - - - - rs3747872,COSV55422555,COSV55441675 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW WDFY4 57705 Transcript XM_047425565.1 protein_coding - 39/62 - - - - - - - rs3747872,COSV55422555,COSV55441675 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW WDFY4 57705 Transcript XM_047425566.1 protein_coding - 30/53 - - - - - - - rs3747872,COSV55422555,COSV55441675 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G intron_variant,non_coding_transcript_variant MODIFIER LOC105378299 105378299 Transcript XR_945951.3 lncRNA - 4/4 - - - - - - - rs3747872,COSV55422555,COSV55441675 - -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48832565-48832565 G intron_variant,non_coding_transcript_variant MODIFIER LOC105378299 105378299 Transcript XR_945952.3 lncRNA - 5/5 - - - - - - - rs3747872,COSV55422555,COSV55441675 - -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.5232 - 0,1,1 0,1,1 - - - - - - . 10:48946834-48946834 G intron_variant MODIFIER WDFY4 ENSG00000128815 Transcript ENST00000325239.12 protein_coding - 50/61 - - - - - - - rs77802534 - 1 - HGNC HGNC:29323 NM_001394531.1 - 5 P1 - Ensembl - C C - - - 0.0523 - - - - - - - - - . 10:48946834-48946834 G intron_variant,non_coding_transcript_variant MODIFIER WDFY4 ENSG00000128815 Transcript ENST00000465910.5 retained_intron - 1/11 - - - - - - - rs77802534 - 1 - HGNC HGNC:29323 - - 2 - - Ensembl - C C - - - 0.0523 - - - - - - - - - . 10:48946834-48946834 G intron_variant MODIFIER WDFY4 57705 Transcript NM_001394531.1 protein_coding - 50/61 - - - - - - - rs77802534 - 1 - EntrezGene HGNC:29323 ENST00000325239.12 - - - - RefSeq - C C - - - 0.0523 - - - - - - - - - . 10:48946834-48946834 G intron_variant MODIFIER WDFY4 57705 Transcript NM_020945.2 protein_coding - 50/61 - - - - - - - rs77802534 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.0523 - - - - - - - - - . 10:48946834-48946834 G intron_variant MODIFIER WDFY4 57705 Transcript XM_011539986.4 protein_coding - 50/61 - - - - - - - rs77802534 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.0523 - - - - - - - - - . 10:48946834-48946834 G intron_variant MODIFIER WDFY4 57705 Transcript XM_011539987.3 protein_coding - 50/61 - - - - - - - rs77802534 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.0523 - - - - - - - - - . 10:48946834-48946834 G intron_variant MODIFIER WDFY4 57705 Transcript XM_011539988.3 protein_coding - 51/62 - - - - - - - rs77802534 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.0523 - - - - - - - - - . 10:48946834-48946834 G intron_variant MODIFIER WDFY4 57705 Transcript XM_017016463.2 protein_coding - 51/62 - - - - - - - rs77802534 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.0523 - - - - - - - - - . 10:48946834-48946834 G intron_variant MODIFIER WDFY4 57705 Transcript XM_017016464.1 protein_coding - 32/43 - - - - - - - rs77802534 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.0523 - - - - - - - - - . 10:48946834-48946834 G intron_variant MODIFIER WDFY4 57705 Transcript XM_047425565.1 protein_coding - 51/62 - - - - - - - rs77802534 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.0523 - - - - - - - - - . 10:48946834-48946834 G intron_variant MODIFIER WDFY4 57705 Transcript XM_047425566.1 protein_coding - 42/53 - - - - - - - rs77802534 - 1 - EntrezGene HGNC:29323 - - - - - RefSeq - C C - - - 0.0523 - - - - - - - - - . 10:48946834-48946834 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000403185 enhancer - - - - - - - - - rs77802534 - - - - - - - - - - - - - - - - - 0.0523 - - - - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 ENSG00000204161 Transcript ENST00000374148.1 protein_coding - 3/5 - - - - - - - rs9418839,COSV65153253 - -1 - HGNC HGNC:27274 - - 1 - - Ensembl - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 ENSG00000204161 Transcript ENST00000374151.7 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - HGNC HGNC:27274 - - 5 - - Ensembl - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 ENSG00000204161 Transcript ENST00000374153.7 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - HGNC HGNC:27274 NM_001288740.3 - 3 - - Ensembl - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C synonymous_variant,NMD_transcript_variant LOW TMEM273 ENSG00000204161 Transcript ENST00000374156.8 nonsense_mediated_decay 3/6 - - - 504 396 132 Q caA/caG rs9418839,COSV65153253 - -1 - HGNC HGNC:27274 - - 1 - - Ensembl - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 ENSG00000204161 Transcript ENST00000453436.5 protein_coding - 3/4 - - - - - - - rs9418839,COSV65153253 - -1 cds_start_NF HGNC HGNC:27274 - - 5 - - Ensembl - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C non_coding_transcript_exon_variant MODIFIER TMEM273 ENSG00000204161 Transcript ENST00000470884.1 protein_coding_CDS_not_defined 3/3 - - - 582 - - - - rs9418839,COSV65153253 - -1 - HGNC HGNC:27274 - - 2 - - Ensembl - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 ENSG00000204161 Transcript ENST00000474718.6 protein_coding - 3/5 - - - - - - - rs9418839,COSV65153253 - -1 - HGNC HGNC:27274 - - 1 P1 - Ensembl - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant,non_coding_transcript_variant MODIFIER TMEM273 ENSG00000204161 Transcript ENST00000488276.1 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs9418839,COSV65153253 - -1 - HGNC HGNC:27274 - - 3 - - Ensembl - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 ENSG00000204161 Transcript ENST00000707141.1 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - HGNC HGNC:27274 - - - - - Ensembl - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript NM_001010863.4 protein_coding - 3/5 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript NM_001288740.3 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 ENST00000374153.7 - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript NM_001288741.3 protein_coding - 3/4 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript NM_001288742.3 protein_coding - 3/4 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript NM_001288743.3 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript NM_001353330.2 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript NM_001353331.2 protein_coding - 3/5 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_011539378.3 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_011539379.2 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_011539382.2 protein_coding - 3/5 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_011539384.2 protein_coding - 3/5 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_011539385.2 protein_coding - 3/4 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_017015792.2 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_017015793.2 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_017015794.2 protein_coding - 3/5 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_017015796.2 protein_coding - 3/4 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_017015797.2 protein_coding - 3/4 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_024447853.2 protein_coding - 3/4 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_047424684.1 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_047424685.1 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_047424686.1 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49166774-49166774 C intron_variant MODIFIER TMEM273 170371 Transcript XM_047424687.1 protein_coding - 3/6 - - - - - - - rs9418839,COSV65153253 - -1 - EntrezGene HGNC:27274 - - - - - RefSeq - T T - - - 0.3910 - 0,1 0,1 - - - - - - . 10:49323169-49323169 G missense_variant MODERATE C10orf71 ENSG00000177354 Transcript ENST00000374144.8 protein_coding 3/3 - - - 935 624 208 N/K aaC/aaG rs4838383,COSV60508826 - 1 - HGNC HGNC:26973 NM_001135196.2 - 1 P1 - Ensembl - C C - tolerated(0.31) benign(0.057) 0.0855 - 0,1 0,1 - - - - - - . 10:49323169-49323169 G missense_variant MODERATE C10orf71 118461 Transcript NM_001135196.2 protein_coding 3/3 - - - 935 624 208 N/K aaC/aaG rs4838383,COSV60508826 - 1 - EntrezGene HGNC:26973 ENST00000374144.8 - - - - RefSeq - C C - tolerated(0.31) benign(0.057) 0.0855 - 0,1 0,1 - - - - - - . 10:49323169-49323169 G missense_variant MODERATE C10orf71 118461 Transcript XM_005269476.5 protein_coding 3/3 - - - 1028 624 208 N/K aaC/aaG rs4838383,COSV60508826 - 1 - EntrezGene HGNC:26973 - - - - - RefSeq - C C - tolerated(0.31) benign(0.057) 0.0855 - 0,1 0,1 - - - - - - . 10:49323169-49323169 G missense_variant MODERATE C10orf71 118461 Transcript XM_005269477.4 protein_coding 3/3 - - - 991 624 208 N/K aaC/aaG rs4838383,COSV60508826 - 1 - EntrezGene HGNC:26973 - - - - - RefSeq - C C - tolerated(0.31) benign(0.057) 0.0855 - 0,1 0,1 - - - - - - . 10:49323169-49323169 G missense_variant MODERATE C10orf71 118461 Transcript XM_005269478.5 protein_coding 3/3 - - - 975 624 208 N/K aaC/aaG rs4838383,COSV60508826 - 1 - EntrezGene HGNC:26973 - - - - - RefSeq - C C - tolerated(0.31) benign(0.057) 0.0855 - 0,1 0,1 - - - - - - . 10:49323169-49323169 G missense_variant MODERATE C10orf71 118461 Transcript XM_017015619.2 protein_coding 4/4 - - - 564 186 62 N/K aaC/aaG rs4838383,COSV60508826 - 1 - EntrezGene HGNC:26973 - - - - - RefSeq - C C - - - 0.0855 - 0,1 0,1 - - - - - - . 10:49323169-49323169 G missense_variant MODERATE C10orf71 118461 Transcript XM_047424549.1 protein_coding 4/4 - - - 620 186 62 N/K aaC/aaG rs4838383,COSV60508826 - 1 - EntrezGene HGNC:26973 - - - - - RefSeq - C C - - - 0.0855 - 0,1 0,1 - - - - - - . 10:49323169-49323169 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000944488 enhancer - - - - - - - - - rs4838383,COSV60508826 - - - - - - - - - - - - - - - - - 0.0855 - 0,1 0,1 - - - - - - . 10:49323927-49323927 C missense_variant MODERATE C10orf71 ENSG00000177354 Transcript ENST00000374144.8 protein_coding 3/3 - - - 1693 1382 461 D/A gAc/gCc rs45554335,COSV60510600 - 1 - HGNC HGNC:26973 NM_001135196.2 - 1 P1 - Ensembl - A A - tolerated(0.13) benign(0.024) 0.1765 benign 0,1 1,1 36050321 - - - - - . 10:49323927-49323927 C missense_variant MODERATE C10orf71 118461 Transcript NM_001135196.2 protein_coding 3/3 - - - 1693 1382 461 D/A gAc/gCc rs45554335,COSV60510600 - 1 - EntrezGene HGNC:26973 ENST00000374144.8 - - - - RefSeq - A A - tolerated(0.13) benign(0.024) 0.1765 benign 0,1 1,1 36050321 - - - - - . 10:49323927-49323927 C missense_variant MODERATE C10orf71 118461 Transcript XM_005269476.5 protein_coding 3/3 - - - 1786 1382 461 D/A gAc/gCc rs45554335,COSV60510600 - 1 - EntrezGene HGNC:26973 - - - - - RefSeq - A A - tolerated(0.13) benign(0.024) 0.1765 benign 0,1 1,1 36050321 - - - - - . 10:49323927-49323927 C missense_variant MODERATE C10orf71 118461 Transcript XM_005269477.4 protein_coding 3/3 - - - 1749 1382 461 D/A gAc/gCc rs45554335,COSV60510600 - 1 - EntrezGene HGNC:26973 - - - - - RefSeq - A A - tolerated(0.13) benign(0.024) 0.1765 benign 0,1 1,1 36050321 - - - - - . 10:49323927-49323927 C missense_variant MODERATE C10orf71 118461 Transcript XM_005269478.5 protein_coding 3/3 - - - 1733 1382 461 D/A gAc/gCc rs45554335,COSV60510600 - 1 - EntrezGene HGNC:26973 - - - - - RefSeq - A A - tolerated(0.13) benign(0.024) 0.1765 benign 0,1 1,1 36050321 - - - - - . 10:49323927-49323927 C missense_variant MODERATE C10orf71 118461 Transcript XM_017015619.2 protein_coding 4/4 - - - 1322 944 315 D/A gAc/gCc rs45554335,COSV60510600 - 1 - EntrezGene HGNC:26973 - - - - - RefSeq - A A - - - 0.1765 benign 0,1 1,1 36050321 - - - - - . 10:49323927-49323927 C missense_variant MODERATE C10orf71 118461 Transcript XM_047424549.1 protein_coding 4/4 - - - 1378 944 315 D/A gAc/gCc rs45554335,COSV60510600 - 1 - EntrezGene HGNC:26973 - - - - - RefSeq - A A - - - 0.1765 benign 0,1 1,1 36050321 - - - - - . 10:49440908-49440908 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000235939 Transcript ENST00000423283.1 lncRNA - 1/1 - - - - - - - rs7100734 - 1 - - - - - 3 - - Ensembl - G G - - - 0.3986 - - - - - - - - - . 10:49440908-49440908 C 3_prime_UTR_variant MODIFIER ERCC6 2074 Transcript NM_001346440.2 protein_coding 21/21 - - - 22559 - - - - rs7100734 - -1 - EntrezGene HGNC:3438 - - - - - RefSeq - G G - - - 0.3986 - - - - - - - - - . 10:49458762-49458762 G 3_prime_UTR_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000355832.10 protein_coding 21/21 - - - 4709 - - - - rs4253231,COSV63388659 - -1 - HGNC HGNC:3438 NM_000124.4 - 1 P1 - Ensembl - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49458762-49458762 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000235939 Transcript ENST00000423283.1 lncRNA - 1/1 - - - - - - - rs4253231,COSV63388659 - 1 - - - - - 3 - - Ensembl - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49458762-49458762 G downstream_gene_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000465653.1 protein_coding_CDS_not_defined - - - - - - - - - rs4253231,COSV63388659 1262 -1 - HGNC HGNC:3438 - - 3 - - Ensembl - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49458762-49458762 G non_coding_transcript_exon_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000623073.3 retained_intron 15/15 - - - 8919 - - - - rs4253231,COSV63388659 - -1 - HGNC HGNC:3438 - - 1 - - Ensembl - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49458762-49458762 G downstream_gene_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000623115.3 protein_coding_CDS_not_defined - - - - - - - - - rs4253231,COSV63388659 26 -1 - HGNC HGNC:3438 - - 2 - - Ensembl - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49458762-49458762 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000624341.3 nonsense_mediated_decay 11/11 - - - 2367 - - - - rs4253231,COSV63388659 - -1 cds_start_NF HGNC HGNC:3438 - - 1 - - Ensembl - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49458762-49458762 G non_coding_transcript_exon_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000679552.1 retained_intron 4/4 - - - 2744 - - - - rs4253231,COSV63388659 - -1 - HGNC HGNC:3438 - - - - - Ensembl - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49458762-49458762 G non_coding_transcript_exon_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000679871.1 protein_coding_CDS_not_defined 6/6 - - - 1681 - - - - rs4253231,COSV63388659 - -1 - HGNC HGNC:3438 - - - - - Ensembl - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49458762-49458762 G non_coding_transcript_exon_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000679974.1 protein_coding_CDS_not_defined 5/5 - - - 1584 - - - - rs4253231,COSV63388659 - -1 - HGNC HGNC:3438 - - - - - Ensembl - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49458762-49458762 G non_coding_transcript_exon_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000681632.1 retained_intron 18/18 - - - 5938 - - - - rs4253231,COSV63388659 - -1 - HGNC HGNC:3438 - - - - - Ensembl - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49458762-49458762 G 3_prime_UTR_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000681659.1 protein_coding 20/20 - - - 4480 - - - - rs4253231,COSV63388659 - -1 - HGNC HGNC:3438 - - - - - Ensembl - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49458762-49458762 G 3_prime_UTR_variant MODIFIER ERCC6 2074 Transcript NM_000124.4 protein_coding 21/21 - - - 4709 - - - - rs4253231,COSV63388659 - -1 - EntrezGene HGNC:3438 ENST00000355832.10 - - - - RefSeq - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49458762-49458762 G 3_prime_UTR_variant MODIFIER ERCC6 2074 Transcript NM_001346440.2 protein_coding 21/21 - - - 4705 - - - - rs4253231,COSV63388659 - -1 - EntrezGene HGNC:3438 - - - - - RefSeq - A A - - - 0.1408 benign 0,1 1,1 20042077,33148303 - - - - - . 10:49515638-49515638 A intron_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000355832.10 protein_coding - 5/20 - - - - - - - rs4253073 - -1 - HGNC HGNC:3438 NM_000124.4 - 1 P1 - Ensembl - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515638-49515638 A synonymous_variant LOW ERCC6 ENSG00000225830 Transcript ENST00000447839.7 protein_coding 6/6 - - - 3055 2881 961 L Ctg/Ttg rs4253073 - -1 - HGNC HGNC:3438 - NM_001277058.2 2 - - Ensembl - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515638-49515638 A synonymous_variant LOW ERCC6 ENSG00000225830 Transcript ENST00000515869.1 protein_coding 6/6 - - - 3002 2881 961 L Ctg/Ttg rs4253073 - -1 - HGNC HGNC:3438 - - 2 - - Ensembl - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515638-49515638 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000679596.1 nonsense_mediated_decay 5/5 - - - 2843 - - - - rs4253073 - -1 - HGNC HGNC:3438 - - - - - Ensembl - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515638-49515638 A intron_variant,non_coding_transcript_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000679811.1 retained_intron - 5/5 - - - - - - - rs4253073 - -1 - HGNC HGNC:3438 - - - - - Ensembl - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515638-49515638 A 3_prime_UTR_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000680107.1 protein_coding 5/5 - - - 2271 - - - - rs4253073 - -1 - HGNC HGNC:3438 - - - - - Ensembl - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515638-49515638 A intron_variant,non_coding_transcript_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000681632.1 retained_intron - 5/17 - - - - - - - rs4253073 - -1 - HGNC HGNC:3438 - - - - - Ensembl - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515638-49515638 A intron_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000681659.1 protein_coding - 5/19 - - - - - - - rs4253073 - -1 - HGNC HGNC:3438 - - - - - Ensembl - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515638-49515638 A intron_variant MODIFIER ERCC6 2074 Transcript NM_000124.4 protein_coding - 5/20 - - - - - - - rs4253073 - -1 - EntrezGene HGNC:3438 ENST00000355832.10 - - - - RefSeq - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515638-49515638 A synonymous_variant LOW ERCC6 2074 Transcript NM_001277058.2 protein_coding 6/6 - - - 3055 2881 961 L Ctg/Ttg rs4253073 - -1 - EntrezGene HGNC:3438 - ENST00000447839.7 - - - RefSeq - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515638-49515638 A synonymous_variant LOW ERCC6 2074 Transcript NM_001277059.2 protein_coding 6/6 - - - 3002 2881 961 L Ctg/Ttg rs4253073 - -1 - EntrezGene HGNC:3438 - - - - - RefSeq - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515638-49515638 A intron_variant MODIFIER ERCC6 2074 Transcript NM_001346440.2 protein_coding - 5/20 - - - - - - - rs4253073 - -1 - EntrezGene HGNC:3438 - - - - - RefSeq - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515638-49515638 A synonymous_variant LOW PGBD3 267004 Transcript NM_170753.3 protein_coding 2/2 - - - 1733 1477 493 L Ctg/Ttg rs4253073 - -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.8934 benign - 1 - - - - - - . 10:49515970-49515970 T intron_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000355832.10 protein_coding - 5/20 - - - - - - - rs4253072 - -1 - HGNC HGNC:3438 NM_000124.4 - 1 P1 - Ensembl - C C - - - 0.9962 benign - 1 - - - - - - . 10:49515970-49515970 T missense_variant MODERATE ERCC6 ENSG00000225830 Transcript ENST00000447839.7 protein_coding 6/6 - - - 2723 2549 850 R/K aGa/aAa rs4253072 - -1 - HGNC HGNC:3438 - NM_001277058.2 2 - - Ensembl - C C - tolerated_low_confidence(1) unknown(0) 0.9962 benign - 1 - - - - - - . 10:49515970-49515970 T missense_variant MODERATE ERCC6 ENSG00000225830 Transcript ENST00000515869.1 protein_coding 6/6 - - - 2670 2549 850 R/K aGa/aAa rs4253072 - -1 - HGNC HGNC:3438 - - 2 - - Ensembl - C C - tolerated_low_confidence(1) unknown(0) 0.9962 benign - 1 - - - - - - . 10:49515970-49515970 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000679596.1 nonsense_mediated_decay 5/5 - - - 2511 - - - - rs4253072 - -1 - HGNC HGNC:3438 - - - - - Ensembl - C C - - - 0.9962 benign - 1 - - - - - - . 10:49515970-49515970 T intron_variant,non_coding_transcript_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000679811.1 retained_intron - 5/5 - - - - - - - rs4253072 - -1 - HGNC HGNC:3438 - - - - - Ensembl - C C - - - 0.9962 benign - 1 - - - - - - . 10:49515970-49515970 T 3_prime_UTR_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000680107.1 protein_coding 5/5 - - - 1939 - - - - rs4253072 - -1 - HGNC HGNC:3438 - - - - - Ensembl - C C - - - 0.9962 benign - 1 - - - - - - . 10:49515970-49515970 T intron_variant,non_coding_transcript_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000681632.1 retained_intron - 5/17 - - - - - - - rs4253072 - -1 - HGNC HGNC:3438 - - - - - Ensembl - C C - - - 0.9962 benign - 1 - - - - - - . 10:49515970-49515970 T intron_variant MODIFIER ERCC6 ENSG00000225830 Transcript ENST00000681659.1 protein_coding - 5/19 - - - - - - - rs4253072 - -1 - HGNC HGNC:3438 - - - - - Ensembl - C C - - - 0.9962 benign - 1 - - - - - - . 10:49515970-49515970 T intron_variant MODIFIER ERCC6 2074 Transcript NM_000124.4 protein_coding - 5/20 - - - - - - - rs4253072 - -1 - EntrezGene HGNC:3438 ENST00000355832.10 - - - - RefSeq - C C - - - 0.9962 benign - 1 - - - - - - . 10:49515970-49515970 T missense_variant MODERATE ERCC6 2074 Transcript NM_001277058.2 protein_coding 6/6 - - - 2723 2549 850 R/K aGa/aAa rs4253072 - -1 - EntrezGene HGNC:3438 - ENST00000447839.7 - - - RefSeq - C C - tolerated_low_confidence(1) unknown(0) 0.9962 benign - 1 - - - - - - . 10:49515970-49515970 T missense_variant MODERATE ERCC6 2074 Transcript NM_001277059.2 protein_coding 6/6 - - - 2670 2549 850 R/K aGa/aAa rs4253072 - -1 - EntrezGene HGNC:3438 - - - - - RefSeq - C C - tolerated_low_confidence(1) unknown(0) 0.9962 benign - 1 - - - - - - . 10:49515970-49515970 T intron_variant MODIFIER ERCC6 2074 Transcript NM_001346440.2 protein_coding - 5/20 - - - - - - - rs4253072 - -1 - EntrezGene HGNC:3438 - - - - - RefSeq - C C - - - 0.9962 benign - 1 - - - - - - . 10:49515970-49515970 T missense_variant MODERATE PGBD3 267004 Transcript NM_170753.3 protein_coding 2/2 - - - 1401 1145 382 R/K aGa/aAa rs4253072 - -1 - EntrezGene - - - - - - RefSeq - C C - tolerated(1) benign(0) 0.9962 benign - 1 - - - - - - . 10:49708438-49708438 G missense_variant MODERATE C10orf53 ENSG00000178645 Transcript ENST00000374112.7 protein_coding 3/3 - - - 307 295 99 R/G Agg/Ggg rs1258236 - 1 - HGNC HGNC:27421 - - 2 - - Ensembl - A A - tolerated_low_confidence(1) unknown(0) 0.8081 - - - - - - - - - . 10:49708438-49708438 G missense_variant MODERATE C10orf53 282966 Transcript NM_182554.4 protein_coding 3/3 - - - 342 295 99 R/G Agg/Ggg rs1258236 - 1 - EntrezGene HGNC:27421 - - - - - RefSeq - A A - tolerated_low_confidence(1) unknown(0) 0.8081 - - - - - - - - - . 10:49708496-49708496 T missense_variant MODERATE C10orf53 ENSG00000178645 Transcript ENST00000374112.7 protein_coding 3/3 - - - 365 353 118 T/I aCt/aTt rs4838554,COSV65108567 - 1 - HGNC HGNC:27421 - - 2 - - Ensembl - C C - tolerated_low_confidence(1) unknown(0) 0.3910 - 0,1 0,1 - - - - - - . 10:49708496-49708496 T missense_variant MODERATE C10orf53 282966 Transcript NM_182554.4 protein_coding 3/3 - - - 400 353 118 T/I aCt/aTt rs4838554,COSV65108567 - 1 - EntrezGene HGNC:27421 - - - - - RefSeq - C C - tolerated_low_confidence(1) unknown(0) 0.3910 - 0,1 0,1 - - - - - - . 10:49772426-49772426 T non_coding_transcript_exon_variant MODIFIER MAPK6P6 ENSG00000226389 Transcript ENST00000420752.1 processed_pseudogene 1/2 - - - 586 - - - - - - 1 - HGNC HGNC:18978 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:49945053-49945053 C intron_variant MODIFIER PARG ENSG00000227345 Transcript ENST00000402038.7 protein_coding - 1/18 - - - - - - - rs148307270 - -1 - HGNC HGNC:8605 - - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:49945053-49945053 C synonymous_variant,NMD_transcript_variant LOW TIMM23B ENSG00000204152 Transcript ENST00000478381.5 nonsense_mediated_decay 3/8 - - - 398 252 84 V gtG/gtC rs148307270 - 1 - HGNC HGNC:23581 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:49945053-49945053 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B ENSG00000204152 Transcript ENST00000483296.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs148307270 - 1 - HGNC HGNC:23581 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG ENSG00000227345 Transcript ENST00000610922.1 nonsense_mediated_decay - - - - - - - - - rs148307270 3055 -1 - HGNC HGNC:8605 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG ENSG00000227345 Transcript ENST00000611974.4 protein_coding_CDS_not_defined - - - - - - - - - rs148307270 3083 -1 - HGNC HGNC:8605 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG ENSG00000227345 Transcript ENST00000614063.4 nonsense_mediated_decay - - - - - - - - - rs148307270 3067 -1 - HGNC HGNC:8605 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG ENSG00000227345 Transcript ENST00000616448.2 protein_coding - - - - - - - - - rs148307270 3026 -1 - HGNC HGNC:8605 NM_003631.5 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:49945053-49945053 C missense_variant MODERATE TIMM23B ENSG00000204152 Transcript ENST00000651259.3 protein_coding 2/7 - - - 270 128 43 C/S tGt/tCt rs148307270 - 1 - HGNC HGNC:23581 NM_001290117.2 - - P1 - Ensembl - G G - tolerated(1) benign(0) - - - - - - - - - - . 10:49945053-49945053 C missense_variant MODERATE TIMM23B ENSG00000204152 Transcript ENST00000652716.1 protein_coding 2/5 - - - 242 128 43 C/S tGt/tCt rs148307270 - 1 - HGNC HGNC:23581 - - - - - Ensembl - G G - tolerated(1) benign(0) - - - - - - - - - - . 10:49945053-49945053 C missense_variant MODERATE TIMM23B 100652748 Transcript NM_001290117.2 protein_coding 2/7 - - - 270 128 43 C/S tGt/tCt rs148307270 - 1 - EntrezGene HGNC:23581 ENST00000651259.3 - - - - RefSeq - G G - tolerated(1) benign(0) - - - - - - - - - - . 10:49945053-49945053 C missense_variant MODERATE TIMM23B 100652748 Transcript NM_001290118.2 protein_coding 2/5 - - - 270 128 43 C/S tGt/tCt rs148307270 - 1 - EntrezGene HGNC:23581 - - - - - RefSeq - G G - tolerated(1) benign(0) - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript NM_001303486.3 protein_coding - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript NM_001303487.3 protein_coding - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript NM_001303489.3 protein_coding - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript NM_001324381.3 protein_coding - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C intron_variant MODIFIER TIMM23B 100652748 Transcript NM_001365871.1 protein_coding - 1/5 - - - - - - - rs148307270 - 1 - EntrezGene HGNC:23581 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript NM_003631.5 protein_coding - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 ENST00000616448.2 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C non_coding_transcript_exon_variant MODIFIER TIMM23B 100652748 Transcript NR_110767.2 misc_RNA 3/8 - - - 394 - - - - rs148307270 - 1 - EntrezGene HGNC:23581 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript NR_130168.3 misc_RNA - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript NR_130169.3 misc_RNA - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript NR_136752.3 misc_RNA - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript NR_136753.3 misc_RNA - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript NR_136754.3 misc_RNA - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript NR_136755.3 misc_RNA - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript NR_136756.3 misc_RNA - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C non_coding_transcript_exon_variant MODIFIER TIMM23B 100652748 Transcript NR_158651.1 misc_RNA 2/8 - - - 270 - - - - rs148307270 - 1 - EntrezGene HGNC:23581 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B 100652748 Transcript NR_158652.1 misc_RNA - 1/6 - - - - - - - rs148307270 - 1 - EntrezGene HGNC:23581 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158654.1 lncRNA - 1/12 - - - - - - - rs148307270 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158656.1 lncRNA 2/14 - - - 270 - - - - rs148307270 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158657.1 lncRNA 3/15 - - - 394 - - - - rs148307270 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158658.1 lncRNA - 1/14 - - - - - - - rs148307270 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158659.1 lncRNA 2/15 - - - 270 - - - - rs148307270 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158660.1 lncRNA 3/17 - - - 394 - - - - rs148307270 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158661.1 lncRNA 3/17 - - - 394 - - - - rs148307270 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript XM_011540305.2 protein_coding - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript XM_047425921.1 protein_coding - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49945053-49945053 C upstream_gene_variant MODIFIER PARG 8505 Transcript XR_007062014.1 misc_RNA - - - - - - - - - rs148307270 3026 -1 - EntrezGene HGNC:8605 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:49972549-49972549 A upstream_gene_variant MODIFIER PARG ENSG00000227345 Transcript ENST00000402038.7 protein_coding - - - - - - - - - rs201578379 2346 -1 - HGNC HGNC:8605 - - 1 P1 - Ensembl - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A upstream_gene_variant MODIFIER TIMM23B-AGAP6 ENSG00000178440 Transcript ENST00000429104.1 protein_coding_CDS_not_defined - - - - - - - - - rs201578379 214 1 - HGNC HGNC:45009 - - 5 - - Ensembl - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A upstream_gene_variant MODIFIER TIMM23B-AGAP6 ENSG00000178440 Transcript ENST00000444438.2 protein_coding_CDS_not_defined - - - - - - - - - rs201578379 286 1 - HGNC HGNC:45009 - - 5 - - Ensembl - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant,NMD_transcript_variant MODIFIER TIMM23B ENSG00000204152 Transcript ENST00000478381.5 nonsense_mediated_decay - 7/7 - - - - - - - rs201578379 - 1 - HGNC HGNC:23581 - - 2 - - Ensembl - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B ENSG00000204152 Transcript ENST00000483296.5 protein_coding_CDS_not_defined - 6/6 - - - - - - - rs201578379 - 1 - HGNC HGNC:23581 - - 2 - - Ensembl - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant MODIFIER TIMM23B ENSG00000204152 Transcript ENST00000651259.3 protein_coding - 6/6 - - - - - - - rs201578379 - 1 - HGNC HGNC:23581 NM_001290117.2 - - P1 - Ensembl - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant MODIFIER TIMM23B ENSG00000204152 Transcript ENST00000652716.1 protein_coding - 4/4 - - - - - - - rs201578379 - 1 - HGNC HGNC:23581 - - - - - Ensembl - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant MODIFIER TIMM23B 100652748 Transcript NM_001290117.2 protein_coding - 6/6 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:23581 ENST00000651259.3 - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant MODIFIER TIMM23B 100652748 Transcript NM_001290118.2 protein_coding - 4/4 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:23581 - - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant MODIFIER TIMM23B 100652748 Transcript NM_001365871.1 protein_coding - 5/5 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:23581 - - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B 100652748 Transcript NR_110767.2 misc_RNA - 7/7 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:23581 - - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B 100652748 Transcript NR_158651.1 misc_RNA - 7/7 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:23581 - - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B 100652748 Transcript NR_158652.1 misc_RNA - 6/6 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:23581 - - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158654.1 lncRNA - 5/12 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158656.1 lncRNA - 6/13 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158657.1 lncRNA - 7/14 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158658.1 lncRNA - 5/14 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158659.1 lncRNA - 7/14 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158660.1 lncRNA - 7/16 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49972549-49972549 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158661.1 lncRNA - 8/16 - - - - - - - rs201578379 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.1202 - - - - - - - - - . 10:49988768-49988770 C frameshift_variant HIGH AGAP6 ENSG00000204149 Transcript ENST00000311652.11 protein_coding 1/8 - - - 55-56 55-56 19 Q/PX cag/cCag COSV65017401 - 1 - HGNC HGNC:23466 - - 1 - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C frameshift_variant HIGH AGAP6 ENSG00000204149 Transcript ENST00000374056.10 protein_coding 1/7 - - - 453-454 55-56 19 Q/PX cag/cCag COSV65017401 - 1 - HGNC HGNC:23466 - - 1 A2 - Ensembl - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C frameshift_variant HIGH AGAP6 ENSG00000204149 Transcript ENST00000412531.7 protein_coding 1/8 - - - 365-366 55-56 19 Q/PX cag/cCag COSV65017401 - 1 - HGNC HGNC:23466 NM_001077665.3 - 1 P2 - Ensembl - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C non_coding_transcript_exon_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000618025.4 protein_coding_CDS_not_defined 4/10 - - - 408-409 - - - - COSV65017401 - 1 - HGNC HGNC:23466 - - 2 - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C non_coding_transcript_exon_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000618171.5 retained_intron 1/7 - - - 167-168 - - - - COSV65017401 - 1 - HGNC HGNC:23466 - - 5 - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C non_coding_transcript_exon_variant MODIFIER - ENSG00000285803 Transcript ENST00000650407.1 lncRNA 1/4 - - - 129-130 - - - - COSV65017401 - -1 - - - - - - - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C upstream_gene_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000679578.1 retained_intron - - - - - - - - - COSV65017401 2606 1 - HGNC HGNC:23466 - - - - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C frameshift_variant HIGH AGAP6 ENSG00000204149 Transcript ENST00000679810.1 protein_coding 1/9 - - - 403-404 55-56 19 Q/PX cag/cCag COSV65017401 - 1 - HGNC HGNC:23466 - - - - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C frameshift_variant,NMD_transcript_variant HIGH AGAP6 ENSG00000204149 Transcript ENST00000680115.1 nonsense_mediated_decay 1/10 - - - 55-56 55-56 19 Q/PX cag/cCag COSV65017401 - 1 - HGNC HGNC:23466 - - - - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C frameshift_variant HIGH AGAP6 414189 Transcript NM_001077665.3 protein_coding 1/8 - - - 365-366 55-56 19 Q/PX cag/cCag COSV65017401 - 1 - EntrezGene HGNC:23466 ENST00000412531.7 - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158654.1 lncRNA - 6/12 - - - - - - - COSV65017401 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158656.1 lncRNA - 7/13 - - - - - - - COSV65017401 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158657.1 lncRNA - 8/14 - - - - - - - COSV65017401 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158658.1 lncRNA 8/15 - - - 818-819 - - - - COSV65017401 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158659.1 lncRNA - 8/14 - - - - - - - COSV65017401 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158660.1 lncRNA 10/17 - - - 1001-1002 - - - - COSV65017401 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158661.1 lncRNA 10/17 - - - 1281-1282 - - - - COSV65017401 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C non_coding_transcript_exon_variant MODIFIER AGAP6 414189 Transcript NR_171667.1 misc_RNA 1/9 - - - 403-404 - - - - COSV65017401 - 1 - EntrezGene HGNC:23466 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:49988768-49988770 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000403451 CTCF_binding_site - - - - - - - - - COSV65017401 - - - - - - - - - - - - - - - - - - - 1 1 - - - - - - . 10:49988824-49988824 G missense_variant MODERATE AGAP6 ENSG00000204149 Transcript ENST00000311652.11 protein_coding 1/8 - - - 109 109 37 R/G Agg/Ggg rs75102885,COSV65017327 - 1 - HGNC HGNC:23466 - - 1 - - Ensembl - A A - tolerated(1) benign(0) - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G missense_variant MODERATE AGAP6 ENSG00000204149 Transcript ENST00000374056.10 protein_coding 1/7 - - - 507 109 37 R/G Agg/Ggg rs75102885,COSV65017327 - 1 - HGNC HGNC:23466 - - 1 A2 - Ensembl - A A - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G missense_variant MODERATE AGAP6 ENSG00000204149 Transcript ENST00000412531.7 protein_coding 1/8 - - - 419 109 37 R/G Agg/Ggg rs75102885,COSV65017327 - 1 - HGNC HGNC:23466 NM_001077665.3 - 1 P2 - Ensembl - A A - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G non_coding_transcript_exon_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000618025.4 protein_coding_CDS_not_defined 4/10 - - - 462 - - - - rs75102885,COSV65017327 - 1 - HGNC HGNC:23466 - - 2 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G non_coding_transcript_exon_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000618171.5 retained_intron 1/7 - - - 221 - - - - rs75102885,COSV65017327 - 1 - HGNC HGNC:23466 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G non_coding_transcript_exon_variant MODIFIER - ENSG00000285803 Transcript ENST00000650407.1 lncRNA 1/4 - - - 76 - - - - rs75102885,COSV65017327 - -1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G upstream_gene_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000679578.1 retained_intron - - - - - - - - - rs75102885,COSV65017327 2553 1 - HGNC HGNC:23466 - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G missense_variant MODERATE AGAP6 ENSG00000204149 Transcript ENST00000679810.1 protein_coding 1/9 - - - 457 109 37 R/G Agg/Ggg rs75102885,COSV65017327 - 1 - HGNC HGNC:23466 - - - - - Ensembl - A A - tolerated(1) benign(0) - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G missense_variant,NMD_transcript_variant MODERATE AGAP6 ENSG00000204149 Transcript ENST00000680115.1 nonsense_mediated_decay 1/10 - - - 109 109 37 R/G Agg/Ggg rs75102885,COSV65017327 - 1 - HGNC HGNC:23466 - - - - - Ensembl - A A - tolerated(1) benign(0) - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G missense_variant MODERATE AGAP6 414189 Transcript NM_001077665.3 protein_coding 1/8 - - - 419 109 37 R/G Agg/Ggg rs75102885,COSV65017327 - 1 - EntrezGene HGNC:23466 ENST00000412531.7 - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158654.1 lncRNA - 6/12 - - - - - - - rs75102885,COSV65017327 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158656.1 lncRNA - 7/13 - - - - - - - rs75102885,COSV65017327 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158657.1 lncRNA - 8/14 - - - - - - - rs75102885,COSV65017327 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158658.1 lncRNA 8/15 - - - 872 - - - - rs75102885,COSV65017327 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158659.1 lncRNA - 8/14 - - - - - - - rs75102885,COSV65017327 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158660.1 lncRNA 10/17 - - - 1055 - - - - rs75102885,COSV65017327 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158661.1 lncRNA 10/17 - - - 1335 - - - - rs75102885,COSV65017327 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G non_coding_transcript_exon_variant MODIFIER AGAP6 414189 Transcript NR_171667.1 misc_RNA 1/9 - - - 457 - - - - rs75102885,COSV65017327 - 1 - EntrezGene HGNC:23466 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:49988824-49988824 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000403451 CTCF_binding_site - - - - - - - - - rs75102885,COSV65017327 - - - - - - - - - - - - - - - - - - - 0,1 0,1 - - - - - - . 10:49988924-49988924 A missense_variant MODERATE AGAP6 ENSG00000204149 Transcript ENST00000311652.11 protein_coding 1/8 - - - 209 209 70 R/Q cGg/cAg rs61848260,COSV65017276 - 1 - HGNC HGNC:23466 - - 1 - - Ensembl - G G - tolerated(0.11) benign(0.027) 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A missense_variant MODERATE AGAP6 ENSG00000204149 Transcript ENST00000374056.10 protein_coding 1/7 - - - 607 209 70 R/Q cGg/cAg rs61848260,COSV65017276 - 1 - HGNC HGNC:23466 - - 1 A2 - Ensembl - G G - tolerated_low_confidence(0.14) benign(0.006) 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A missense_variant MODERATE AGAP6 ENSG00000204149 Transcript ENST00000412531.7 protein_coding 1/8 - - - 519 209 70 R/Q cGg/cAg rs61848260,COSV65017276 - 1 - HGNC HGNC:23466 NM_001077665.3 - 1 P2 - Ensembl - G G - tolerated_low_confidence(0.19) benign(0) 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A non_coding_transcript_exon_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000618025.4 protein_coding_CDS_not_defined 4/10 - - - 562 - - - - rs61848260,COSV65017276 - 1 - HGNC HGNC:23466 - - 2 - - Ensembl - G G - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A non_coding_transcript_exon_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000618171.5 retained_intron 1/7 - - - 321 - - - - rs61848260,COSV65017276 - 1 - HGNC HGNC:23466 - - 5 - - Ensembl - G G - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A upstream_gene_variant MODIFIER - ENSG00000285803 Transcript ENST00000650407.1 lncRNA - - - - - - - - - rs61848260,COSV65017276 25 -1 - - - - - - - - Ensembl - G G - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A upstream_gene_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000679578.1 retained_intron - - - - - - - - - rs61848260,COSV65017276 2453 1 - HGNC HGNC:23466 - - - - - Ensembl - G G - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A missense_variant MODERATE AGAP6 ENSG00000204149 Transcript ENST00000679810.1 protein_coding 1/9 - - - 557 209 70 R/Q cGg/cAg rs61848260,COSV65017276 - 1 - HGNC HGNC:23466 - - - - - Ensembl - G G - tolerated(0.11) benign(0.027) 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A missense_variant,NMD_transcript_variant MODERATE AGAP6 ENSG00000204149 Transcript ENST00000680115.1 nonsense_mediated_decay 1/10 - - - 209 209 70 R/Q cGg/cAg rs61848260,COSV65017276 - 1 - HGNC HGNC:23466 - - - - - Ensembl - G G - tolerated(0.16) benign(0) 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A missense_variant MODERATE AGAP6 414189 Transcript NM_001077665.3 protein_coding 1/8 - - - 519 209 70 R/Q cGg/cAg rs61848260,COSV65017276 - 1 - EntrezGene HGNC:23466 ENST00000412531.7 - - - - RefSeq - G G - tolerated_low_confidence(0.19) benign(0) 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158654.1 lncRNA - 6/12 - - - - - - - rs61848260,COSV65017276 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158656.1 lncRNA - 7/13 - - - - - - - rs61848260,COSV65017276 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158657.1 lncRNA - 8/14 - - - - - - - rs61848260,COSV65017276 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158658.1 lncRNA 8/15 - - - 972 - - - - rs61848260,COSV65017276 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158659.1 lncRNA - 8/14 - - - - - - - rs61848260,COSV65017276 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158660.1 lncRNA 10/17 - - - 1155 - - - - rs61848260,COSV65017276 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158661.1 lncRNA 10/17 - - - 1435 - - - - rs61848260,COSV65017276 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - G G - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A non_coding_transcript_exon_variant MODIFIER AGAP6 414189 Transcript NR_171667.1 misc_RNA 1/9 - - - 557 - - - - rs61848260,COSV65017276 - 1 - EntrezGene HGNC:23466 - - - - - RefSeq - G G - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988924-49988924 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000403451 CTCF_binding_site - - - - - - - - - rs61848260,COSV65017276 - - - - - - - - - - - - - - - - - 0.5002 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000311652.11 protein_coding - 1/7 - - - - - - - rs61848261,COSV65017641 - 1 - HGNC HGNC:23466 - - 1 - - Ensembl - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000374056.10 protein_coding - 1/6 - - - - - - - rs61848261,COSV65017641 - 1 - HGNC HGNC:23466 - - 1 A2 - Ensembl - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000412531.7 protein_coding - 1/7 - - - - - - - rs61848261,COSV65017641 - 1 - HGNC HGNC:23466 NM_001077665.3 - 1 P2 - Ensembl - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant,non_coding_transcript_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000618025.4 protein_coding_CDS_not_defined - 4/9 - - - - - - - rs61848261,COSV65017641 - 1 - HGNC HGNC:23466 - - 2 - - Ensembl - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T non_coding_transcript_exon_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000618171.5 retained_intron 1/7 - - - 358 - - - - rs61848261,COSV65017641 - 1 - HGNC HGNC:23466 - - 5 - - Ensembl - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T upstream_gene_variant MODIFIER - ENSG00000285803 Transcript ENST00000650407.1 lncRNA - - - - - - - - - rs61848261,COSV65017641 62 -1 - - - - - - - - Ensembl - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T upstream_gene_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000679578.1 retained_intron - - - - - - - - - rs61848261,COSV65017641 2416 1 - HGNC HGNC:23466 - - - - - Ensembl - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000679810.1 protein_coding - 1/8 - - - - - - - rs61848261,COSV65017641 - 1 - HGNC HGNC:23466 - - - - - Ensembl - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant,NMD_transcript_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000680115.1 nonsense_mediated_decay - 1/9 - - - - - - - rs61848261,COSV65017641 - 1 - HGNC HGNC:23466 - - - - - Ensembl - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant MODIFIER AGAP6 414189 Transcript NM_001077665.3 protein_coding - 1/7 - - - - - - - rs61848261,COSV65017641 - 1 - EntrezGene HGNC:23466 ENST00000412531.7 - - - - RefSeq - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158654.1 lncRNA - 6/12 - - - - - - - rs61848261,COSV65017641 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158656.1 lncRNA - 7/13 - - - - - - - rs61848261,COSV65017641 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158657.1 lncRNA - 8/14 - - - - - - - rs61848261,COSV65017641 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158658.1 lncRNA - 8/14 - - - - - - - rs61848261,COSV65017641 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158659.1 lncRNA - 8/14 - - - - - - - rs61848261,COSV65017641 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158660.1 lncRNA - 10/16 - - - - - - - rs61848261,COSV65017641 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158661.1 lncRNA - 10/16 - - - - - - - rs61848261,COSV65017641 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T intron_variant,non_coding_transcript_variant MODIFIER AGAP6 414189 Transcript NR_171667.1 misc_RNA - 1/8 - - - - - - - rs61848261,COSV65017641 - 1 - EntrezGene HGNC:23466 - - - - - RefSeq - C C - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49988961-49988961 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000403451 CTCF_binding_site - - - - - - - - - rs61848261,COSV65017641 - - - - - - - - - - - - - - - - - 0.1204 - 0,1 0,1 - - - - - - . 10:49994508-49994508 C intron_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000311652.11 protein_coding - 4/7 - - - - - - - rs4043242 - 1 - HGNC HGNC:23466 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000374056.10 protein_coding - 3/6 - - - - - - - rs4043242 - 1 - HGNC HGNC:23466 - - 1 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000412531.7 protein_coding - 4/7 - - - - - - - rs4043242 - 1 - HGNC HGNC:23466 NM_001077665.3 - 1 P2 - Ensembl - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant,non_coding_transcript_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000618025.4 protein_coding_CDS_not_defined - 6/9 - - - - - - - rs4043242 - 1 - HGNC HGNC:23466 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant,non_coding_transcript_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000618171.5 retained_intron - 3/6 - - - - - - - rs4043242 - 1 - HGNC HGNC:23466 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant,non_coding_transcript_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000679578.1 retained_intron - 2/6 - - - - - - - rs4043242 - 1 - HGNC HGNC:23466 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000679810.1 protein_coding - 4/8 - - - - - - - rs4043242 - 1 - HGNC HGNC:23466 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant,NMD_transcript_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000680115.1 nonsense_mediated_decay - 4/9 - - - - - - - rs4043242 - 1 - HGNC HGNC:23466 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant MODIFIER AGAP6 414189 Transcript NM_001077665.3 protein_coding - 4/7 - - - - - - - rs4043242 - 1 - EntrezGene HGNC:23466 ENST00000412531.7 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158654.1 lncRNA - 9/12 - - - - - - - rs4043242 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158656.1 lncRNA - 10/13 - - - - - - - rs4043242 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158657.1 lncRNA - 11/14 - - - - - - - rs4043242 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158658.1 lncRNA - 11/14 - - - - - - - rs4043242 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158659.1 lncRNA - 11/14 - - - - - - - rs4043242 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158660.1 lncRNA - 13/16 - - - - - - - rs4043242 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant,non_coding_transcript_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158661.1 lncRNA - 13/16 - - - - - - - rs4043242 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:49994508-49994508 C intron_variant,non_coding_transcript_variant MODIFIER AGAP6 414189 Transcript NR_171667.1 misc_RNA - 4/8 - - - - - - - rs4043242 - 1 - EntrezGene HGNC:23466 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50008914-50008917 - 3_prime_UTR_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000311652.11 protein_coding 8/8 - - - 998-999 - - - - rs113234838,COSV65017251 - 1 - HGNC HGNC:23466 - - 1 - - Ensembl - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - frameshift_variant HIGH AGAP6 ENSG00000204149 Transcript ENST00000374056.10 protein_coding 7/7 - - - 1120-1121 722-723 241 K/X aAA/a rs113234838,COSV65017251 - 1 - HGNC HGNC:23466 - - 1 A2 - Ensembl - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - frameshift_variant HIGH AGAP6 ENSG00000204149 Transcript ENST00000412531.7 protein_coding 8/8 - - - 1101-1102 791-792 264 K/X aAA/a rs113234838,COSV65017251 - 1 - HGNC HGNC:23466 NM_001077665.3 - 1 P2 - Ensembl - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000618025.4 protein_coding_CDS_not_defined 10/10 - - - 1109-1110 - - - - rs113234838,COSV65017251 - 1 - HGNC HGNC:23466 - - 2 - - Ensembl - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000618171.5 retained_intron 7/7 - - - 1272-1273 - - - - rs113234838,COSV65017251 - 1 - HGNC HGNC:23466 - - 5 - - Ensembl - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000679578.1 retained_intron 6/7 - - - 798-799 - - - - rs113234838,COSV65017251 - 1 - HGNC HGNC:23466 - - - - - Ensembl - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000679610.1 retained_intron 2/2 - - - 1294-1295 - - - - rs113234838,COSV65017251 - 1 - HGNC HGNC:23466 - - - - - Ensembl - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - 3_prime_UTR_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000679810.1 protein_coding 9/9 - - - 1228-1229 - - - - rs113234838,COSV65017251 - 1 - HGNC HGNC:23466 - - - - - Ensembl - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - 3_prime_UTR_variant,NMD_transcript_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000680115.1 nonsense_mediated_decay 10/10 - - - 1024-1025 - - - - rs113234838,COSV65017251 - 1 - HGNC HGNC:23466 - - - - - Ensembl - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER AGAP6 ENSG00000204149 Transcript ENST00000681530.1 retained_intron 3/3 - - - 515-516 - - - - rs113234838,COSV65017251 - 1 - HGNC HGNC:23466 - - - - - Ensembl - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - frameshift_variant HIGH AGAP6 414189 Transcript NM_001077665.3 protein_coding 8/8 - - - 1101-1102 791-792 264 K/X aAA/a rs113234838,COSV65017251 - 1 - EntrezGene HGNC:23466 ENST00000412531.7 - - - - RefSeq - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158654.1 lncRNA 13/13 - - - 1296-1297 - - - - rs113234838,COSV65017251 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158656.1 lncRNA 14/14 - - - 1355-1356 - - - - rs113234838,COSV65017251 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158657.1 lncRNA 15/15 - - - 1479-1480 - - - - rs113234838,COSV65017251 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158658.1 lncRNA 15/15 - - - 1554-1555 - - - - rs113234838,COSV65017251 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158659.1 lncRNA 15/15 - - - 1705-1706 - - - - rs113234838,COSV65017251 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158660.1 lncRNA 17/17 - - - 1737-1738 - - - - rs113234838,COSV65017251 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER TIMM23B-AGAP6 113218477 Transcript NR_158661.1 lncRNA 17/17 - - - 2017-2018 - - - - rs113234838,COSV65017251 - 1 - EntrezGene HGNC:45009 - - - - - RefSeq - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50008914-50008917 - non_coding_transcript_exon_variant MODIFIER AGAP6 414189 Transcript NR_171667.1 misc_RNA 9/9 - - - 1473-1474 - - - - rs113234838,COSV65017251 - 1 - EntrezGene HGNC:23466 - - - - - RefSeq - AA AA - - - - benign 0,1 1,1 - - - - - - . 10:50060935-50060935 G intron_variant,non_coding_transcript_variant MODIFIER FAM21EP ENSG00000235618 Transcript ENST00000417804.2 transcribed_unprocessed_pseudogene - 5/10 - - - - - - - rs2805171 - -1 - HGNC HGNC:45010 - - - - - Ensembl - A A - - - 0.9056 - - - - - - - - - . 10:50060935-50060935 G intron_variant,non_coding_transcript_variant MODIFIER FAM21EP ENSG00000290956 Transcript ENST00000456967.5 lncRNA - 2/6 - - - - - - - rs2805171 - -1 - EntrezGene HGNC:45010 - - 2 - - Ensembl - A A - - - 0.9056 - - - - - - - - - . 10:50060935-50060935 G intron_variant,non_coding_transcript_variant MODIFIER FAM21EP ENSG00000290956 Transcript ENST00000649244.1 lncRNA - 2/8 - - - - - - - rs2805171 - -1 - EntrezGene HGNC:45010 - - - - - Ensembl - A A - - - 0.9056 - - - - - - - - - . 10:50060935-50060935 G intron_variant,non_coding_transcript_variant MODIFIER FAM21EP 100421577 Transcript NR_038275.2 transcribed_pseudogene - 2/6 - - - - - - - rs2805171 - -1 - EntrezGene HGNC:45010 - - - - - RefSeq - A A - - - 0.9056 - - - - - - - - - . 10:50060944-50060944 C splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW FAM21EP ENSG00000235618 Transcript ENST00000417804.2 transcribed_unprocessed_pseudogene - 5/10 - - - - - - - rs3964871 - -1 - HGNC HGNC:45010 - - - - - Ensembl - T T - - - 0.9056 - - - - - - - - - . 10:50060944-50060944 C intron_variant,non_coding_transcript_variant MODIFIER FAM21EP ENSG00000290956 Transcript ENST00000456967.5 lncRNA - 2/6 - - - - - - - rs3964871 - -1 - EntrezGene HGNC:45010 - - 2 - - Ensembl - T T - - - 0.9056 - - - - - - - - - . 10:50060944-50060944 C splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW FAM21EP ENSG00000290956 Transcript ENST00000649244.1 lncRNA - 2/8 - - - - - - - rs3964871 - -1 - EntrezGene HGNC:45010 - - - - - Ensembl - T T - - - 0.9056 - - - - - - - - - . 10:50060944-50060944 C intron_variant,non_coding_transcript_variant MODIFIER FAM21EP 100421577 Transcript NR_038275.2 transcribed_pseudogene - 2/6 - - - - - - - rs3964871 - -1 - EntrezGene HGNC:45010 - - - - - RefSeq - T T - - - 0.9056 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000282633.10 protein_coding - - - - - - - - - rs2805105 4005 1 - HGNC HGNC:23416 NM_001005751.3 - 1 P2 - Ensembl - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000314664.12 protein_coding - - - - - - - - - rs2805105 3974 1 - HGNC HGNC:23416 - - 1 - - Ensembl - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000351071.11 protein_coding - - - - - - - - - rs2805105 3958 1 - HGNC HGNC:23416 - - 1 - - Ensembl - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G splice_region_variant,non_coding_transcript_exon_variant LOW FAM21EP ENSG00000235618 Transcript ENST00000417804.2 transcribed_unprocessed_pseudogene 1/11 - - - 109 - - - - rs2805105 - -1 - HGNC HGNC:45010 - - - - - Ensembl - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000434114.6 nonsense_mediated_decay - - - - - - - - - rs2805105 3975 1 - HGNC HGNC:23416 - - 5 - - Ensembl - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G intron_variant,non_coding_transcript_variant MODIFIER FAM21EP ENSG00000290956 Transcript ENST00000456967.5 lncRNA - 1/6 - - - - - - - rs2805105 - -1 - EntrezGene HGNC:45010 - - 2 - - Ensembl - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000611324.4 protein_coding - - - - - - - - - rs2805105 3939 1 - HGNC HGNC:23416 - - 2 - - Ensembl - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER FAM21EP ENSG00000290956 Transcript ENST00000649244.1 lncRNA - - - - - - - - - rs2805105 2370 -1 - EntrezGene HGNC:45010 - - - - - Ensembl - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript NM_001005751.3 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 ENST00000282633.10 - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript NM_001291398.2 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript NM_001330102.2 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G intron_variant,non_coding_transcript_variant MODIFIER FAM21EP 100421577 Transcript NR_038275.2 transcribed_pseudogene - 1/6 - - - - - - - rs2805105 - -1 - EntrezGene HGNC:45010 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_005269806.4 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_005269807.4 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_006717831.4 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_006717832.4 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_011539786.3 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_017016227.2 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_017016228.2 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_017016229.2 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_017016231.2 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_017016232.2 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425206.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425207.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425208.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425209.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425210.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425211.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425212.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425213.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425214.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425215.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425216.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425217.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425219.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50063949-50063949 G upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_047425220.1 protein_coding - - - - - - - - - rs2805105 4005 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - 0.9365 - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000282633.10 protein_coding - 8/30 - - - - - - - rs2669712 - 1 - HGNC HGNC:23416 NM_001005751.3 - 1 P2 - Ensembl - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000314664.12 protein_coding - 8/28 - - - - - - - rs2669712 - 1 - HGNC HGNC:23416 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000351071.11 protein_coding - 8/29 - - - - - - - rs2669712 - 1 - HGNC HGNC:23416 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000399339.6 protein_coding - 6/28 - - - - - - - rs2669712 - 1 - HGNC HGNC:23416 - - 5 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant,NMD_transcript_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000434114.6 nonsense_mediated_decay - 6/27 - - - - - - - rs2669712 - 1 - HGNC HGNC:23416 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:50087429-50087429 A downstream_gene_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000476514.1 protein_coding_CDS_not_defined - - - - - - - - - rs2669712 1810 1 - HGNC HGNC:23416 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant,non_coding_transcript_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000492914.1 protein_coding_CDS_not_defined - 5/6 - - - - - - - rs2669712 - 1 - HGNC HGNC:23416 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000611324.4 protein_coding - 8/27 - - - - - - - rs2669712 - 1 - HGNC HGNC:23416 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript NM_001005751.3 protein_coding - 8/30 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 ENST00000282633.10 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript NM_001291398.2 protein_coding - 8/29 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript NM_001330102.2 protein_coding - 8/28 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_005269806.4 protein_coding - 8/29 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_005269807.4 protein_coding - 8/29 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_006717831.4 protein_coding - 8/29 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_006717832.4 protein_coding - 8/27 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_011539786.3 protein_coding - 8/27 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_017016227.2 protein_coding - 8/29 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_017016228.2 protein_coding - 8/28 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_017016229.2 protein_coding - 8/28 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_017016231.2 protein_coding - 8/28 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_017016232.2 protein_coding - 8/27 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_017016233.2 protein_coding - 4/26 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425206.1 protein_coding - 8/28 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425207.1 protein_coding - 8/28 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425208.1 protein_coding - 8/28 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425209.1 protein_coding - 8/28 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425210.1 protein_coding - 8/27 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425211.1 protein_coding - 8/27 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425212.1 protein_coding - 8/28 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425213.1 protein_coding - 8/27 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425214.1 protein_coding - 8/27 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425215.1 protein_coding - 8/26 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425216.1 protein_coding - 8/26 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425217.1 protein_coding - 8/26 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425218.1 protein_coding - 4/25 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425219.1 protein_coding - 8/21 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50087429-50087429 A intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425220.1 protein_coding - 8/19 - - - - - - - rs2669712 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000282633.10 protein_coding - 11/30 - - - - - - - rs201420666 - 1 - HGNC HGNC:23416 NM_001005751.3 - 1 P2 - Ensembl - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000314664.12 protein_coding - 11/28 - - - - - - - rs201420666 - 1 - HGNC HGNC:23416 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000351071.11 protein_coding - 11/29 - - - - - - - rs201420666 - 1 - HGNC HGNC:23416 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000399339.6 protein_coding - 9/28 - - - - - - - rs201420666 - 1 - HGNC HGNC:23416 - - 5 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant,NMD_transcript_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000434114.6 nonsense_mediated_decay - 9/27 - - - - - - - rs201420666 - 1 - HGNC HGNC:23416 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:50093222-50093222 C downstream_gene_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000492914.1 protein_coding_CDS_not_defined - - - - - - - - - rs201420666 1717 1 - HGNC HGNC:23416 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000611324.4 protein_coding - 10/27 - - - - - - - rs201420666 - 1 - HGNC HGNC:23416 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript NM_001005751.3 protein_coding - 11/30 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 ENST00000282633.10 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript NM_001291398.2 protein_coding - 11/29 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript NM_001330102.2 protein_coding - 11/28 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_005269806.4 protein_coding - 10/29 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_005269807.4 protein_coding - 11/29 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_006717831.4 protein_coding - 11/29 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_006717832.4 protein_coding - 10/27 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_011539786.3 protein_coding - 11/27 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_017016227.2 protein_coding - 11/29 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_017016228.2 protein_coding - 10/28 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_017016229.2 protein_coding - 11/28 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_017016231.2 protein_coding - 11/28 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_017016232.2 protein_coding - 10/27 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_017016233.2 protein_coding - 7/26 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_024447991.2 protein_coding - - - - - - - - - rs201420666 4492 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425206.1 protein_coding - 10/28 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425207.1 protein_coding - 11/28 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425208.1 protein_coding - 10/28 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425209.1 protein_coding - 11/28 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425210.1 protein_coding - 10/27 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425211.1 protein_coding - 11/27 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425212.1 protein_coding - 11/28 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425213.1 protein_coding - 11/27 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425214.1 protein_coding - 11/27 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425215.1 protein_coding - 10/26 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425216.1 protein_coding - 11/26 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425217.1 protein_coding - 11/26 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425218.1 protein_coding - 7/25 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425219.1 protein_coding - 11/21 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093222-50093222 C intron_variant MODIFIER WASHC2A 387680 Transcript XM_047425220.1 protein_coding - 11/19 - - - - - - - rs201420666 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A ENSG00000099290 Transcript ENST00000282633.10 protein_coding 13/31 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - HGNC HGNC:23416 NM_001005751.3 - 1 P2 - Ensembl - C C - tolerated_low_confidence(0.26) benign(0.012) - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A ENSG00000099290 Transcript ENST00000314664.12 protein_coding 13/29 - - - 1219 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - HGNC HGNC:23416 - - 1 - - Ensembl - C C - tolerated(0.28) benign(0.012) - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A ENSG00000099290 Transcript ENST00000351071.11 protein_coding 13/30 - - - 1235 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - HGNC HGNC:23416 - - 1 - - Ensembl - C C - tolerated_low_confidence(0.28) benign(0.012) - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A ENSG00000099290 Transcript ENST00000399339.6 protein_coding 11/29 - - - 872 872 291 T/M aCg/aTg rs199520696,COSV50953073 - 1 - HGNC HGNC:23416 - - 5 A2 - Ensembl - C C - tolerated_low_confidence(0.27) possibly_damaging(0.895) - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000434114.6 nonsense_mediated_decay 11/28 - - - 905 - - - - rs199520696,COSV50953073 - 1 - HGNC HGNC:23416 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T downstream_gene_variant MODIFIER WASHC2A ENSG00000099290 Transcript ENST00000492914.1 protein_coding_CDS_not_defined - - - - - - - - - rs199520696,COSV50953073 2368 1 - HGNC HGNC:23416 - - 4 - - Ensembl - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A ENSG00000099290 Transcript ENST00000611324.4 protein_coding 12/28 - - - 1182 1064 355 T/M aCg/aTg rs199520696,COSV50953073 - 1 - HGNC HGNC:23416 - - 2 - - Ensembl - C C - tolerated_low_confidence(0.27) benign(0.012) - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript NM_001005751.3 protein_coding 13/31 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 ENST00000282633.10 - - - - RefSeq - C C - tolerated_low_confidence(0.26) benign(0.012) - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript NM_001291398.2 protein_coding 13/30 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - tolerated_low_confidence(0.28) benign(0.012) - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript NM_001330102.2 protein_coding 13/29 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - tolerated(0.28) benign(0.012) - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_005269806.4 protein_coding 12/30 - - - 1116 1064 355 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_005269807.4 protein_coding 13/30 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_006717831.4 protein_coding 13/30 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_006717832.4 protein_coding 12/28 - - - 1116 1064 355 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - tolerated_low_confidence(0.27) benign(0.012) - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_011539786.3 protein_coding 13/28 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_017016227.2 protein_coding 13/30 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_017016228.2 protein_coding 12/29 - - - 1116 1064 355 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_017016229.2 protein_coding 13/29 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_017016231.2 protein_coding 13/29 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_017016232.2 protein_coding 12/28 - - - 1116 1064 355 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_017016233.2 protein_coding 9/27 - - - 632 557 186 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T upstream_gene_variant MODIFIER WASHC2A 387680 Transcript XM_024447991.2 protein_coding - - - - - - - - - rs199520696,COSV50953073 3841 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425206.1 protein_coding 12/29 - - - 1116 1064 355 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425207.1 protein_coding 13/29 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425208.1 protein_coding 12/29 - - - 1116 1064 355 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425209.1 protein_coding 13/29 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425210.1 protein_coding 12/28 - - - 1116 1064 355 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425211.1 protein_coding 13/28 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425212.1 protein_coding 13/29 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425213.1 protein_coding 13/28 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425214.1 protein_coding 13/28 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425215.1 protein_coding 12/27 - - - 1116 1064 355 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425216.1 protein_coding 13/27 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425217.1 protein_coding 13/27 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425218.1 protein_coding 9/26 - - - 640 557 186 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425219.1 protein_coding 13/22 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50093873-50093873 T missense_variant MODERATE WASHC2A 387680 Transcript XM_047425220.1 protein_coding 13/20 - - - 1188 1136 379 T/M aCg/aTg rs199520696,COSV50953073 - 1 - EntrezGene HGNC:23416 - - - - - RefSeq - C C - - - - - 0,1 0,1 33373444 - - - - - . 10:50189460-50189460 A intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000329428.10 protein_coding - 18/18 - - - - - - - rs1273378765 - -1 - HGNC HGNC:18860 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:50189460-50189460 A intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 21/21 - - - - - - - rs1273378765 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:50189460-50189460 A intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000443575.5 protein_coding - 17/17 - - - - - - - rs1273378765 - -1 - HGNC HGNC:18860 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:50189460-50189460 A intron_variant,NMD_transcript_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000474434.2 nonsense_mediated_decay - 5/5 - - - - - - - rs1273378765 - -1 cds_start_NF HGNC HGNC:18860 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:50189460-50189460 A intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000489640.5 protein_coding - 3/3 - - - - - - - rs1273378765 - -1 cds_start_NF HGNC HGNC:18860 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:50189460-50189460 A intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000682911.1 protein_coding - 20/20 - - - - - - - rs1273378765 - -1 - HGNC HGNC:18860 NM_019893.4 - - P1 - Ensembl - G G - - - - - - - - - - - - - . 10:50189460-50189460 A intron_variant MODIFIER ASAH2 56624 Transcript NM_001143974.3 protein_coding - 19/19 - - - - - - - rs1273378765 - -1 - EntrezGene HGNC:18860 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:50189460-50189460 A intron_variant MODIFIER ASAH2 56624 Transcript NM_019893.4 protein_coding - 20/20 - - - - - - - rs1273378765 - -1 - EntrezGene HGNC:18860 ENST00000682911.1 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:50189586-50189586 T missense_variant,splice_region_variant MODERATE ASAH2 ENSG00000188611 Transcript ENST00000329428.10 protein_coding 18/19 - - - 1904 1904 635 T/N aCc/aAc rs1279780267 - -1 - HGNC HGNC:18860 - - 1 - - Ensembl - G G - tolerated(0.06) possibly_damaging(0.69) - - - - - - - - - - . 10:50189586-50189586 T missense_variant,splice_region_variant MODERATE ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding 21/22 - - - 2357 2066 689 T/N aCc/aAc rs1279780267 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - G G - tolerated(0.11) possibly_damaging(0.794) - - - - - - - - - - . 10:50189586-50189586 T missense_variant,splice_region_variant MODERATE ASAH2 ENSG00000188611 Transcript ENST00000443575.5 protein_coding 17/18 - - - 1592 1592 531 T/N aCc/aAc rs1279780267 - -1 - HGNC HGNC:18860 - - 5 - - Ensembl - G G - tolerated(0.12) possibly_damaging(0.864) - - - - - - - - - - . 10:50189586-50189586 T splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant LOW ASAH2 ENSG00000188611 Transcript ENST00000474434.2 nonsense_mediated_decay 5/6 - - - 374 - - - - rs1279780267 - -1 cds_start_NF HGNC HGNC:18860 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:50189586-50189586 T missense_variant,splice_region_variant MODERATE ASAH2 ENSG00000188611 Transcript ENST00000489640.5 protein_coding 3/4 - - - 158 158 53 T/N aCc/aAc rs1279780267 - -1 cds_start_NF HGNC HGNC:18860 - - 3 - - Ensembl - G G - tolerated(0.15) possibly_damaging(0.829) - - - - - - - - - - . 10:50189586-50189586 T missense_variant,splice_region_variant MODERATE ASAH2 ENSG00000188611 Transcript ENST00000682911.1 protein_coding 20/21 - - - 2224 2066 689 T/N aCc/aAc rs1279780267 - -1 - HGNC HGNC:18860 NM_019893.4 - - P1 - Ensembl - G G - tolerated(0.11) possibly_damaging(0.794) - - - - - - - - - - . 10:50189586-50189586 T missense_variant,splice_region_variant MODERATE ASAH2 56624 Transcript NM_001143974.3 protein_coding 19/20 - - - 2119 1961 654 T/N aCc/aAc rs1279780267 - -1 - EntrezGene HGNC:18860 - - - - - RefSeq - G G - tolerated(0.09) possibly_damaging(0.69) - - - - - - - - - - . 10:50189586-50189586 T missense_variant,splice_region_variant MODERATE ASAH2 56624 Transcript NM_019893.4 protein_coding 20/21 - - - 2224 2066 689 T/N aCc/aAc rs1279780267 - -1 - EntrezGene HGNC:18860 ENST00000682911.1 - - - - RefSeq - G G - tolerated(0.11) possibly_damaging(0.794) - - - - - - - - - - . 10:50197051-50197051 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000329428.10 protein_coding - 15/18 - - - - - - - rs1345076481 - -1 - HGNC HGNC:18860 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:50197051-50197051 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 18/21 - - - - - - - rs1345076481 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:50197051-50197051 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000443575.5 protein_coding - 14/17 - - - - - - - rs1345076481 - -1 - HGNC HGNC:18860 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:50197051-50197051 C intron_variant,NMD_transcript_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000474434.2 nonsense_mediated_decay - 2/5 - - - - - - - rs1345076481 - -1 cds_start_NF HGNC HGNC:18860 - - 4 - - Ensembl - A A - - - - - - - - - - - - - . 10:50197051-50197051 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000489640.5 protein_coding - 1/3 - - - - - - - rs1345076481 - -1 cds_start_NF HGNC HGNC:18860 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:50197051-50197051 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000682911.1 protein_coding - 17/20 - - - - - - - rs1345076481 - -1 - HGNC HGNC:18860 NM_019893.4 - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:50197051-50197051 C intron_variant MODIFIER ASAH2 56624 Transcript NM_001143974.3 protein_coding - 16/19 - - - - - - - rs1345076481 - -1 - EntrezGene HGNC:18860 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50197051-50197051 C intron_variant MODIFIER ASAH2 56624 Transcript NM_019893.4 protein_coding - 17/20 - - - - - - - rs1345076481 - -1 - EntrezGene HGNC:18860 ENST00000682911.1 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50210866-50210866 C synonymous_variant LOW ASAH2 ENSG00000188611 Transcript ENST00000329428.10 protein_coding 10/19 - - - 1209 1209 403 A gcA/gcG rs992270 - -1 - HGNC HGNC:18860 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:50210866-50210866 C synonymous_variant LOW ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding 13/22 - - - 1662 1371 457 A gcA/gcG rs992270 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:50210866-50210866 C synonymous_variant LOW ASAH2 ENSG00000188611 Transcript ENST00000443575.5 protein_coding 9/18 - - - 897 897 299 A gcA/gcG rs992270 - -1 - HGNC HGNC:18860 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:50210866-50210866 C synonymous_variant LOW ASAH2 ENSG00000188611 Transcript ENST00000682911.1 protein_coding 12/21 - - - 1529 1371 457 A gcA/gcG rs992270 - -1 - HGNC HGNC:18860 NM_019893.4 - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:50210866-50210866 C synonymous_variant LOW ASAH2 56624 Transcript NM_001143974.3 protein_coding 11/20 - - - 1424 1266 422 A gcA/gcG rs992270 - -1 - EntrezGene HGNC:18860 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50210866-50210866 C synonymous_variant LOW ASAH2 56624 Transcript NM_019893.4 protein_coding 12/21 - - - 1529 1371 457 A gcA/gcG rs992270 - -1 - EntrezGene HGNC:18860 ENST00000682911.1 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50211182-50211182 G intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000329428.10 protein_coding - 9/18 - - - - - - - rs56209738 - -1 - HGNC HGNC:18860 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:50211182-50211182 G intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 11/21 - - - - - - - rs56209738 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:50211182-50211182 G intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000443575.5 protein_coding - 7/17 - - - - - - - rs56209738 - -1 - HGNC HGNC:18860 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:50211182-50211182 G intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000682911.1 protein_coding - 10/20 - - - - - - - rs56209738 - -1 - HGNC HGNC:18860 NM_019893.4 - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:50211182-50211182 G intron_variant MODIFIER ASAH2 56624 Transcript NM_001143974.3 protein_coding - 10/19 - - - - - - - rs56209738 - -1 - EntrezGene HGNC:18860 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50211182-50211182 G intron_variant MODIFIER ASAH2 56624 Transcript NM_019893.4 protein_coding - 10/20 - - - - - - - rs56209738 - -1 - EntrezGene HGNC:18860 ENST00000682911.1 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:50211182-50211182 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001178699 enhancer - - - - - - - - - rs56209738 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:50211183-50211183 T intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000329428.10 protein_coding - 9/18 - - - - - - - rs879956664 - -1 - HGNC HGNC:18860 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:50211183-50211183 T intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 11/21 - - - - - - - rs879956664 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:50211183-50211183 T intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000443575.5 protein_coding - 7/17 - - - - - - - rs879956664 - -1 - HGNC HGNC:18860 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:50211183-50211183 T intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000682911.1 protein_coding - 10/20 - - - - - - - rs879956664 - -1 - HGNC HGNC:18860 NM_019893.4 - - P1 - Ensembl - C C - - - - - - - - - - - - - . 10:50211183-50211183 T intron_variant MODIFIER ASAH2 56624 Transcript NM_001143974.3 protein_coding - 10/19 - - - - - - - rs879956664 - -1 - EntrezGene HGNC:18860 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:50211183-50211183 T intron_variant MODIFIER ASAH2 56624 Transcript NM_019893.4 protein_coding - 10/20 - - - - - - - rs879956664 - -1 - EntrezGene HGNC:18860 ENST00000682911.1 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:50211183-50211183 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001178699 enhancer - - - - - - - - - rs879956664 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:50214729-50214729 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000329428.10 protein_coding - 8/18 - - - - - - - rs569779735,COSV61484172 - -1 - HGNC HGNC:18860 - - 1 - - Ensembl - T T - - - 0.0493 - 0,1 0,1 - - - - - - . 10:50214729-50214729 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 10/21 - - - - - - - rs569779735,COSV61484172 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - T T - - - 0.0493 - 0,1 0,1 - - - - - - . 10:50214729-50214729 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000443575.5 protein_coding - 6/17 - - - - - - - rs569779735,COSV61484172 - -1 - HGNC HGNC:18860 - - 5 - - Ensembl - T T - - - 0.0493 - 0,1 0,1 - - - - - - . 10:50214729-50214729 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000682911.1 protein_coding - 9/20 - - - - - - - rs569779735,COSV61484172 - -1 - HGNC HGNC:18860 NM_019893.4 - - P1 - Ensembl - T T - - - 0.0493 - 0,1 0,1 - - - - - - . 10:50214729-50214729 C intron_variant MODIFIER ASAH2 56624 Transcript NM_001143974.3 protein_coding - 9/19 - - - - - - - rs569779735,COSV61484172 - -1 - EntrezGene HGNC:18860 - - - - - RefSeq - T T - - - 0.0493 - 0,1 0,1 - - - - - - . 10:50214729-50214729 C intron_variant MODIFIER ASAH2 56624 Transcript NM_019893.4 protein_coding - 9/20 - - - - - - - rs569779735,COSV61484172 - -1 - EntrezGene HGNC:18860 ENST00000682911.1 - - - - RefSeq - T T - - - 0.0493 - 0,1 0,1 - - - - - - . 10:50214925-50214925 T intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000329428.10 protein_coding - 7/18 - - - - - - - rs35600969,COSV61484256 - -1 - HGNC HGNC:18860 - - 1 - - Ensembl - C C - - - 0.2949 - 0,1 0,1 - - - - - - . 10:50214925-50214925 T intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 9/21 - - - - - - - rs35600969,COSV61484256 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - C C - - - 0.2949 - 0,1 0,1 - - - - - - . 10:50214925-50214925 T intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000443575.5 protein_coding - 5/17 - - - - - - - rs35600969,COSV61484256 - -1 - HGNC HGNC:18860 - - 5 - - Ensembl - C C - - - 0.2949 - 0,1 0,1 - - - - - - . 10:50214925-50214925 T intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000682911.1 protein_coding - 8/20 - - - - - - - rs35600969,COSV61484256 - -1 - HGNC HGNC:18860 NM_019893.4 - - P1 - Ensembl - C C - - - 0.2949 - 0,1 0,1 - - - - - - . 10:50214925-50214925 T intron_variant MODIFIER ASAH2 56624 Transcript NM_001143974.3 protein_coding - 8/19 - - - - - - - rs35600969,COSV61484256 - -1 - EntrezGene HGNC:18860 - - - - - RefSeq - C C - - - 0.2949 - 0,1 0,1 - - - - - - . 10:50214925-50214925 T intron_variant MODIFIER ASAH2 56624 Transcript NM_019893.4 protein_coding - 8/20 - - - - - - - rs35600969,COSV61484256 - -1 - EntrezGene HGNC:18860 ENST00000682911.1 - - - - RefSeq - C C - - - 0.2949 - 0,1 0,1 - - - - - - . 10:50218644-50218644 G splice_polypyrimidine_tract_variant,intron_variant LOW ASAH2 ENSG00000188611 Transcript ENST00000329428.10 protein_coding - 6/18 - - - - - - - rs752856040 - -1 - HGNC HGNC:18860 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:50218644-50218644 G splice_polypyrimidine_tract_variant,intron_variant LOW ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 8/21 - - - - - - - rs752856040 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:50218644-50218644 G splice_polypyrimidine_tract_variant,intron_variant LOW ASAH2 ENSG00000188611 Transcript ENST00000443575.5 protein_coding - 4/17 - - - - - - - rs752856040 - -1 - HGNC HGNC:18860 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:50218644-50218644 G splice_polypyrimidine_tract_variant,intron_variant LOW ASAH2 ENSG00000188611 Transcript ENST00000682911.1 protein_coding - 7/20 - - - - - - - rs752856040 - -1 - HGNC HGNC:18860 NM_019893.4 - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:50218644-50218644 G splice_polypyrimidine_tract_variant,intron_variant LOW ASAH2 56624 Transcript NM_001143974.3 protein_coding - 7/19 - - - - - - - rs752856040 - -1 - EntrezGene HGNC:18860 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50218644-50218644 G splice_polypyrimidine_tract_variant,intron_variant LOW ASAH2 56624 Transcript NM_019893.4 protein_coding - 7/20 - - - - - - - rs752856040 - -1 - EntrezGene HGNC:18860 ENST00000682911.1 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50218670-50218670 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000329428.10 protein_coding - 6/18 - - - - - - - rs56083155 - -1 - HGNC HGNC:18860 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:50218670-50218670 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 8/21 - - - - - - - rs56083155 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:50218670-50218670 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000443575.5 protein_coding - 4/17 - - - - - - - rs56083155 - -1 - HGNC HGNC:18860 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:50218670-50218670 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000682911.1 protein_coding - 7/20 - - - - - - - rs56083155 - -1 - HGNC HGNC:18860 NM_019893.4 - - P1 - Ensembl - G G - - - - - - - - - - - - - . 10:50218670-50218670 C intron_variant MODIFIER ASAH2 56624 Transcript NM_001143974.3 protein_coding - 7/19 - - - - - - - rs56083155 - -1 - EntrezGene HGNC:18860 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:50218670-50218670 C intron_variant MODIFIER ASAH2 56624 Transcript NM_019893.4 protein_coding - 7/20 - - - - - - - rs56083155 - -1 - EntrezGene HGNC:18860 ENST00000682911.1 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:50234688-50234688 A intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000329428.10 protein_coding - 4/18 - - - - - - - rs919763309 - -1 - HGNC HGNC:18860 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:50234688-50234688 A intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 6/21 - - - - - - - rs919763309 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:50234688-50234688 A intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000443575.5 protein_coding - 2/17 - - - - - - - rs919763309 - -1 - HGNC HGNC:18860 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:50234688-50234688 A intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000682911.1 protein_coding - 5/20 - - - - - - - rs919763309 - -1 - HGNC HGNC:18860 NM_019893.4 - - P1 - Ensembl - G G - - - - - - - - - - - - - . 10:50234688-50234688 A intron_variant MODIFIER ASAH2 56624 Transcript NM_001143974.3 protein_coding - 5/19 - - - - - - - rs919763309 - -1 - EntrezGene HGNC:18860 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:50234688-50234688 A intron_variant MODIFIER ASAH2 56624 Transcript NM_019893.4 protein_coding - 5/20 - - - - - - - rs919763309 - -1 - EntrezGene HGNC:18860 ENST00000682911.1 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:50234688-50234688 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000944594 TF_binding_site - - - - - - - - - rs919763309 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:50234688-50234688 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00144868114 - - - - - - - - - - rs919763309 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0497 12 N 0.011 SOX6::TBX21 . 10:50265407-50265407 G intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 1/21 - - - - - - - rs2574943 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - A A - - - 0.7766 - - - - - - - - - . 10:50265407-50265407 G non_coding_transcript_exon_variant MODIFIER DYNC1I2P1 ENSG00000225137 Transcript ENST00000435916.1 processed_pseudogene 1/1 - - - 430 - - - - rs2574943 - 1 - HGNC HGNC:45012 - - - - - Ensembl - A A - - - 0.7766 - - - - - - - - - . 10:50265722-50265722 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 1/21 - - - - - - - rs2813295 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - G G - - - 0.5172 - - - - - - - - - . 10:50265722-50265722 C non_coding_transcript_exon_variant MODIFIER DYNC1I2P1 ENSG00000225137 Transcript ENST00000435916.1 processed_pseudogene 1/1 - - - 745 - - - - rs2813295 - 1 - HGNC HGNC:45012 - - - - - Ensembl - G G - - - 0.5172 - - - - - - - - - . 10:50266227-50266227 C intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 1/21 - - - - - - - rs2813294 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - T T - - - 0.5210 - - - - - - - - - . 10:50266227-50266227 C non_coding_transcript_exon_variant MODIFIER DYNC1I2P1 ENSG00000225137 Transcript ENST00000435916.1 processed_pseudogene 1/1 - - - 1250 - - - - rs2813294 - 1 - HGNC HGNC:45012 - - - - - Ensembl - T T - - - 0.5210 - - - - - - - - - . 10:50266280-50266280 G intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 1/21 - - - - - - - rs2574944 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - A A - - - 0.7766 - - - - - - - - - . 10:50266280-50266280 G non_coding_transcript_exon_variant MODIFIER DYNC1I2P1 ENSG00000225137 Transcript ENST00000435916.1 processed_pseudogene 1/1 - - - 1303 - - - - rs2574944 - 1 - HGNC HGNC:45012 - - - - - Ensembl - A A - - - 0.7766 - - - - - - - - - . 10:50266401-50266401 G intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 1/21 - - - - - - - rs2574946 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - A A - - - 0.7700 - - - - - - - - - . 10:50266401-50266401 G non_coding_transcript_exon_variant MODIFIER DYNC1I2P1 ENSG00000225137 Transcript ENST00000435916.1 processed_pseudogene 1/1 - - - 1424 - - - - rs2574946 - 1 - HGNC HGNC:45012 - - - - - Ensembl - A A - - - 0.7700 - - - - - - - - - . 10:50266682-50266682 T intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 1/21 - - - - - - - rs2842129 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - C C - - - 0.6098 - - - - - - - - - . 10:50266682-50266682 T non_coding_transcript_exon_variant MODIFIER DYNC1I2P1 ENSG00000225137 Transcript ENST00000435916.1 processed_pseudogene 1/1 - - - 1705 - - - - rs2842129 - 1 - HGNC HGNC:45012 - - - - - Ensembl - C C - - - 0.6098 - - - - - - - - - . 10:50266892-50266892 G intron_variant MODIFIER ASAH2 ENSG00000188611 Transcript ENST00000395526.9 protein_coding - 1/21 - - - - - - - rs2574947 - -1 - HGNC HGNC:18860 - - 1 P1 - Ensembl - A A - - - 0.5210 - - - - - - - - - . 10:50266892-50266892 G downstream_gene_variant MODIFIER DYNC1I2P1 ENSG00000225137 Transcript ENST00000435916.1 processed_pseudogene - - - - - - - - - rs2574947 77 1 - HGNC HGNC:45012 - - - - - Ensembl - A A - - - 0.5210 - - - - - - - - - . 10:50681838-50681838 T non_coding_transcript_exon_variant MODIFIER NUTM2HP ENSG00000232706 Transcript ENST00000442076.2 unprocessed_pseudogene 3/8 - - - 1092 - - - - rs12241969 - 1 - HGNC HGNC:45017 - - - - - Ensembl - C C - - - 0.2021 - - - - - - - - - . 10:50684882-50684882 A non_coding_transcript_exon_variant MODIFIER NUTM2HP ENSG00000232706 Transcript ENST00000442076.2 unprocessed_pseudogene 7/8 - - - 1931 - - - - rs7894307 - 1 - HGNC HGNC:45017 - - - - - Ensembl - C C - - - 0.6484 - - - - - - - - - . 10:50727032-50727032 A non_coding_transcript_exon_variant MODIFIER PGGT1BP1 ENSG00000213667 Transcript ENST00000455321.1 processed_pseudogene 1/1 - - - 938 - - - - rs10994179 - -1 - HGNC HGNC:45024 - - - - - Ensembl - G G - - - 0.3662 - - - - - - - - - . 10:50749317-50749317 G intron_variant MODIFIER ASAH2B ENSG00000204147 Transcript ENST00000374006.1 protein_coding - 3/5 - - - - - - - rs1246667931 - 1 - HGNC HGNC:23456 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:50749317-50749317 G intron_variant MODIFIER ASAH2B ENSG00000204147 Transcript ENST00000374007.5 protein_coding - 3/5 - - - - - - - rs1246667931 - 1 - HGNC HGNC:23456 - - 3 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:50749317-50749317 G intron_variant,non_coding_transcript_variant MODIFIER ASAH2B ENSG00000204147 Transcript ENST00000483649.1 protein_coding_CDS_not_defined - 2/6 - - - - - - - rs1246667931 - 1 - HGNC HGNC:23456 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:50749317-50749317 G intron_variant,NMD_transcript_variant MODIFIER ASAH2B ENSG00000204147 Transcript ENST00000643505.1 nonsense_mediated_decay - 4/6 - - - - - - - rs1246667931 - 1 - HGNC HGNC:23456 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:50749317-50749317 G intron_variant MODIFIER ASAH2B ENSG00000204147 Transcript ENST00000643851.1 protein_coding - 3/5 - - - - - - - rs1246667931 - 1 - HGNC HGNC:23456 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:50749317-50749317 G intron_variant,NMD_transcript_variant MODIFIER ASAH2B ENSG00000204147 Transcript ENST00000645350.1 nonsense_mediated_decay - 4/6 - - - - - - - rs1246667931 - 1 - HGNC HGNC:23456 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:50749317-50749317 G intron_variant MODIFIER ASAH2B ENSG00000204147 Transcript ENST00000647317.2 protein_coding - 3/5 - - - - - - - rs1246667931 - 1 - HGNC HGNC:23456 NM_001321958.2 - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:50749317-50749317 G intron_variant MODIFIER ASAH2B 653308 Transcript NM_001079516.4 protein_coding - 3/5 - - - - - - - rs1246667931 - 1 - EntrezGene HGNC:23456 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50749317-50749317 G intron_variant MODIFIER ASAH2B 653308 Transcript NM_001321957.2 protein_coding - 3/5 - - - - - - - rs1246667931 - 1 - EntrezGene HGNC:23456 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50749317-50749317 G intron_variant MODIFIER ASAH2B 653308 Transcript NM_001321958.2 protein_coding - 3/5 - - - - - - - rs1246667931 - 1 - EntrezGene HGNC:23456 ENST00000647317.2 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50749317-50749317 G intron_variant MODIFIER ASAH2B 653308 Transcript NM_001321959.2 protein_coding - 3/5 - - - - - - - rs1246667931 - 1 - EntrezGene HGNC:23456 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50749317-50749317 G intron_variant MODIFIER ASAH2B 653308 Transcript NM_001321960.2 protein_coding - 4/6 - - - - - - - rs1246667931 - 1 - EntrezGene HGNC:23456 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50749317-50749317 G intron_variant,non_coding_transcript_variant MODIFIER ASAH2B 653308 Transcript NR_135904.2 misc_RNA - 2/4 - - - - - - - rs1246667931 - 1 - EntrezGene HGNC:23456 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:50752469-50752469 A missense_variant,splice_region_variant MODERATE ASAH2B ENSG00000204147 Transcript ENST00000374006.1 protein_coding 5/6 - - - 286 221 74 T/N aCc/aAc rs1412094935,COSV51768638 - 1 - HGNC HGNC:23456 - - 3 - - Ensembl - C C - deleterious(0.04) probably_damaging(0.961) - - 0,1 0,1 - - - - - - . 10:50752469-50752469 A missense_variant,splice_region_variant MODERATE ASAH2B ENSG00000204147 Transcript ENST00000374007.5 protein_coding 5/6 - - - 990 206 69 T/N aCc/aAc rs1412094935,COSV51768638 - 1 - HGNC HGNC:23456 - - 3 P1 - Ensembl - C C - tolerated(0.05) probably_damaging(0.972) - - 0,1 0,1 - - - - - - . 10:50752469-50752469 A splice_region_variant,non_coding_transcript_exon_variant LOW ASAH2B ENSG00000204147 Transcript ENST00000483649.1 protein_coding_CDS_not_defined 4/7 - - - 190 - - - - rs1412094935,COSV51768638 - 1 - HGNC HGNC:23456 - - 3 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:50752469-50752469 A splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant LOW ASAH2B ENSG00000204147 Transcript ENST00000643505.1 nonsense_mediated_decay 6/7 - - - 422 - - - - rs1412094935,COSV51768638 - 1 - HGNC HGNC:23456 - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:50752469-50752469 A missense_variant,splice_region_variant MODERATE ASAH2B ENSG00000204147 Transcript ENST00000643851.1 protein_coding 5/6 - - - 279 221 74 T/N aCc/aAc rs1412094935,COSV51768638 - 1 - HGNC HGNC:23456 - - - - - Ensembl - C C - deleterious(0.04) probably_damaging(0.961) - - 0,1 0,1 - - - - - - . 10:50752469-50752469 A splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant LOW ASAH2B ENSG00000204147 Transcript ENST00000645350.1 nonsense_mediated_decay 6/7 - - - 403 - - - - rs1412094935,COSV51768638 - 1 - HGNC HGNC:23456 - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:50752469-50752469 A missense_variant,splice_region_variant MODERATE ASAH2B ENSG00000204147 Transcript ENST00000647317.2 protein_coding 5/6 - - - 353 206 69 T/N aCc/aAc rs1412094935,COSV51768638 - 1 - HGNC HGNC:23456 NM_001321958.2 - - P1 - Ensembl - C C - tolerated(0.05) probably_damaging(0.972) - - 0,1 0,1 - - - - - - . 10:50752469-50752469 A missense_variant,splice_region_variant MODERATE ASAH2B 653308 Transcript NM_001079516.4 protein_coding 5/6 - - - 298 221 74 T/N aCc/aAc rs1412094935,COSV51768638 - 1 - EntrezGene HGNC:23456 - - - - - RefSeq - C C - deleterious(0.04) probably_damaging(0.961) - - 0,1 0,1 - - - - - - . 10:50752469-50752469 A missense_variant,splice_region_variant MODERATE ASAH2B 653308 Transcript NM_001321957.2 protein_coding 5/6 - - - 279 221 74 T/N aCc/aAc rs1412094935,COSV51768638 - 1 - EntrezGene HGNC:23456 - - - - - RefSeq - C C - deleterious(0.04) probably_damaging(0.961) - - 0,1 0,1 - - - - - - . 10:50752469-50752469 A missense_variant,splice_region_variant MODERATE ASAH2B 653308 Transcript NM_001321958.2 protein_coding 5/6 - - - 353 206 69 T/N aCc/aAc rs1412094935,COSV51768638 - 1 - EntrezGene HGNC:23456 ENST00000647317.2 - - - - RefSeq - C C - tolerated(0.05) probably_damaging(0.972) - - 0,1 0,1 - - - - - - . 10:50752469-50752469 A missense_variant,splice_region_variant MODERATE ASAH2B 653308 Transcript NM_001321959.2 protein_coding 5/6 - - - 372 206 69 T/N aCc/aAc rs1412094935,COSV51768638 - 1 - EntrezGene HGNC:23456 - - - - - RefSeq - C C - tolerated(0.05) probably_damaging(0.972) - - 0,1 0,1 - - - - - - . 10:50752469-50752469 A missense_variant,splice_region_variant MODERATE ASAH2B 653308 Transcript NM_001321960.2 protein_coding 6/7 - - - 441 206 69 T/N aCc/aAc rs1412094935,COSV51768638 - 1 - EntrezGene HGNC:23456 - - - - - RefSeq - C C - tolerated(0.05) probably_damaging(0.972) - - 0,1 0,1 - - - - - - . 10:50752469-50752469 A splice_region_variant,non_coding_transcript_exon_variant LOW ASAH2B 653308 Transcript NR_135904.2 misc_RNA 4/5 - - - 206 - - - - rs1412094935,COSV51768638 - 1 - EntrezGene HGNC:23456 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:51698287-51698287 G synonymous_variant LOW CSTF2T ENSG00000177613 Transcript ENST00000331173.6 protein_coding 1/1 - - - 1309 1263 421 R cgT/cgC rs3740228,COSV58656076 - -1 - HGNC HGNC:17086 NM_015235.3 - - P1 - Ensembl - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000373976.9 protein_coding - 3/6 - - - - - - - rs3740228,COSV58656076 - 1 - HGNC HGNC:9414 - - 3 - - Ensembl - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000373980.11 protein_coding - 3/17 - - - - - - - rs3740228,COSV58656076 - 1 - HGNC HGNC:9414 NM_006258.4 - 1 - - Ensembl - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000401604.8 protein_coding - 3/17 - - - - - - - rs3740228,COSV58656076 - 1 - HGNC HGNC:9414 - - 5 P1 - Ensembl - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000643582.1 protein_coding - 3/4 - - - - - - - rs3740228,COSV58656076 - 1 - HGNC HGNC:9414 - - - - - Ensembl - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000643704.1 protein_coding - 3/5 - - - - - - - rs3740228,COSV58656076 - 1 - HGNC HGNC:9414 - - - - - Ensembl - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000645324.1 protein_coding - 3/7 - - - - - - - rs3740228,COSV58656076 - 1 - HGNC HGNC:9414 - - - - - Ensembl - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G intron_variant MODIFIER PRKG1 5592 Transcript NM_001098512.3 protein_coding - 3/17 - - - - - - - rs3740228,COSV58656076 - 1 - EntrezGene HGNC:9414 - - - - - RefSeq - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G intron_variant MODIFIER PRKG1 5592 Transcript NM_001374782.1 protein_coding - 3/6 - - - - - - - rs3740228,COSV58656076 - 1 - EntrezGene HGNC:9414 - - - - - RefSeq - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G intron_variant MODIFIER PRKG1 5592 Transcript NM_006258.4 protein_coding - 3/17 - - - - - - - rs3740228,COSV58656076 - 1 - EntrezGene HGNC:9414 ENST00000373980.11 - - - - RefSeq - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G synonymous_variant LOW CSTF2T 23283 Transcript NM_015235.3 protein_coding 1/1 - - - 1309 1263 421 R cgT/cgC rs3740228,COSV58656076 - -1 - EntrezGene HGNC:17086 ENST00000331173.6 - - - - RefSeq - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G intron_variant MODIFIER PRKG1 5592 Transcript XM_011539952.3 protein_coding - 3/9 - - - - - - - rs3740228,COSV58656076 - 1 - EntrezGene HGNC:9414 - - - - - RefSeq - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G intron_variant MODIFIER PRKG1 5592 Transcript XM_017016413.2 protein_coding - 3/17 - - - - - - - rs3740228,COSV58656076 - 1 - EntrezGene HGNC:9414 - - - - - RefSeq - A A - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51698287-51698287 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000028112 promoter - - - - - - - - - rs3740228,COSV58656076 - - - - - - - - - - - - - - - - - 0.2498 - 0,1 0,1 - - - - - - . 10:51699238-51699238 G synonymous_variant LOW CSTF2T ENSG00000177613 Transcript ENST00000331173.6 protein_coding 1/1 - - - 358 312 104 L ctT/ctC rs2292828,COSV58656080,COSV58657242 - -1 - HGNC HGNC:17086 NM_015235.3 - - P1 - Ensembl - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000373976.9 protein_coding - 3/6 - - - - - - - rs2292828,COSV58656080,COSV58657242 - 1 - HGNC HGNC:9414 - - 3 - - Ensembl - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000373980.11 protein_coding - 3/17 - - - - - - - rs2292828,COSV58656080,COSV58657242 - 1 - HGNC HGNC:9414 NM_006258.4 - 1 - - Ensembl - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000401604.8 protein_coding - 3/17 - - - - - - - rs2292828,COSV58656080,COSV58657242 - 1 - HGNC HGNC:9414 - - 5 P1 - Ensembl - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000643582.1 protein_coding - 3/4 - - - - - - - rs2292828,COSV58656080,COSV58657242 - 1 - HGNC HGNC:9414 - - - - - Ensembl - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000643704.1 protein_coding - 3/5 - - - - - - - rs2292828,COSV58656080,COSV58657242 - 1 - HGNC HGNC:9414 - - - - - Ensembl - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000645324.1 protein_coding - 3/7 - - - - - - - rs2292828,COSV58656080,COSV58657242 - 1 - HGNC HGNC:9414 - - - - - Ensembl - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G intron_variant MODIFIER PRKG1 5592 Transcript NM_001098512.3 protein_coding - 3/17 - - - - - - - rs2292828,COSV58656080,COSV58657242 - 1 - EntrezGene HGNC:9414 - - - - - RefSeq - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G intron_variant MODIFIER PRKG1 5592 Transcript NM_001374782.1 protein_coding - 3/6 - - - - - - - rs2292828,COSV58656080,COSV58657242 - 1 - EntrezGene HGNC:9414 - - - - - RefSeq - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G intron_variant MODIFIER PRKG1 5592 Transcript NM_006258.4 protein_coding - 3/17 - - - - - - - rs2292828,COSV58656080,COSV58657242 - 1 - EntrezGene HGNC:9414 ENST00000373980.11 - - - - RefSeq - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G synonymous_variant LOW CSTF2T 23283 Transcript NM_015235.3 protein_coding 1/1 - - - 358 312 104 L ctT/ctC rs2292828,COSV58656080,COSV58657242 - -1 - EntrezGene HGNC:17086 ENST00000331173.6 - - - - RefSeq - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G intron_variant MODIFIER PRKG1 5592 Transcript XM_011539952.3 protein_coding - 3/9 - - - - - - - rs2292828,COSV58656080,COSV58657242 - 1 - EntrezGene HGNC:9414 - - - - - RefSeq - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G intron_variant MODIFIER PRKG1 5592 Transcript XM_017016413.2 protein_coding - 3/17 - - - - - - - rs2292828,COSV58656080,COSV58657242 - 1 - EntrezGene HGNC:9414 - - - - - RefSeq - A A - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:51699238-51699238 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000028112 promoter - - - - - - - - - rs2292828,COSV58656080,COSV58657242 - - - - - - - - - - - - - - - - - 0.3157 - 0,1,1 0,1,1 19052777 - - - - - . 10:52290319-52290319 A intron_variant,non_coding_transcript_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000373975.3 protein_coding_CDS_not_defined - 14/14 - - - - - - - rs10762675,COSV64770104 - 1 - HGNC HGNC:9414 - - 2 - - Ensembl - G G - - - 0.4030 benign 0,1 1,1 - - - - - - . 10:52290319-52290319 A intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000373980.11 protein_coding - 17/17 - - - - - - - rs10762675,COSV64770104 - 1 - HGNC HGNC:9414 NM_006258.4 - 1 - - Ensembl - G G - - - 0.4030 benign 0,1 1,1 - - - - - - . 10:52290319-52290319 A intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000401604.8 protein_coding - 17/17 - - - - - - - rs10762675,COSV64770104 - 1 - HGNC HGNC:9414 - - 5 P1 - Ensembl - G G - - - 0.4030 benign 0,1 1,1 - - - - - - . 10:52290319-52290319 A intron_variant,non_coding_transcript_variant MODIFIER PRKG1-AS1 ENSG00000236671 Transcript ENST00000426785.2 lncRNA - 2/3 - - - - - - - rs10762675,COSV64770104 - -1 - HGNC HGNC:45029 - - 1 - - Ensembl - G G - - - 0.4030 benign 0,1 1,1 - - - - - - . 10:52290319-52290319 A intron_variant,non_coding_transcript_variant MODIFIER PRKG1-AS1 ENSG00000236671 Transcript ENST00000452247.7 lncRNA - 5/6 - - - - - - - rs10762675,COSV64770104 - -1 - HGNC HGNC:45029 - - 5 - - Ensembl - G G - - - 0.4030 benign 0,1 1,1 - - - - - - . 10:52290319-52290319 A intron_variant,non_coding_transcript_variant MODIFIER PRKG1-AS1 ENSG00000236671 Transcript ENST00000649494.1 lncRNA - 6/7 - - - - - - - rs10762675,COSV64770104 - -1 - HGNC HGNC:45029 - - - - - Ensembl - G G - - - 0.4030 benign 0,1 1,1 - - - - - - . 10:52290319-52290319 A downstream_gene_variant MODIFIER PRKG1-AS1 ENSG00000236671 Transcript ENST00000658196.1 lncRNA - - - - - - - - - rs10762675,COSV64770104 1105 -1 - HGNC HGNC:45029 - - - - - Ensembl - G G - - - 0.4030 benign 0,1 1,1 - - - - - - . 10:52290319-52290319 A intron_variant MODIFIER PRKG1 ENSG00000185532 Transcript ENST00000672084.1 protein_coding - 10/10 - - - - - - - rs10762675,COSV64770104 - 1 - HGNC HGNC:9414 - - - - - Ensembl - G G - - - 0.4030 benign 0,1 1,1 - - - - - - . 10:52290319-52290319 A intron_variant MODIFIER PRKG1 5592 Transcript NM_001098512.3 protein_coding - 17/17 - - - - - - - rs10762675,COSV64770104 - 1 - EntrezGene HGNC:9414 - - - - - RefSeq - G G - - - 0.4030 benign 0,1 1,1 - - - - - - . 10:52290319-52290319 A intron_variant MODIFIER PRKG1 5592 Transcript NM_001374781.1 protein_coding - 13/13 - - - - - - - rs10762675,COSV64770104 - 1 - EntrezGene HGNC:9414 - - - - - RefSeq - G G - - - 0.4030 benign 0,1 1,1 - - - - - - . 10:52290319-52290319 A intron_variant MODIFIER PRKG1 5592 Transcript NM_006258.4 protein_coding - 17/17 - - - - - - - rs10762675,COSV64770104 - 1 - EntrezGene HGNC:9414 ENST00000373980.11 - - - - RefSeq - G G - - - 0.4030 benign 0,1 1,1 - - - - - - . 10:52290319-52290319 A intron_variant MODIFIER PRKG1 5592 Transcript XM_017016413.2 protein_coding - 17/17 - - - - - - - rs10762675,COSV64770104 - 1 - EntrezGene HGNC:9414 - - - - - RefSeq - G G - - - 0.4030 benign 0,1 1,1 - - - - - - . 10:52411977-52411977 G non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 751 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:52412007-52412007 G non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 781 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:52412028-52412028 G non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 802 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:52412099-52412099 A non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 873 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:52412105-52412105 A non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 879 - - - - rs12413194 - 1 - HGNC HGNC:39567 - - - - - Ensembl - G G - - - 0.1416 - - - - - - - - - . 10:52412112-52412112 A non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 886 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:52412169-52412169 A non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 943 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:52412174-52412174 A non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 948 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:52412228-52412228 C non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 1002 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:52412246-52412246 C non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 1020 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:52412356-52412356 T non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 1130 - - - - rs928393852 - 1 - HGNC HGNC:39567 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:52412804-52412804 A non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 1578 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:52412851-52412851 T non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 1625 - - - - rs10824469 - 1 - HGNC HGNC:39567 - - - - - Ensembl - C C - - - 0.5793 - - - - - - - - - . 10:52412852-52412852 A non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 1626 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:52412884-52412884 A non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 1658 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:52412919-52412919 T non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 1693 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:52412958-52412958 T non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 1732 - - - - rs7074149 - 1 - HGNC HGNC:39567 - - - - - Ensembl - C C - - - 0.1961 - - - - - - - - - . 10:52413009-52413009 A non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 1783 - - - - rs7073271 - 1 - HGNC HGNC:39567 - - - - - Ensembl - G G - - - 0.5793 - - - - - - - - - . 10:52413038-52413038 T non_coding_transcript_exon_variant MODIFIER THAP12P3 ENSG00000227972 Transcript ENST00000456373.1 processed_pseudogene 2/2 - - - 1812 - - - - - - 1 - HGNC HGNC:39567 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:52768506-52768506 C synonymous_variant LOW MBL2 ENSG00000165471 Transcript ENST00000373968.3 protein_coding 4/4 - - - 443 378 126 L ctC/ctG rs930507,CM068190,COSV64759135 - -1 - HGNC HGNC:6922 - - 1 P1 - Ensembl - G G - - - 0.7388 benign,likely_benign 0,0,1 1,1,1 24033266,18396467,21858107,22282660,20522590,27390651,18091754,19366862,18452612,23982929,16750996,32349793,27156515,17846289 - - - - - . 10:52768506-52768506 C synonymous_variant LOW MBL2 ENSG00000165471 Transcript ENST00000674931.1 protein_coding 5/5 - - - 435 378 126 L ctC/ctG rs930507,CM068190,COSV64759135 - -1 - HGNC HGNC:6922 NM_001378373.1 - - P1 - Ensembl - G G - - - 0.7388 benign,likely_benign 0,0,1 1,1,1 24033266,18396467,21858107,22282660,20522590,27390651,18091754,19366862,18452612,23982929,16750996,32349793,27156515,17846289 - - - - - . 10:52768506-52768506 C synonymous_variant LOW MBL2 ENSG00000165471 Transcript ENST00000675947.1 protein_coding 5/5 - - - 450 378 126 L ctC/ctG rs930507,CM068190,COSV64759135 - -1 - HGNC HGNC:6922 - - - P1 - Ensembl - G G - - - 0.7388 benign,likely_benign 0,0,1 1,1,1 24033266,18396467,21858107,22282660,20522590,27390651,18091754,19366862,18452612,23982929,16750996,32349793,27156515,17846289 - - - - - . 10:52768506-52768506 C synonymous_variant LOW MBL2 4153 Transcript NM_000242.3 protein_coding 4/4 - - - 395 378 126 L ctC/ctG rs930507,CM068190,COSV64759135 - -1 - EntrezGene HGNC:6922 - - - - - RefSeq - G G - - - 0.7388 benign,likely_benign 0,0,1 1,1,1 24033266,18396467,21858107,22282660,20522590,27390651,18091754,19366862,18452612,23982929,16750996,32349793,27156515,17846289 - - - - - . 10:52768506-52768506 C synonymous_variant LOW MBL2 4153 Transcript NM_001378373.1 protein_coding 5/5 - - - 435 378 126 L ctC/ctG rs930507,CM068190,COSV64759135 - -1 - EntrezGene HGNC:6922 ENST00000674931.1 - - - - RefSeq - G G - - - 0.7388 benign,likely_benign 0,0,1 1,1,1 24033266,18396467,21858107,22282660,20522590,27390651,18091754,19366862,18452612,23982929,16750996,32349793,27156515,17846289 - - - - - . 10:52768506-52768506 C synonymous_variant LOW MBL2 4153 Transcript NM_001378374.1 protein_coding 5/5 - - - 450 378 126 L ctC/ctG rs930507,CM068190,COSV64759135 - -1 - EntrezGene HGNC:6922 - - - - - RefSeq - G G - - - 0.7388 benign,likely_benign 0,0,1 1,1,1 24033266,18396467,21858107,22282660,20522590,27390651,18091754,19366862,18452612,23982929,16750996,32349793,27156515,17846289 - - - - - . 10:52768506-52768506 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000028204 TF_binding_site - - - - - - - - - rs930507,CM068190,COSV64759135 - - - - - - - - - - - - - - - - - 0.7388 benign,likely_benign 0,0,1 1,1,1 24033266,18396467,21858107,22282660,20522590,27390651,18091754,19366862,18452612,23982929,16750996,32349793,27156515,17846289 - - - - - . 10:52768538-52768538 C intron_variant MODIFIER MBL2 ENSG00000165471 Transcript ENST00000373968.3 protein_coding - 3/3 - - - - - - - rs930508 - -1 - HGNC HGNC:6922 - - 1 P1 - Ensembl - G G - - - 0.7296 - - - 18396467,22282660,27404661,27390651,18452612,30967869,23637788,29915598,17846289 - - - - - . 10:52768538-52768538 C intron_variant MODIFIER MBL2 ENSG00000165471 Transcript ENST00000674931.1 protein_coding - 4/4 - - - - - - - rs930508 - -1 - HGNC HGNC:6922 NM_001378373.1 - - P1 - Ensembl - G G - - - 0.7296 - - - 18396467,22282660,27404661,27390651,18452612,30967869,23637788,29915598,17846289 - - - - - . 10:52768538-52768538 C intron_variant MODIFIER MBL2 ENSG00000165471 Transcript ENST00000675947.1 protein_coding - 4/4 - - - - - - - rs930508 - -1 - HGNC HGNC:6922 - - - P1 - Ensembl - G G - - - 0.7296 - - - 18396467,22282660,27404661,27390651,18452612,30967869,23637788,29915598,17846289 - - - - - . 10:52768538-52768538 C intron_variant MODIFIER MBL2 4153 Transcript NM_000242.3 protein_coding - 3/3 - - - - - - - rs930508 - -1 - EntrezGene HGNC:6922 - - - - - RefSeq - G G - - - 0.7296 - - - 18396467,22282660,27404661,27390651,18452612,30967869,23637788,29915598,17846289 - - - - - . 10:52768538-52768538 C intron_variant MODIFIER MBL2 4153 Transcript NM_001378373.1 protein_coding - 4/4 - - - - - - - rs930508 - -1 - EntrezGene HGNC:6922 ENST00000674931.1 - - - - RefSeq - G G - - - 0.7296 - - - 18396467,22282660,27404661,27390651,18452612,30967869,23637788,29915598,17846289 - - - - - . 10:52768538-52768538 C intron_variant MODIFIER MBL2 4153 Transcript NM_001378374.1 protein_coding - 4/4 - - - - - - - rs930508 - -1 - EntrezGene HGNC:6922 - - - - - RefSeq - G G - - - 0.7296 - - - 18396467,22282660,27404661,27390651,18452612,30967869,23637788,29915598,17846289 - - - - - . 10:52768538-52768538 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000028204 TF_binding_site - - - - - - - - - rs930508 - - - - - - - - - - - - - - - - - 0.7296 - - - 18396467,22282660,27404661,27390651,18452612,30967869,23637788,29915598,17846289 - - - - - . 10:52768538-52768538 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00083684433 - - - - - - - - - - rs930508 - 1 - - - - - - - - - - - - - - - 0.7296 - - - 18396467,22282660,27404661,27390651,18452612,30967869,23637788,29915598,17846289 ENSPFM0215 13 Y -0.038 GCM1::CEBPB . 10:52768538-52768538 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM01051920631 - - - - - - - - - - rs930508 - 1 - - - - - - - - - - - - - - - 0.7296 - - - 18396467,22282660,27404661,27390651,18452612,30967869,23637788,29915598,17846289 ENSPFM0014 5 Y -0.099 ATF4::CEBPB,ATF4::CEBPD,ATF4::TEF,ATF4,CEBPG::ATF4 . 10:52768538-52768538 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00135633123 - - - - - - - - - - rs930508 - -1 - - - - - - - - - - - - - - - 0.7296 - - - 18396467,22282660,27404661,27390651,18452612,30967869,23637788,29915598,17846289 ENSPFM0406 11 N -0.044 MYBL2 . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000373965.6 protein_coding - 34/34 - - - - - - - rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 5 A1 - Ensembl - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000395440.5 protein_coding 12/12 - - - 2035 1640 547 E/A gAg/gCg rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0.02) unknown(0) 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000395442.5 protein_coding 11/11 - - - 1828 1433 478 E/A gAg/gCg rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0.02) unknown(0) 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000395445.6 protein_coding 35/35 - - - 5167 4832 1611 E/A gAg/gCg rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 1 - - Ensembl - T T - deleterious_low_confidence(0) unknown(0) 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000395446.5 protein_coding 18/18 - - - 2821 2426 809 E/A gAg/gCg rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0.01) benign(0) 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G 3_prime_UTR_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000409834.5 protein_coding 29/29 - - - 4297 - - - - rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000414367.5 nonsense_mediated_decay 14/14 - - - 2276 - - - - rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant,non_coding_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000476074.5 retained_intron - 4/4 - - - - - - - rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 3 - - Ensembl - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000495484.5 protein_coding - 8/8 - - - - - - - rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000613657.6 protein_coding 37/37 - - - 5188 4853 1618 E/A gAg/gCg rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) benign(0) 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G 3_prime_UTR_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000615043.1 protein_coding 2/2 - - - 453 - - - - rs11003863,COSV64696777 - -1 cds_start_NF HGNC HGNC:14674 - - 5 - - Ensembl - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000616114.4 protein_coding - 33/33 - - - - - - - rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 1 P4 - Ensembl - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G 3_prime_UTR_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000617271.4 protein_coding 36/36 - - - 5283 - - - - rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000618301.4 protein_coding - 9/9 - - - - - - - rs11003863,COSV64696777 - -1 cds_start_NF HGNC HGNC:14674 - - 5 - - Ensembl - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000621708.4 protein_coding - 35/35 - - - - - - - rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 - - 5 A2 - Ensembl - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000642496.1 protein_coding - 27/27 - - - - - - - rs11003863,COSV64696777 - -1 cds_start_NF HGNC HGNC:14674 - - - - - Ensembl - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000644397.2 protein_coding - 37/37 - - - - - - - rs11003863,COSV64696777 - -1 - HGNC HGNC:14674 NM_001384140.1 - - - - Ensembl - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G missense_variant MODERATE PCDH15 65217 Transcript NM_001142769.3 protein_coding 37/37 - - - 5188 4853 1618 E/A gAg/gCg rs11003863,COSV64696777 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0) 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G 3_prime_UTR_variant MODIFIER PCDH15 65217 Transcript NM_001142770.3 protein_coding 36/36 - - - 5223 - - - - rs11003863,COSV64696777 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 65217 Transcript NM_001142771.2 protein_coding - 35/35 - - - - - - - rs11003863,COSV64696777 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 65217 Transcript NM_001142772.2 protein_coding - 34/34 - - - - - - - rs11003863,COSV64696777 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G missense_variant MODERATE PCDH15 65217 Transcript NM_001354411.2 protein_coding 35/35 - - - 5167 4832 1611 E/A gAg/gCg rs11003863,COSV64696777 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) unknown(0) 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 65217 Transcript NM_001354420.2 protein_coding - 33/33 - - - - - - - rs11003863,COSV64696777 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 65217 Transcript NM_001354429.2 protein_coding - 36/36 - - - - - - - rs11003863,COSV64696777 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 65217 Transcript NM_001384140.1 protein_coding - 37/37 - - - - - - - rs11003863,COSV64696777 - -1 - EntrezGene HGNC:14674 ENST00000644397.2 - - - - RefSeq - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G intron_variant MODIFIER PCDH15 65217 Transcript XM_047425663.1 protein_coding - 32/32 - - - - - - - rs11003863,COSV64696777 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53809212-53809212 G missense_variant MODERATE PCDH15 65217 Transcript XM_047425664.1 protein_coding 36/36 - - - 5167 4832 1611 E/A gAg/gCg rs11003863,COSV64696777 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - - - 0.2981 benign 0,1 1,1 24033266 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 ENSG00000150275 Transcript ENST00000320301.11 protein_coding 33/33 - - - 4916 4581 1527 P ccC/ccA rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - NM_033056.4 1 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 ENSG00000150275 Transcript ENST00000361849.7 protein_coding 34/34 - - - 4982 4587 1529 P ccC/ccA rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000373956.7 nonsense_mediated_decay 32/32 - - - 4896 - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 ENSG00000150275 Transcript ENST00000373957.7 protein_coding 35/35 - - - 4997 4602 1534 P ccC/ccA rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000373965.6 protein_coding - 33/34 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 A1 - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 ENSG00000150275 Transcript ENST00000395430.5 protein_coding 32/32 - - - 4967 4572 1524 P ccC/ccA rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 ENSG00000150275 Transcript ENST00000395433.5 protein_coding 32/32 - - - 4907 4512 1504 P ccC/ccA rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395440.5 protein_coding - 11/11 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395442.5 protein_coding - 10/10 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395445.6 protein_coding - 33/34 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 1 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395446.5 protein_coding - 17/17 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000409834.5 protein_coding - 26/28 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant,NMD_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000414367.5 nonsense_mediated_decay - 12/13 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 ENSG00000150275 Transcript ENST00000437009.5 protein_coding 32/32 - - - 4769 4374 1458 P ccC/ccA rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000448885.5 nonsense_mediated_decay 33/33 - - - 4902 - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T non_coding_transcript_exon_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000463095.2 protein_coding_CDS_not_defined 10/10 - - - 1600 - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 1 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T upstream_gene_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000476074.5 retained_intron - - - - - - - - - rs10825114,COSV57268281 4761 -1 - HGNC HGNC:14674 - - 3 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000495484.5 protein_coding - 4/8 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000613657.6 protein_coding - 35/36 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000616114.4 protein_coding - 32/33 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 1 P4 - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000617271.4 protein_coding - 33/35 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000618301.4 protein_coding - 5/9 - - - - - - - rs10825114,COSV57268281 - -1 cds_start_NF HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000621708.4 protein_coding - 34/35 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 - - 5 A2 - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000642496.1 protein_coding - 22/27 - - - - - - - rs10825114,COSV57268281 - -1 cds_start_NF HGNC HGNC:14674 - - - - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000644397.2 protein_coding - 32/37 - - - - - - - rs10825114,COSV57268281 - -1 - HGNC HGNC:14674 NM_001384140.1 - - - - Ensembl - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 65217 Transcript NM_001142763.2 protein_coding 35/35 - - - 4937 4602 1534 P ccC/ccA rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 65217 Transcript NM_001142764.2 protein_coding 34/34 - - - 4922 4587 1529 P ccC/ccA rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 65217 Transcript NM_001142765.2 protein_coding 32/32 - - - 4709 4374 1458 P ccC/ccA rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 65217 Transcript NM_001142766.2 protein_coding 32/32 - - - 4907 4572 1524 P ccC/ccA rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 65217 Transcript NM_001142767.2 protein_coding 31/31 - - - 4796 4461 1487 P ccC/ccA rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 65217 Transcript NM_001142768.2 protein_coding 33/33 - - - 4856 4521 1507 P ccC/ccA rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 65217 Transcript NM_001142769.3 protein_coding - 35/36 - - - - - - - rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 65217 Transcript NM_001142770.3 protein_coding - 33/35 - - - - - - - rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 65217 Transcript NM_001142771.2 protein_coding - 34/35 - - - - - - - rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 65217 Transcript NM_001142772.2 protein_coding - 33/34 - - - - - - - rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 65217 Transcript NM_001142773.2 protein_coding 32/32 - - - 4847 4512 1504 P ccC/ccA rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 65217 Transcript NM_001354404.2 protein_coding 35/35 - - - 4877 4515 1505 P ccC/ccA rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 65217 Transcript NM_001354411.2 protein_coding - 33/34 - - - - - - - rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 65217 Transcript NM_001354420.2 protein_coding - 32/33 - - - - - - - rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 65217 Transcript NM_001354429.2 protein_coding - 32/36 - - - - - - - rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 65217 Transcript NM_001384140.1 protein_coding - 32/37 - - - - - - - rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 ENST00000644397.2 - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T synonymous_variant LOW PCDH15 65217 Transcript NM_033056.4 protein_coding 33/33 - - - 4916 4581 1527 P ccC/ccA rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - ENST00000320301.11 - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 65217 Transcript XM_047425663.1 protein_coding - 31/32 - - - - - - - rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53823145-53823145 T intron_variant MODIFIER PCDH15 65217 Transcript XM_047425664.1 protein_coding - 34/35 - - - - - - - rs10825114,COSV57268281 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.2837 benign 0,1 1,1 24033266,20132242 - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000320301.11 protein_coding - 30/32 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - NM_033056.4 1 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000361849.7 protein_coding - 30/33 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant,NMD_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000373956.7 nonsense_mediated_decay - 29/31 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000373957.7 protein_coding - 31/34 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000373965.6 protein_coding - 30/34 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 A1 - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395430.5 protein_coding - 30/31 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395433.5 protein_coding - 29/31 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395440.5 protein_coding - 11/11 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395442.5 protein_coding - 10/10 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395445.6 protein_coding - 31/34 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 1 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395446.5 protein_coding - 17/17 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000409834.5 protein_coding - 23/28 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant,NMD_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000414367.5 nonsense_mediated_decay - 10/13 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000437009.5 protein_coding - 28/31 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant,NMD_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000448885.5 nonsense_mediated_decay - 29/32 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant,non_coding_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000463095.2 protein_coding_CDS_not_defined - 7/9 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 1 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000495484.5 protein_coding - 4/8 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000613657.6 protein_coding - 32/36 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000616114.4 protein_coding - 30/33 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 1 P4 - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000617271.4 protein_coding - 30/35 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000618301.4 protein_coding - 3/9 - - - - - - - rs10825117 - -1 cds_start_NF HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000621708.4 protein_coding - 31/35 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 - - 5 A2 - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000642496.1 protein_coding - 20/27 - - - - - - - rs10825117 - -1 cds_start_NF HGNC HGNC:14674 - - - - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000644397.2 protein_coding - 30/37 - - - - - - - rs10825117 - -1 - HGNC HGNC:14674 NM_001384140.1 - - - - Ensembl - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001142763.2 protein_coding - 31/34 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001142764.2 protein_coding - 30/33 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001142765.2 protein_coding - 28/31 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001142766.2 protein_coding - 30/31 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001142767.2 protein_coding - 29/30 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001142768.2 protein_coding - 29/32 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001142769.3 protein_coding - 32/36 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001142770.3 protein_coding - 30/35 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001142771.2 protein_coding - 31/35 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001142772.2 protein_coding - 30/34 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001142773.2 protein_coding - 29/31 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001354404.2 protein_coding - 32/34 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001354411.2 protein_coding - 31/34 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001354420.2 protein_coding - 30/33 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001354429.2 protein_coding - 30/36 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_001384140.1 protein_coding - 30/37 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 ENST00000644397.2 - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript NM_033056.4 protein_coding - 30/32 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - ENST00000320301.11 - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript XM_047425663.1 protein_coding - 30/32 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53831090-53831090 A intron_variant MODIFIER PCDH15 65217 Transcript XM_047425664.1 protein_coding - 31/35 - - - - - - - rs10825117 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.4405 benign - 1 - - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000320301.11 protein_coding 22/33 - - - 3219 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - NM_033056.4 1 - - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.929) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000361849.7 protein_coding 22/34 - - - 3279 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) possibly_damaging(0.89) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000373956.7 nonsense_mediated_decay 21/32 - - - 3199 - - - - rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000373957.7 protein_coding 23/35 - - - 3294 2899 967 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.996) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000373965.6 protein_coding 22/35 - - - 3279 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 A1 - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.996) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000395430.5 protein_coding 22/32 - - - 3279 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.968) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000395433.5 protein_coding 21/32 - - - 3213 2818 940 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.968) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395440.5 protein_coding - 11/11 - - - - - - - rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395442.5 protein_coding - 10/10 - - - - - - - rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000395445.6 protein_coding 23/35 - - - 3240 2905 969 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 1 - - Ensembl - G G - deleterious_low_confidence(0) possibly_damaging(0.858) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395446.5 protein_coding - 17/17 - - - - - - - rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000409834.5 protein_coding 15/29 - - - 2293 1717 573 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) possibly_damaging(0.899) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A intron_variant,NMD_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000414367.5 nonsense_mediated_decay - 8/13 - - - - - - - rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000437009.5 protein_coding 20/32 - - - 3066 2671 891 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.999) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000448885.5 nonsense_mediated_decay 21/33 - - - 3199 - - - - rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000495484.5 protein_coding - 1/8 - - - - - - - rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - - - 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000613657.6 protein_coding 24/37 - - - 3255 2920 974 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.974) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000616114.4 protein_coding 22/34 - - - 3279 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 1 P4 - Ensembl - G G - deleterious_low_confidence(0) possibly_damaging(0.89) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000617271.4 protein_coding 22/36 - - - 3279 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - G G - deleterious_low_confidence(0) possibly_damaging(0.846) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000621708.4 protein_coding 23/36 - - - 3294 2899 967 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 - - 5 A2 - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.994) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000642496.1 protein_coding 12/28 - - - 1743 1744 582 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 cds_start_NF HGNC HGNC:14674 - - - - - Ensembl - G G - deleterious_low_confidence(0) possibly_damaging(0.845) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000644397.2 protein_coding 22/38 - - - 3219 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - HGNC HGNC:14674 NM_001384140.1 - - - - Ensembl - G G - deleterious_low_confidence(0) probably_damaging(0.996) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001142763.2 protein_coding 23/35 - - - 3234 2899 967 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.996) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001142764.2 protein_coding 22/34 - - - 3219 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.89) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001142765.2 protein_coding 20/32 - - - 3006 2671 891 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.999) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001142766.2 protein_coding 22/32 - - - 3219 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.968) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001142767.2 protein_coding 21/31 - - - 3108 2773 925 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.89) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001142768.2 protein_coding 21/33 - - - 3153 2818 940 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.994) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001142769.3 protein_coding 24/37 - - - 3255 2920 974 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.974) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001142770.3 protein_coding 22/36 - - - 3219 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.846) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001142771.2 protein_coding 23/36 - - - 3234 2899 967 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.994) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001142772.2 protein_coding 22/35 - - - 3219 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.996) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001142773.2 protein_coding 21/32 - - - 3153 2818 940 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.968) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001354404.2 protein_coding 24/35 - - - 3180 2818 940 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.966) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001354411.2 protein_coding 23/35 - - - 3240 2905 969 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.858) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001354420.2 protein_coding 22/34 - - - 3219 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.89) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001354429.2 protein_coding 22/37 - - - 3219 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.996) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_001384140.1 protein_coding 22/38 - - - 3219 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 ENST00000644397.2 - - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.996) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript NM_033056.4 protein_coding 22/33 - - - 3219 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - ENST00000320301.11 - - - RefSeq - G G - deleterious_low_confidence(0) probably_damaging(0.929) 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript XM_047425663.1 protein_coding 22/33 - - - 3219 2884 962 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:53961877-53961877 A missense_variant MODERATE PCDH15 65217 Transcript XM_047425664.1 protein_coding 23/36 - - - 3234 2899 967 R/C Cgt/Tgt rs201816080,CM1310667,COSV57282864 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - G G - - - 0.0014 benign,likely_benign,conflicting_interpretations_of_pathogenicity 0,0,1 1,1,1 24033266,23967202,27058588 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000320301.11 protein_coding 11/33 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - NM_033056.4 1 - - Ensembl - T T - deleterious_low_confidence(0) possibly_damaging(0.802) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000361849.7 protein_coding 11/34 - - - 1699 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) possibly_damaging(0.727) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000373955.5 protein_coding 11/21 - - - 1596 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 1 - - Ensembl - T T - deleterious_low_confidence(0) benign(0.296) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant,NMD_transcript_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000373956.7 nonsense_mediated_decay 11/32 - - - 1699 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) benign(0.102) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000373957.7 protein_coding 12/35 - - - 1714 1319 440 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) benign(0.005) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000373965.6 protein_coding 11/35 - - - 1699 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 A1 - Ensembl - T T - deleterious_low_confidence(0) benign(0.02) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000395430.5 protein_coding 11/32 - - - 1699 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) probably_damaging(0.913) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000395433.5 protein_coding 10/32 - - - 1633 1238 413 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) probably_damaging(0.913) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000395440.5 protein_coding 11/12 - - - 1699 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) benign(0.182) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000395442.5 protein_coding - 10/10 - - - - - - - rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - - - 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000395445.6 protein_coding 11/35 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 1 - - Ensembl - T T - deleterious_low_confidence(0) benign(0.402) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000395446.5 protein_coding 11/18 - - - 1699 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) probably_damaging(0.935) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000409834.5 protein_coding 3/29 - - - 692 116 39 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) benign(0.213) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G intron_variant,NMD_transcript_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000414367.5 nonsense_mediated_decay - 8/13 - - - - - - - rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - - - 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000437009.5 protein_coding 11/32 - - - 1699 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0.01) possibly_damaging(0.664) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant,NMD_transcript_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000448885.5 nonsense_mediated_decay 11/33 - - - 1699 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) benign(0.102) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G intron_variant MODIFIER PCDH15 ENSG00000150275 Transcript ENST00000495484.5 protein_coding - 1/8 - - - - - - - rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - - - 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000613657.6 protein_coding 12/37 - - - 1654 1319 440 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) benign(0.047) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000616114.4 protein_coding 11/34 - - - 1699 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 1 P4 - Ensembl - T T - deleterious_low_confidence(0) possibly_damaging(0.518) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000617271.4 protein_coding 11/36 - - - 1699 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) possibly_damaging(0.518) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000621708.4 protein_coding 12/36 - - - 1714 1319 440 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 - - 5 A2 - Ensembl - T T - deleterious_low_confidence(0) benign(0.255) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000642496.1 protein_coding 1/28 - - - 163 164 55 D/A gAt/gCt rs4935502,COSV57312908 - -1 cds_start_NF HGNC HGNC:14674 - - - - - Ensembl - T T - deleterious_low_confidence(0) benign(0.051) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 ENSG00000150275 Transcript ENST00000644397.2 protein_coding 11/38 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - HGNC HGNC:14674 NM_001384140.1 - - - - Ensembl - T T - deleterious_low_confidence(0) benign(0.003) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001142763.2 protein_coding 12/35 - - - 1654 1319 440 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.005) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001142764.2 protein_coding 11/34 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) possibly_damaging(0.727) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001142765.2 protein_coding 11/32 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0.01) possibly_damaging(0.664) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001142766.2 protein_coding 11/32 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) probably_damaging(0.913) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001142767.2 protein_coding 10/31 - - - 1528 1193 398 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) possibly_damaging(0.876) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001142768.2 protein_coding 10/33 - - - 1573 1238 413 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.047) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001142769.3 protein_coding 12/37 - - - 1654 1319 440 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.047) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001142770.3 protein_coding 11/36 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) possibly_damaging(0.518) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001142771.2 protein_coding 12/36 - - - 1654 1319 440 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.255) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001142772.2 protein_coding 11/35 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.02) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001142773.2 protein_coding 10/32 - - - 1573 1238 413 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) probably_damaging(0.913) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001354404.2 protein_coding 13/35 - - - 1600 1238 413 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.02) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001354411.2 protein_coding 11/35 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.402) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001354420.2 protein_coding 11/34 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) possibly_damaging(0.518) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001354429.2 protein_coding 11/37 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.003) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001354430.2 protein_coding 11/21 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.296) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_001384140.1 protein_coding 11/38 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 ENST00000644397.2 - - - - RefSeq - T T - deleterious_low_confidence(0) benign(0.003) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript NM_033056.4 protein_coding 11/33 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - ENST00000320301.11 - - - RefSeq - T T - deleterious_low_confidence(0) possibly_damaging(0.802) 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript XM_047425663.1 protein_coding 11/33 - - - 1639 1304 435 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - - - 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:54195684-54195684 G missense_variant,splice_region_variant MODERATE PCDH15 65217 Transcript XM_047425664.1 protein_coding 12/36 - - - 1654 1319 440 D/A gAt/gCt rs4935502,COSV57312908 - -1 - EntrezGene HGNC:14674 - - - - - RefSeq - T T - - - 0.3452 benign 0,1 1,1 25741868,24033266,16385451,19816713,22607986,29343290,33374679,36490268 - - - - - . 10:58196129-58196129 T missense_variant MODERATE IPMK ENSG00000151151 Transcript ENST00000373935.4 protein_coding 6/6 - - - 1481 1198 400 V/I Gtt/Att rs779545983,COSV64243849 - -1 - HGNC HGNC:20739 NM_152230.5 - 1 P1 - Ensembl - C C - tolerated(1) benign(0.009) - - 0,1 0,1 - - - - - - . 10:58196129-58196129 T missense_variant MODERATE IPMK 253430 Transcript NM_152230.5 protein_coding 6/6 - - - 1481 1198 400 V/I Gtt/Att rs779545983,COSV64243849 - -1 - EntrezGene HGNC:20739 ENST00000373935.4 - - - - RefSeq - C C - tolerated(1) benign(0.009) - - 0,1 0,1 - - - - - - . 10:58196149-58196149 C missense_variant MODERATE IPMK ENSG00000151151 Transcript ENST00000373935.4 protein_coding 6/6 - - - 1461 1178 393 N/S aAc/aGc - - -1 - HGNC HGNC:20739 NM_152230.5 - 1 P1 - Ensembl - T T - deleterious(0.04) benign(0.019) - - - - - - - - - - . 10:58196149-58196149 C missense_variant MODERATE IPMK 253430 Transcript NM_152230.5 protein_coding 6/6 - - - 1461 1178 393 N/S aAc/aGc - - -1 - EntrezGene HGNC:20739 ENST00000373935.4 - - - - RefSeq - T T - deleterious(0.04) benign(0.019) - - - - - - - - - - . 10:58196188-58196188 C missense_variant MODERATE IPMK ENSG00000151151 Transcript ENST00000373935.4 protein_coding 6/6 - - - 1422 1139 380 E/G gAa/gGa - - -1 - HGNC HGNC:20739 NM_152230.5 - 1 P1 - Ensembl - T T - deleterious(0.01) benign(0.011) - - - - - - - - - - . 10:58196188-58196188 C missense_variant MODERATE IPMK 253430 Transcript NM_152230.5 protein_coding 6/6 - - - 1422 1139 380 E/G gAa/gGa - - -1 - EntrezGene HGNC:20739 ENST00000373935.4 - - - - RefSeq - T T - deleterious(0.01) benign(0.011) - - - - - - - - - - . 10:58715587-58715587 A non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 34 - - - - COSV60539858 - 1 - HGNC HGNC:44190 - - - - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - COSV60539858 - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - COSV60539858 - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 573 - - - - COSV60539858 - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - COSV60539858 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - COSV60539858 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - COSV60539858 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - COSV60539858 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - COSV60539858 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - COSV60539858 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - COSV60539858 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - COSV60539858 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - COSV60539858 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - COSV60539858 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715587-58715587 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - COSV60539858 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58715659-58715659 C non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 106 - - - - rs368118191 - 1 - HGNC HGNC:44190 - - - - - Ensembl - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - rs368118191 - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - rs368118191 - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 645 - - - - rs368118191 - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - rs368118191 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - rs368118191 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - rs368118191 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - rs368118191 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - rs368118191 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - rs368118191 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - rs368118191 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - rs368118191 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - rs368118191 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - rs368118191 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715659-58715659 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - rs368118191 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - 0.0002 - - - - - - - - - . 10:58715704-58715704 G non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 151 - - - - - - 1 - HGNC HGNC:44190 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - - - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715704-58715704 G non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 690 - - - - - - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715704-58715704 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715715-58715715 C non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 162 - - - - COSV60540087 - 1 - HGNC HGNC:44190 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - COSV60540087 - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - COSV60540087 - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 701 - - - - COSV60540087 - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - COSV60540087 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - COSV60540087 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - COSV60540087 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - COSV60540087 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - COSV60540087 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - COSV60540087 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - COSV60540087 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - COSV60540087 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - COSV60540087 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - COSV60540087 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715715-58715715 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - COSV60540087 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:58715798-58715798 G non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 245 - - - - - - 1 - HGNC HGNC:44190 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - - - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715798-58715798 G non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 784 - - - - - - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715798-58715798 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 248 - - - - - - 1 - HGNC HGNC:44190 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - - - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 787 - - - - - - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715801-58715801 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:58715901-58715901 G non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 348 - - - - rs1345248350 - 1 - HGNC HGNC:44190 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - rs1345248350 - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - rs1345248350 - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715901-58715901 G non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 887 - - - - rs1345248350 - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - rs1345248350 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - rs1345248350 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - rs1345248350 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - rs1345248350 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - rs1345248350 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - rs1345248350 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - rs1345248350 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - rs1345248350 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - rs1345248350 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - rs1345248350 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715901-58715901 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - rs1345248350 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 391 - - - - rs1242776474 - 1 - HGNC HGNC:44190 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - rs1242776474 - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - rs1242776474 - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 930 - - - - rs1242776474 - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - rs1242776474 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - rs1242776474 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - rs1242776474 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - rs1242776474 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - rs1242776474 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - rs1242776474 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - rs1242776474 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - rs1242776474 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - rs1242776474 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - rs1242776474 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715944-58715944 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - rs1242776474 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58715963-58715963 T non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 410 - - - - rs3816114,COSV60540067 - 1 - HGNC HGNC:44190 - - - - - Ensembl - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - rs3816114,COSV60540067 - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 949 - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58715963-58715963 T intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - rs3816114,COSV60540067 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - 0.6643 - 0,1 0,1 - - - - - - . 10:58716068-58716068 C non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 515 - - - - COSV60539902 - 1 - HGNC HGNC:44190 - - - - - Ensembl - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - COSV60539902 - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - COSV60539902 - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 1054 - - - - COSV60539902 - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - COSV60539902 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - COSV60539902 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - COSV60539902 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - COSV60539902 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - COSV60539902 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - COSV60539902 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - COSV60539902 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - COSV60539902 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - COSV60539902 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - COSV60539902 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716068-58716068 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - COSV60539902 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:58716138-58716138 C non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 585 - - - - - - 1 - HGNC HGNC:44190 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - - - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716138-58716138 C non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 1124 - - - - - - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716138-58716138 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716165-58716165 A non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 612 - - - - rs1165180375 - 1 - HGNC HGNC:44190 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - rs1165180375 - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - rs1165180375 - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716165-58716165 A non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 1151 - - - - rs1165180375 - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - rs1165180375 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - rs1165180375 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - rs1165180375 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - rs1165180375 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - rs1165180375 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - rs1165180375 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - rs1165180375 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - rs1165180375 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - rs1165180375 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - rs1165180375 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716165-58716165 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - rs1165180375 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:58716226-58716226 A non_coding_transcript_exon_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene 1/1 - - - 673 - - - - - - 1 - HGNC HGNC:44190 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - - - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716226-58716226 A non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 1212 - - - - - - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716226-58716226 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C downstream_gene_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene - - - - - - - - - - 6 1 - HGNC HGNC:44190 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - - - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 1249 - - - - - - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716263-58716263 C intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:58716285-58716285 G downstream_gene_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene - - - - - - - - - - 28 1 - HGNC HGNC:44190 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - - - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716285-58716285 G non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 1271 - - - - - - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716285-58716285 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - - - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716374-58716374 A downstream_gene_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene - - - - - - - - - COSV60540311 117 1 - HGNC HGNC:44190 - - - - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - COSV60540311 - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - COSV60540311 - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 1360 - - - - COSV60540311 - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - COSV60540311 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - COSV60540311 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - COSV60540311 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - COSV60540311 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - COSV60540311 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - COSV60540311 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - COSV60540311 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - COSV60540311 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - COSV60540311 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - COSV60540311 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716374-58716374 A intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - COSV60540311 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:58716397-58716397 G downstream_gene_variant MODIFIER FAM133CP ENSG00000183055 Transcript ENST00000332869.5 processed_pseudogene - - - - - - - - - rs1199423726 140 1 - HGNC HGNC:44190 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 3/20 - - - - - - - rs1199423726 - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 80114 Transcript NM_001080512.3 protein_coding - 3/20 - - - - - - - rs1199423726 - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716397-58716397 G non_coding_transcript_exon_variant MODIFIER FAM133CP 728640 Transcript NR_027508.1 transcribed_pseudogene 1/1 - - - 1383 - - - - rs1199423726 - 1 - EntrezGene HGNC:44190 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 80114 Transcript XM_005270169.6 protein_coding - 2/19 - - - - - - - rs1199423726 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 80114 Transcript XM_011540185.3 protein_coding - 4/21 - - - - - - - rs1199423726 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016677.2 protein_coding - 4/21 - - - - - - - rs1199423726 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 80114 Transcript XM_017016678.2 protein_coding - 6/23 - - - - - - - rs1199423726 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448174.1 protein_coding - 3/17 - - - - - - - rs1199423726 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 80114 Transcript XM_024448175.2 protein_coding - 2/19 - - - - - - - rs1199423726 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425777.1 protein_coding - 3/20 - - - - - - - rs1199423726 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425778.1 protein_coding - 9/26 - - - - - - - rs1199423726 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425779.1 protein_coding - 4/21 - - - - - - - rs1199423726 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425780.1 protein_coding - 3/20 - - - - - - - rs1199423726 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58716397-58716397 G intron_variant MODIFIER BICC1 80114 Transcript XM_047425781.1 protein_coding - 3/20 - - - - - - - rs1199423726 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:58813993-58813993 T missense_variant MODERATE BICC1 ENSG00000122870 Transcript ENST00000263103.1 protein_coding 10/10 - - - 1442 1418 473 R/L cGt/cTt rs9416746,COSV54065617,COSV54066870 - 1 - HGNC HGNC:19351 - - 1 - - Ensembl - G G - tolerated_low_confidence(0.14) benign(0) 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 ENSG00000122870 Transcript ENST00000373886.8 protein_coding - 18/20 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - HGNC HGNC:19351 NM_001080512.3 - 1 P1 - Ensembl - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 80114 Transcript NM_001080512.3 protein_coding - 18/20 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 ENST00000373886.8 - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 80114 Transcript XM_005270169.6 protein_coding - 17/19 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 80114 Transcript XM_011540185.3 protein_coding - 19/21 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 80114 Transcript XM_011540191.3 protein_coding - 15/17 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 80114 Transcript XM_017016677.2 protein_coding - 19/21 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 80114 Transcript XM_017016678.2 protein_coding - 21/23 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T missense_variant MODERATE BICC1 80114 Transcript XM_024448174.1 protein_coding 18/18 - - - 2671 2627 876 R/L cGt/cTt rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 80114 Transcript XM_024448175.2 protein_coding - 17/19 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 80114 Transcript XM_047425777.1 protein_coding - 18/20 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 80114 Transcript XM_047425778.1 protein_coding - 24/26 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 80114 Transcript XM_047425779.1 protein_coding - 19/21 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 80114 Transcript XM_047425780.1 protein_coding - 18/20 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:58813993-58813993 T splice_region_variant,intron_variant LOW BICC1 80114 Transcript XM_047425781.1 protein_coding - 18/20 - - - - - - - rs9416746,COSV54065617,COSV54066870 - 1 - EntrezGene HGNC:19351 - - - - - RefSeq - G G - - - 0.7466 benign 0,1,1 1,1,1 16385451 - - - - - . 10:59136607-59136607 G downstream_gene_variant MODIFIER TRAF6P1 ENSG00000226557 Transcript ENST00000429404.1 processed_pseudogene - - - - - - - - - - 18 -1 - HGNC HGNC:45032 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:59136644-59136644 C non_coding_transcript_exon_variant MODIFIER TRAF6P1 ENSG00000226557 Transcript ENST00000429404.1 processed_pseudogene 1/1 - - - 1539 - - - - - - -1 - HGNC HGNC:45032 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:59136674-59136674 C non_coding_transcript_exon_variant MODIFIER TRAF6P1 ENSG00000226557 Transcript ENST00000429404.1 processed_pseudogene 1/1 - - - 1509 - - - - - - -1 - HGNC HGNC:45032 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:59136704-59136704 C non_coding_transcript_exon_variant MODIFIER TRAF6P1 ENSG00000226557 Transcript ENST00000429404.1 processed_pseudogene 1/1 - - - 1479 - - - - - - -1 - HGNC HGNC:45032 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:59136877-59136877 C non_coding_transcript_exon_variant MODIFIER TRAF6P1 ENSG00000226557 Transcript ENST00000429404.1 processed_pseudogene 1/1 - - - 1306 - - - - - - -1 - HGNC HGNC:45032 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:59137152-59137152 G non_coding_transcript_exon_variant MODIFIER TRAF6P1 ENSG00000226557 Transcript ENST00000429404.1 processed_pseudogene 1/1 - - - 1031 - - - - - - -1 - HGNC HGNC:45032 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:59137231-59137231 G non_coding_transcript_exon_variant MODIFIER TRAF6P1 ENSG00000226557 Transcript ENST00000429404.1 processed_pseudogene 1/1 - - - 952 - - - - rs1422112456 - -1 - HGNC HGNC:45032 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:59137291-59137291 G non_coding_transcript_exon_variant MODIFIER TRAF6P1 ENSG00000226557 Transcript ENST00000429404.1 processed_pseudogene 1/1 - - - 892 - - - - - - -1 - HGNC HGNC:45032 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:59137340-59137340 C non_coding_transcript_exon_variant MODIFIER TRAF6P1 ENSG00000226557 Transcript ENST00000429404.1 processed_pseudogene 1/1 - - - 843 - - - - - - -1 - HGNC HGNC:45032 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:59245484-59245484 C missense_variant MODERATE PHYHIPL ENSG00000165443 Transcript ENST00000373878.3 protein_coding 5/5 - - - 1279 946 316 V/L Gtg/Ctg rs2452505 - 1 - HGNC HGNC:29378 - - 1 - - Ensembl - G G - tolerated(1) benign(0) 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C missense_variant MODERATE PHYHIPL ENSG00000165443 Transcript ENST00000373880.9 protein_coding 5/5 - - - 1235 1024 342 V/L Gtg/Ctg rs2452505 - 1 - HGNC HGNC:29378 NM_032439.4 - 1 P1 - Ensembl - G G - tolerated(1) benign(0) 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000468840.6 protein_coding - - - - - - - - - rs2452505 2083 -1 - HGNC HGNC:19371 - - 2 P4 - Ensembl - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PHYHIPL ENSG00000165443 Transcript ENST00000486074.2 nonsense_mediated_decay 6/6 - - - 1308 - - - - rs2452505 - 1 - HGNC HGNC:29378 - - 2 - - Ensembl - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000489341.5 nonsense_mediated_decay - - - - - - - - - rs2452505 2208 -1 cds_start_NF HGNC HGNC:19371 - - 3 - - Ensembl - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000611933.4 protein_coding - - - - - - - - - rs2452505 695 -1 - HGNC HGNC:19371 - - 1 - - Ensembl - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000614220.4 protein_coding - - - - - - - - - rs2452505 650 -1 - HGNC HGNC:19371 - - 5 - - Ensembl - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000618427.4 protein_coding - - - - - - - - - rs2452505 646 -1 - HGNC HGNC:19371 - - 2 A1 - Ensembl - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000618804.5 protein_coding - - - - - - - - - rs2452505 649 -1 - HGNC HGNC:19371 NM_198215.4 - 1 A1 - Ensembl - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000621119.4 protein_coding - - - - - - - - - rs2452505 652 -1 - HGNC HGNC:19371 - - 5 - - Ensembl - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000622363.4 nonsense_mediated_decay - - - - - - - - - rs2452505 652 -1 - HGNC HGNC:19371 - - 2 - - Ensembl - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript NM_001001971.3 protein_coding - - - - - - - - - rs2452505 649 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript NM_001143773.1 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G OK - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C missense_variant MODERATE PHYHIPL 84457 Transcript NM_001143774.2 protein_coding 5/5 - - - 1373 946 316 V/L Gtg/Ctg rs2452505 - 1 - EntrezGene HGNC:29378 - - - - - RefSeq - G G - tolerated(1) benign(0) 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript NM_001166698.2 protein_coding - - - - - - - - - rs2452505 649 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript NM_001347840.2 protein_coding - - - - - - - - - rs2452505 649 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript NM_001347842.2 protein_coding - - - - - - - - - rs2452505 649 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript NM_001347843.1 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G OK - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript NM_001347844.1 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G OK - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript NM_001347845.1 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G OK - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript NM_001347847.1 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G OK - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript NM_001347848.1 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G OK - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript NM_001347850.2 protein_coding - - - - - - - - - rs2452505 649 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C missense_variant MODERATE PHYHIPL 84457 Transcript NM_032439.4 protein_coding 5/5 - - - 1235 1024 342 V/L Gtg/Ctg rs2452505 - 1 - EntrezGene HGNC:29378 ENST00000373880.9 - - - - RefSeq - G G - tolerated(1) benign(0) 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript NM_198215.4 protein_coding - - - - - - - - - rs2452505 649 -1 - EntrezGene HGNC:19371 ENST00000618804.5 - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript XM_005269618.5 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript XM_005269619.5 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript XM_006717702.4 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C missense_variant MODERATE PHYHIPL 84457 Transcript XM_011540275.4 protein_coding 6/6 - - - 1326 886 296 V/L Gtg/Ctg rs2452505 - 1 - EntrezGene HGNC:29378 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C missense_variant MODERATE PHYHIPL 84457 Transcript XM_011540276.4 protein_coding 5/5 - - - 3397 886 296 V/L Gtg/Ctg rs2452505 - 1 - EntrezGene HGNC:29378 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript XM_017015886.2 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript XM_017015891.2 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C missense_variant MODERATE PHYHIPL 84457 Transcript XM_017016782.2 protein_coding 6/6 - - - 1171 886 296 V/L Gtg/Ctg rs2452505 - 1 - EntrezGene HGNC:29378 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C missense_variant MODERATE PHYHIPL 84457 Transcript XM_017016783.3 protein_coding 6/6 - - - 3488 886 296 V/L Gtg/Ctg rs2452505 - 1 - EntrezGene HGNC:29378 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript XM_024447880.2 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript XM_024447881.2 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59245484-59245484 C downstream_gene_variant MODIFIER FAM13C 220965 Transcript XM_047424761.1 protein_coding - - - - - - - - - rs2452505 645 -1 - EntrezGene HGNC:19371 - - - - - RefSeq - G G - - - 0.7396 - - - 16385451 - - - - - . 10:59254296-59254296 A 3_prime_UTR_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000422313.6 protein_coding 11/11 - - - 1384 - - - - rs1903252 - -1 - HGNC HGNC:19371 - - 5 - - Ensembl - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000435852.6 protein_coding - 11/12 - - - - - - - rs1903252 - -1 - HGNC HGNC:19371 - - 2 - - Ensembl - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000468840.6 protein_coding - 12/14 - - - - - - - rs1903252 - -1 - HGNC HGNC:19371 - - 2 P4 - Ensembl - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant,NMD_transcript_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000489341.5 nonsense_mediated_decay - 3/5 - - - - - - - rs1903252 - -1 cds_start_NF HGNC HGNC:19371 - - 3 - - Ensembl - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000611933.4 protein_coding - 9/11 - - - - - - - rs1903252 - -1 - HGNC HGNC:19371 - - 1 - - Ensembl - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000614220.4 protein_coding - 11/13 - - - - - - - rs1903252 - -1 - HGNC HGNC:19371 - - 5 - - Ensembl - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000618427.4 protein_coding - 12/14 - - - - - - - rs1903252 - -1 - HGNC HGNC:19371 - - 2 A1 - Ensembl - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000618804.5 protein_coding - 11/13 - - - - - - - rs1903252 - -1 - HGNC HGNC:19371 NM_198215.4 - 1 A1 - Ensembl - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000621119.4 protein_coding - 11/13 - - - - - - - rs1903252 - -1 - HGNC HGNC:19371 - - 5 - - Ensembl - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant,NMD_transcript_variant MODIFIER FAM13C ENSG00000148541 Transcript ENST00000622363.4 nonsense_mediated_decay - 12/14 - - - - - - - rs1903252 - -1 - HGNC HGNC:19371 - - 2 - - Ensembl - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001001971.3 protein_coding - 9/11 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001143773.1 protein_coding - 12/14 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C OK - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001166698.2 protein_coding - 12/14 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001347840.2 protein_coding - 12/14 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001347842.2 protein_coding - 12/14 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001347843.1 protein_coding - 12/14 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C OK - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001347844.1 protein_coding - 13/15 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C OK - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001347845.1 protein_coding - 10/12 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C OK - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001347846.1 protein_coding - 12/13 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001347847.1 protein_coding - 13/15 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C OK - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001347848.1 protein_coding - 13/15 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C OK - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001347849.2 protein_coding - 11/12 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001347850.2 protein_coding - 12/14 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001347851.2 protein_coding - 12/13 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_001347852.2 protein_coding - 11/12 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript NM_198215.4 protein_coding - 11/13 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 ENST00000618804.5 - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript XM_005269618.5 protein_coding - 11/13 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript XM_005269619.5 protein_coding - 9/11 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript XM_006717702.4 protein_coding - 13/15 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript XM_017015886.2 protein_coding - 12/14 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript XM_017015891.2 protein_coding - 10/12 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript XM_024447880.2 protein_coding - 8/10 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript XM_024447881.2 protein_coding - 8/10 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59254296-59254296 A intron_variant MODIFIER FAM13C 220965 Transcript XM_047424761.1 protein_coding - 10/12 - - - - - - - rs1903252 - -1 - EntrezGene HGNC:19371 - - - - - RefSeq - C C - - - 0.7280 - - - - - - - - - . 10:59792934-59792934 T missense_variant MODERATE CCDC6 ENSG00000108091 Transcript ENST00000263102.7 protein_coding 9/9 - - - 1540 1408 470 P/T Ccc/Acc rs1053266,COSV54054295 - -1 - HGNC HGNC:18782 NM_005436.5 - 1 P1 - Ensembl - G G - deleterious_low_confidence(0.03) unknown(0) 0.4353 - 0,1 0,1 24086368,29930802,16385451 - - - - - . 10:59792934-59792934 T non_coding_transcript_exon_variant MODIFIER CCDC6 ENSG00000108091 Transcript ENST00000491922.1 retained_intron 3/3 - - - 1460 - - - - rs1053266,COSV54054295 - -1 - HGNC HGNC:18782 - - 2 - - Ensembl - G G - - - 0.4353 - 0,1 0,1 24086368,29930802,16385451 - - - - - . 10:59792934-59792934 T missense_variant MODERATE CCDC6 8030 Transcript NM_005436.5 protein_coding 9/9 - - - 1540 1408 470 P/T Ccc/Acc rs1053266,COSV54054295 - -1 - EntrezGene HGNC:18782 ENST00000263102.7 - - - - RefSeq - G G - deleterious_low_confidence(0.03) unknown(0) 0.4353 - 0,1 0,1 24086368,29930802,16385451 - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000280772.7 protein_coding - 42/43 - - - - - - - rs2393609 - -1 - HGNC HGNC:494 NM_020987.5 - 1 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000355288.6 protein_coding - 19/20 - - - - - - - rs2393609 - -1 - HGNC HGNC:494 - - 1 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000373820.5 protein_coding - 9/10 - - - - - - - rs2393609 - -1 cds_start_NF HGNC HGNC:494 - - 2 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000373827.6 protein_coding - 42/43 - - - - - - - rs2393609 - -1 - HGNC HGNC:494 - - 1 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A upstream_gene_variant MODIFIER - ENSG00000232682 Transcript ENST00000414383.1 lncRNA - - - - - - - - - rs2393609 297 1 - - - - - 3 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000467420.7 protein_coding - 43/44 - - - - - - - rs2393609 - -1 - HGNC HGNC:494 - - 5 P1 - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A downstream_gene_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000469721.3 retained_intron - - - - - - - - - rs2393609 199 -1 - HGNC HGNC:494 - - 2 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A upstream_gene_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000480699.5 protein_coding_CDS_not_defined - - - - - - - - - rs2393609 3973 -1 - HGNC HGNC:494 - - 3 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000502769.5 protein_coding - 1/3 - - - - - - - rs2393609 - -1 cds_start_NF HGNC HGNC:494 - - 3 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000503366.6 protein_coding - 42/43 - - - - - - - rs2393609 - -1 - HGNC HGNC:494 - - 2 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A downstream_gene_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000511043.5 protein_coding - - - - - - - - - rs2393609 4123 -1 cds_start_NF,cds_end_NF HGNC HGNC:494 - - 3 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A downstream_gene_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000514197.5 protein_coding - - - - - - - - - rs2393609 3815 -1 cds_start_NF,cds_end_NF HGNC HGNC:494 - - 5 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000610321.4 protein_coding - 15/15 - - - - - - - rs2393609 - -1 cds_start_NF HGNC HGNC:494 - - 5 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A downstream_gene_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000610901.4 protein_coding - - - - - - - - - rs2393609 423 -1 cds_start_NF,cds_end_NF HGNC HGNC:494 - - 5 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000612776.4 protein_coding - 2/3 - - - - - - - rs2393609 - -1 cds_start_NF HGNC HGNC:494 - - 3 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A downstream_gene_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000613207.4 protein_coding - - - - - - - - - rs2393609 4363 -1 cds_start_NF,cds_end_NF HGNC HGNC:494 - - 5 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000616444.4 protein_coding - 14/17 - - - - - - - rs2393609 - -1 cds_start_NF HGNC HGNC:494 - - 5 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000617800.4 protein_coding - 1/5 - - - - - - - rs2393609 - -1 cds_start_NF HGNC HGNC:494 - - 5 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000232682 Transcript ENST00000619719.1 lncRNA - 1/1 - - - - - - - rs2393609 - 1 - - - - - 5 - - Ensembl - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 288 Transcript NM_001149.4 protein_coding - 19/20 - - - - - - - rs2393609 - -1 - EntrezGene HGNC:494 - - - - - RefSeq - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 288 Transcript NM_001204403.2 protein_coding - 42/43 - - - - - - - rs2393609 - -1 - EntrezGene HGNC:494 - - - - - RefSeq - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 288 Transcript NM_001204404.2 protein_coding - 42/43 - - - - - - - rs2393609 - -1 - EntrezGene HGNC:494 - - - - - RefSeq - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 288 Transcript NM_001320874.2 protein_coding - 41/42 - - - - - - - rs2393609 - -1 - EntrezGene HGNC:494 - - - - - RefSeq - C C - - - 0.9183 - - - - - - - - - . 10:60055577-60055577 A intron_variant MODIFIER ANK3 288 Transcript NM_020987.5 protein_coding - 42/43 - - - - - - - rs2393609 - -1 - EntrezGene HGNC:494 ENST00000280772.7 - - - - RefSeq - C C - - - 0.9183 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000280772.7 protein_coding - 42/43 - - - - - - - rs4948384 - -1 - HGNC HGNC:494 NM_020987.5 - 1 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000355288.6 protein_coding - 19/20 - - - - - - - rs4948384 - -1 - HGNC HGNC:494 - - 1 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000373820.5 protein_coding - 9/10 - - - - - - - rs4948384 - -1 cds_start_NF HGNC HGNC:494 - - 2 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000373827.6 protein_coding - 42/43 - - - - - - - rs4948384 - -1 - HGNC HGNC:494 - - 1 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T upstream_gene_variant MODIFIER - ENSG00000232682 Transcript ENST00000414383.1 lncRNA - - - - - - - - - rs4948384 265 1 - - - - - 3 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000467420.7 protein_coding - 43/44 - - - - - - - rs4948384 - -1 - HGNC HGNC:494 - - 5 P1 - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T downstream_gene_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000469721.3 retained_intron - - - - - - - - - rs4948384 167 -1 - HGNC HGNC:494 - - 2 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T upstream_gene_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000480699.5 protein_coding_CDS_not_defined - - - - - - - - - rs4948384 4005 -1 - HGNC HGNC:494 - - 3 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000502769.5 protein_coding - 1/3 - - - - - - - rs4948384 - -1 cds_start_NF HGNC HGNC:494 - - 3 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000503366.6 protein_coding - 42/43 - - - - - - - rs4948384 - -1 - HGNC HGNC:494 - - 2 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T downstream_gene_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000511043.5 protein_coding - - - - - - - - - rs4948384 4091 -1 cds_start_NF,cds_end_NF HGNC HGNC:494 - - 3 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T downstream_gene_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000514197.5 protein_coding - - - - - - - - - rs4948384 3783 -1 cds_start_NF,cds_end_NF HGNC HGNC:494 - - 5 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000610321.4 protein_coding - 15/15 - - - - - - - rs4948384 - -1 cds_start_NF HGNC HGNC:494 - - 5 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T downstream_gene_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000610901.4 protein_coding - - - - - - - - - rs4948384 391 -1 cds_start_NF,cds_end_NF HGNC HGNC:494 - - 5 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000612776.4 protein_coding - 2/3 - - - - - - - rs4948384 - -1 cds_start_NF HGNC HGNC:494 - - 3 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T downstream_gene_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000613207.4 protein_coding - - - - - - - - - rs4948384 4331 -1 cds_start_NF,cds_end_NF HGNC HGNC:494 - - 5 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000616444.4 protein_coding - 14/17 - - - - - - - rs4948384 - -1 cds_start_NF HGNC HGNC:494 - - 5 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000617800.4 protein_coding - 1/5 - - - - - - - rs4948384 - -1 cds_start_NF HGNC HGNC:494 - - 5 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000232682 Transcript ENST00000619719.1 lncRNA - 1/1 - - - - - - - rs4948384 - 1 - - - - - 5 - - Ensembl - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 288 Transcript NM_001149.4 protein_coding - 19/20 - - - - - - - rs4948384 - -1 - EntrezGene HGNC:494 - - - - - RefSeq - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 288 Transcript NM_001204403.2 protein_coding - 42/43 - - - - - - - rs4948384 - -1 - EntrezGene HGNC:494 - - - - - RefSeq - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 288 Transcript NM_001204404.2 protein_coding - 42/43 - - - - - - - rs4948384 - -1 - EntrezGene HGNC:494 - - - - - RefSeq - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 288 Transcript NM_001320874.2 protein_coding - 41/42 - - - - - - - rs4948384 - -1 - EntrezGene HGNC:494 - - - - - RefSeq - C C - - - 0.1196 - - - - - - - - - . 10:60055609-60055609 T intron_variant MODIFIER ANK3 288 Transcript NM_020987.5 protein_coding - 42/43 - - - - - - - rs4948384 - -1 - EntrezGene HGNC:494 ENST00000280772.7 - - - - RefSeq - C C - - - 0.1196 - - - - - - - - - . 10:60685064-60685064 C intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000373827.6 protein_coding - 1/43 - - - - - - - rs1837949,COSV65756587 - -1 - HGNC HGNC:494 - - 1 - - Ensembl - T T - - - 0.2963 - 0,1 0,1 16385451 - - - - - . 10:60685064-60685064 C non_coding_transcript_exon_variant MODIFIER ARL4AP1 ENSG00000122872 Transcript ENST00000503220.1 processed_pseudogene 1/1 - - - 560 - - - - rs1837949,COSV65756587 - 1 - HGNC HGNC:17741 - - - - - Ensembl - T T - - - 0.2963 - 0,1 0,1 16385451 - - - - - . 10:60685064-60685064 C intron_variant,non_coding_transcript_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000510382.1 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs1837949,COSV65756587 - -1 - HGNC HGNC:494 - - 2 - - Ensembl - T T - - - 0.2963 - 0,1 0,1 16385451 - - - - - . 10:60685064-60685064 C intron_variant MODIFIER ANK3 288 Transcript NM_001204403.2 protein_coding - 1/43 - - - - - - - rs1837949,COSV65756587 - -1 - EntrezGene HGNC:494 - - - - - RefSeq - T T - - - 0.2963 - 0,1 0,1 16385451 - - - - - . 10:60685207-60685207 C intron_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000373827.6 protein_coding - 1/43 - - - - - - - rs1837950 - -1 - HGNC HGNC:494 - - 1 - - Ensembl - T T - - - 0.6689 - - - 16385451,27811378 - - - - - . 10:60685207-60685207 C non_coding_transcript_exon_variant MODIFIER ARL4AP1 ENSG00000122872 Transcript ENST00000503220.1 processed_pseudogene 1/1 - - - 703 - - - - rs1837950 - 1 - HGNC HGNC:17741 - - - - - Ensembl - T T - - - 0.6689 - - - 16385451,27811378 - - - - - . 10:60685207-60685207 C intron_variant,non_coding_transcript_variant MODIFIER ANK3 ENSG00000151150 Transcript ENST00000510382.1 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs1837950 - -1 - HGNC HGNC:494 - - 2 - - Ensembl - T T - - - 0.6689 - - - 16385451,27811378 - - - - - . 10:60685207-60685207 C intron_variant MODIFIER ANK3 288 Transcript NM_001204403.2 protein_coding - 1/43 - - - - - - - rs1837950 - -1 - EntrezGene HGNC:494 - - - - - RefSeq - T T - - - 0.6689 - - - 16385451,27811378 - - - - - . 10:61760940-61760940 C synonymous_variant LOW CABCOCO1 ENSG00000183346 Transcript ENST00000330194.2 protein_coding 6/7 - - - 794 489 163 F ttT/ttC rs1992625,COSV57594354 - 1 - HGNC HGNC:28678 - - 1 P1 - Ensembl - T T - - - 0.8720 - 0,1 0,1 - - - - - - . 10:61760940-61760940 C synonymous_variant LOW CABCOCO1 ENSG00000183346 Transcript ENST00000648843.3 protein_coding 7/8 - - - 797 753 251 F ttT/ttC rs1992625,COSV57594354 - 1 - HGNC HGNC:28678 NM_001366906.2 - - - - Ensembl - T T - - - 0.8720 - 0,1 0,1 - - - - - - . 10:61760940-61760940 C synonymous_variant LOW CABCOCO1 219621 Transcript NM_001366905.2 protein_coding 6/7 - - - 693 489 163 F ttT/ttC rs1992625,COSV57594354 - 1 - EntrezGene HGNC:28678 - - - - - RefSeq - T T - - - 0.8720 - 0,1 0,1 - - - - - - . 10:61760940-61760940 C synonymous_variant LOW CABCOCO1 219621 Transcript NM_001366906.2 protein_coding 7/8 - - - 797 753 251 F ttT/ttC rs1992625,COSV57594354 - 1 - EntrezGene HGNC:28678 ENST00000648843.3 - - - - RefSeq - T T - - - 0.8720 - 0,1 0,1 - - - - - - . 10:61760940-61760940 C synonymous_variant LOW CABCOCO1 219621 Transcript NM_001366908.2 protein_coding 7/8 - - - 930 615 205 F ttT/ttC rs1992625,COSV57594354 - 1 - EntrezGene HGNC:28678 - - - - - RefSeq - T T - - - 0.8720 - 0,1 0,1 - - - - - - . 10:61760940-61760940 C synonymous_variant LOW CABCOCO1 219621 Transcript NM_173554.3 protein_coding 6/7 - - - 826 489 163 F ttT/ttC rs1992625,COSV57594354 - 1 - EntrezGene HGNC:28678 - - - - - RefSeq - T T - - - 0.8720 - 0,1 0,1 - - - - - - . 10:61760940-61760940 C synonymous_variant LOW CABCOCO1 219621 Transcript XM_005269598.4 protein_coding 7/8 - - - 786 615 205 F ttT/ttC rs1992625,COSV57594354 - 1 - EntrezGene HGNC:28678 - - - - - RefSeq - T T - - - 0.8720 - 0,1 0,1 - - - - - - . 10:61760940-61760940 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000945373 enhancer - - - - - - - - - rs1992625,COSV57594354 - - - - - - - - - - - - - - - - - 0.8720 - 0,1 0,1 - - - - - - . 10:62198353-62198353 C missense_variant MODERATE RTKN2 ENSG00000182010 Transcript ENST00000315289.6 protein_coding 8/9 - - - 960 791 264 H/R cAt/cGt rs3125734,CM128676 - -1 - HGNC HGNC:19364 - - 2 - - Ensembl - T T - tolerated(0.14) benign(0) 0.5889 - - 1,1 26729753,28774272,23028356,29340042,34199962,35088123 - - - - - . 10:62198353-62198353 C missense_variant MODERATE RTKN2 ENSG00000182010 Transcript ENST00000373789.8 protein_coding 12/12 - - - 1619 1385 462 H/R cAt/cGt rs3125734,CM128676 - -1 - HGNC HGNC:19364 NM_145307.4 - 1 P1 - Ensembl - T T - tolerated(0.11) benign(0) 0.5889 - - 1,1 26729753,28774272,23028356,29340042,34199962,35088123 - - - - - . 10:62198353-62198353 C missense_variant MODERATE RTKN2 219790 Transcript NM_145307.4 protein_coding 12/12 - - - 1619 1385 462 H/R cAt/cGt rs3125734,CM128676 - -1 - EntrezGene HGNC:19364 ENST00000373789.8 - - - - RefSeq - T T - tolerated(0.11) benign(0) 0.5889 - - 1,1 26729753,28774272,23028356,29340042,34199962,35088123 - - - - - . 10:62198353-62198353 C missense_variant MODERATE RTKN2 219790 Transcript XM_011539456.3 protein_coding 14/14 - - - 1724 1490 497 H/R cAt/cGt rs3125734,CM128676 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - T T - - - 0.5889 - - 1,1 26729753,28774272,23028356,29340042,34199962,35088123 - - - - - . 10:62198353-62198353 C missense_variant MODERATE RTKN2 219790 Transcript XM_011539457.4 protein_coding 14/15 - - - 1724 1490 497 H/R cAt/cGt rs3125734,CM128676 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - T T - - - 0.5889 - - 1,1 26729753,28774272,23028356,29340042,34199962,35088123 - - - - - . 10:62198353-62198353 C missense_variant MODERATE RTKN2 219790 Transcript XM_011539460.3 protein_coding 14/15 - - - 1724 1490 497 H/R cAt/cGt rs3125734,CM128676 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - T T - - - 0.5889 - - 1,1 26729753,28774272,23028356,29340042,34199962,35088123 - - - - - . 10:62198353-62198353 C missense_variant MODERATE RTKN2 219790 Transcript XM_017015844.3 protein_coding 12/13 - - - 1619 1385 462 H/R cAt/cGt rs3125734,CM128676 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - T T - - - 0.5889 - - 1,1 26729753,28774272,23028356,29340042,34199962,35088123 - - - - - . 10:62198353-62198353 C missense_variant MODERATE RTKN2 219790 Transcript XM_047424717.1 protein_coding 12/13 - - - 1619 1385 462 H/R cAt/cGt rs3125734,CM128676 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - T T - - - 0.5889 - - 1,1 26729753,28774272,23028356,29340042,34199962,35088123 - - - - - . 10:62217310-62217310 T intron_variant MODIFIER RTKN2 ENSG00000182010 Transcript ENST00000315289.6 protein_coding - 3/8 - - - - - - - rs1432414 - -1 - HGNC HGNC:19364 - - 2 - - Ensembl - A A - - - 0.7542 - - - - - - - - - . 10:62217310-62217310 T intron_variant MODIFIER RTKN2 ENSG00000182010 Transcript ENST00000373789.8 protein_coding - 8/11 - - - - - - - rs1432414 - -1 - HGNC HGNC:19364 NM_145307.4 - 1 P1 - Ensembl - A A - - - 0.7542 - - - - - - - - - . 10:62217310-62217310 T intron_variant MODIFIER RTKN2 219790 Transcript NM_145307.4 protein_coding - 8/11 - - - - - - - rs1432414 - -1 - EntrezGene HGNC:19364 ENST00000373789.8 - - - - RefSeq - A A - - - 0.7542 - - - - - - - - - . 10:62217310-62217310 T intron_variant MODIFIER RTKN2 219790 Transcript XM_011539456.3 protein_coding - 8/13 - - - - - - - rs1432414 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7542 - - - - - - - - - . 10:62217310-62217310 T intron_variant MODIFIER RTKN2 219790 Transcript XM_011539457.4 protein_coding - 8/14 - - - - - - - rs1432414 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7542 - - - - - - - - - . 10:62217310-62217310 T intron_variant MODIFIER RTKN2 219790 Transcript XM_011539460.3 protein_coding - 8/14 - - - - - - - rs1432414 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7542 - - - - - - - - - . 10:62217310-62217310 T intron_variant MODIFIER RTKN2 219790 Transcript XM_017015844.3 protein_coding - 8/12 - - - - - - - rs1432414 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7542 - - - - - - - - - . 10:62217310-62217310 T intron_variant MODIFIER RTKN2 219790 Transcript XM_047424717.1 protein_coding - 8/12 - - - - - - - rs1432414 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7542 - - - - - - - - - . 10:62217310-62217310 T intron_variant MODIFIER RTKN2 219790 Transcript XM_047424718.1 protein_coding - 8/9 - - - - - - - rs1432414 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7542 - - - - - - - - - . 10:62217310-62217310 T intron_variant,non_coding_transcript_variant MODIFIER RTKN2 219790 Transcript XR_945618.3 misc_RNA - 8/12 - - - - - - - rs1432414 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7542 - - - - - - - - - . 10:62223225-62223225 G intron_variant MODIFIER RTKN2 ENSG00000182010 Transcript ENST00000315289.6 protein_coding - 2/8 - - - - - - - rs10740069 - -1 - HGNC HGNC:19364 - - 2 - - Ensembl - A A - - - 0.7540 - - - - - - - - - . 10:62223225-62223225 G intron_variant MODIFIER RTKN2 ENSG00000182010 Transcript ENST00000373789.8 protein_coding - 7/11 - - - - - - - rs10740069 - -1 - HGNC HGNC:19364 NM_145307.4 - 1 P1 - Ensembl - A A - - - 0.7540 - - - - - - - - - . 10:62223225-62223225 G intron_variant MODIFIER RTKN2 219790 Transcript NM_145307.4 protein_coding - 7/11 - - - - - - - rs10740069 - -1 - EntrezGene HGNC:19364 ENST00000373789.8 - - - - RefSeq - A A - - - 0.7540 - - - - - - - - - . 10:62223225-62223225 G intron_variant MODIFIER RTKN2 219790 Transcript XM_011539456.3 protein_coding - 7/13 - - - - - - - rs10740069 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7540 - - - - - - - - - . 10:62223225-62223225 G intron_variant MODIFIER RTKN2 219790 Transcript XM_011539457.4 protein_coding - 7/14 - - - - - - - rs10740069 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7540 - - - - - - - - - . 10:62223225-62223225 G intron_variant MODIFIER RTKN2 219790 Transcript XM_011539460.3 protein_coding - 7/14 - - - - - - - rs10740069 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7540 - - - - - - - - - . 10:62223225-62223225 G intron_variant MODIFIER RTKN2 219790 Transcript XM_017015844.3 protein_coding - 7/12 - - - - - - - rs10740069 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7540 - - - - - - - - - . 10:62223225-62223225 G intron_variant MODIFIER RTKN2 219790 Transcript XM_047424717.1 protein_coding - 7/12 - - - - - - - rs10740069 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7540 - - - - - - - - - . 10:62223225-62223225 G intron_variant MODIFIER RTKN2 219790 Transcript XM_047424718.1 protein_coding - 7/9 - - - - - - - rs10740069 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7540 - - - - - - - - - . 10:62223225-62223225 G intron_variant,non_coding_transcript_variant MODIFIER RTKN2 219790 Transcript XR_945618.3 misc_RNA - 7/12 - - - - - - - rs10740069 - -1 - EntrezGene HGNC:19364 - - - - - RefSeq - A A - - - 0.7540 - - - - - - - - - . 10:62399574-62399574 T missense_variant MODERATE ZNF365 ENSG00000138311 Transcript ENST00000395254.8 protein_coding 5/5 - - - 1112 1009 337 A/S Gcc/Tcc rs3758490,COSV67925197,COSV67926312 - 1 - HGNC HGNC:18194 NM_014951.3 - 1 P1 - Ensembl - G G - tolerated(0.07) benign(0.034) 0.4439 benign 0,1,1 1,1,1 21853134,16385451,27156515 - - - - - . 10:62399574-62399574 T intron_variant MODIFIER ZNF365 ENSG00000138311 Transcript ENST00000395255.7 protein_coding - 3/4 - - - - - - - rs3758490,COSV67925197,COSV67926312 - 1 - HGNC HGNC:18194 - - 1 - - Ensembl - G G - - - 0.4439 benign 0,1,1 1,1,1 21853134,16385451,27156515 - - - - - . 10:62399574-62399574 T non_coding_transcript_exon_variant MODIFIER ZNF365 ENSG00000138311 Transcript ENST00000466727.1 protein_coding_CDS_not_defined 4/4 - - - 372 - - - - rs3758490,COSV67925197,COSV67926312 - 1 - HGNC HGNC:18194 - - 1 - - Ensembl - G G - - - 0.4439 benign 0,1,1 1,1,1 21853134,16385451,27156515 - - - - - . 10:62399574-62399574 T missense_variant MODERATE ZNF365 22891 Transcript NM_014951.3 protein_coding 5/5 - - - 1112 1009 337 A/S Gcc/Tcc rs3758490,COSV67925197,COSV67926312 - 1 - EntrezGene HGNC:18194 ENST00000395254.8 - - - - RefSeq - G G - tolerated(0.07) benign(0.034) 0.4439 benign 0,1,1 1,1,1 21853134,16385451,27156515 - - - - - . 10:62399574-62399574 T intron_variant MODIFIER ZNF365 22891 Transcript NM_199450.3 protein_coding - 3/4 - - - - - - - rs3758490,COSV67925197,COSV67926312 - 1 - EntrezGene HGNC:18194 - - - - - RefSeq - G G - - - 0.4439 benign 0,1,1 1,1,1 21853134,16385451,27156515 - - - - - . 10:63153553-63153553 T stop_gained HIGH NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 342 199 67 Q/* Cag/Tag rs1439323425 - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:63153553-63153553 T stop_gained HIGH NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 338 169 57 Q/* Cag/Tag rs1439323425 - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:63153553-63153553 T stop_gained HIGH NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 257 169 57 Q/* Cag/Tag rs1439323425 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153553-63153553 T stop_gained HIGH NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 342 199 67 Q/* Cag/Tag rs1439323425 - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153553-63153553 T stop_gained HIGH NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 213 67 23 Q/* Cag/Tag rs1439323425 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153635-63153635 T missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 424 281 94 A/V gCa/gTa rs748268162 - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - C C - tolerated(0.64) benign(0.006) - - - - - - - - - - . 10:63153635-63153635 T missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 420 251 84 A/V gCa/gTa rs748268162 - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - C C - tolerated(0.67) benign(0.007) - - - - - - - - - - . 10:63153635-63153635 T missense_variant MODERATE NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 339 251 84 A/V gCa/gTa rs748268162 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - tolerated(0.67) benign(0.007) - - - - - - - - - - . 10:63153635-63153635 T missense_variant MODERATE NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 424 281 94 A/V gCa/gTa rs748268162 - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - C C - tolerated(0.64) benign(0.006) - - - - - - - - - - . 10:63153635-63153635 T missense_variant MODERATE NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 295 149 50 A/V gCa/gTa rs748268162 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153646-63153646 T missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 435 292 98 L/F Ctt/Ttt - - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - C C - tolerated(0.06) benign(0.324) - - - - - - - - - - . 10:63153646-63153646 T missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 431 262 88 L/F Ctt/Ttt - - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - C C - deleterious(0.05) probably_damaging(0.988) - - - - - - - - - - . 10:63153646-63153646 T missense_variant MODERATE NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 350 262 88 L/F Ctt/Ttt - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - deleterious(0.05) probably_damaging(0.988) - - - - - - - - - - . 10:63153646-63153646 T missense_variant MODERATE NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 435 292 98 L/F Ctt/Ttt - - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - C C - tolerated(0.06) benign(0.324) - - - - - - - - - - . 10:63153646-63153646 T missense_variant MODERATE NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 306 160 54 L/F Ctt/Ttt - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153652-63153652 G missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 441 298 100 T/A Aca/Gca rs1419660185 - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - A A - tolerated(1) benign(0) - - - - - - - - - - . 10:63153652-63153652 G missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 437 268 90 T/A Aca/Gca rs1419660185 - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - A A - tolerated(1) benign(0) - - - - - - - - - - . 10:63153652-63153652 G missense_variant MODERATE NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 356 268 90 T/A Aca/Gca rs1419660185 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - A A - tolerated(1) benign(0) - - - - - - - - - - . 10:63153652-63153652 G missense_variant MODERATE NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 441 298 100 T/A Aca/Gca rs1419660185 - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - A A - tolerated(1) benign(0) - - - - - - - - - - . 10:63153652-63153652 G missense_variant MODERATE NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 312 166 56 T/A Aca/Gca rs1419660185 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:63153671-63153671 T missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 460 317 106 A/V gCa/gTa rs1335219742 - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - C C - tolerated(0.08) benign(0.055) - - - - - - - - - - . 10:63153671-63153671 T missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 456 287 96 A/V gCa/gTa rs1335219742 - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - C C - tolerated(0.09) possibly_damaging(0.667) - - - - - - - - - - . 10:63153671-63153671 T missense_variant MODERATE NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 375 287 96 A/V gCa/gTa rs1335219742 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - tolerated(0.09) possibly_damaging(0.667) - - - - - - - - - - . 10:63153671-63153671 T missense_variant MODERATE NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 460 317 106 A/V gCa/gTa rs1335219742 - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - C C - tolerated(0.08) benign(0.055) - - - - - - - - - - . 10:63153671-63153671 T missense_variant MODERATE NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 331 185 62 A/V gCa/gTa rs1335219742 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153732-63153732 T synonymous_variant LOW NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 521 378 126 C tgC/tgT - - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:63153732-63153732 T synonymous_variant LOW NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 517 348 116 C tgC/tgT - - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:63153732-63153732 T synonymous_variant LOW NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 436 348 116 C tgC/tgT - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153732-63153732 T synonymous_variant LOW NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 521 378 126 C tgC/tgT - - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153732-63153732 T synonymous_variant LOW NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 392 246 82 C tgC/tgT - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153780-63153780 A synonymous_variant LOW NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 569 426 142 L ctT/ctA - - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:63153780-63153780 A synonymous_variant LOW NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 565 396 132 L ctT/ctA - - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:63153780-63153780 A synonymous_variant LOW NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 484 396 132 L ctT/ctA - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:63153780-63153780 A synonymous_variant LOW NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 569 426 142 L ctT/ctA - - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:63153780-63153780 A synonymous_variant LOW NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 440 294 98 L ctT/ctA - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:63153809-63153809 A missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 598 455 152 A/E gCa/gAa - - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - C C - tolerated(0.16) benign(0.051) - - - - - - - - - - . 10:63153809-63153809 A missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 594 425 142 A/E gCa/gAa - - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - C C - tolerated(0.55) benign(0.093) - - - - - - - - - - . 10:63153809-63153809 A missense_variant MODERATE NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 513 425 142 A/E gCa/gAa - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - tolerated(0.55) benign(0.093) - - - - - - - - - - . 10:63153809-63153809 A missense_variant MODERATE NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 598 455 152 A/E gCa/gAa - - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - C C - tolerated(0.16) benign(0.051) - - - - - - - - - - . 10:63153809-63153809 A missense_variant MODERATE NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 469 323 108 A/E gCa/gAa - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153828-63153828 T synonymous_variant LOW NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 617 474 158 S agC/agT rs1433245133 - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:63153828-63153828 T synonymous_variant LOW NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 613 444 148 S agC/agT rs1433245133 - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:63153828-63153828 T synonymous_variant LOW NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 532 444 148 S agC/agT rs1433245133 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153828-63153828 T synonymous_variant LOW NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 617 474 158 S agC/agT rs1433245133 - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153828-63153828 T synonymous_variant LOW NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 488 342 114 S agC/agT rs1433245133 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63153837-63153837 C synonymous_variant LOW NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 626 483 161 P ccA/ccC - - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:63153837-63153837 C synonymous_variant LOW NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 622 453 151 P ccA/ccC - - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:63153837-63153837 C synonymous_variant LOW NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 541 453 151 P ccA/ccC - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:63153837-63153837 C synonymous_variant LOW NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 626 483 161 P ccA/ccC - - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:63153837-63153837 C synonymous_variant LOW NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 497 351 117 P ccA/ccC - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:63153915-63153915 A synonymous_variant LOW NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 704 561 187 A gcT/gcA - - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:63153915-63153915 A synonymous_variant LOW NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 700 531 177 A gcT/gcA - - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:63153915-63153915 A synonymous_variant LOW NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 619 531 177 A gcT/gcA - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:63153915-63153915 A synonymous_variant LOW NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 704 561 187 A gcT/gcA - - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:63153915-63153915 A synonymous_variant LOW NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 575 429 143 A gcT/gcA - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:63153922-63153922 A missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 711 568 190 E/K Gaa/Aaa - - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - G G - tolerated(0.05) possibly_damaging(0.464) - - - - - - - - - - . 10:63153922-63153922 A missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 707 538 180 E/K Gaa/Aaa - - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - G G - deleterious(0.03) possibly_damaging(0.877) - - - - - - - - - - . 10:63153922-63153922 A missense_variant MODERATE NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 626 538 180 E/K Gaa/Aaa - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - G G - deleterious(0.03) possibly_damaging(0.877) - - - - - - - - - - . 10:63153922-63153922 A missense_variant MODERATE NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 711 568 190 E/K Gaa/Aaa - - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - G G - tolerated(0.05) possibly_damaging(0.464) - - - - - - - - - - . 10:63153922-63153922 A missense_variant MODERATE NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 582 436 146 E/K Gaa/Aaa - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:63153951-63153951 G synonymous_variant LOW NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 740 597 199 L ctA/ctG - - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:63153951-63153951 G synonymous_variant LOW NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 736 567 189 L ctA/ctG - - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:63153951-63153951 G synonymous_variant LOW NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 655 567 189 L ctA/ctG - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:63153951-63153951 G synonymous_variant LOW NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 740 597 199 L ctA/ctG - - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:63153951-63153951 G synonymous_variant LOW NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 611 465 155 L ctA/ctG - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:63154054-63154054 T missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 843 700 234 A/S Gca/Tca COSV105115840 - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - G G - tolerated(1) benign(0.001) - - 1 1 - - - - - - . 10:63154054-63154054 T missense_variant MODERATE NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 839 670 224 A/S Gca/Tca COSV105115840 - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - G G - tolerated(1) benign(0.003) - - 1 1 - - - - - - . 10:63154054-63154054 T missense_variant MODERATE NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 758 670 224 A/S Gca/Tca COSV105115840 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - G G - tolerated(1) benign(0.003) - - 1 1 - - - - - - . 10:63154054-63154054 T missense_variant MODERATE NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 843 700 234 A/S Gca/Tca COSV105115840 - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - G G - tolerated(1) benign(0.001) - - 1 1 - - - - - - . 10:63154054-63154054 T missense_variant MODERATE NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 714 568 190 A/S Gca/Tca COSV105115840 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - G G - - - - - 1 1 - - - - - - . 10:63154223-63154225 - 3_prime_UTR_variant MODIFIER NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 1014 - - - - - - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:63154223-63154225 - 3_prime_UTR_variant MODIFIER NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 1010 - - - - - - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:63154223-63154225 - 3_prime_UTR_variant MODIFIER NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 929 - - - - - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:63154223-63154225 - 3_prime_UTR_variant MODIFIER NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 1014 - - - - - - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:63154223-63154225 - 3_prime_UTR_variant MODIFIER NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 885 - - - - - - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:63154256-63154257 A 3_prime_UTR_variant MODIFIER NRBF2 ENSG00000148572 Transcript ENST00000277746.11 protein_coding 4/4 - - - 1046-1047 - - - - rs35751397,COSV53258339 - 1 - HGNC HGNC:19692 NM_030759.5 - 1 P1 - Ensembl - - - - - - 0.3910 - 0,1 1,1 35637384 - - - - - . 10:63154256-63154257 A 3_prime_UTR_variant MODIFIER NRBF2 ENSG00000148572 Transcript ENST00000435510.6 protein_coding 3/3 - - - 1042-1043 - - - - rs35751397,COSV53258339 - 1 - HGNC HGNC:19692 - - 2 - - Ensembl - - - - - - 0.3910 - 0,1 1,1 35637384 - - - - - . 10:63154256-63154257 A 3_prime_UTR_variant MODIFIER NRBF2 29982 Transcript NM_001282405.2 protein_coding 3/3 - - - 961-962 - - - - rs35751397,COSV53258339 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - - - - - - 0.3910 - 0,1 1,1 35637384 - - - - - . 10:63154256-63154257 A 3_prime_UTR_variant MODIFIER NRBF2 29982 Transcript NM_030759.5 protein_coding 4/4 - - - 1046-1047 - - - - rs35751397,COSV53258339 - 1 - EntrezGene HGNC:19692 ENST00000277746.11 - - - - RefSeq - - - - - - 0.3910 - 0,1 1,1 35637384 - - - - - . 10:63154256-63154257 A 3_prime_UTR_variant MODIFIER NRBF2 29982 Transcript XM_047425132.1 protein_coding 3/3 - - - 917-918 - - - - rs35751397,COSV53258339 - 1 - EntrezGene HGNC:19692 - - - - - RefSeq - - - - - - 0.3910 - 0,1 1,1 35637384 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C ENSG00000171988 Transcript ENST00000399262.7 protein_coding 26/26 - - - 7920 7605 2535 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - HGNC HGNC:12313 NM_032776.3 - 5 - - Ensembl - C C - tolerated(0.41) benign(0.059) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G non_coding_transcript_exon_variant MODIFIER JMJD1C ENSG00000171988 Transcript ENST00000402544.5 protein_coding_CDS_not_defined 22/22 - - - 7296 - - - - rs1935,CM168179,COSV67858085 - -1 - HGNC HGNC:12313 - - 1 - - Ensembl - C C - - - 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G non_coding_transcript_exon_variant MODIFIER JMJD1C ENSG00000171988 Transcript ENST00000467356.5 retained_intron 3/3 - - - 463 - - - - rs1935,CM168179,COSV67858085 - -1 - HGNC HGNC:12313 - - 1 - - Ensembl - C C - - - 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C ENSG00000171988 Transcript ENST00000542921.5 protein_coding 25/25 - - - 7676 7059 2353 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - HGNC HGNC:12313 - - 1 P1 - Ensembl - C C - tolerated(0.42) benign(0.059) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C 221037 Transcript NM_001282948.2 protein_coding 25/25 - - - 7853 7059 2353 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - C C - tolerated(0.42) benign(0.059) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C 221037 Transcript NM_001318153.2 protein_coding 25/25 - - - 7857 6741 2247 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - C C - tolerated(0.43) benign(0.059) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C 221037 Transcript NM_001318154.2 protein_coding 26/26 - - - 7590 7059 2353 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - C C - tolerated(0.42) benign(0.059) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C 221037 Transcript NM_001322252.2 protein_coding 25/25 - - - 7806 7491 2497 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - C C - tolerated(0.41) benign(0.041) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C 221037 Transcript NM_001322254.2 protein_coding 24/24 - - - 7747 6948 2316 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - C C - tolerated(0.43) benign(0.059) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C 221037 Transcript NM_001322258.2 protein_coding 25/25 - - - 7484 6948 2316 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - C C - tolerated(0.43) benign(0.059) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C 221037 Transcript NM_032776.3 protein_coding 26/26 - - - 7920 7605 2535 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 ENST00000399262.7 - - - - RefSeq - C C - tolerated(0.41) benign(0.059) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G non_coding_transcript_exon_variant MODIFIER JMJD1C 221037 Transcript NR_134512.2 misc_RNA 22/22 - - - 7352 - - - - rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - C C - - - 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C 221037 Transcript XM_017015897.2 protein_coding 25/25 - - - 7476 7059 2353 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - C C - tolerated(0.42) benign(0.059) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C 221037 Transcript XM_017015898.2 protein_coding 27/27 - - - 20905 7059 2353 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - C C - tolerated(0.42) benign(0.059) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C 221037 Transcript XM_047424772.1 protein_coding 27/27 - - - 7656 7059 2353 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - C C - tolerated(0.42) benign(0.059) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C 221037 Transcript XM_047424773.1 protein_coding 26/26 - - - 7542 7059 2353 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - C C - tolerated(0.42) benign(0.059) 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63168063-63168063 G missense_variant MODERATE JMJD1C 221037 Transcript XM_047424774.1 protein_coding 26/26 - - - 11291 7443 2481 E/D gaG/gaC rs1935,CM168179,COSV67858085 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - C C - - - 0.3922 benign 0,0,1 1,1,1 29303622,27532455,22423221,31194788,16385451,29902632,30504769,27346689,30778226,31666285,33972514,33187967,35552711,33414548,35710628,36696816,34321204 - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C ENSG00000171988 Transcript ENST00000327520.7 protein_coding 9/12 - - - 2429 2430 810 D gaC/gaT rs3211105,COSV100550168 - -1 cds_start_NF HGNC HGNC:12313 - - 2 - - Ensembl - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C ENSG00000171988 Transcript ENST00000399262.7 protein_coding 20/26 - - - 7104 6789 2263 D gaC/gaT rs3211105,COSV100550168 - -1 - HGNC HGNC:12313 NM_032776.3 - 5 - - Ensembl - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A non_coding_transcript_exon_variant MODIFIER JMJD1C ENSG00000171988 Transcript ENST00000402544.5 protein_coding_CDS_not_defined 16/22 - - - 6505 - - - - rs3211105,COSV100550168 - -1 - HGNC HGNC:12313 - - 1 - - Ensembl - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A downstream_gene_variant MODIFIER JMJD1C ENSG00000171988 Transcript ENST00000497922.1 protein_coding_CDS_not_defined - - - - - - - - - rs3211105,COSV100550168 3683 -1 - HGNC HGNC:12313 - - 3 - - Ensembl - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C ENSG00000171988 Transcript ENST00000542921.5 protein_coding 19/25 - - - 6860 6243 2081 D gaC/gaT rs3211105,COSV100550168 - -1 - HGNC HGNC:12313 - - 1 P1 - Ensembl - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C 221037 Transcript NM_001282948.2 protein_coding 19/25 - - - 7037 6243 2081 D gaC/gaT rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C 221037 Transcript NM_001318153.2 protein_coding 19/25 - - - 7041 5925 1975 D gaC/gaT rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C 221037 Transcript NM_001318154.2 protein_coding 20/26 - - - 6774 6243 2081 D gaC/gaT rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C 221037 Transcript NM_001322252.2 protein_coding 19/25 - - - 6990 6675 2225 D gaC/gaT rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C 221037 Transcript NM_001322254.2 protein_coding 18/24 - - - 6931 6132 2044 D gaC/gaT rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C 221037 Transcript NM_001322258.2 protein_coding 19/25 - - - 6668 6132 2044 D gaC/gaT rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C 221037 Transcript NM_032776.3 protein_coding 20/26 - - - 7104 6789 2263 D gaC/gaT rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 ENST00000399262.7 - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A non_coding_transcript_exon_variant MODIFIER JMJD1C 221037 Transcript NR_134512.2 misc_RNA 16/22 - - - 6561 - - - - rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C 221037 Transcript XM_017015897.2 protein_coding 19/25 - - - 6660 6243 2081 D gaC/gaT rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C 221037 Transcript XM_017015898.2 protein_coding 21/27 - - - 20089 6243 2081 D gaC/gaT rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C 221037 Transcript XM_047424772.1 protein_coding 21/27 - - - 6840 6243 2081 D gaC/gaT rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C 221037 Transcript XM_047424773.1 protein_coding 20/26 - - - 6726 6243 2081 D gaC/gaT rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63185604-63185604 A synonymous_variant LOW JMJD1C 221037 Transcript XM_047424774.1 protein_coding 20/26 - - - 10475 6627 2209 D gaC/gaT rs3211105,COSV100550168 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - G G - - - 0.5811 benign 0,1 1,1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C ENSG00000171988 Transcript ENST00000327520.7 protein_coding 1/12 - - - 41 42 14 R cgT/cgA rs1904294 - -1 cds_start_NF HGNC HGNC:12313 - - 2 - - Ensembl - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C ENSG00000171988 Transcript ENST00000399262.7 protein_coding 10/26 - - - 4299 3984 1328 R cgT/cgA rs1904294 - -1 - HGNC HGNC:12313 NM_032776.3 - 5 - - Ensembl - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T non_coding_transcript_exon_variant MODIFIER JMJD1C ENSG00000171988 Transcript ENST00000402544.5 protein_coding_CDS_not_defined 7/22 - - - 3956 - - - - rs1904294 - -1 - HGNC HGNC:12313 - - 1 - - Ensembl - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C ENSG00000171988 Transcript ENST00000542921.5 protein_coding 9/25 - - - 4055 3438 1146 R cgT/cgA rs1904294 - -1 - HGNC HGNC:12313 - - 1 P1 - Ensembl - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript NM_001282948.2 protein_coding 9/25 - - - 4232 3438 1146 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript NM_001318153.2 protein_coding 9/25 - - - 4236 3120 1040 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript NM_001318154.2 protein_coding 10/26 - - - 3969 3438 1146 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript NM_001322252.2 protein_coding 9/25 - - - 4185 3870 1290 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript NM_001322254.2 protein_coding 8/24 - - - 4126 3327 1109 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript NM_001322258.2 protein_coding 9/25 - - - 3863 3327 1109 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript NM_032776.3 protein_coding 10/26 - - - 4299 3984 1328 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 ENST00000399262.7 - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T non_coding_transcript_exon_variant MODIFIER JMJD1C 221037 Transcript NR_134512.2 misc_RNA 7/22 - - - 4012 - - - - rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript XM_011539508.3 protein_coding 11/12 - - - 4035 3438 1146 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript XM_017015897.2 protein_coding 9/25 - - - 3855 3438 1146 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript XM_017015898.2 protein_coding 11/27 - - - 17284 3438 1146 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript XM_047424772.1 protein_coding 11/27 - - - 4035 3438 1146 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript XM_047424773.1 protein_coding 10/26 - - - 3921 3438 1146 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript XM_047424774.1 protein_coding 10/26 - - - 7670 3822 1274 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T synonymous_variant LOW JMJD1C 221037 Transcript XM_047424775.1 protein_coding 11/18 - - - 4035 3438 1146 R cgT/cgA rs1904294 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.9868 benign - 1 - - - - - - . 10:63207685-63207685 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000405746 promoter - - - - - - - - - rs1904294 - - - - - - - - - - - - - - - - - 0.9868 benign - 1 - - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C ENSG00000171988 Transcript ENST00000399262.7 protein_coding 8/26 - - - 1705 1390 464 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - HGNC HGNC:12313 NM_032776.3 - 5 - - Ensembl - A A - tolerated_low_confidence(0.23) benign(0.038) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T non_coding_transcript_exon_variant MODIFIER JMJD1C ENSG00000171988 Transcript ENST00000402544.5 protein_coding_CDS_not_defined 5/22 - - - 1362 - - - - rs10761725,COSV67859327 - -1 - HGNC HGNC:12313 - - 1 - - Ensembl - A A - - - 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T downstream_gene_variant MODIFIER JMJD1C ENSG00000171988 Transcript ENST00000469152.5 protein_coding_CDS_not_defined - - - - - - - - - rs10761725,COSV67859327 647 -1 - HGNC HGNC:12313 - - 3 - - Ensembl - A A - - - 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T downstream_gene_variant MODIFIER JMJD1C ENSG00000171988 Transcript ENST00000489372.4 protein_coding_CDS_not_defined - - - - - - - - - rs10761725,COSV67859327 661 -1 - HGNC HGNC:12313 - - 5 - - Ensembl - A A - - - 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C ENSG00000171988 Transcript ENST00000542921.5 protein_coding 7/25 - - - 1461 844 282 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - HGNC HGNC:12313 - - 1 P1 - Ensembl - A A - tolerated(0.23) benign(0.038) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript NM_001282948.2 protein_coding 7/25 - - - 1638 844 282 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - tolerated(0.23) benign(0.038) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript NM_001318153.2 protein_coding 7/25 - - - 1642 526 176 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - tolerated(0.23) benign(0.038) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript NM_001318154.2 protein_coding 8/26 - - - 1375 844 282 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - tolerated(0.23) benign(0.038) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript NM_001322252.2 protein_coding 7/25 - - - 1591 1276 426 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - tolerated_low_confidence(0.24) benign(0.082) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript NM_001322254.2 protein_coding 6/24 - - - 1532 733 245 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - tolerated(0.24) benign(0.038) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript NM_001322258.2 protein_coding 7/25 - - - 1269 733 245 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - tolerated(0.24) benign(0.038) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript NM_032776.3 protein_coding 8/26 - - - 1705 1390 464 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 ENST00000399262.7 - - - - RefSeq - A A - tolerated_low_confidence(0.23) benign(0.038) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T non_coding_transcript_exon_variant MODIFIER JMJD1C 221037 Transcript NR_134512.2 misc_RNA 5/22 - - - 1418 - - - - rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript XM_011539508.3 protein_coding 9/12 - - - 1441 844 282 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript XM_017015897.2 protein_coding 7/25 - - - 1261 844 282 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - tolerated(0.23) benign(0.038) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript XM_017015898.2 protein_coding 9/27 - - - 14690 844 282 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - tolerated(0.23) benign(0.038) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript XM_047424772.1 protein_coding 9/27 - - - 1441 844 282 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - tolerated(0.23) benign(0.038) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript XM_047424773.1 protein_coding 8/26 - - - 1327 844 282 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - tolerated(0.23) benign(0.038) 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript XM_047424774.1 protein_coding 8/26 - - - 5076 1228 410 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T missense_variant MODERATE JMJD1C 221037 Transcript XM_047424775.1 protein_coding 9/18 - - - 1441 844 282 S/T Tcg/Acg rs10761725,COSV67859327 - -1 - EntrezGene HGNC:12313 - - - - - RefSeq - A A - - - 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63214777-63214777 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001179261 enhancer - - - - - - - - - rs10761725,COSV67859327 - - - - - - - - - - - - - - - - - 0.5114 benign 0,1 1,1 29303622,22354554,33729739 - - - - - . 10:63902507-63902507 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000444770.1 lncRNA - 2/2 - - - - - - - rs1311594582 - 1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:63902507-63902507 A non_coding_transcript_exon_variant MODIFIER RPL7AP50 ENSG00000213609 Transcript ENST00000452821.1 processed_pseudogene 1/1 - - - 739 - - - - rs1311594582 - -1 - HGNC HGNC:36117 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:63902507-63902507 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 1/5 - - - - - - - rs1311594582 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:63902507-63902507 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 1/6 - - - - - - - rs1311594582 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:63902507-63902507 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062159.1 lncRNA - 1/2 - - - - - - - rs1311594582 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:63902507-63902507 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 1/5 - - - - - - - rs1311594582 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:63902507-63902507 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 1/5 - - - - - - - rs1311594582 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:63902507-63902507 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062162.1 lncRNA - 1/2 - - - - - - - rs1311594582 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:63902507-63902507 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062164.1 lncRNA - 1/3 - - - - - - - rs1311594582 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:63902613-63902613 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000444770.1 lncRNA - 2/2 - - - - - - - - - 1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:63902613-63902613 C non_coding_transcript_exon_variant MODIFIER RPL7AP50 ENSG00000213609 Transcript ENST00000452821.1 processed_pseudogene 1/1 - - - 633 - - - - - - -1 - HGNC HGNC:36117 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:63902613-63902613 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 1/5 - - - - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:63902613-63902613 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 1/6 - - - - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:63902613-63902613 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062159.1 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:63902613-63902613 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 1/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:63902613-63902613 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 1/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:63902613-63902613 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062162.1 lncRNA - 1/2 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:63902613-63902613 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062164.1 lncRNA - 1/3 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:63902643-63902643 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000444770.1 lncRNA - 2/2 - - - - - - - rs1020043013 - 1 - - - - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:63902643-63902643 G non_coding_transcript_exon_variant MODIFIER RPL7AP50 ENSG00000213609 Transcript ENST00000452821.1 processed_pseudogene 1/1 - - - 603 - - - - rs1020043013 - -1 - HGNC HGNC:36117 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:63902643-63902643 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 1/5 - - - - - - - rs1020043013 - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:63902643-63902643 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 1/6 - - - - - - - rs1020043013 - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:63902643-63902643 G intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062159.1 lncRNA - 1/2 - - - - - - - rs1020043013 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63902643-63902643 G intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 1/5 - - - - - - - rs1020043013 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63902643-63902643 G intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 1/5 - - - - - - - rs1020043013 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63902643-63902643 G intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062162.1 lncRNA - 1/2 - - - - - - - rs1020043013 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:63902643-63902643 G intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062164.1 lncRNA - 1/3 - - - - - - - rs1020043013 - 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:64168997-64168997 G non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 1854 - - - - - - -1 - HGNC HGNC:45059 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:64168997-64168997 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:64168997-64168997 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:64168997-64168997 G intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:64168997-64168997 G intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:64169065-64169065 C non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 1786 - - - - rs10740151 - -1 - HGNC HGNC:45059 - - - - - Ensembl - T T - - - 0.9974 - - - - - - - - - . 10:64169065-64169065 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - rs10740151 - 1 - - - - - - - - Ensembl - T T - - - 0.9974 - - - - - - - - - . 10:64169065-64169065 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - rs10740151 - 1 - - - - - - - - Ensembl - T T - - - 0.9974 - - - - - - - - - . 10:64169065-64169065 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - rs10740151 - 1 - EntrezGene - - - - - - RefSeq - T T - - - 0.9974 - - - - - - - - - . 10:64169065-64169065 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - rs10740151 - 1 - EntrezGene - - - - - - RefSeq - T T - - - 0.9974 - - - - - - - - - . 10:64169068-64169068 G non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 1783 - - - - - - -1 - HGNC HGNC:45059 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:64169068-64169068 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:64169068-64169068 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:64169068-64169068 G intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:64169068-64169068 G intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:64169123-64169123 A non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 1728 - - - - rs112931906 - -1 - HGNC HGNC:45059 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:64169123-64169123 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - rs112931906 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:64169123-64169123 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - rs112931906 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:64169123-64169123 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - rs112931906 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:64169123-64169123 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - rs112931906 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:64169143-64169143 A non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 1708 - - - - rs112764696 - -1 - HGNC HGNC:45059 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64169143-64169143 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - rs112764696 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64169143-64169143 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - rs112764696 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64169143-64169143 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - rs112764696 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64169143-64169143 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - rs112764696 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64169228-64169228 C non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 1623 - - - - - - -1 - HGNC HGNC:45059 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64169228-64169228 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64169228-64169228 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64169228-64169228 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64169228-64169228 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64169238-64169238 T non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 1613 - - - - - - -1 - HGNC HGNC:45059 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:64169238-64169238 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:64169238-64169238 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:64169238-64169238 T intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:64169238-64169238 T intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:64169292-64169292 A non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 1559 - - - - - - -1 - HGNC HGNC:45059 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64169292-64169292 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64169292-64169292 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64169292-64169292 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64169292-64169292 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64169326-64169326 G non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 1525 - - - - - - -1 - HGNC HGNC:45059 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64169326-64169326 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64169326-64169326 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64169326-64169326 G intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64169326-64169326 G intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64169327-64169327 A non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 1524 - - - - rs1283911725 - -1 - HGNC HGNC:45059 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:64169327-64169327 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - rs1283911725 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:64169327-64169327 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - rs1283911725 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:64169327-64169327 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - rs1283911725 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:64169327-64169327 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - rs1283911725 - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:64169451-64169451 T non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 1400 - - - - - - -1 - HGNC HGNC:45059 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:64169451-64169451 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - - - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:64169451-64169451 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - - - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:64169451-64169451 T intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:64169451-64169451 T intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - - - 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:64169784-64169784 T non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 1067 - - - - rs7893379 - -1 - HGNC HGNC:45059 - - - - - Ensembl - C C - - - 0.2660 - - - 31525256 - - - - - . 10:64169784-64169784 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - rs7893379 - 1 - - - - - - - - Ensembl - C C - - - 0.2660 - - - 31525256 - - - - - . 10:64169784-64169784 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - rs7893379 - 1 - - - - - - - - Ensembl - C C - - - 0.2660 - - - 31525256 - - - - - . 10:64169784-64169784 T intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - rs7893379 - 1 - EntrezGene - - - - - - RefSeq - C C - - - 0.2660 - - - 31525256 - - - - - . 10:64169784-64169784 T intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - rs7893379 - 1 - EntrezGene - - - - - - RefSeq - C C - - - 0.2660 - - - 31525256 - - - - - . 10:64170517-64170517 A non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 334 - - - - rs576892711 - -1 - HGNC HGNC:45059 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64170517-64170517 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - rs576892711 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64170517-64170517 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - rs576892711 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64170517-64170517 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - rs576892711 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64170517-64170517 A intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - rs576892711 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64170581-64170581 C non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 270 - - - - rs1247468440 - -1 - HGNC HGNC:45059 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64170581-64170581 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - rs1247468440 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64170581-64170581 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - rs1247468440 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64170581-64170581 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - rs1247468440 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64170581-64170581 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - rs1247468440 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64170723-64170723 C non_coding_transcript_exon_variant MODIFIER DBF4P1 ENSG00000235489 Transcript ENST00000412976.1 processed_pseudogene 1/1 - - - 128 - - - - rs1386427486 - -1 - HGNC HGNC:45059 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64170723-64170723 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000654191.1 lncRNA - 3/5 - - - - - - - rs1386427486 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64170723-64170723 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000228566 Transcript ENST00000660795.1 lncRNA - 3/6 - - - - - - - rs1386427486 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:64170723-64170723 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062160.1 lncRNA - 3/5 - - - - - - - rs1386427486 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:64170723-64170723 C intron_variant,non_coding_transcript_variant MODIFIER LOC124902439 124902439 Transcript XR_007062161.1 lncRNA - 3/5 - - - - - - - rs1386427486 - 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:66280567-66280567 T missense_variant MODERATE CTNNA3 ENSG00000183230 Transcript ENST00000433211.7 protein_coding 13/18 - - - 1988 1787 596 S/N aGc/aAc rs4548513,CM074765,COSV65590069 - -1 - HGNC HGNC:2511 NM_013266.4 - 1 P1 - Ensembl - C C - tolerated_low_confidence(1) benign(0) 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T missense_variant MODERATE CTNNA3 ENSG00000183230 Transcript ENST00000682758.1 protein_coding 14/19 - - - 1989 1787 596 S/N aGc/aAc rs4548513,CM074765,COSV65590069 - -1 - HGNC HGNC:2511 - - - P1 - Ensembl - C C - tolerated_low_confidence(1) benign(0) 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T missense_variant MODERATE CTNNA3 ENSG00000183230 Transcript ENST00000682945.1 protein_coding 13/18 - - - 1780 1586 529 S/N aGc/aAc rs4548513,CM074765,COSV65590069 - -1 - HGNC HGNC:2511 - - - - - Ensembl - C C - tolerated(1) benign(0.006) 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER CTNNA3 ENSG00000183230 Transcript ENST00000683624.1 nonsense_mediated_decay 11/15 - - - 1488 - - - - rs4548513,CM074765,COSV65590069 - -1 - HGNC HGNC:2511 - - - - - Ensembl - C C - - - 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER CTNNA3 ENSG00000183230 Transcript ENST00000683963.1 nonsense_mediated_decay 12/17 - - - 1743 - - - - rs4548513,CM074765,COSV65590069 - -1 - HGNC HGNC:2511 - - - - - Ensembl - C C - - - 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T missense_variant MODERATE CTNNA3 ENSG00000183230 Transcript ENST00000684154.1 protein_coding 13/18 - - - 1992 1787 596 S/N aGc/aAc rs4548513,CM074765,COSV65590069 - -1 - HGNC HGNC:2511 - - - P1 - Ensembl - C C - tolerated_low_confidence(1) benign(0) 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T missense_variant MODERATE CTNNA3 29119 Transcript NM_001127384.3 protein_coding 13/18 - - - 1912 1787 596 S/N aGc/aAc rs4548513,CM074765,COSV65590069 - -1 - EntrezGene HGNC:2511 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0) 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T missense_variant MODERATE CTNNA3 29119 Transcript NM_013266.4 protein_coding 13/18 - - - 1988 1787 596 S/N aGc/aAc rs4548513,CM074765,COSV65590069 - -1 - EntrezGene HGNC:2511 ENST00000433211.7 - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0) 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T missense_variant MODERATE CTNNA3 29119 Transcript XM_017016151.2 protein_coding 14/19 - - - 1981 1856 619 S/N aGc/aAc rs4548513,CM074765,COSV65590069 - -1 - EntrezGene HGNC:2511 - - - - - RefSeq - C C - - - 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T missense_variant MODERATE CTNNA3 29119 Transcript XM_017016152.2 protein_coding 16/21 - - - 2254 2012 671 S/N aGc/aAc rs4548513,CM074765,COSV65590069 - -1 - EntrezGene HGNC:2511 - - - - - RefSeq - C C - - - 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T missense_variant MODERATE CTNNA3 29119 Transcript XM_017016155.3 protein_coding 9/14 - - - 1367 1004 335 S/N aGc/aAc rs4548513,CM074765,COSV65590069 - -1 - EntrezGene HGNC:2511 - - - - - RefSeq - C C - - - 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T missense_variant MODERATE CTNNA3 29119 Transcript XM_017016156.2 protein_coding 9/14 - - - 1304 1004 335 S/N aGc/aAc rs4548513,CM074765,COSV65590069 - -1 - EntrezGene HGNC:2511 - - - - - RefSeq - C C - - - 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T missense_variant MODERATE CTNNA3 29119 Transcript XM_017016157.3 protein_coding 7/12 - - - 1395 692 231 S/N aGc/aAc rs4548513,CM074765,COSV65590069 - -1 - EntrezGene HGNC:2511 - - - - - RefSeq - C C - - - 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:66280567-66280567 T missense_variant MODERATE CTNNA3 29119 Transcript XM_047425124.1 protein_coding 14/19 - - - 2030 1823 608 S/N aGc/aAc rs4548513,CM074765,COSV65590069 - -1 - EntrezGene HGNC:2511 - - - - - RefSeq - C C - - - 0.4850 benign 0,0,1 1,1,1 16385451,31397093,25050139,17209133,15533819,15039120,30104866,32545847,33729739,30510423,34336000 - - - - - . 10:67750491-67750491 T non_coding_transcript_exon_variant MODIFIER AKR1B10P1 ENSG00000213606 Transcript ENST00000425765.1 processed_pseudogene 1/1 - - - 208 - - - - rs72472101 - 1 - HGNC HGNC:45062 - - - - - Ensembl - C C - - - 0.1242 - - - - - - - - - . 10:67750491-67750491 T intron_variant MODIFIER CTNNA3 ENSG00000183230 Transcript ENST00000684154.1 protein_coding - 1/17 - - - - - - - rs72472101 - -1 - HGNC HGNC:2511 - - - P1 - Ensembl - C C - - - 0.1242 - - - - - - - - - . 10:67750491-67750491 T intron_variant MODIFIER CTNNA3 29119 Transcript XM_047425124.1 protein_coding - 1/18 - - - - - - - rs72472101 - -1 - EntrezGene HGNC:2511 - - - - - RefSeq - C C - - - 0.1242 - - - - - - - - - . 10:67751147-67751147 T non_coding_transcript_exon_variant MODIFIER AKR1B10P1 ENSG00000213606 Transcript ENST00000425765.1 processed_pseudogene 1/1 - - - 864 - - - - rs10997795 - 1 - HGNC HGNC:45062 - - - - - Ensembl - C C - - - 0.2716 - - - 16385451 - - - - - . 10:67751147-67751147 T intron_variant MODIFIER CTNNA3 ENSG00000183230 Transcript ENST00000684154.1 protein_coding - 1/17 - - - - - - - rs10997795 - -1 - HGNC HGNC:2511 - - - P1 - Ensembl - C C - - - 0.2716 - - - 16385451 - - - - - . 10:67751147-67751147 T intron_variant MODIFIER CTNNA3 29119 Transcript XM_047425124.1 protein_coding - 1/18 - - - - - - - rs10997795 - -1 - EntrezGene HGNC:2511 - - - - - RefSeq - C C - - - 0.2716 - - - 16385451 - - - - - . 10:67811578-67811578 A synonymous_variant LOW DNAJC12 ENSG00000108176 Transcript ENST00000225171.7 protein_coding 3/5 - - - 420 243 81 S agC/agT rs3740049,COSV56549236 - -1 - HGNC HGNC:28908 NM_021800.3 - 1 P1 - Ensembl - G G - - - 0.1384 benign 0,1 1,1 32888494 - - - - - . 10:67811578-67811578 A synonymous_variant LOW DNAJC12 ENSG00000108176 Transcript ENST00000339758.7 protein_coding 3/3 - - - 328 243 81 S agC/agT rs3740049,COSV56549236 - -1 - HGNC HGNC:28908 - - 1 - - Ensembl - G G - - - 0.1384 benign 0,1 1,1 32888494 - - - - - . 10:67811578-67811578 A downstream_gene_variant MODIFIER RNU6-1250P ENSG00000212520 Transcript ENST00000391218.1 snRNA - - - - - - - - - rs3740049,COSV56549236 2970 1 - HGNC HGNC:48213 - - - - - Ensembl - G G - - - 0.1384 benign 0,1 1,1 32888494 - - - - - . 10:67811578-67811578 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DNAJC12 ENSG00000108176 Transcript ENST00000480180.1 nonsense_mediated_decay 4/4 - - - 540 - - - - rs3740049,COSV56549236 - -1 - HGNC HGNC:28908 - - 3 - - Ensembl - G G - - - 0.1384 benign 0,1 1,1 32888494 - - - - - . 10:67811578-67811578 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DNAJC12 ENSG00000108176 Transcript ENST00000480963.5 nonsense_mediated_decay 4/5 - - - 389 - - - - rs3740049,COSV56549236 - -1 - HGNC HGNC:28908 - - 2 - - Ensembl - G G - - - 0.1384 benign 0,1 1,1 32888494 - - - - - . 10:67811578-67811578 A synonymous_variant LOW DNAJC12 ENSG00000108176 Transcript ENST00000483798.6 protein_coding 4/6 - - - 381 333 111 S agC/agT rs3740049,COSV56549236 - -1 - HGNC HGNC:28908 - - 3 - - Ensembl - G G - - - 0.1384 benign 0,1 1,1 32888494 - - - - - . 10:67811578-67811578 A synonymous_variant LOW DNAJC12 56521 Transcript NM_021800.3 protein_coding 3/5 - - - 420 243 81 S agC/agT rs3740049,COSV56549236 - -1 - EntrezGene HGNC:28908 ENST00000225171.7 - - - - RefSeq - G G - - - 0.1384 benign 0,1 1,1 32888494 - - - - - . 10:67811578-67811578 A synonymous_variant LOW DNAJC12 56521 Transcript NM_201262.2 protein_coding 3/3 - - - 420 243 81 S agC/agT rs3740049,COSV56549236 - -1 - EntrezGene HGNC:28908 - - - - - RefSeq - G G - - - 0.1384 benign 0,1 1,1 32888494 - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 ENSG00000148634 Transcript ENST00000277817.10 protein_coding - 4/22 - - - - - - - COSV53272876 - -1 - HGNC HGNC:24521 - - 1 - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 ENSG00000148634 Transcript ENST00000373700.9 protein_coding - 7/24 - - - - - - - COSV53272876 - -1 - HGNC HGNC:24521 NM_015601.4 - 1 P4 - Ensembl - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 ENSG00000148634 Transcript ENST00000395198.7 protein_coding - 7/25 - - - - - - - COSV53272876 - -1 - HGNC HGNC:24521 - - 1 A1 - Ensembl - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 ENSG00000148634 Transcript ENST00000412272.6 protein_coding - 7/23 - - - - - - - COSV53272876 - -1 - HGNC HGNC:24521 - - 1 - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW HERC4 ENSG00000148634 Transcript ENST00000427635.6 nonsense_mediated_decay - 5/24 - - - - - - - COSV53272876 - -1 cds_start_NF HGNC HGNC:24521 - - 2 - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW HERC4 ENSG00000148634 Transcript ENST00000473533.6 nonsense_mediated_decay - 5/22 - - - - - - - COSV53272876 - -1 - HGNC HGNC:24521 - - 1 - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript NM_001278185.2 protein_coding - 7/23 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript NM_001278186.2 protein_coding - 5/22 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript NM_015601.4 protein_coding - 7/24 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 ENST00000373700.9 - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript NM_022079.3 protein_coding - 7/25 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_011539592.4 protein_coding - 8/26 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_011539593.4 protein_coding - 8/25 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_011539597.4 protein_coding - 8/24 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_017016041.3 protein_coding - 7/23 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_024447927.2 protein_coding - 8/26 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_024447928.2 protein_coding - 8/26 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_024447930.2 protein_coding - 7/25 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_047424990.1 protein_coding - 6/24 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_047424991.1 protein_coding - 7/25 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_047424992.1 protein_coding - 7/24 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_047424993.1 protein_coding - 7/24 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_047424995.1 protein_coding - 7/25 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_047424996.1 protein_coding - 6/24 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_047424997.1 protein_coding - 6/23 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_047424998.1 protein_coding - 8/23 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_047424999.1 protein_coding - 7/22 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_047425000.1 protein_coding - 7/22 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_047425001.1 protein_coding - 4/22 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68025678-68025685 A splice_polypyrimidine_tract_variant,intron_variant LOW HERC4 26091 Transcript XM_047425002.1 protein_coding - 8/16 - - - - - - - COSV53272876 - -1 - EntrezGene HGNC:24521 - - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000354393.7 protein_coding - 5/19 - - - - - - - rs2200897,COSV62731683 - 1 - HGNC HGNC:23246 - - 1 - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000358913.10 protein_coding - 5/19 - - - - - - - rs2200897,COSV62731683 - 1 - HGNC HGNC:23246 NM_032578.4 - 1 P1 - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000373675.4 protein_coding - 5/9 - - - - - - - rs2200897,COSV62731683 - 1 - HGNC HGNC:23246 - - 2 - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000540630.6 protein_coding - 5/19 - - - - - - - rs2200897,COSV62731683 - 1 - HGNC HGNC:23246 - - 1 - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000613327.5 protein_coding - 6/20 - - - - - - - rs2200897,COSV62731683 - 1 - HGNC HGNC:23246 - - 1 P1 - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000685006.1 protein_coding - 6/7 - - - - - - - rs2200897,COSV62731683 - 1 cds_end_NF HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant,non_coding_transcript_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000685060.1 protein_coding_CDS_not_defined - 5/6 - - - - - - - rs2200897,COSV62731683 - 1 - HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000685154.1 protein_coding - 5/6 - - - - - - - rs2200897,COSV62731683 - 1 cds_end_NF HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A downstream_gene_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000685627.1 nonsense_mediated_decay - - - - - - - - - rs2200897,COSV62731683 2958 1 - HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant,non_coding_transcript_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000686289.1 retained_intron - 4/6 - - - - - - - rs2200897,COSV62731683 - 1 - HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000687572.1 protein_coding - 4/8 - - - - - - - rs2200897,COSV62731683 - 1 cds_end_NF HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant,NMD_transcript_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000687705.1 nonsense_mediated_decay - 7/11 - - - - - - - rs2200897,COSV62731683 - 1 - HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant,NMD_transcript_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000688812.1 nonsense_mediated_decay - 5/17 - - - - - - - rs2200897,COSV62731683 - 1 - HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant,non_coding_transcript_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000689218.1 retained_intron - 5/7 - - - - - - - rs2200897,COSV62731683 - 1 - HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000689484.1 protein_coding - 5/6 - - - - - - - rs2200897,COSV62731683 - 1 cds_end_NF HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000689797.1 protein_coding - 4/5 - - - - - - - rs2200897,COSV62731683 - 1 cds_end_NF HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant,NMD_transcript_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000690544.1 nonsense_mediated_decay - 9/23 - - - - - - - rs2200897,COSV62731683 - 1 - HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant,non_coding_transcript_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000692953.1 protein_coding_CDS_not_defined - 4/5 - - - - - - - rs2200897,COSV62731683 - 1 - HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000692979.1 protein_coding - 5/6 - - - - - - - rs2200897,COSV62731683 - 1 cds_end_NF HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant,NMD_transcript_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000693699.1 nonsense_mediated_decay - 2/4 - - - - - - - rs2200897,COSV62731683 - 1 cds_start_NF HGNC HGNC:23246 - - - - - Ensembl - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN 84665 Transcript NM_001256267.2 protein_coding - 6/20 - - - - - - - rs2200897,COSV62731683 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN 84665 Transcript NM_001256268.2 protein_coding - 9/23 - - - - - - - rs2200897,COSV62731683 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN 84665 Transcript NM_032578.4 protein_coding - 5/19 - - - - - - - rs2200897,COSV62731683 - 1 - EntrezGene HGNC:23246 ENST00000358913.10 - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant,non_coding_transcript_variant MODIFIER MYPN 84665 Transcript NR_045662.4 misc_RNA - 5/19 - - - - - - - rs2200897,COSV62731683 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant,non_coding_transcript_variant MODIFIER MYPN 84665 Transcript NR_045663.4 misc_RNA - 5/17 - - - - - - - rs2200897,COSV62731683 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN 84665 Transcript XM_017016833.2 protein_coding - 6/20 - - - - - - - rs2200897,COSV62731683 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN 84665 Transcript XM_017016834.3 protein_coding - 5/19 - - - - - - - rs2200897,COSV62731683 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN 84665 Transcript XM_047425876.1 protein_coding - 5/19 - - - - - - - rs2200897,COSV62731683 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN 84665 Transcript XM_047425877.1 protein_coding - 4/18 - - - - - - - rs2200897,COSV62731683 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN 84665 Transcript XM_047425878.1 protein_coding - 4/18 - - - - - - - rs2200897,COSV62731683 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN 84665 Transcript XM_047425879.1 protein_coding - 5/19 - - - - - - - rs2200897,COSV62731683 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant MODIFIER MYPN 84665 Transcript XM_047425880.1 protein_coding - 1/15 - - - - - - - rs2200897,COSV62731683 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A intron_variant,non_coding_transcript_variant MODIFIER LOC107984240 107984240 Transcript XR_001747479.2 lncRNA - 2/2 - - - - - - - rs2200897,COSV62731683 - -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68148484-68148484 A non_coding_transcript_exon_variant MODIFIER LOC107984240 107984240 Transcript XR_001747480.2 lncRNA 3/3 - - - 388 - - - - rs2200897,COSV62731683 - -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.1216 benign 0,1 1,1 - - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000354393.7 protein_coding - 12/19 - - - - - - - rs6480306 - 1 - HGNC HGNC:23246 - - 1 - - Ensembl - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000358913.10 protein_coding - 12/19 - - - - - - - rs6480306 - 1 - HGNC HGNC:23246 NM_032578.4 - 1 P1 - Ensembl - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000540630.6 protein_coding - 12/19 - - - - - - - rs6480306 - 1 - HGNC HGNC:23246 - - 1 - - Ensembl - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000613327.5 protein_coding - 13/20 - - - - - - - rs6480306 - 1 - HGNC HGNC:23246 - - 1 P1 - Ensembl - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant,NMD_transcript_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000688812.1 nonsense_mediated_decay - 10/17 - - - - - - - rs6480306 - 1 - HGNC HGNC:23246 - - - - - Ensembl - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant,NMD_transcript_variant MODIFIER MYPN ENSG00000138347 Transcript ENST00000690544.1 nonsense_mediated_decay - 16/23 - - - - - - - rs6480306 - 1 - HGNC HGNC:23246 - - - - - Ensembl - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN 84665 Transcript NM_001256267.2 protein_coding - 13/20 - - - - - - - rs6480306 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN 84665 Transcript NM_001256268.2 protein_coding - 16/23 - - - - - - - rs6480306 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN 84665 Transcript NM_032578.4 protein_coding - 12/19 - - - - - - - rs6480306 - 1 - EntrezGene HGNC:23246 ENST00000358913.10 - - - - RefSeq - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant,non_coding_transcript_variant MODIFIER MYPN 84665 Transcript NR_045662.4 misc_RNA - 12/19 - - - - - - - rs6480306 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant,non_coding_transcript_variant MODIFIER MYPN 84665 Transcript NR_045663.4 misc_RNA - 10/17 - - - - - - - rs6480306 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN 84665 Transcript XM_017016833.2 protein_coding - 13/20 - - - - - - - rs6480306 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN 84665 Transcript XM_017016834.3 protein_coding - 12/19 - - - - - - - rs6480306 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN 84665 Transcript XM_047425876.1 protein_coding - 12/19 - - - - - - - rs6480306 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN 84665 Transcript XM_047425877.1 protein_coding - 11/18 - - - - - - - rs6480306 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN 84665 Transcript XM_047425878.1 protein_coding - 11/18 - - - - - - - rs6480306 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN 84665 Transcript XM_047425879.1 protein_coding - 12/19 - - - - - - - rs6480306 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68175478-68175478 C intron_variant MODIFIER MYPN 84665 Transcript XM_047425880.1 protein_coding - 8/15 - - - - - - - rs6480306 - 1 - EntrezGene HGNC:23246 - - - - - RefSeq - T T - - - 0.9824 benign - 1 25599974 - - - - - . 10:68284159-68284159 A downstream_gene_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000277795.8 retained_intron - - - - - - - - - rs736535,COSV53266057 2868 -1 - HGNC HGNC:23301 - - 4 - - Ensembl - G G - - - 0.2981 - 0,1 1,1 16385451,32778093 - - - - - . 10:68284159-68284159 A 3_prime_UTR_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000309049.8 protein_coding 10/10 - - - 1070 - - - - rs736535,COSV53266057 - -1 - HGNC HGNC:23301 - - 1 P1 - Ensembl - G G - - - 0.2981 - 0,1 1,1 16385451,32778093 - - - - - . 10:68284159-68284159 A 3_prime_UTR_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000336578.5 protein_coding 8/8 - - - 950 - - - - rs736535,COSV53266057 - -1 - HGNC HGNC:23301 - - 1 - - Ensembl - G G - - - 0.2981 - 0,1 1,1 16385451,32778093 - - - - - . 10:68284159-68284159 A 3_prime_UTR_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000358769.7 protein_coding 10/10 - - - 1089 - - - - rs736535,COSV53266057 - -1 - HGNC HGNC:23301 NM_022129.4 - 5 P1 - Ensembl - G G - - - 0.2981 - 0,1 1,1 16385451,32778093 - - - - - . 10:68284159-68284159 A intron_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000468798.5 protein_coding - 2/2 - - - - - - - rs736535,COSV53266057 - -1 cds_start_NF HGNC HGNC:23301 - - 3 - - Ensembl - G G - - - 0.2981 - 0,1 1,1 16385451,32778093 - - - - - . 10:68284159-68284159 A downstream_gene_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000495025.2 protein_coding - - - - - - - - - rs736535,COSV53266057 922 -1 - HGNC HGNC:23301 - - 5 - - Ensembl - G G - - - 0.2981 - 0,1 1,1 16385451,32778093 - - - - - . 10:68284159-68284159 A downstream_gene_variant MODIFIER PBLD 64081 Transcript NM_001033083.2 protein_coding - - - - - - - - - rs736535,COSV53266057 922 -1 - EntrezGene HGNC:23301 - - - - - RefSeq - G G - - - 0.2981 - 0,1 1,1 16385451,32778093 - - - - - . 10:68284159-68284159 A 3_prime_UTR_variant MODIFIER PBLD 64081 Transcript NM_022129.4 protein_coding 10/10 - - - 1089 - - - - rs736535,COSV53266057 - -1 - EntrezGene HGNC:23301 ENST00000358769.7 - - - - RefSeq - G G - - - 0.2981 - 0,1 1,1 16385451,32778093 - - - - - . 10:68284159-68284159 A 3_prime_UTR_variant MODIFIER PBLD 64081 Transcript XM_005270028.5 protein_coding 10/10 - - - 1092 - - - - rs736535,COSV53266057 - -1 - EntrezGene HGNC:23301 - - - - - RefSeq - G G - - - 0.2981 - 0,1 1,1 16385451,32778093 - - - - - . 10:68284159-68284159 A 3_prime_UTR_variant MODIFIER PBLD 64081 Transcript XM_011540060.4 protein_coding 10/10 - - - 1067 - - - - rs736535,COSV53266057 - -1 - EntrezGene HGNC:23301 - - - - - RefSeq - G G - - - 0.2981 - 0,1 1,1 16385451,32778093 - - - - - . 10:68284159-68284159 A 3_prime_UTR_variant MODIFIER PBLD 64081 Transcript XM_017016513.2 protein_coding 10/10 - - - 1064 - - - - rs736535,COSV53266057 - -1 - EntrezGene HGNC:23301 - - - - - RefSeq - G G - - - 0.2981 - 0,1 1,1 16385451,32778093 - - - - - . 10:68284159-68284159 A downstream_gene_variant MODIFIER PBLD 64081 Transcript XM_017016514.2 protein_coding - - - - - - - - - rs736535,COSV53266057 4772 -1 - EntrezGene HGNC:23301 - - - - - RefSeq - G G - - - 0.2981 - 0,1 1,1 16385451,32778093 - - - - - . 10:68284274-68284274 C downstream_gene_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000277795.8 retained_intron - - - - - - - - - rs4142048,COSV53266062 2753 -1 - HGNC HGNC:23301 - - 4 - - Ensembl - T T - - - 0.2993 - 0,1 0,1 - - - - - - . 10:68284274-68284274 C missense_variant MODERATE PBLD ENSG00000108187 Transcript ENST00000309049.8 protein_coding 10/10 - - - 955 770 257 H/R cAc/cGc rs4142048,COSV53266062 - -1 - HGNC HGNC:23301 - - 1 P1 - Ensembl - T T - tolerated(0.82) benign(0) 0.2993 - 0,1 0,1 - - - - - - . 10:68284274-68284274 C missense_variant MODERATE PBLD ENSG00000108187 Transcript ENST00000336578.5 protein_coding 8/8 - - - 835 671 224 H/R cAc/cGc rs4142048,COSV53266062 - -1 - HGNC HGNC:23301 - - 1 - - Ensembl - T T - tolerated(0.81) benign(0) 0.2993 - 0,1 0,1 - - - - - - . 10:68284274-68284274 C missense_variant MODERATE PBLD ENSG00000108187 Transcript ENST00000358769.7 protein_coding 10/10 - - - 974 770 257 H/R cAc/cGc rs4142048,COSV53266062 - -1 - HGNC HGNC:23301 NM_022129.4 - 5 P1 - Ensembl - T T - tolerated(0.82) benign(0) 0.2993 - 0,1 0,1 - - - - - - . 10:68284274-68284274 C intron_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000468798.5 protein_coding - 2/2 - - - - - - - rs4142048,COSV53266062 - -1 cds_start_NF HGNC HGNC:23301 - - 3 - - Ensembl - T T - - - 0.2993 - 0,1 0,1 - - - - - - . 10:68284274-68284274 C downstream_gene_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000495025.2 protein_coding - - - - - - - - - rs4142048,COSV53266062 807 -1 - HGNC HGNC:23301 - - 5 - - Ensembl - T T - - - 0.2993 - 0,1 0,1 - - - - - - . 10:68284274-68284274 C downstream_gene_variant MODIFIER PBLD 64081 Transcript NM_001033083.2 protein_coding - - - - - - - - - rs4142048,COSV53266062 807 -1 - EntrezGene HGNC:23301 - - - - - RefSeq - T T - - - 0.2993 - 0,1 0,1 - - - - - - . 10:68284274-68284274 C missense_variant MODERATE PBLD 64081 Transcript NM_022129.4 protein_coding 10/10 - - - 974 770 257 H/R cAc/cGc rs4142048,COSV53266062 - -1 - EntrezGene HGNC:23301 ENST00000358769.7 - - - - RefSeq - T T - tolerated(0.82) benign(0) 0.2993 - 0,1 0,1 - - - - - - . 10:68284274-68284274 C missense_variant MODERATE PBLD 64081 Transcript XM_005270028.5 protein_coding 10/10 - - - 977 770 257 H/R cAc/cGc rs4142048,COSV53266062 - -1 - EntrezGene HGNC:23301 - - - - - RefSeq - T T - tolerated(0.82) benign(0) 0.2993 - 0,1 0,1 - - - - - - . 10:68284274-68284274 C missense_variant MODERATE PBLD 64081 Transcript XM_011540060.4 protein_coding 10/10 - - - 952 745 249 T/A Acc/Gcc rs4142048,COSV53266062 - -1 - EntrezGene HGNC:23301 - - - - - RefSeq - T T - - - 0.2993 - 0,1 0,1 - - - - - - . 10:68284274-68284274 C missense_variant MODERATE PBLD 64081 Transcript XM_017016513.2 protein_coding 10/10 - - - 949 745 249 T/A Acc/Gcc rs4142048,COSV53266062 - -1 - EntrezGene HGNC:23301 - - - - - RefSeq - T T - - - 0.2993 - 0,1 0,1 - - - - - - . 10:68284274-68284274 C downstream_gene_variant MODIFIER PBLD 64081 Transcript XM_017016514.2 protein_coding - - - - - - - - - rs4142048,COSV53266062 4657 -1 - EntrezGene HGNC:23301 - - - - - RefSeq - T T - - - 0.2993 - 0,1 0,1 - - - - - - . 10:68284274-68284274 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000945781 enhancer - - - - - - - - - rs4142048,COSV53266062 - - - - - - - - - - - - - - - - - 0.2993 - 0,1 0,1 - - - - - - . 10:68285444-68285444 A downstream_gene_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000277795.8 retained_intron - - - - - - - - - rs7909365 1583 -1 - HGNC HGNC:23301 - - 4 - - Ensembl - C C - - - 0.9675 - - - - - - - - - . 10:68285444-68285444 A intron_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000309049.8 protein_coding - 8/9 - - - - - - - rs7909365 - -1 - HGNC HGNC:23301 - - 1 P1 - Ensembl - C C - - - 0.9675 - - - - - - - - - . 10:68285444-68285444 A intron_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000336578.5 protein_coding - 6/7 - - - - - - - rs7909365 - -1 - HGNC HGNC:23301 - - 1 - - Ensembl - C C - - - 0.9675 - - - - - - - - - . 10:68285444-68285444 A intron_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000358769.7 protein_coding - 8/9 - - - - - - - rs7909365 - -1 - HGNC HGNC:23301 NM_022129.4 - 5 P1 - Ensembl - C C - - - 0.9675 - - - - - - - - - . 10:68285444-68285444 A intron_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000468798.5 protein_coding - 2/2 - - - - - - - rs7909365 - -1 cds_start_NF HGNC HGNC:23301 - - 3 - - Ensembl - C C - - - 0.9675 - - - - - - - - - . 10:68285444-68285444 A intron_variant MODIFIER PBLD ENSG00000108187 Transcript ENST00000495025.2 protein_coding - 8/8 - - - - - - - rs7909365 - -1 - HGNC HGNC:23301 - - 5 - - Ensembl - C C - - - 0.9675 - - - - - - - - - . 10:68285444-68285444 A intron_variant MODIFIER PBLD 64081 Transcript NM_001033083.2 protein_coding - 8/8 - - - - - - - rs7909365 - -1 - EntrezGene HGNC:23301 - - - - - RefSeq - C C - - - 0.9675 - - - - - - - - - . 10:68285444-68285444 A intron_variant MODIFIER PBLD 64081 Transcript NM_022129.4 protein_coding - 8/9 - - - - - - - rs7909365 - -1 - EntrezGene HGNC:23301 ENST00000358769.7 - - - - RefSeq - C C - - - 0.9675 - - - - - - - - - . 10:68285444-68285444 A intron_variant MODIFIER PBLD 64081 Transcript XM_005270028.5 protein_coding - 8/9 - - - - - - - rs7909365 - -1 - EntrezGene HGNC:23301 - - - - - RefSeq - C C - - - 0.9675 - - - - - - - - - . 10:68285444-68285444 A intron_variant MODIFIER PBLD 64081 Transcript XM_011540060.4 protein_coding - 8/9 - - - - - - - rs7909365 - -1 - EntrezGene HGNC:23301 - - - - - RefSeq - C C - - - 0.9675 - - - - - - - - - . 10:68285444-68285444 A intron_variant MODIFIER PBLD 64081 Transcript XM_017016513.2 protein_coding - 8/9 - - - - - - - rs7909365 - -1 - EntrezGene HGNC:23301 - - - - - RefSeq - C C - - - 0.9675 - - - - - - - - - . 10:68285444-68285444 A downstream_gene_variant MODIFIER PBLD 64081 Transcript XM_017016514.2 protein_coding - - - - - - - - - rs7909365 3487 -1 - EntrezGene HGNC:23301 - - - - - RefSeq - C C - - - 0.9675 - - - - - - - - - . 10:68430398-68430398 G intron_variant MODIFIER DNA2 ENSG00000138346 Transcript ENST00000358410.8 protein_coding - 14/20 - - - - - - - rs12221039,COSV64428153 - -1 - HGNC HGNC:2939 NM_001080449.3 - 1 P1 - Ensembl - A A - - - 0.1308 benign 0,1 1,1 16385451 - - - - - . 10:68430398-68430398 G intron_variant,NMD_transcript_variant MODIFIER DNA2 ENSG00000138346 Transcript ENST00000399179.6 nonsense_mediated_decay - 15/21 - - - - - - - rs12221039,COSV64428153 - -1 - HGNC HGNC:2939 - - 2 - - Ensembl - A A - - - 0.1308 benign 0,1 1,1 16385451 - - - - - . 10:68430398-68430398 G intron_variant MODIFIER DNA2 ENSG00000138346 Transcript ENST00000440722.2 protein_coding - 1/6 - - - - - - - rs12221039,COSV64428153 - -1 cds_start_NF HGNC HGNC:2939 - - 1 - - Ensembl - A A - - - 0.1308 benign 0,1 1,1 16385451 - - - - - . 10:68430398-68430398 G intron_variant MODIFIER DNA2 ENSG00000138346 Transcript ENST00000551118.6 protein_coding - 13/16 - - - - - - - rs12221039,COSV64428153 - -1 - HGNC HGNC:2939 - - 5 - - Ensembl - A A - - - 0.1308 benign 0,1 1,1 16385451 - - - - - . 10:68430398-68430398 G intron_variant MODIFIER DNA2 1763 Transcript NM_001080449.3 protein_coding - 14/20 - - - - - - - rs12221039,COSV64428153 - -1 - EntrezGene HGNC:2939 ENST00000358410.8 - - - - RefSeq - A A - - - 0.1308 benign 0,1 1,1 16385451 - - - - - . 10:68430398-68430398 G intron_variant,non_coding_transcript_variant MODIFIER DNA2 1763 Transcript NR_102264.2 misc_RNA - 15/21 - - - - - - - rs12221039,COSV64428153 - -1 - EntrezGene HGNC:2939 - - - - - RefSeq - A A - - - 0.1308 benign 0,1 1,1 16385451 - - - - - . 10:68430398-68430398 G intron_variant MODIFIER DNA2 1763 Transcript XM_006717680.3 protein_coding - 15/21 - - - - - - - rs12221039,COSV64428153 - -1 - EntrezGene HGNC:2939 - - - - - RefSeq - A A - - - 0.1308 benign 0,1 1,1 16385451 - - - - - . 10:68430398-68430398 G intron_variant MODIFIER DNA2 1763 Transcript XM_011539417.1 protein_coding - 8/14 - - - - - - - rs12221039,COSV64428153 - -1 - EntrezGene HGNC:2939 - - - - - RefSeq - A A - - - 0.1308 benign 0,1 1,1 16385451 - - - - - . 10:68430398-68430398 G intron_variant MODIFIER DNA2 1763 Transcript XM_017015799.1 protein_coding - 11/17 - - - - - - - rs12221039,COSV64428153 - -1 - EntrezGene HGNC:2939 - - - - - RefSeq - A A - - - 0.1308 benign 0,1 1,1 16385451 - - - - - . 10:68465747-68465747 T synonymous_variant LOW DNA2 ENSG00000138346 Transcript ENST00000358410.8 protein_coding 4/21 - - - 616 507 169 A gcC/gcA rs3758626,COSV63063099 - -1 - HGNC HGNC:2939 NM_001080449.3 - 1 P1 - Ensembl - G G - - - 0.3664 benign 0,1 1,1 25741868 - - - - - . 10:68465747-68465747 T downstream_gene_variant MODIFIER RNA5SP319 ENSG00000199638 Transcript ENST00000362768.1 rRNA_pseudogene - - - - - - - - - rs3758626,COSV63063099 4222 1 - HGNC HGNC:43219 - - - - - Ensembl - G G - - - 0.3664 benign 0,1 1,1 25741868 - - - - - . 10:68465747-68465747 T synonymous_variant,NMD_transcript_variant LOW DNA2 ENSG00000138346 Transcript ENST00000399179.6 nonsense_mediated_decay 5/22 - - - 596 507 169 A gcC/gcA rs3758626,COSV63063099 - -1 - HGNC HGNC:2939 - - 2 - - Ensembl - G G - - - 0.3664 benign 0,1 1,1 25741868 - - - - - . 10:68465747-68465747 T downstream_gene_variant MODIFIER DNA2 ENSG00000138346 Transcript ENST00000550357.1 nonsense_mediated_decay - - - - - - - - - rs3758626,COSV63063099 2420 -1 - HGNC HGNC:2939 - - 4 - - Ensembl - G G - - - 0.3664 benign 0,1 1,1 25741868 - - - - - . 10:68465747-68465747 T synonymous_variant LOW DNA2 ENSG00000138346 Transcript ENST00000551118.6 protein_coding 4/17 - - - 529 507 169 A gcC/gcA rs3758626,COSV63063099 - -1 - HGNC HGNC:2939 - - 5 - - Ensembl - G G - - - 0.3664 benign 0,1 1,1 25741868 - - - - - . 10:68465747-68465747 T synonymous_variant LOW DNA2 1763 Transcript NM_001080449.3 protein_coding 4/21 - - - 616 507 169 A gcC/gcA rs3758626,COSV63063099 - -1 - EntrezGene HGNC:2939 ENST00000358410.8 - - - - RefSeq - G G - - - 0.3664 benign 0,1 1,1 25741868 - - - - - . 10:68465747-68465747 T non_coding_transcript_exon_variant MODIFIER DNA2 1763 Transcript NR_102264.2 misc_RNA 5/22 - - - 596 - - - - rs3758626,COSV63063099 - -1 - EntrezGene HGNC:2939 - - - - - RefSeq - G G - - - 0.3664 benign 0,1 1,1 25741868 - - - - - . 10:68465747-68465747 T synonymous_variant LOW DNA2 1763 Transcript XM_006717680.3 protein_coding 5/22 - - - 996 597 199 A gcC/gcA rs3758626,COSV63063099 - -1 - EntrezGene HGNC:2939 - - - - - RefSeq - G G - - - 0.3664 benign 0,1 1,1 25741868 - - - - - . 10:68465747-68465747 T intron_variant MODIFIER DNA2 1763 Transcript XM_017015799.1 protein_coding - 1/17 - - - - - - - rs3758626,COSV63063099 - -1 - EntrezGene HGNC:2939 - - - - - RefSeq - G G - - - 0.3664 benign 0,1 1,1 25741868 - - - - - . 10:68468207-68468207 T synonymous_variant LOW DNA2 ENSG00000138346 Transcript ENST00000358410.8 protein_coding 3/21 - - - 466 357 119 L ctG/ctA rs10998205,COSV64427426 - -1 - HGNC HGNC:2939 NM_001080449.3 - 1 P1 - Ensembl - C C - - - 0.1392 benign 0,1 1,1 25741868 - - - - - . 10:68468207-68468207 T synonymous_variant,NMD_transcript_variant LOW DNA2 ENSG00000138346 Transcript ENST00000399179.6 nonsense_mediated_decay 4/22 - - - 446 357 119 L ctG/ctA rs10998205,COSV64427426 - -1 - HGNC HGNC:2939 - - 2 - - Ensembl - C C - - - 0.1392 benign 0,1 1,1 25741868 - - - - - . 10:68468207-68468207 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DNA2 ENSG00000138346 Transcript ENST00000550357.1 nonsense_mediated_decay 4/4 - - - 503 - - - - rs10998205,COSV64427426 - -1 - HGNC HGNC:2939 - - 4 - - Ensembl - C C - - - 0.1392 benign 0,1 1,1 25741868 - - - - - . 10:68468207-68468207 T synonymous_variant LOW DNA2 ENSG00000138346 Transcript ENST00000551118.6 protein_coding 3/17 - - - 379 357 119 L ctG/ctA rs10998205,COSV64427426 - -1 - HGNC HGNC:2939 - - 5 - - Ensembl - C C - - - 0.1392 benign 0,1 1,1 25741868 - - - - - . 10:68468207-68468207 T synonymous_variant LOW DNA2 1763 Transcript NM_001080449.3 protein_coding 3/21 - - - 466 357 119 L ctG/ctA rs10998205,COSV64427426 - -1 - EntrezGene HGNC:2939 ENST00000358410.8 - - - - RefSeq - C C - - - 0.1392 benign 0,1 1,1 25741868 - - - - - . 10:68468207-68468207 T non_coding_transcript_exon_variant MODIFIER DNA2 1763 Transcript NR_102264.2 misc_RNA 4/22 - - - 446 - - - - rs10998205,COSV64427426 - -1 - EntrezGene HGNC:2939 - - - - - RefSeq - C C - - - 0.1392 benign 0,1 1,1 25741868 - - - - - . 10:68468207-68468207 T synonymous_variant LOW DNA2 1763 Transcript XM_006717680.3 protein_coding 4/22 - - - 846 447 149 L ctG/ctA rs10998205,COSV64427426 - -1 - EntrezGene HGNC:2939 - - - - - RefSeq - C C - - - 0.1392 benign 0,1 1,1 25741868 - - - - - . 10:68468207-68468207 T 5_prime_UTR_variant MODIFIER DNA2 1763 Transcript XM_017015799.1 protein_coding 1/18 - - - 1 - - - - rs10998205,COSV64427426 - -1 - EntrezGene HGNC:2939 - - - - - RefSeq - C C - - - 0.1392 benign 0,1 1,1 25741868 - - - - - . 10:68572915-68572915 A missense_variant MODERATE TET1 ENSG00000138336 Transcript ENST00000373644.5 protein_coding 2/12 - - - 1105 577 193 S/T Tcc/Acc rs12773594,COSV65385146 - 1 - HGNC HGNC:29484 NM_030625.3 - 1 P1 - Ensembl - T T - tolerated(0.1) benign(0.053) 0.1717 - 0,1 1,1 26491355,33230300 - - - - - . 10:68572915-68572915 A missense_variant MODERATE TET1 80312 Transcript NM_030625.3 protein_coding 2/12 - - - 1105 577 193 S/T Tcc/Acc rs12773594,COSV65385146 - 1 - EntrezGene HGNC:29484 ENST00000373644.5 - - - - RefSeq - T T - tolerated(0.1) benign(0.053) 0.1717 - 0,1 1,1 26491355,33230300 - - - - - . 10:68572915-68572915 A missense_variant MODERATE TET1 80312 Transcript XM_011540204.3 protein_coding 2/13 - - - 1105 577 193 S/T Tcc/Acc rs12773594,COSV65385146 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - T T - - - 0.1717 - 0,1 1,1 26491355,33230300 - - - - - . 10:68572915-68572915 A missense_variant MODERATE TET1 80312 Transcript XM_011540206.3 protein_coding 2/7 - - - 1105 577 193 S/T Tcc/Acc rs12773594,COSV65385146 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - T T - - - 0.1717 - 0,1 1,1 26491355,33230300 - - - - - . 10:68572915-68572915 A non_coding_transcript_exon_variant MODIFIER TET1 80312 Transcript XR_001747210.2 misc_RNA 2/6 - - - 1105 - - - - rs12773594,COSV65385146 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - T T - - - 0.1717 - 0,1 1,1 26491355,33230300 - - - - - . 10:68572915-68572915 A non_coding_transcript_exon_variant MODIFIER TET1 80312 Transcript XR_001747211.2 misc_RNA 2/6 - - - 1105 - - - - rs12773594,COSV65385146 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - T T - - - 0.1717 - 0,1 1,1 26491355,33230300 - - - - - . 10:68572915-68572915 A non_coding_transcript_exon_variant MODIFIER TET1 80312 Transcript XR_001747212.2 misc_RNA 2/6 - - - 1105 - - - - rs12773594,COSV65385146 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - T T - - - 0.1717 - 0,1 1,1 26491355,33230300 - - - - - . 10:68572915-68572915 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001179423 enhancer - - - - - - - - - rs12773594,COSV65385146 - - - - - - - - - - - - - - - - - 0.1717 - 0,1 1,1 26491355,33230300 - - - - - . 10:68632562-68632562 A non_coding_transcript_exon_variant MODIFIER COX20P1 ENSG00000213025 Transcript ENST00000366529.4 processed_pseudogene 1/1 - - - 192 - - - - rs10733844 - 1 - HGNC HGNC:31435 - - - - - Ensembl - G G - - - 0.8904 - - - - - - - - - . 10:68632562-68632562 A intron_variant MODIFIER TET1 ENSG00000138336 Transcript ENST00000373644.5 protein_coding - 3/11 - - - - - - - rs10733844 - 1 - HGNC HGNC:29484 NM_030625.3 - 1 P1 - Ensembl - G G - - - 0.8904 - - - - - - - - - . 10:68632562-68632562 A intron_variant MODIFIER TET1 80312 Transcript NM_030625.3 protein_coding - 3/11 - - - - - - - rs10733844 - 1 - EntrezGene HGNC:29484 ENST00000373644.5 - - - - RefSeq - G G - - - 0.8904 - - - - - - - - - . 10:68632562-68632562 A intron_variant MODIFIER TET1 80312 Transcript XM_011540204.3 protein_coding - 3/12 - - - - - - - rs10733844 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.8904 - - - - - - - - - . 10:68632562-68632562 A intron_variant MODIFIER TET1 80312 Transcript XM_011540205.3 protein_coding - 2/11 - - - - - - - rs10733844 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.8904 - - - - - - - - - . 10:68632562-68632562 A intron_variant MODIFIER TET1 80312 Transcript XM_011540206.3 protein_coding - 3/6 - - - - - - - rs10733844 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.8904 - - - - - - - - - . 10:68632562-68632562 A upstream_gene_variant MODIFIER TET1 80312 Transcript XM_017016686.3 protein_coding - - - - - - - - - rs10733844 4054 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.8904 - - - - - - - - - . 10:68632562-68632562 A intron_variant MODIFIER TET1 80312 Transcript XM_017016687.2 protein_coding - 3/12 - - - - - - - rs10733844 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.8904 - - - - - - - - - . 10:68632562-68632562 A intron_variant MODIFIER TET1 80312 Transcript XM_017016688.2 protein_coding - 3/12 - - - - - - - rs10733844 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.8904 - - - - - - - - - . 10:68632562-68632562 A intron_variant,non_coding_transcript_variant MODIFIER TET1 80312 Transcript XR_001747210.2 misc_RNA - 3/5 - - - - - - - rs10733844 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.8904 - - - - - - - - - . 10:68632562-68632562 A intron_variant,non_coding_transcript_variant MODIFIER TET1 80312 Transcript XR_001747211.2 misc_RNA - 3/5 - - - - - - - rs10733844 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.8904 - - - - - - - - - . 10:68632562-68632562 A intron_variant,non_coding_transcript_variant MODIFIER TET1 80312 Transcript XR_001747212.2 misc_RNA - 3/5 - - - - - - - rs10733844 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.8904 - - - - - - - - - . 10:68632618-68632618 A non_coding_transcript_exon_variant MODIFIER COX20P1 ENSG00000213025 Transcript ENST00000366529.4 processed_pseudogene 1/1 - - - 248 - - - - rs1747 - 1 - HGNC HGNC:31435 - - - - - Ensembl - G G - - - 0.4517 - - - - - - - - - . 10:68632618-68632618 A intron_variant MODIFIER TET1 ENSG00000138336 Transcript ENST00000373644.5 protein_coding - 3/11 - - - - - - - rs1747 - 1 - HGNC HGNC:29484 NM_030625.3 - 1 P1 - Ensembl - G G - - - 0.4517 - - - - - - - - - . 10:68632618-68632618 A intron_variant MODIFIER TET1 80312 Transcript NM_030625.3 protein_coding - 3/11 - - - - - - - rs1747 - 1 - EntrezGene HGNC:29484 ENST00000373644.5 - - - - RefSeq - G G - - - 0.4517 - - - - - - - - - . 10:68632618-68632618 A intron_variant MODIFIER TET1 80312 Transcript XM_011540204.3 protein_coding - 3/12 - - - - - - - rs1747 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.4517 - - - - - - - - - . 10:68632618-68632618 A intron_variant MODIFIER TET1 80312 Transcript XM_011540205.3 protein_coding - 2/11 - - - - - - - rs1747 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.4517 - - - - - - - - - . 10:68632618-68632618 A intron_variant MODIFIER TET1 80312 Transcript XM_011540206.3 protein_coding - 3/6 - - - - - - - rs1747 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.4517 - - - - - - - - - . 10:68632618-68632618 A upstream_gene_variant MODIFIER TET1 80312 Transcript XM_017016686.3 protein_coding - - - - - - - - - rs1747 3998 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.4517 - - - - - - - - - . 10:68632618-68632618 A intron_variant MODIFIER TET1 80312 Transcript XM_017016687.2 protein_coding - 3/12 - - - - - - - rs1747 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.4517 - - - - - - - - - . 10:68632618-68632618 A intron_variant MODIFIER TET1 80312 Transcript XM_017016688.2 protein_coding - 3/12 - - - - - - - rs1747 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.4517 - - - - - - - - - . 10:68632618-68632618 A intron_variant,non_coding_transcript_variant MODIFIER TET1 80312 Transcript XR_001747210.2 misc_RNA - 3/5 - - - - - - - rs1747 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.4517 - - - - - - - - - . 10:68632618-68632618 A intron_variant,non_coding_transcript_variant MODIFIER TET1 80312 Transcript XR_001747211.2 misc_RNA - 3/5 - - - - - - - rs1747 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.4517 - - - - - - - - - . 10:68632618-68632618 A intron_variant,non_coding_transcript_variant MODIFIER TET1 80312 Transcript XR_001747212.2 misc_RNA - 3/5 - - - - - - - rs1747 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.4517 - - - - - - - - - . 10:68645193-68645193 A missense_variant MODERATE TET1 ENSG00000138336 Transcript ENST00000373644.5 protein_coding 4/12 - - - 2992 2464 822 V/I Gtt/Att rs376967368 - 1 - HGNC HGNC:29484 NM_030625.3 - 1 P1 - Ensembl - G G - tolerated(0.32) benign(0.001) 0.0002 - - - - - - - - - . 10:68645193-68645193 A missense_variant MODERATE TET1 80312 Transcript NM_030625.3 protein_coding 4/12 - - - 2992 2464 822 V/I Gtt/Att rs376967368 - 1 - EntrezGene HGNC:29484 ENST00000373644.5 - - - - RefSeq - G G - tolerated(0.32) benign(0.001) 0.0002 - - - - - - - - - . 10:68645193-68645193 A missense_variant MODERATE TET1 80312 Transcript XM_011540204.3 protein_coding 4/13 - - - 2992 2464 822 V/I Gtt/Att rs376967368 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:68645193-68645193 A missense_variant MODERATE TET1 80312 Transcript XM_011540205.3 protein_coding 3/12 - - - 956 553 185 V/I Gtt/Att rs376967368 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:68645193-68645193 A missense_variant MODERATE TET1 80312 Transcript XM_011540206.3 protein_coding 4/7 - - - 2992 2464 822 V/I Gtt/Att rs376967368 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:68645193-68645193 A missense_variant MODERATE TET1 80312 Transcript XM_017016686.3 protein_coding 2/11 - - - 654 517 173 V/I Gtt/Att rs376967368 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:68645193-68645193 A missense_variant MODERATE TET1 80312 Transcript XM_017016687.2 protein_coding 4/13 - - - 896 505 169 V/I Gtt/Att rs376967368 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:68645193-68645193 A missense_variant MODERATE TET1 80312 Transcript XM_017016688.2 protein_coding 4/13 - - - 783 505 169 V/I Gtt/Att rs376967368 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:68645193-68645193 A non_coding_transcript_exon_variant MODIFIER TET1 80312 Transcript XR_001747210.2 misc_RNA 4/6 - - - 2992 - - - - rs376967368 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:68645193-68645193 A non_coding_transcript_exon_variant MODIFIER TET1 80312 Transcript XR_001747211.2 misc_RNA 4/6 - - - 2992 - - - - rs376967368 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:68645193-68645193 A non_coding_transcript_exon_variant MODIFIER TET1 80312 Transcript XR_001747212.2 misc_RNA 4/6 - - - 2992 - - - - rs376967368 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.0002 - - - - - - - - - . 10:68645480-68645480 A synonymous_variant LOW TET1 ENSG00000138336 Transcript ENST00000373644.5 protein_coding 4/12 - - - 3279 2751 917 E gaG/gaA rs12241767,COSV65383167 - 1 - HGNC HGNC:29484 NM_030625.3 - 1 P1 - Ensembl - G G - - - 0.2129 benign 0,1 1,1 36224396 - - - - - . 10:68645480-68645480 A synonymous_variant LOW TET1 80312 Transcript NM_030625.3 protein_coding 4/12 - - - 3279 2751 917 E gaG/gaA rs12241767,COSV65383167 - 1 - EntrezGene HGNC:29484 ENST00000373644.5 - - - - RefSeq - G G - - - 0.2129 benign 0,1 1,1 36224396 - - - - - . 10:68645480-68645480 A synonymous_variant LOW TET1 80312 Transcript XM_011540204.3 protein_coding 4/13 - - - 3279 2751 917 E gaG/gaA rs12241767,COSV65383167 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.2129 benign 0,1 1,1 36224396 - - - - - . 10:68645480-68645480 A synonymous_variant LOW TET1 80312 Transcript XM_011540205.3 protein_coding 3/12 - - - 1243 840 280 E gaG/gaA rs12241767,COSV65383167 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.2129 benign 0,1 1,1 36224396 - - - - - . 10:68645480-68645480 A synonymous_variant LOW TET1 80312 Transcript XM_011540206.3 protein_coding 4/7 - - - 3279 2751 917 E gaG/gaA rs12241767,COSV65383167 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.2129 benign 0,1 1,1 36224396 - - - - - . 10:68645480-68645480 A synonymous_variant LOW TET1 80312 Transcript XM_017016686.3 protein_coding 2/11 - - - 941 804 268 E gaG/gaA rs12241767,COSV65383167 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.2129 benign 0,1 1,1 36224396 - - - - - . 10:68645480-68645480 A synonymous_variant LOW TET1 80312 Transcript XM_017016687.2 protein_coding 4/13 - - - 1183 792 264 E gaG/gaA rs12241767,COSV65383167 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.2129 benign 0,1 1,1 36224396 - - - - - . 10:68645480-68645480 A synonymous_variant LOW TET1 80312 Transcript XM_017016688.2 protein_coding 4/13 - - - 1070 792 264 E gaG/gaA rs12241767,COSV65383167 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.2129 benign 0,1 1,1 36224396 - - - - - . 10:68645480-68645480 A non_coding_transcript_exon_variant MODIFIER TET1 80312 Transcript XR_001747210.2 misc_RNA 4/6 - - - 3279 - - - - rs12241767,COSV65383167 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.2129 benign 0,1 1,1 36224396 - - - - - . 10:68645480-68645480 A non_coding_transcript_exon_variant MODIFIER TET1 80312 Transcript XR_001747211.2 misc_RNA 4/6 - - - 3279 - - - - rs12241767,COSV65383167 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.2129 benign 0,1 1,1 36224396 - - - - - . 10:68645480-68645480 A non_coding_transcript_exon_variant MODIFIER TET1 80312 Transcript XR_001747212.2 misc_RNA 4/6 - - - 3279 - - - - rs12241767,COSV65383167 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - G G - - - 0.2129 benign 0,1 1,1 36224396 - - - - - . 10:68645782-68645782 G missense_variant MODERATE TET1 ENSG00000138336 Transcript ENST00000373644.5 protein_coding 4/12 - - - 3581 3053 1018 N/S aAt/aGt rs16925541,COSV65383137 - 1 - HGNC HGNC:29484 NM_030625.3 - 1 P1 - Ensembl - A A - tolerated(0.25) benign(0.003) 0.0833 - 0,1 0,1 - - - - - - . 10:68645782-68645782 G missense_variant MODERATE TET1 80312 Transcript NM_030625.3 protein_coding 4/12 - - - 3581 3053 1018 N/S aAt/aGt rs16925541,COSV65383137 - 1 - EntrezGene HGNC:29484 ENST00000373644.5 - - - - RefSeq - A A - tolerated(0.25) benign(0.003) 0.0833 - 0,1 0,1 - - - - - - . 10:68645782-68645782 G missense_variant MODERATE TET1 80312 Transcript XM_011540204.3 protein_coding 4/13 - - - 3581 3053 1018 N/S aAt/aGt rs16925541,COSV65383137 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - A A - - - 0.0833 - 0,1 0,1 - - - - - - . 10:68645782-68645782 G missense_variant MODERATE TET1 80312 Transcript XM_011540205.3 protein_coding 3/12 - - - 1545 1142 381 N/S aAt/aGt rs16925541,COSV65383137 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - A A - - - 0.0833 - 0,1 0,1 - - - - - - . 10:68645782-68645782 G missense_variant MODERATE TET1 80312 Transcript XM_011540206.3 protein_coding 4/7 - - - 3581 3053 1018 N/S aAt/aGt rs16925541,COSV65383137 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - A A - - - 0.0833 - 0,1 0,1 - - - - - - . 10:68645782-68645782 G missense_variant MODERATE TET1 80312 Transcript XM_017016686.3 protein_coding 2/11 - - - 1243 1106 369 N/S aAt/aGt rs16925541,COSV65383137 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - A A - - - 0.0833 - 0,1 0,1 - - - - - - . 10:68645782-68645782 G missense_variant MODERATE TET1 80312 Transcript XM_017016687.2 protein_coding 4/13 - - - 1485 1094 365 N/S aAt/aGt rs16925541,COSV65383137 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - A A - - - 0.0833 - 0,1 0,1 - - - - - - . 10:68645782-68645782 G missense_variant MODERATE TET1 80312 Transcript XM_017016688.2 protein_coding 4/13 - - - 1372 1094 365 N/S aAt/aGt rs16925541,COSV65383137 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - A A - - - 0.0833 - 0,1 0,1 - - - - - - . 10:68645782-68645782 G non_coding_transcript_exon_variant MODIFIER TET1 80312 Transcript XR_001747210.2 misc_RNA 4/6 - - - 3581 - - - - rs16925541,COSV65383137 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - A A - - - 0.0833 - 0,1 0,1 - - - - - - . 10:68645782-68645782 G non_coding_transcript_exon_variant MODIFIER TET1 80312 Transcript XR_001747211.2 misc_RNA 4/6 - - - 3581 - - - - rs16925541,COSV65383137 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - A A - - - 0.0833 - 0,1 0,1 - - - - - - . 10:68645782-68645782 G non_coding_transcript_exon_variant MODIFIER TET1 80312 Transcript XR_001747212.2 misc_RNA 4/6 - - - 3581 - - - - rs16925541,COSV65383137 - 1 - EntrezGene HGNC:29484 - - - - - RefSeq - A A - - - 0.0833 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A synonymous_variant LOW CCAR1 ENSG00000060339 Transcript ENST00000265872.11 protein_coding 6/25 - - - 574 480 160 T acG/acA rs1300253,COSV56272250 - 1 - HGNC HGNC:24236 NM_018237.4 - 1 P1 - Ensembl - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A 5_prime_UTR_variant MODIFIER CCAR1 ENSG00000060339 Transcript ENST00000536012.5 protein_coding 4/16 - - - 403 - - - - rs1300253,COSV56272250 - 1 cds_end_NF HGNC HGNC:24236 - - 1 - - Ensembl - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A downstream_gene_variant MODIFIER CCAR1 ENSG00000060339 Transcript ENST00000536391.5 protein_coding - - - - - - - - - rs1300253,COSV56272250 123 1 cds_end_NF HGNC HGNC:24236 - - 4 - - Ensembl - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A synonymous_variant LOW CCAR1 ENSG00000060339 Transcript ENST00000538031.5 protein_coding 6/6 - - - 721 480 160 T acG/acA rs1300253,COSV56272250 - 1 cds_end_NF HGNC HGNC:24236 - - 3 - - Ensembl - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A synonymous_variant LOW CCAR1 ENSG00000060339 Transcript ENST00000539539.5 protein_coding 5/22 - - - 529 435 145 T acG/acA rs1300253,COSV56272250 - 1 cds_end_NF HGNC HGNC:24236 - - 2 - - Ensembl - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A synonymous_variant,NMD_transcript_variant LOW CCAR1 ENSG00000060339 Transcript ENST00000540210.5 nonsense_mediated_decay 6/24 - - - 564 480 160 T acG/acA rs1300253,COSV56272250 - 1 - HGNC HGNC:24236 - - 1 - - Ensembl - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A synonymous_variant,NMD_transcript_variant LOW CCAR1 ENSG00000060339 Transcript ENST00000541012.5 nonsense_mediated_decay 6/17 - - - 586 480 160 T acG/acA rs1300253,COSV56272250 - 1 - HGNC HGNC:24236 - - 1 - - Ensembl - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A synonymous_variant LOW CCAR1 ENSG00000060339 Transcript ENST00000543225.5 protein_coding 4/16 - - - 493 402 134 T acG/acA rs1300253,COSV56272250 - 1 cds_end_NF HGNC HGNC:24236 - - 1 - - Ensembl - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER CCAR1 ENSG00000060339 Transcript ENST00000543229.5 nonsense_mediated_decay 4/16 - - - 444 - - - - rs1300253,COSV56272250 - 1 - HGNC HGNC:24236 - - 2 - - Ensembl - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A synonymous_variant LOW CCAR1 ENSG00000060339 Transcript ENST00000543719.5 protein_coding 5/24 - - - 548 435 145 T acG/acA rs1300253,COSV56272250 - 1 - HGNC HGNC:24236 - - 5 - - Ensembl - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A synonymous_variant LOW CCAR1 ENSG00000060339 Transcript ENST00000630771.2 protein_coding 6/24 - - - 669 480 160 T acG/acA rs1300253,COSV56272250 - 1 - HGNC HGNC:24236 - - 5 - - Ensembl - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A synonymous_variant LOW CCAR1 55749 Transcript NM_001282959.2 protein_coding 5/24 - - - 535 435 145 T acG/acA rs1300253,COSV56272250 - 1 - EntrezGene HGNC:24236 - - - - - RefSeq - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A synonymous_variant LOW CCAR1 55749 Transcript NM_001282960.2 protein_coding 5/24 - - - 529 435 145 T acG/acA rs1300253,COSV56272250 - 1 - EntrezGene HGNC:24236 - - - - - RefSeq - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A synonymous_variant LOW CCAR1 55749 Transcript NM_018237.4 protein_coding 6/25 - - - 574 480 160 T acG/acA rs1300253,COSV56272250 - 1 - EntrezGene HGNC:24236 ENST00000265872.11 - - - - RefSeq - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68742531-68742531 A non_coding_transcript_exon_variant MODIFIER CCAR1 55749 Transcript NR_104262.2 misc_RNA 6/24 - - - 580 - - - - rs1300253,COSV56272250 - 1 - EntrezGene HGNC:24236 - - - - - RefSeq - G G - - - 0.8614 - 0,1 0,1 - - - - - - . 10:68882104-68882104 C missense_variant MODERATE STOX1 ENSG00000165730 Transcript ENST00000298596.11 protein_coding 2/4 - - - 550 457 153 Y/H Tac/Cac rs1341667,CM057373,COSV53816198 - 1 - HGNC HGNC:23508 NM_152709.5 - 1 P4 - Ensembl - T T - deleterious(0.03) benign(0.109) 0.6124 risk_factor 0,0,1 1,1,1 29334895,26547235,16385451,15806103,17325670,20643876,17959244,34871806 - - - - - . 10:68882104-68882104 C missense_variant MODERATE STOX1 ENSG00000165730 Transcript ENST00000399162.2 protein_coding 2/3 - - - 457 457 153 Y/H Tac/Cac rs1341667,CM057373,COSV53816198 - 1 - HGNC HGNC:23508 - - 1 - - Ensembl - T T - tolerated(0.45) benign(0.336) 0.6124 risk_factor 0,0,1 1,1,1 29334895,26547235,16385451,15806103,17325670,20643876,17959244,34871806 - - - - - . 10:68882104-68882104 C missense_variant MODERATE STOX1 ENSG00000165730 Transcript ENST00000399165.8 protein_coding 2/4 - - - 457 457 153 Y/H Tac/Cac rs1341667,CM057373,COSV53816198 - 1 - HGNC HGNC:23508 - - 1 A1 - Ensembl - T T - tolerated(0.34) benign(0.072) 0.6124 risk_factor 0,0,1 1,1,1 29334895,26547235,16385451,15806103,17325670,20643876,17959244,34871806 - - - - - . 10:68882104-68882104 C missense_variant MODERATE STOX1 ENSG00000165730 Transcript ENST00000399169.8 protein_coding 2/5 - - - 540 457 153 Y/H Tac/Cac rs1341667,CM057373,COSV53816198 - 1 - HGNC HGNC:23508 - - 1 P4 - Ensembl - T T - deleterious(0.03) benign(0.109) 0.6124 risk_factor 0,0,1 1,1,1 29334895,26547235,16385451,15806103,17325670,20643876,17959244,34871806 - - - - - . 10:68882104-68882104 C missense_variant MODERATE STOX1 ENSG00000165730 Transcript ENST00000642869.1 protein_coding 2/4 - - - 793 793 265 Y/H Tac/Cac rs1341667,CM057373,COSV53816198 - 1 - HGNC HGNC:23508 - - - A2 - Ensembl - T T - deleterious(0.02) benign(0.102) 0.6124 risk_factor 0,0,1 1,1,1 29334895,26547235,16385451,15806103,17325670,20643876,17959244,34871806 - - - - - . 10:68882104-68882104 C missense_variant MODERATE STOX1 219736 Transcript NM_001130159.3 protein_coding 2/4 - - - 550 457 153 Y/H Tac/Cac rs1341667,CM057373,COSV53816198 - 1 - EntrezGene HGNC:23508 - - - - - RefSeq - T T - tolerated(0.34) benign(0.072) 0.6124 risk_factor 0,0,1 1,1,1 29334895,26547235,16385451,15806103,17325670,20643876,17959244,34871806 - - - - - . 10:68882104-68882104 C missense_variant MODERATE STOX1 219736 Transcript NM_001130160.3 protein_coding 2/3 - - - 550 457 153 Y/H Tac/Cac rs1341667,CM057373,COSV53816198 - 1 - EntrezGene HGNC:23508 - - - - - RefSeq - T T - tolerated(0.45) benign(0.336) 0.6124 risk_factor 0,0,1 1,1,1 29334895,26547235,16385451,15806103,17325670,20643876,17959244,34871806 - - - - - . 10:68882104-68882104 C missense_variant MODERATE STOX1 219736 Transcript NM_001130161.4 protein_coding 2/5 - - - 550 457 153 Y/H Tac/Cac rs1341667,CM057373,COSV53816198 - 1 - EntrezGene HGNC:23508 - - - - - RefSeq - T T - deleterious(0.03) benign(0.109) 0.6124 risk_factor 0,0,1 1,1,1 29334895,26547235,16385451,15806103,17325670,20643876,17959244,34871806 - - - - - . 10:68882104-68882104 C missense_variant MODERATE STOX1 219736 Transcript NM_152709.5 protein_coding 2/4 - - - 550 457 153 Y/H Tac/Cac rs1341667,CM057373,COSV53816198 - 1 - EntrezGene HGNC:23508 ENST00000298596.11 - - - - RefSeq - T T - deleterious(0.03) benign(0.109) 0.6124 risk_factor 0,0,1 1,1,1 29334895,26547235,16385451,15806103,17325670,20643876,17959244,34871806 - - - - - . 10:68882104-68882104 C missense_variant MODERATE STOX1 219736 Transcript XM_011539454.3 protein_coding 2/4 - - - 440 127 43 Y/H Tac/Cac rs1341667,CM057373,COSV53816198 - 1 - EntrezGene HGNC:23508 - - - - - RefSeq - T T - - - 0.6124 risk_factor 0,0,1 1,1,1 29334895,26547235,16385451,15806103,17325670,20643876,17959244,34871806 - - - - - . 10:68934771-68934771 T intron_variant MODIFIER DDX50 ENSG00000107625 Transcript ENST00000373585.8 protein_coding - 9/14 - - - - - - - rs534152345 - 1 - HGNC HGNC:17906 NM_024045.2 - 1 P1 - Ensembl - A A - - - 0.0006 - - - - - - - - - . 10:68934771-68934771 T intron_variant,non_coding_transcript_variant MODIFIER DDX50 ENSG00000107625 Transcript ENST00000460470.1 protein_coding_CDS_not_defined - 3/3 - - - - - - - rs534152345 - 1 - HGNC HGNC:17906 - - 5 - - Ensembl - A A - - - 0.0006 - - - - - - - - - . 10:68934771-68934771 T intron_variant,non_coding_transcript_variant MODIFIER DDX50 ENSG00000107625 Transcript ENST00000466265.1 protein_coding_CDS_not_defined - 1/5 - - - - - - - rs534152345 - 1 - HGNC HGNC:17906 - - 3 - - Ensembl - A A - - - 0.0006 - - - - - - - - - . 10:68934771-68934771 T intron_variant MODIFIER DDX50 79009 Transcript NM_024045.2 protein_coding - 9/14 - - - - - - - rs534152345 - 1 - EntrezGene HGNC:17906 ENST00000373585.8 - - - - RefSeq - A A - - - 0.0006 - - - - - - - - - . 10:68934771-68934771 T intron_variant MODIFIER DDX50 79009 Transcript XM_011540144.3 protein_coding - 10/15 - - - - - - - rs534152345 - 1 - EntrezGene HGNC:17906 - - - - - RefSeq - A A - - - 0.0006 - - - - - - - - - . 10:68934771-68934771 T intron_variant MODIFIER DDX50 79009 Transcript XM_047425726.1 protein_coding - 9/14 - - - - - - - rs534152345 - 1 - EntrezGene HGNC:17906 - - - - - RefSeq - A A - - - 0.0006 - - - - - - - - - . 10:68934771-68934771 T intron_variant MODIFIER DDX50 79009 Transcript XM_047425727.1 protein_coding - 9/14 - - - - - - - rs534152345 - 1 - EntrezGene HGNC:17906 - - - - - RefSeq - A A - - - 0.0006 - - - - - - - - - . 10:68934771-68934771 T intron_variant MODIFIER DDX50 79009 Transcript XM_047425728.1 protein_coding - 9/14 - - - - - - - rs534152345 - 1 - EntrezGene HGNC:17906 - - - - - RefSeq - A A - - - 0.0006 - - - - - - - - - . 10:68936957-68936957 T synonymous_variant LOW DDX50 ENSG00000107625 Transcript ENST00000373585.8 protein_coding 12/15 - - - 1687 1617 539 Y taC/taT rs5030895,COSV65293028 - 1 - HGNC HGNC:17906 NM_024045.2 - 1 P1 - Ensembl - C C - - - 0.9537 - 0,1 0,1 - - - - - - . 10:68936957-68936957 T downstream_gene_variant MODIFIER DDX50 ENSG00000107625 Transcript ENST00000460470.1 protein_coding_CDS_not_defined - - - - - - - - - rs5030895,COSV65293028 2074 1 - HGNC HGNC:17906 - - 5 - - Ensembl - C C - - - 0.9537 - 0,1 0,1 - - - - - - . 10:68936957-68936957 T non_coding_transcript_exon_variant MODIFIER DDX50 ENSG00000107625 Transcript ENST00000466265.1 protein_coding_CDS_not_defined 3/6 - - - 224 - - - - rs5030895,COSV65293028 - 1 - HGNC HGNC:17906 - - 3 - - Ensembl - C C - - - 0.9537 - 0,1 0,1 - - - - - - . 10:68936957-68936957 T synonymous_variant LOW DDX50 79009 Transcript NM_024045.2 protein_coding 12/15 - - - 1687 1617 539 Y taC/taT rs5030895,COSV65293028 - 1 - EntrezGene HGNC:17906 ENST00000373585.8 - - - - RefSeq - C C - - - 0.9537 - 0,1 0,1 - - - - - - . 10:68936957-68936957 T synonymous_variant LOW DDX50 79009 Transcript XM_011540144.3 protein_coding 13/16 - - - 1741 1422 474 Y taC/taT rs5030895,COSV65293028 - 1 - EntrezGene HGNC:17906 - - - - - RefSeq - C C - - - 0.9537 - 0,1 0,1 - - - - - - . 10:68936957-68936957 T synonymous_variant LOW DDX50 79009 Transcript XM_047425726.1 protein_coding 12/15 - - - 1901 1422 474 Y taC/taT rs5030895,COSV65293028 - 1 - EntrezGene HGNC:17906 - - - - - RefSeq - C C - - - 0.9537 - 0,1 0,1 - - - - - - . 10:68936957-68936957 T synonymous_variant LOW DDX50 79009 Transcript XM_047425727.1 protein_coding 12/15 - - - 1598 1422 474 Y taC/taT rs5030895,COSV65293028 - 1 - EntrezGene HGNC:17906 - - - - - RefSeq - C C - - - 0.9537 - 0,1 0,1 - - - - - - . 10:68936957-68936957 T synonymous_variant LOW DDX50 79009 Transcript XM_047425728.1 protein_coding 12/15 - - - 1333 735 245 Y taC/taT rs5030895,COSV65293028 - 1 - EntrezGene HGNC:17906 - - - - - RefSeq - C C - - - 0.9537 - 0,1 0,1 - - - - - - . 10:68965372-68965372 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW DDX21 ENSG00000165732 Transcript ENST00000354185.9 protein_coding - 4/14 - - - - - - - rs3898314,COSV62555204 - 1 - HGNC HGNC:2744 NM_004728.4 - 1 P1 - Ensembl - A A - - - 0.2847 - 0,1 0,1 - - - - - - . 10:68965372-68965372 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW DDX21 ENSG00000165732 Transcript ENST00000620315.2 protein_coding - 4/14 - - - - - - - rs3898314,COSV62555204 - 1 - HGNC HGNC:2744 - - 1 - - Ensembl - A A - - - 0.2847 - 0,1 0,1 - - - - - - . 10:68965372-68965372 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW DDX21 ENSG00000165732 Transcript ENST00000684824.1 protein_coding - 4/15 - - - - - - - rs3898314,COSV62555204 - 1 - HGNC HGNC:2744 - - - - - Ensembl - A A - - - 0.2847 - 0,1 0,1 - - - - - - . 10:68965372-68965372 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW DDX21 ENSG00000165732 Transcript ENST00000685106.1 protein_coding - 4/13 - - - - - - - rs3898314,COSV62555204 - 1 - HGNC HGNC:2744 - - - - - Ensembl - A A - - - 0.2847 - 0,1 0,1 - - - - - - . 10:68965372-68965372 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW DDX21 ENSG00000165732 Transcript ENST00000685513.1 retained_intron - 3/12 - - - - - - - rs3898314,COSV62555204 - 1 - HGNC HGNC:2744 - - - - - Ensembl - A A - - - 0.2847 - 0,1 0,1 - - - - - - . 10:68965372-68965372 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW DDX21 ENSG00000165732 Transcript ENST00000686528.1 protein_coding - 4/13 - - - - - - - rs3898314,COSV62555204 - 1 - HGNC HGNC:2744 - - - - - Ensembl - A A - - - 0.2847 - 0,1 0,1 - - - - - - . 10:68965372-68965372 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW DDX21 ENSG00000165732 Transcript ENST00000687162.1 protein_coding_CDS_not_defined - 4/13 - - - - - - - rs3898314,COSV62555204 - 1 - HGNC HGNC:2744 - - - - - Ensembl - A A - - - 0.2847 - 0,1 0,1 - - - - - - . 10:68965372-68965372 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW DDX21 ENSG00000165732 Transcript ENST00000690316.1 protein_coding - 4/14 - - - - - - - rs3898314,COSV62555204 - 1 - HGNC HGNC:2744 - - - - - Ensembl - A A - - - 0.2847 - 0,1 0,1 - - - - - - . 10:68965372-68965372 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW DDX21 ENSG00000165732 Transcript ENST00000690650.1 protein_coding - 4/13 - - - - - - - rs3898314,COSV62555204 - 1 - HGNC HGNC:2744 - - - - - Ensembl - A A - - - 0.2847 - 0,1 0,1 - - - - - - . 10:68965372-68965372 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW DDX21 9188 Transcript NM_001256910.2 protein_coding - 4/14 - - - - - - - rs3898314,COSV62555204 - 1 - EntrezGene HGNC:2744 - - - - - RefSeq - A A - - - 0.2847 - 0,1 0,1 - - - - - - . 10:68965372-68965372 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW DDX21 9188 Transcript NM_004728.4 protein_coding - 4/14 - - - - - - - rs3898314,COSV62555204 - 1 - EntrezGene HGNC:2744 ENST00000354185.9 - - - - RefSeq - A A - - - 0.2847 - 0,1 0,1 - - - - - - . 10:68965372-68965372 G splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW DDX21 9188 Transcript XM_011540336.2 protein_coding - 4/13 - - - - - - - rs3898314,COSV62555204 - 1 - EntrezGene HGNC:2744 - - - - - RefSeq - A A - - - 0.2847 - 0,1 0,1 - - - - - - . 10:69250270-69250270 C intron_variant MODIFIER HKDC1 ENSG00000156510 Transcript ENST00000354624.6 protein_coding - 10/17 - - - - - - - rs4745978 - 1 - HGNC HGNC:23302 NM_025130.4 - 1 P1 - Ensembl - T T - - - 0.9886 - - - - - - - - - . 10:69250270-69250270 C downstream_gene_variant MODIFIER HKDC1 ENSG00000156510 Transcript ENST00000488706.1 protein_coding_CDS_not_defined - - - - - - - - - rs4745978 1315 1 - HGNC HGNC:23302 - - 3 - - Ensembl - T T - - - 0.9886 - - - - - - - - - . 10:69250270-69250270 C intron_variant MODIFIER HKDC1 80201 Transcript NM_025130.4 protein_coding - 10/17 - - - - - - - rs4745978 - 1 - EntrezGene HGNC:23302 ENST00000354624.6 - - - - RefSeq - T T - - - 0.9886 - - - - - - - - - . 10:69250270-69250270 C intron_variant MODIFIER HKDC1 80201 Transcript XM_011540195.3 protein_coding - 10/15 - - - - - - - rs4745978 - 1 - EntrezGene HGNC:23302 - - - - - RefSeq - T T - - - 0.9886 - - - - - - - - - . 10:69250270-69250270 C intron_variant MODIFIER HKDC1 80201 Transcript XM_047425784.1 protein_coding - 7/14 - - - - - - - rs4745978 - 1 - EntrezGene HGNC:23302 - - - - - RefSeq - T T - - - 0.9886 - - - - - - - - - . 10:69250270-69250270 C intron_variant,non_coding_transcript_variant MODIFIER HKDC1 80201 Transcript XR_007061989.1 misc_RNA - 10/17 - - - - - - - rs4745978 - 1 - EntrezGene HGNC:23302 - - - - - RefSeq - T T - - - 0.9886 - - - - - - - - - . 10:70109007-70109007 A downstream_gene_variant MODIFIER AIFM2 ENSG00000042286 Transcript ENST00000307864.3 protein_coding - - - - - - - - - rs2271698,COSV57159109 3264 -1 - HGNC HGNC:21411 NM_032797.6 - 1 P1 - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant MODIFIER AIFM2 ENSG00000042286 Transcript ENST00000373248.5 protein_coding - 8/8 - - - - - - - rs2271698,COSV57159109 - -1 - HGNC HGNC:21411 - - 1 P1 - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000373255.9 protein_coding - 7/8 - - - - - - - rs2271698,COSV57159109 - 1 - HGNC HGNC:14453 NM_018649.3 - 1 P1 - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000455786.1 protein_coding - 6/6 - - - - - - - rs2271698,COSV57159109 - 1 cds_end_NF HGNC HGNC:14453 - - 5 - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A downstream_gene_variant MODIFIER AIFM2 ENSG00000042286 Transcript ENST00000613322.4 protein_coding - - - - - - - - - rs2271698,COSV57159109 3263 -1 - HGNC HGNC:21411 - - 5 P1 - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant,non_coding_transcript_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000676683.1 retained_intron - 6/7 - - - - - - - rs2271698,COSV57159109 - 1 - HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000676699.1 protein_coding - 6/7 - - - - - - - rs2271698,COSV57159109 - 1 - HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000676896.1 protein_coding - 5/6 - - - - - - - rs2271698,COSV57159109 - 1 - HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A non_coding_transcript_exon_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000677268.1 retained_intron 1/2 - - - 1375 - - - - rs2271698,COSV57159109 - 1 - HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A upstream_gene_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000677557.1 protein_coding - - - - - - - - - rs2271698,COSV57159109 26 1 cds_start_NF HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000677881.1 protein_coding - 4/5 - - - - - - - rs2271698,COSV57159109 - 1 - HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant,NMD_transcript_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000677894.1 nonsense_mediated_decay - 2/3 - - - - - - - rs2271698,COSV57159109 - 1 cds_start_NF HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant,NMD_transcript_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000677954.1 nonsense_mediated_decay - 2/2 - - - - - - - rs2271698,COSV57159109 - 1 cds_start_NF HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000678191.1 protein_coding - 6/6 - - - - - - - rs2271698,COSV57159109 - 1 - HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant,non_coding_transcript_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000678214.1 retained_intron - 1/2 - - - - - - - rs2271698,COSV57159109 - 1 - HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A upstream_gene_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000678526.1 protein_coding - - - - - - - - - rs2271698,COSV57159109 26 1 cds_start_NF HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant,NMD_transcript_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000678586.1 nonsense_mediated_decay - 3/3 - - - - - - - rs2271698,COSV57159109 - 1 cds_start_NF HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant,NMD_transcript_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000678682.1 nonsense_mediated_decay - 2/3 - - - - - - - rs2271698,COSV57159109 - 1 cds_start_NF HGNC HGNC:14453 - - - - - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant MODIFIER MACROH2A2 ENSG00000099284 Transcript ENST00000679349.1 protein_coding - 8/9 - - - - - - - rs2271698,COSV57159109 - 1 - HGNC HGNC:14453 - - - P1 - Ensembl - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A downstream_gene_variant MODIFIER AIFM2 84883 Transcript NM_001198696.2 protein_coding - - - - - - - - - rs2271698,COSV57159109 3264 -1 - EntrezGene HGNC:21411 - - - - - RefSeq - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A intron_variant MODIFIER MACROH2A2 55506 Transcript NM_018649.3 protein_coding - 7/8 - - - - - - - rs2271698,COSV57159109 - 1 - EntrezGene HGNC:14453 ENST00000373255.9 - - - - RefSeq - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70109007-70109007 A downstream_gene_variant MODIFIER AIFM2 84883 Transcript NM_032797.6 protein_coding - - - - - - - - - rs2271698,COSV57159109 3264 -1 - EntrezGene HGNC:21411 ENST00000307864.3 - - - - RefSeq - G G - - - 0.4197 - 0,1 0,1 31525256 - - - - - . 10:70120434-70120434 C intron_variant MODIFIER AIFM2 ENSG00000042286 Transcript ENST00000307864.3 protein_coding - 5/8 - - - - - - - rs2280201,COSV57159383 - -1 - HGNC HGNC:21411 NM_032797.6 - 1 P1 - Ensembl - T T - - - 0.2009 - 0,1 0,1 - - - - - - . 10:70120434-70120434 C intron_variant MODIFIER AIFM2 ENSG00000042286 Transcript ENST00000373248.5 protein_coding - 4/8 - - - - - - - rs2280201,COSV57159383 - -1 - HGNC HGNC:21411 - - 1 P1 - Ensembl - T T - - - 0.2009 - 0,1 0,1 - - - - - - . 10:70120434-70120434 C upstream_gene_variant MODIFIER AIFM2 ENSG00000042286 Transcript ENST00000482166.1 protein_coding_CDS_not_defined - - - - - - - - - rs2280201,COSV57159383 2083 -1 - HGNC HGNC:21411 - - 3 - - Ensembl - T T - - - 0.2009 - 0,1 0,1 - - - - - - . 10:70120434-70120434 C intron_variant MODIFIER AIFM2 ENSG00000042286 Transcript ENST00000613322.4 protein_coding - 5/8 - - - - - - - rs2280201,COSV57159383 - -1 - HGNC HGNC:21411 - - 5 P1 - Ensembl - T T - - - 0.2009 - 0,1 0,1 - - - - - - . 10:70120434-70120434 C intron_variant MODIFIER AIFM2 84883 Transcript NM_001198696.2 protein_coding - 5/8 - - - - - - - rs2280201,COSV57159383 - -1 - EntrezGene HGNC:21411 - - - - - RefSeq - T T - - - 0.2009 - 0,1 0,1 - - - - - - . 10:70120434-70120434 C intron_variant MODIFIER AIFM2 84883 Transcript NM_032797.6 protein_coding - 5/8 - - - - - - - rs2280201,COSV57159383 - -1 - EntrezGene HGNC:21411 ENST00000307864.3 - - - - RefSeq - T T - - - 0.2009 - 0,1 0,1 - - - - - - . 10:70163872-70163872 G upstream_gene_variant MODIFIER SAR1A ENSG00000079332 Transcript ENST00000373236.1 protein_coding - - - - - - - - - - 1957 -1 - HGNC HGNC:10534 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:70163872-70163872 G upstream_gene_variant MODIFIER SAR1A ENSG00000079332 Transcript ENST00000373238.5 protein_coding - - - - - - - - - - 841 -1 - HGNC HGNC:10534 - - 2 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:70163872-70163872 G intron_variant MODIFIER SAR1A ENSG00000079332 Transcript ENST00000373239.2 protein_coding - 3/4 - - - - - - - - - -1 cds_end_NF HGNC HGNC:10534 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:70163872-70163872 G intron_variant MODIFIER SAR1A ENSG00000079332 Transcript ENST00000373241.9 protein_coding - 1/6 - - - - - - - - - -1 - HGNC HGNC:10534 NM_020150.5 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:70163872-70163872 G intron_variant MODIFIER SAR1A ENSG00000079332 Transcript ENST00000373242.6 protein_coding - 1/7 - - - - - - - - - -1 - HGNC HGNC:10534 - - 2 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:70163872-70163872 G non_coding_transcript_exon_variant MODIFIER CALM2P2 ENSG00000229097 Transcript ENST00000428512.1 processed_pseudogene 1/1 - - - 188 - - - - - - 1 - HGNC HGNC:1447 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:70163872-70163872 G upstream_gene_variant MODIFIER SAR1A ENSG00000079332 Transcript ENST00000477464.1 protein_coding_CDS_not_defined - - - - - - - - - - 1941 -1 - HGNC HGNC:10534 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:70163872-70163872 G intron_variant MODIFIER SAR1A 56681 Transcript NM_001142648.2 protein_coding - 1/7 - - - - - - - - - -1 - EntrezGene HGNC:10534 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:70163872-70163872 G intron_variant MODIFIER SAR1A 56681 Transcript NM_020150.5 protein_coding - 1/6 - - - - - - - - - -1 - EntrezGene HGNC:10534 ENST00000373241.9 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:70163930-70163930 T upstream_gene_variant MODIFIER SAR1A ENSG00000079332 Transcript ENST00000373236.1 protein_coding - - - - - - - - - rs151131756,COSV64697945 2015 -1 - HGNC HGNC:10534 - - 1 - - Ensembl - A A - - - 0.0761 - 0,1 0,1 - - - - - - . 10:70163930-70163930 T upstream_gene_variant MODIFIER SAR1A ENSG00000079332 Transcript ENST00000373238.5 protein_coding - - - - - - - - - rs151131756,COSV64697945 899 -1 - HGNC HGNC:10534 - - 2 P1 - Ensembl - A A - - - 0.0761 - 0,1 0,1 - - - - - - . 10:70163930-70163930 T intron_variant MODIFIER SAR1A ENSG00000079332 Transcript ENST00000373239.2 protein_coding - 3/4 - - - - - - - rs151131756,COSV64697945 - -1 cds_end_NF HGNC HGNC:10534 - - 3 - - Ensembl - A A - - - 0.0761 - 0,1 0,1 - - - - - - . 10:70163930-70163930 T intron_variant MODIFIER SAR1A ENSG00000079332 Transcript ENST00000373241.9 protein_coding - 1/6 - - - - - - - rs151131756,COSV64697945 - -1 - HGNC HGNC:10534 NM_020150.5 - 1 P1 - Ensembl - A A - - - 0.0761 - 0,1 0,1 - - - - - - . 10:70163930-70163930 T intron_variant MODIFIER SAR1A ENSG00000079332 Transcript ENST00000373242.6 protein_coding - 1/7 - - - - - - - rs151131756,COSV64697945 - -1 - HGNC HGNC:10534 - - 2 P1 - Ensembl - A A - - - 0.0761 - 0,1 0,1 - - - - - - . 10:70163930-70163930 T non_coding_transcript_exon_variant MODIFIER CALM2P2 ENSG00000229097 Transcript ENST00000428512.1 processed_pseudogene 1/1 - - - 246 - - - - rs151131756,COSV64697945 - 1 - HGNC HGNC:1447 - - - - - Ensembl - A A - - - 0.0761 - 0,1 0,1 - - - - - - . 10:70163930-70163930 T upstream_gene_variant MODIFIER SAR1A ENSG00000079332 Transcript ENST00000477464.1 protein_coding_CDS_not_defined - - - - - - - - - rs151131756,COSV64697945 1999 -1 - HGNC HGNC:10534 - - 2 - - Ensembl - A A - - - 0.0761 - 0,1 0,1 - - - - - - . 10:70163930-70163930 T intron_variant MODIFIER SAR1A 56681 Transcript NM_001142648.2 protein_coding - 1/7 - - - - - - - rs151131756,COSV64697945 - -1 - EntrezGene HGNC:10534 - - - - - RefSeq - A A - - - 0.0761 - 0,1 0,1 - - - - - - . 10:70163930-70163930 T intron_variant MODIFIER SAR1A 56681 Transcript NM_020150.5 protein_coding - 1/6 - - - - - - - rs151131756,COSV64697945 - -1 - EntrezGene HGNC:10534 ENST00000373241.9 - - - - RefSeq - A A - - - 0.0761 - 0,1 0,1 - - - - - - . 10:70389536-70389536 A non_coding_transcript_exon_variant MODIFIER CEP57L1P1 ENSG00000224725 Transcript ENST00000430943.1 processed_pseudogene 1/1 - - - 111 - - - - rs940840088 - 1 - HGNC HGNC:23521 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:70390332-70390332 T non_coding_transcript_exon_variant MODIFIER CEP57L1P1 ENSG00000224725 Transcript ENST00000430943.1 processed_pseudogene 1/1 - - - 907 - - - - rs541277822 - 1 - HGNC HGNC:23521 - - - - - Ensembl - G G - - - 0.0002 - - - - - - - - - . 10:70390350-70390350 C non_coding_transcript_exon_variant MODIFIER CEP57L1P1 ENSG00000224725 Transcript ENST00000430943.1 processed_pseudogene 1/1 - - - 925 - - - - rs961703562 - 1 - HGNC HGNC:23521 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000299290.5 protein_coding - 10/10 - - - - - - - rs2253793,COSV54719546 - -1 - HGNC HGNC:23511 - - 1 P4 - Ensembl - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T non_coding_transcript_exon_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000394982.2 protein_coding_CDS_not_defined 1/2 - - - 59 - - - - rs2253793,COSV54719546 - -1 - HGNC HGNC:23511 - - 3 - - Ensembl - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000456372.4 protein_coding - 10/10 - - - - - - - rs2253793,COSV54719546 - -1 - HGNC HGNC:23511 NM_001318241.2 - 1 A2 - Ensembl - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T non_coding_transcript_exon_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000685958.1 retained_intron 11/11 - - - 2433 - - - - rs2253793,COSV54719546 - -1 - HGNC HGNC:23511 - - - - - Ensembl - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T downstream_gene_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000688141.1 retained_intron - - - - - - - - - rs2253793,COSV54719546 1527 -1 - HGNC HGNC:23511 - - - - - Ensembl - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000689622.1 protein_coding - 10/10 - - - - - - - rs2253793,COSV54719546 - -1 - HGNC HGNC:23511 - - - A2 - Ensembl - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000692183.1 protein_coding - 10/10 - - - - - - - rs2253793,COSV54719546 - -1 - HGNC HGNC:23511 - - - P4 - Ensembl - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant,NMD_transcript_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000692747.1 nonsense_mediated_decay - 9/9 - - - - - - - rs2253793,COSV54719546 - -1 - HGNC HGNC:23511 - - - - - Ensembl - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T downstream_gene_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000693008.1 protein_coding_CDS_not_defined - - - - - - - - - rs2253793,COSV54719546 2908 -1 - HGNC HGNC:23511 - - - - - Ensembl - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript NM_001318241.2 protein_coding - 10/10 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 ENST00000456372.4 - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript NM_001318242.2 protein_coding - 10/10 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript NM_001318243.2 protein_coding - 10/10 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript NM_152710.4 protein_coding - 10/10 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant,non_coding_transcript_variant MODIFIER TBATA 219793 Transcript NR_134531.2 misc_RNA - 9/9 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant,non_coding_transcript_variant MODIFIER TBATA 219793 Transcript NR_134532.2 misc_RNA - 10/10 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant,non_coding_transcript_variant MODIFIER TBATA 219793 Transcript NR_134533.2 misc_RNA - 6/6 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant,non_coding_transcript_variant MODIFIER TBATA 219793 Transcript NR_134534.2 misc_RNA - 5/5 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant,non_coding_transcript_variant MODIFIER TBATA 219793 Transcript NR_165441.1 misc_RNA - 9/9 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T missense_variant MODERATE TBATA 219793 Transcript XM_017015845.2 protein_coding 12/13 - - - 1592 1226 409 R/Q cGg/cAg rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T missense_variant MODERATE TBATA 219793 Transcript XM_017015846.2 protein_coding 12/13 - - - 1592 1226 409 R/Q cGg/cAg rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript XM_017015847.2 protein_coding - 11/11 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript XM_017015848.2 protein_coding - 11/11 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript XM_017015849.2 protein_coding - 11/11 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_017015850.2 protein_coding - - - - - - - - - rs2253793,COSV54719546 2908 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_017015851.2 protein_coding - - - - - - - - - rs2253793,COSV54719546 2908 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript XM_017015852.2 protein_coding - 10/10 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript XM_017015853.2 protein_coding - 11/11 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T 3_prime_UTR_variant MODIFIER TBATA 219793 Transcript XM_017015854.2 protein_coding 12/12 - - - 1546 - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript XM_017015855.2 protein_coding - 11/11 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript XM_017015856.2 protein_coding - 11/11 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T 3_prime_UTR_variant MODIFIER TBATA 219793 Transcript XM_017015857.2 protein_coding 12/12 - - - 1497 - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript XM_017015858.2 protein_coding - 11/11 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_017015859.3 protein_coding - - - - - - - - - rs2253793,COSV54719546 293 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T intron_variant MODIFIER TBATA 219793 Transcript XM_017015860.2 protein_coding - 9/9 - - - - - - - rs2253793,COSV54719546 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_017015861.3 protein_coding - - - - - - - - - rs2253793,COSV54719546 1927 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_017015862.2 protein_coding - - - - - - - - - rs2253793,COSV54719546 4872 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_047424720.1 protein_coding - - - - - - - - - rs2253793,COSV54719546 231 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_047424721.1 protein_coding - - - - - - - - - rs2253793,COSV54719546 233 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_047424722.1 protein_coding - - - - - - - - - rs2253793,COSV54719546 1927 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772281-70772281 T downstream_gene_variant MODIFIER TBATA 219793 Transcript XR_001747058.2 misc_RNA - - - - - - - - - rs2253793,COSV54719546 4872 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - C C - - - 0.3714 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000299290.5 protein_coding - 10/10 - - - - - - - rs2253801,COSV54720639 - -1 - HGNC HGNC:23511 - - 1 P4 - Ensembl - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C upstream_gene_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000394982.2 protein_coding_CDS_not_defined - - - - - - - - - rs2253801,COSV54720639 143 -1 - HGNC HGNC:23511 - - 3 - - Ensembl - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000456372.4 protein_coding - 10/10 - - - - - - - rs2253801,COSV54720639 - -1 - HGNC HGNC:23511 NM_001318241.2 - 1 A2 - Ensembl - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant,non_coding_transcript_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000685958.1 retained_intron - 10/10 - - - - - - - rs2253801,COSV54720639 - -1 - HGNC HGNC:23511 - - - - - Ensembl - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C downstream_gene_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000688141.1 retained_intron - - - - - - - - - rs2253801,COSV54720639 1326 -1 - HGNC HGNC:23511 - - - - - Ensembl - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000689622.1 protein_coding - 10/10 - - - - - - - rs2253801,COSV54720639 - -1 - HGNC HGNC:23511 - - - A2 - Ensembl - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000692183.1 protein_coding - 10/10 - - - - - - - rs2253801,COSV54720639 - -1 - HGNC HGNC:23511 - - - P4 - Ensembl - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant,NMD_transcript_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000692747.1 nonsense_mediated_decay - 9/9 - - - - - - - rs2253801,COSV54720639 - -1 - HGNC HGNC:23511 - - - - - Ensembl - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C downstream_gene_variant MODIFIER TBATA ENSG00000166220 Transcript ENST00000693008.1 protein_coding_CDS_not_defined - - - - - - - - - rs2253801,COSV54720639 2707 -1 - HGNC HGNC:23511 - - - - - Ensembl - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript NM_001318241.2 protein_coding - 10/10 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 ENST00000456372.4 - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript NM_001318242.2 protein_coding - 10/10 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript NM_001318243.2 protein_coding - 10/10 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript NM_152710.4 protein_coding - 10/10 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant,non_coding_transcript_variant MODIFIER TBATA 219793 Transcript NR_134531.2 misc_RNA - 9/9 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant,non_coding_transcript_variant MODIFIER TBATA 219793 Transcript NR_134532.2 misc_RNA - 10/10 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant,non_coding_transcript_variant MODIFIER TBATA 219793 Transcript NR_134533.2 misc_RNA - 6/6 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant,non_coding_transcript_variant MODIFIER TBATA 219793 Transcript NR_134534.2 misc_RNA - 5/5 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant,non_coding_transcript_variant MODIFIER TBATA 219793 Transcript NR_165441.1 misc_RNA - 9/9 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015845.2 protein_coding - 11/12 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015846.2 protein_coding - 11/12 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015847.2 protein_coding - 11/11 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015848.2 protein_coding - 11/11 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015849.2 protein_coding - 11/11 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_017015850.2 protein_coding - - - - - - - - - rs2253801,COSV54720639 2707 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_017015851.2 protein_coding - - - - - - - - - rs2253801,COSV54720639 2707 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015852.2 protein_coding - 10/10 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015853.2 protein_coding - 11/11 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015854.2 protein_coding - 11/11 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015855.2 protein_coding - 11/11 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015856.2 protein_coding - 11/11 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015857.2 protein_coding - 11/11 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015858.2 protein_coding - 11/11 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_017015859.3 protein_coding - - - - - - - - - rs2253801,COSV54720639 92 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C intron_variant MODIFIER TBATA 219793 Transcript XM_017015860.2 protein_coding - 9/9 - - - - - - - rs2253801,COSV54720639 - -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_017015861.3 protein_coding - - - - - - - - - rs2253801,COSV54720639 1726 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_017015862.2 protein_coding - - - - - - - - - rs2253801,COSV54720639 4671 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_047424720.1 protein_coding - - - - - - - - - rs2253801,COSV54720639 30 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_047424721.1 protein_coding - - - - - - - - - rs2253801,COSV54720639 32 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C downstream_gene_variant MODIFIER TBATA 219793 Transcript XM_047424722.1 protein_coding - - - - - - - - - rs2253801,COSV54720639 1726 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70772482-70772482 C downstream_gene_variant MODIFIER TBATA 219793 Transcript XR_001747058.2 misc_RNA - - - - - - - - - rs2253801,COSV54720639 4671 -1 - EntrezGene HGNC:23511 - - - - - RefSeq - T T - - - 0.4481 - 0,1 0,1 - - - - - - . 10:70794128-70794128 T downstream_gene_variant MODIFIER RPS26P40 ENSG00000231366 Transcript ENST00000435209.1 processed_pseudogene - - - - - - - - - rs12217779 102 -1 - HGNC HGNC:36906 - - - - - Ensembl - C C - - - 0.3081 - - - - - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 ENSG00000166224 Transcript ENST00000373202.8 protein_coding - 14/14 - - - - - - - rs923177,COSV64592341 - 1 - HGNC HGNC:10817 NM_003901.4 - 1 P1 - Ensembl - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G downstream_gene_variant MODIFIER SGPL1 ENSG00000166224 Transcript ENST00000620724.4 protein_coding_CDS_not_defined - - - - - - - - - rs923177,COSV64592341 4813 1 - HGNC HGNC:10817 - - 5 - - Ensembl - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant,non_coding_transcript_variant MODIFIER SGPL1 ENSG00000166224 Transcript ENST00000697924.1 retained_intron - 14/14 - - - - - - - rs923177,COSV64592341 - 1 - HGNC HGNC:10817 - - - - - Ensembl - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant,NMD_transcript_variant MODIFIER SGPL1 ENSG00000166224 Transcript ENST00000697925.1 nonsense_mediated_decay - 15/15 - - - - - - - rs923177,COSV64592341 - 1 - HGNC HGNC:10817 - - - - - Ensembl - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 ENSG00000166224 Transcript ENST00000697926.1 protein_coding - 15/15 - - - - - - - rs923177,COSV64592341 - 1 - HGNC HGNC:10817 - - - - - Ensembl - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 ENSG00000166224 Transcript ENST00000697927.1 protein_coding - 13/13 - - - - - - - rs923177,COSV64592341 - 1 - HGNC HGNC:10817 - - - - - Ensembl - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 ENSG00000166224 Transcript ENST00000697928.1 protein_coding - 14/14 - - - - - - - rs923177,COSV64592341 - 1 - HGNC HGNC:10817 - - - P1 - Ensembl - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 ENSG00000166224 Transcript ENST00000697930.1 protein_coding - 13/13 - - - - - - - rs923177,COSV64592341 - 1 - HGNC HGNC:10817 - - - - - Ensembl - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 ENSG00000166224 Transcript ENST00000697931.1 protein_coding - 14/14 - - - - - - - rs923177,COSV64592341 - 1 - HGNC HGNC:10817 - - - P1 - Ensembl - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 ENSG00000166224 Transcript ENST00000697932.1 protein_coding - 14/14 - - - - - - - rs923177,COSV64592341 - 1 - HGNC HGNC:10817 - - - P1 - Ensembl - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 ENSG00000166224 Transcript ENST00000697988.1 protein_coding - 8/8 - - - - - - - rs923177,COSV64592341 - 1 - HGNC HGNC:10817 - - - - - Ensembl - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant,NMD_transcript_variant MODIFIER SGPL1 ENSG00000166224 Transcript ENST00000697989.1 nonsense_mediated_decay - 14/14 - - - - - - - rs923177,COSV64592341 - 1 - HGNC HGNC:10817 - - - - - Ensembl - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 8879 Transcript NM_003901.4 protein_coding - 14/14 - - - - - - - rs923177,COSV64592341 - 1 - EntrezGene HGNC:10817 ENST00000373202.8 - - - - RefSeq - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 8879 Transcript XM_005270263.2 protein_coding - 14/14 - - - - - - - rs923177,COSV64592341 - 1 - EntrezGene HGNC:10817 - - - - - RefSeq - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 8879 Transcript XM_011540316.3 protein_coding - 14/14 - - - - - - - rs923177,COSV64592341 - 1 - EntrezGene HGNC:10817 - - - - - RefSeq - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 8879 Transcript XM_011540317.2 protein_coding - 14/14 - - - - - - - rs923177,COSV64592341 - 1 - EntrezGene HGNC:10817 - - - - - RefSeq - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 8879 Transcript XM_011540318.2 protein_coding - 13/13 - - - - - - - rs923177,COSV64592341 - 1 - EntrezGene HGNC:10817 - - - - - RefSeq - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G intron_variant MODIFIER SGPL1 8879 Transcript XM_047425981.1 protein_coding - 14/14 - - - - - - - rs923177,COSV64592341 - 1 - EntrezGene HGNC:10817 - - - - - RefSeq - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:70876693-70876693 G downstream_gene_variant MODIFIER SGPL1 8879 Transcript XM_047425982.1 protein_coding - - - - - - - - - rs923177,COSV64592341 59 1 - EntrezGene HGNC:10817 - - - - - RefSeq - T T - - - 0.7654 benign 0,1 1,1 21283782 - - - - - . 10:71362156-71362156 G missense_variant MODERATE SLC29A3 ENSG00000198246 Transcript ENST00000373189.6 protein_coding 6/6 - - - 1027 976 326 I/V Atc/Gtc rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 NM_018344.6 - 1 P1 - Ensembl - A A - tolerated(0.91) benign(0.03) 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G non_coding_transcript_exon_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000469204.1 protein_coding_CDS_not_defined 3/3 - - - 473 - - - - rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 - - 2 - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G missense_variant MODERATE SLC29A3 ENSG00000198246 Transcript ENST00000479577.2 protein_coding 6/6 - - - 1425 742 248 I/V Atc/Gtc rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 - - 2 - - Ensembl - A A - tolerated(0.97) benign(0.03) 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G upstream_gene_variant MODIFIER - ENSG00000279406 Transcript ENST00000623796.1 TEC - - - - - - - - - rs2487068,COSV64386549 2087 1 - - - - - - - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000642198.1 nonsense_mediated_decay 6/6 - - - 1521 - - - - rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 - - - - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G intron_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000642772.1 nonsense_mediated_decay - 3/4 - - - - - - - rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 - - - - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000643042.1 nonsense_mediated_decay 3/4 - - - 597 - - - - rs2487068,COSV64386549 - 1 cds_start_NF HGNC HGNC:23096 - - - - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000643619.1 nonsense_mediated_decay 7/7 - - - 1293 - - - - rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 - - - - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000643752.1 nonsense_mediated_decay 5/6 - - - 794 - - - - rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 - - - - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000644088.1 nonsense_mediated_decay 4/4 - - - 693 - - - - rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 - - - - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000644591.1 nonsense_mediated_decay 5/5 - - - 941 - - - - rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 - - - - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G intron_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000644895.1 nonsense_mediated_decay - 4/5 - - - - - - - rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 - - - - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000645345.1 nonsense_mediated_decay 6/6 - - - 1170 - - - - rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 - - - - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000647524.1 nonsense_mediated_decay 7/7 - - - 1256 - - - - rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 - - - - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G non_coding_transcript_exon_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000697843.1 retained_intron 6/6 - - - 2452 - - - - rs2487068,COSV64386549 - 1 - HGNC HGNC:23096 - - - - - Ensembl - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G 3_prime_UTR_variant MODIFIER SLC29A3 55315 Transcript NM_001174098.2 protein_coding 6/6 - - - 1033 - - - - rs2487068,COSV64386549 - 1 - EntrezGene HGNC:23096 - - - - - RefSeq - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G missense_variant MODERATE SLC29A3 55315 Transcript NM_001363518.2 protein_coding 6/6 - - - 1448 742 248 I/V Atc/Gtc rs2487068,COSV64386549 - 1 - EntrezGene HGNC:23096 - - - - - RefSeq - A A - tolerated(0.97) benign(0.03) 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G missense_variant MODERATE SLC29A3 55315 Transcript NM_018344.6 protein_coding 6/6 - - - 1027 976 326 I/V Atc/Gtc rs2487068,COSV64386549 - 1 - EntrezGene HGNC:23096 ENST00000373189.6 - - - - RefSeq - A A - tolerated(0.91) benign(0.03) 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G non_coding_transcript_exon_variant MODIFIER SLC29A3 55315 Transcript NR_033413.2 misc_RNA 5/5 - - - 944 - - - - rs2487068,COSV64386549 - 1 - EntrezGene HGNC:23096 - - - - - RefSeq - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G non_coding_transcript_exon_variant MODIFIER SLC29A3 55315 Transcript NR_033414.2 misc_RNA 4/4 - - - 717 - - - - rs2487068,COSV64386549 - 1 - EntrezGene HGNC:23096 - - - - - RefSeq - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G intron_variant MODIFIER SLC29A3 55315 Transcript XM_047425424.1 protein_coding - 5/5 - - - - - - - rs2487068,COSV64386549 - 1 - EntrezGene HGNC:23096 - - - - - RefSeq - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362156-71362156 G intron_variant MODIFIER SLC29A3 55315 Transcript XM_047425425.1 protein_coding - 5/6 - - - - - - - rs2487068,COSV64386549 - 1 - EntrezGene HGNC:23096 - - - - - RefSeq - A A - - - 0.7927 benign/likely_benign,benign 0,1 1,1 16385451 - - - - - . 10:71362188-71362188 C synonymous_variant LOW SLC29A3 ENSG00000198246 Transcript ENST00000373189.6 protein_coding 6/6 - - - 1059 1008 336 G ggT/ggC rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 NM_018344.6 - 1 P1 - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C non_coding_transcript_exon_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000469204.1 protein_coding_CDS_not_defined 3/3 - - - 505 - - - - rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 - - 2 - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C synonymous_variant LOW SLC29A3 ENSG00000198246 Transcript ENST00000479577.2 protein_coding 6/6 - - - 1457 774 258 G ggT/ggC rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 - - 2 - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C upstream_gene_variant MODIFIER - ENSG00000279406 Transcript ENST00000623796.1 TEC - - - - - - - - - rs1084004,COSV64385266 2055 1 - - - - - - - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000642198.1 nonsense_mediated_decay 6/6 - - - 1553 - - - - rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 - - - - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C intron_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000642772.1 nonsense_mediated_decay - 3/4 - - - - - - - rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 - - - - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000643042.1 nonsense_mediated_decay 3/4 - - - 629 - - - - rs1084004,COSV64385266 - 1 cds_start_NF HGNC HGNC:23096 - - - - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000643619.1 nonsense_mediated_decay 7/7 - - - 1325 - - - - rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 - - - - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000643752.1 nonsense_mediated_decay 5/6 - - - 826 - - - - rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 - - - - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000644088.1 nonsense_mediated_decay 4/4 - - - 725 - - - - rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 - - - - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000644591.1 nonsense_mediated_decay 5/5 - - - 973 - - - - rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 - - - - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C intron_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000644895.1 nonsense_mediated_decay - 4/5 - - - - - - - rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 - - - - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000645345.1 nonsense_mediated_decay 6/6 - - - 1202 - - - - rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 - - - - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000647524.1 nonsense_mediated_decay 7/7 - - - 1288 - - - - rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 - - - - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C non_coding_transcript_exon_variant MODIFIER SLC29A3 ENSG00000198246 Transcript ENST00000697843.1 retained_intron 6/6 - - - 2484 - - - - rs1084004,COSV64385266 - 1 - HGNC HGNC:23096 - - - - - Ensembl - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C 3_prime_UTR_variant MODIFIER SLC29A3 55315 Transcript NM_001174098.2 protein_coding 6/6 - - - 1065 - - - - rs1084004,COSV64385266 - 1 - EntrezGene HGNC:23096 - - - - - RefSeq - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C synonymous_variant LOW SLC29A3 55315 Transcript NM_001363518.2 protein_coding 6/6 - - - 1480 774 258 G ggT/ggC rs1084004,COSV64385266 - 1 - EntrezGene HGNC:23096 - - - - - RefSeq - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C synonymous_variant LOW SLC29A3 55315 Transcript NM_018344.6 protein_coding 6/6 - - - 1059 1008 336 G ggT/ggC rs1084004,COSV64385266 - 1 - EntrezGene HGNC:23096 ENST00000373189.6 - - - - RefSeq - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C non_coding_transcript_exon_variant MODIFIER SLC29A3 55315 Transcript NR_033413.2 misc_RNA 5/5 - - - 976 - - - - rs1084004,COSV64385266 - 1 - EntrezGene HGNC:23096 - - - - - RefSeq - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C non_coding_transcript_exon_variant MODIFIER SLC29A3 55315 Transcript NR_033414.2 misc_RNA 4/4 - - - 749 - - - - rs1084004,COSV64385266 - 1 - EntrezGene HGNC:23096 - - - - - RefSeq - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C intron_variant MODIFIER SLC29A3 55315 Transcript XM_047425424.1 protein_coding - 5/5 - - - - - - - rs1084004,COSV64385266 - 1 - EntrezGene HGNC:23096 - - - - - RefSeq - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:71362188-71362188 C intron_variant MODIFIER SLC29A3 55315 Transcript XM_047425425.1 protein_coding - 5/6 - - - - - - - rs1084004,COSV64385266 - 1 - EntrezGene HGNC:23096 - - - - - RefSeq - T T - - - 0.7538 benign,likely_benign 0,1 1,1 23251661 - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000317126.8 protein_coding - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - HGNC HGNC:24268 - - 2 P1 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000317168.11 protein_coding - 5/7 - - - - - - - rs947979551,COSV57727365 - -1 - HGNC HGNC:24268 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000342444.8 protein_coding - 6/12 - - - - - - - rs947979551,COSV57727365 - -1 - HGNC HGNC:24268 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000394915.7 protein_coding - 6/11 - - - - - - - rs947979551,COSV57727365 - -1 - HGNC HGNC:24268 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T non_coding_transcript_exon_variant MODIFIER RPL15P14 ENSG00000226701 Transcript ENST00000416278.1 processed_pseudogene 1/1 - - - 433 - - - - rs947979551,COSV57727365 - 1 - HGNC HGNC:36487 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant,NMD_transcript_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000461369.6 nonsense_mediated_decay - 4/4 - - - - - - - rs947979551,COSV57727365 - -1 cds_start_NF HGNC HGNC:24268 - - 3 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000486689.6 protein_coding - 3/8 - - - - - - - rs947979551,COSV57727365 - -1 cds_start_NF HGNC HGNC:24268 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000525286.6 protein_coding - 1/5 - - - - - - - rs947979551,COSV57727365 - -1 cds_start_NF,cds_end_NF HGNC HGNC:24268 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000531048.5 protein_coding - 2/2 - - - - - - - rs947979551,COSV57727365 - -1 cds_end_NF HGNC HGNC:24268 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant,NMD_transcript_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000671788.1 nonsense_mediated_decay - 5/10 - - - - - - - rs947979551,COSV57727365 - -1 - HGNC HGNC:24268 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000672121.1 protein_coding - 2/5 - - - - - - - rs947979551,COSV57727365 - -1 cds_start_NF HGNC HGNC:24268 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000672774.1 protein_coding - 5/10 - - - - - - - rs947979551,COSV57727365 - -1 - HGNC HGNC:24268 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000672940.1 protein_coding - 5/8 - - - - - - - rs947979551,COSV57727365 - -1 - HGNC HGNC:24268 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000672957.1 protein_coding - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - HGNC HGNC:24268 NM_001198800.3 - - P1 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant,NMD_transcript_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000673599.1 nonsense_mediated_decay - 6/10 - - - - - - - rs947979551,COSV57727365 - -1 - HGNC HGNC:24268 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001198798.2 protein_coding - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001198799.3 protein_coding - 6/12 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001198800.3 protein_coding - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 ENST00000672957.1 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369085.1 protein_coding - 5/11 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369086.1 protein_coding - 5/10 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369087.1 protein_coding - 5/11 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369088.1 protein_coding - 5/11 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369089.1 protein_coding - 5/11 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369090.1 protein_coding - 5/10 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369091.1 protein_coding - 5/10 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369092.1 protein_coding - 5/10 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369093.1 protein_coding - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369094.1 protein_coding - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369095.1 protein_coding - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369096.1 protein_coding - 5/10 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369097.1 protein_coding - 5/10 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369098.1 protein_coding - 5/10 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369099.1 protein_coding - 5/8 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369100.1 protein_coding - 5/10 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369101.1 protein_coding - 6/11 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369102.1 protein_coding - 6/11 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369103.1 protein_coding - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369104.1 protein_coding - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369105.1 protein_coding - 6/10 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369106.1 protein_coding - 6/10 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369107.1 protein_coding - 6/10 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369108.1 protein_coding - 5/8 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369109.1 protein_coding - 5/8 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369110.1 protein_coding - 5/8 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369111.1 protein_coding - 5/8 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript NM_001369112.1 protein_coding - 5/7 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant,non_coding_transcript_variant MODIFIER ASCC1 51008 Transcript NR_045564.1 misc_RNA - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript XM_024448032.2 protein_coding - 5/10 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript XM_047425256.1 protein_coding - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript XM_047425257.1 protein_coding - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript XM_047425258.1 protein_coding - 5/9 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript XM_047425259.1 protein_coding - 5/8 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190373-72190373 T intron_variant MODIFIER ASCC1 51008 Transcript XM_047425261.1 protein_coding - 5/7 - - - - - - - rs947979551,COSV57727365 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000317126.8 protein_coding - 5/9 - - - - - - - COSV57728256 - -1 - HGNC HGNC:24268 - - 2 P1 - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000317168.11 protein_coding - 5/7 - - - - - - - COSV57728256 - -1 - HGNC HGNC:24268 - - 2 - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000342444.8 protein_coding - 6/12 - - - - - - - COSV57728256 - -1 - HGNC HGNC:24268 - - 2 - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000394915.7 protein_coding - 6/11 - - - - - - - COSV57728256 - -1 - HGNC HGNC:24268 - - 5 - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G non_coding_transcript_exon_variant MODIFIER RPL15P14 ENSG00000226701 Transcript ENST00000416278.1 processed_pseudogene 1/1 - - - 492 - - - - COSV57728256 - 1 - HGNC HGNC:36487 - - - - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant,NMD_transcript_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000461369.6 nonsense_mediated_decay - 4/4 - - - - - - - COSV57728256 - -1 cds_start_NF HGNC HGNC:24268 - - 3 - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000486689.6 protein_coding - 3/8 - - - - - - - COSV57728256 - -1 cds_start_NF HGNC HGNC:24268 - - 5 - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000525286.6 protein_coding - 1/5 - - - - - - - COSV57728256 - -1 cds_start_NF,cds_end_NF HGNC HGNC:24268 - - 5 - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000531048.5 protein_coding - 2/2 - - - - - - - COSV57728256 - -1 cds_end_NF HGNC HGNC:24268 - - 5 - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant,NMD_transcript_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000671788.1 nonsense_mediated_decay - 5/10 - - - - - - - COSV57728256 - -1 - HGNC HGNC:24268 - - - - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000672121.1 protein_coding - 2/5 - - - - - - - COSV57728256 - -1 cds_start_NF HGNC HGNC:24268 - - - - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000672774.1 protein_coding - 5/10 - - - - - - - COSV57728256 - -1 - HGNC HGNC:24268 - - - - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000672940.1 protein_coding - 5/8 - - - - - - - COSV57728256 - -1 - HGNC HGNC:24268 - - - - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000672957.1 protein_coding - 5/9 - - - - - - - COSV57728256 - -1 - HGNC HGNC:24268 NM_001198800.3 - - P1 - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant,NMD_transcript_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000673599.1 nonsense_mediated_decay - 6/10 - - - - - - - COSV57728256 - -1 - HGNC HGNC:24268 - - - - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001198798.2 protein_coding - 5/9 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001198799.3 protein_coding - 6/12 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001198800.3 protein_coding - 5/9 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 ENST00000672957.1 - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369085.1 protein_coding - 5/11 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369086.1 protein_coding - 5/10 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369087.1 protein_coding - 5/11 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369088.1 protein_coding - 5/11 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369089.1 protein_coding - 5/11 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369090.1 protein_coding - 5/10 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369091.1 protein_coding - 5/10 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369092.1 protein_coding - 5/10 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369093.1 protein_coding - 5/9 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369094.1 protein_coding - 5/9 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369095.1 protein_coding - 5/9 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369096.1 protein_coding - 5/10 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369097.1 protein_coding - 5/10 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369098.1 protein_coding - 5/10 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369099.1 protein_coding - 5/8 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369100.1 protein_coding - 5/10 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369101.1 protein_coding - 6/11 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369102.1 protein_coding - 6/11 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369103.1 protein_coding - 5/9 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369104.1 protein_coding - 5/9 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369105.1 protein_coding - 6/10 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369106.1 protein_coding - 6/10 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369107.1 protein_coding - 6/10 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369108.1 protein_coding - 5/8 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369109.1 protein_coding - 5/8 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369110.1 protein_coding - 5/8 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369111.1 protein_coding - 5/8 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript NM_001369112.1 protein_coding - 5/7 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant,non_coding_transcript_variant MODIFIER ASCC1 51008 Transcript NR_045564.1 misc_RNA - 5/9 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript XM_024448032.2 protein_coding - 5/10 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript XM_047425256.1 protein_coding - 5/9 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript XM_047425257.1 protein_coding - 5/9 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript XM_047425258.1 protein_coding - 5/9 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript XM_047425259.1 protein_coding - 5/8 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72190432-72190432 G intron_variant MODIFIER ASCC1 51008 Transcript XM_047425261.1 protein_coding - 5/7 - - - - - - - COSV57728256 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000317126.8 protein_coding - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - HGNC HGNC:24268 - - 2 P1 - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000317168.11 protein_coding - 3/7 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - HGNC HGNC:24268 - - 2 - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C stop_gained HIGH ASCC1 ENSG00000138303 Transcript ENST00000342444.8 protein_coding 4/13 - - - 335 233 78 S/* tCa/tGa rs11000217,CM1511494,COSV57728881 - -1 - HGNC HGNC:24268 - - 2 - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C stop_gained HIGH ASCC1 ENSG00000138303 Transcript ENST00000394915.7 protein_coding 4/12 - - - 540 233 78 S/* tCa/tGa rs11000217,CM1511494,COSV57728881 - -1 - HGNC HGNC:24268 - - 5 - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C stop_gained,NMD_transcript_variant HIGH ASCC1 ENSG00000138303 Transcript ENST00000461369.6 nonsense_mediated_decay 1/5 - - - 21 23 8 S/* tCa/tGa rs11000217,CM1511494,COSV57728881 - -1 cds_start_NF HGNC HGNC:24268 - - 3 - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000486689.6 protein_coding - 1/8 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 cds_start_NF HGNC HGNC:24268 - - 5 - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant,NMD_transcript_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000492502.2 nonsense_mediated_decay - 4/4 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - HGNC HGNC:24268 - - 3 - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000524829.5 protein_coding - 4/5 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 cds_end_NF HGNC HGNC:24268 - - 4 - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000526751.5 protein_coding - 3/3 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 cds_end_NF HGNC HGNC:24268 - - 4 - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000527593.5 protein_coding - 3/4 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 cds_end_NF HGNC HGNC:24268 - - 4 - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000530461.5 protein_coding - 3/4 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 cds_end_NF HGNC HGNC:24268 - - 4 - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000531048.5 protein_coding - 1/2 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 cds_end_NF HGNC HGNC:24268 - - 5 - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant,NMD_transcript_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000532011.5 nonsense_mediated_decay - 4/5 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - HGNC HGNC:24268 - - 4 - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant,NMD_transcript_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000671788.1 nonsense_mediated_decay - 3/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - HGNC HGNC:24268 - - - - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C upstream_gene_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000672121.1 protein_coding - - - - - - - - - rs11000217,CM1511494,COSV57728881 962 -1 cds_start_NF HGNC HGNC:24268 - - - - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000672774.1 protein_coding - 3/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - HGNC HGNC:24268 - - - - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000672940.1 protein_coding - 3/8 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - HGNC HGNC:24268 - - - - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000672957.1 protein_coding - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - HGNC HGNC:24268 NM_001198800.3 - - P1 - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant,NMD_transcript_variant MODIFIER ASCC1 ENSG00000138303 Transcript ENST00000673599.1 nonsense_mediated_decay - 4/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - HGNC HGNC:24268 - - - - - Ensembl - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001198798.2 protein_coding - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C stop_gained HIGH ASCC1 51008 Transcript NM_001198799.3 protein_coding 4/13 - - - 336 233 78 S/* tCa/tGa rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001198800.3 protein_coding - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 ENST00000672957.1 - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369085.1 protein_coding - 3/11 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369086.1 protein_coding - 3/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369087.1 protein_coding - 3/11 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369088.1 protein_coding - 3/11 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369089.1 protein_coding - 3/11 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369090.1 protein_coding - 3/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369091.1 protein_coding - 3/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369092.1 protein_coding - 3/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369093.1 protein_coding - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369094.1 protein_coding - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369095.1 protein_coding - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369096.1 protein_coding - 3/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369097.1 protein_coding - 3/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369098.1 protein_coding - 3/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369099.1 protein_coding - 3/8 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369100.1 protein_coding - 3/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369101.1 protein_coding - 4/11 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369102.1 protein_coding - 4/11 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369103.1 protein_coding - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369104.1 protein_coding - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369105.1 protein_coding - 4/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369106.1 protein_coding - 4/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369107.1 protein_coding - 4/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369108.1 protein_coding - 3/8 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369109.1 protein_coding - 3/8 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369110.1 protein_coding - 3/8 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369111.1 protein_coding - 3/8 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript NM_001369112.1 protein_coding - 3/7 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant,non_coding_transcript_variant MODIFIER ASCC1 51008 Transcript NR_045564.1 misc_RNA - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript XM_024448032.2 protein_coding - 3/10 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript XM_047425256.1 protein_coding - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript XM_047425257.1 protein_coding - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript XM_047425258.1 protein_coding - 3/9 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript XM_047425259.1 protein_coding - 3/8 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72204485-72204485 C intron_variant MODIFIER ASCC1 51008 Transcript XM_047425261.1 protein_coding - 3/7 - - - - - - - rs11000217,CM1511494,COSV57728881 - -1 - EntrezGene HGNC:24268 - - - - - RefSeq - G G - - - 0.1164 benign 0,0,1 1,1,1 26924529 - - - - - . 10:72423159-72423159 C intron_variant MODIFIER MICU1 ENSG00000107745 Transcript ENST00000361114.10 protein_coding - 9/11 - - - - - - - rs10823922 - -1 - HGNC HGNC:1530 NM_001195518.2 - 1 P4 - Ensembl - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C intron_variant MODIFIER MICU1 ENSG00000107745 Transcript ENST00000398763.8 protein_coding - 6/8 - - - - - - - rs10823922 - -1 - HGNC HGNC:1530 - - 2 - - Ensembl - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C intron_variant MODIFIER MICU1 ENSG00000107745 Transcript ENST00000418483.6 protein_coding - 4/6 - - - - - - - rs10823922 - -1 - HGNC HGNC:1530 - - 2 - - Ensembl - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C intron_variant,NMD_transcript_variant MODIFIER MICU1 ENSG00000107745 Transcript ENST00000476605.7 nonsense_mediated_decay - 6/9 - - - - - - - rs10823922 - -1 cds_start_NF HGNC HGNC:1530 - - 2 - - Ensembl - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C downstream_gene_variant MODIFIER MICU1 ENSG00000107745 Transcript ENST00000489666.2 protein_coding - - - - - - - - - rs10823922 89 -1 cds_end_NF HGNC HGNC:1530 - - 4 - - Ensembl - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C intron_variant MODIFIER MICU1 ENSG00000107745 Transcript ENST00000635239.1 protein_coding - 10/12 - - - - - - - rs10823922 - -1 - HGNC HGNC:1530 - - 5 A1 - Ensembl - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C intron_variant MODIFIER MICU1 ENSG00000107745 Transcript ENST00000642044.1 protein_coding - 11/13 - - - - - - - rs10823922 - -1 - HGNC HGNC:1530 - - - A1 - Ensembl - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C intron_variant MODIFIER MICU1 10367 Transcript NM_001195518.2 protein_coding - 9/11 - - - - - - - rs10823922 - -1 - EntrezGene HGNC:1530 ENST00000361114.10 - - - - RefSeq - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C intron_variant MODIFIER MICU1 10367 Transcript NM_001195519.2 protein_coding - 4/6 - - - - - - - rs10823922 - -1 - EntrezGene HGNC:1530 - - - - - RefSeq - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C intron_variant MODIFIER MICU1 10367 Transcript NM_001363513.2 protein_coding - 11/13 - - - - - - - rs10823922 - -1 - EntrezGene HGNC:1530 - - - - - RefSeq - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C intron_variant MODIFIER MICU1 10367 Transcript NM_006077.4 protein_coding - 10/12 - - - - - - - rs10823922 - -1 - EntrezGene HGNC:1530 - - - - - RefSeq - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C intron_variant MODIFIER MICU1 10367 Transcript XM_011539119.2 protein_coding - 10/12 - - - - - - - rs10823922 - -1 - EntrezGene HGNC:1530 - - - - - RefSeq - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C intron_variant MODIFIER MICU1 10367 Transcript XM_047424440.1 protein_coding - 10/11 - - - - - - - rs10823922 - -1 - EntrezGene HGNC:1530 - - - - - RefSeq - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72423159-72423159 C intron_variant MODIFIER MICU1 10367 Transcript XM_047424441.1 protein_coding - 9/10 - - - - - - - rs10823922 - -1 - EntrezGene HGNC:1530 - - - - - RefSeq - T T - - - 0.3754 benign - 1 20150382 - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MICU1 ENSG00000107745 Transcript ENST00000361114.10 protein_coding - 5/11 - - - - - - - rs3793927 - -1 - HGNC HGNC:1530 NM_001195518.2 - 1 P4 - Ensembl - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MICU1 ENSG00000107745 Transcript ENST00000398763.8 protein_coding - 1/8 - - - - - - - rs3793927 - -1 - HGNC HGNC:1530 - - 2 - - Ensembl - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C intron_variant MODIFIER MICU1 ENSG00000107745 Transcript ENST00000418483.6 protein_coding - 1/6 - - - - - - - rs3793927 - -1 - HGNC HGNC:1530 - - 2 - - Ensembl - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW MICU1 ENSG00000107745 Transcript ENST00000476605.7 nonsense_mediated_decay - 2/9 - - - - - - - rs3793927 - -1 cds_start_NF HGNC HGNC:1530 - - 2 - - Ensembl - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C intron_variant MODIFIER MICU1 ENSG00000107745 Transcript ENST00000489666.2 protein_coding - 1/3 - - - - - - - rs3793927 - -1 cds_end_NF HGNC HGNC:1530 - - 4 - - Ensembl - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MICU1 ENSG00000107745 Transcript ENST00000603011.5 protein_coding - 5/6 - - - - - - - rs3793927 - -1 cds_end_NF HGNC HGNC:1530 - - 5 - - Ensembl - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MICU1 ENSG00000107745 Transcript ENST00000604238.2 protein_coding - 7/9 - - - - - - - rs3793927 - -1 cds_end_NF HGNC HGNC:1530 - - 5 - - Ensembl - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C non_coding_transcript_exon_variant MODIFIER MICU1 ENSG00000107745 Transcript ENST00000604529.1 retained_intron 1/2 - - - 353 - - - - rs3793927 - -1 - HGNC HGNC:1530 - - 4 - - Ensembl - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MICU1 ENSG00000107745 Transcript ENST00000635239.1 protein_coding - 6/12 - - - - - - - rs3793927 - -1 - HGNC HGNC:1530 - - 5 A1 - Ensembl - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MICU1 ENSG00000107745 Transcript ENST00000642044.1 protein_coding - 7/13 - - - - - - - rs3793927 - -1 - HGNC HGNC:1530 - - - A1 - Ensembl - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MICU1 10367 Transcript NM_001195518.2 protein_coding - 5/11 - - - - - - - rs3793927 - -1 - EntrezGene HGNC:1530 ENST00000361114.10 - - - - RefSeq - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C intron_variant MODIFIER MICU1 10367 Transcript NM_001195519.2 protein_coding - 1/6 - - - - - - - rs3793927 - -1 - EntrezGene HGNC:1530 - - - - - RefSeq - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MICU1 10367 Transcript NM_001363513.2 protein_coding - 7/13 - - - - - - - rs3793927 - -1 - EntrezGene HGNC:1530 - - - - - RefSeq - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MICU1 10367 Transcript NM_006077.4 protein_coding - 6/12 - - - - - - - rs3793927 - -1 - EntrezGene HGNC:1530 - - - - - RefSeq - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MICU1 10367 Transcript XM_011539119.2 protein_coding - 6/12 - - - - - - - rs3793927 - -1 - EntrezGene HGNC:1530 - - - - - RefSeq - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MICU1 10367 Transcript XM_047424440.1 protein_coding - 6/11 - - - - - - - rs3793927 - -1 - EntrezGene HGNC:1530 - - - - - RefSeq - T T - - - 0.2979 benign - 1 - - - - - - . 10:72508273-72508273 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW MICU1 10367 Transcript XM_047424441.1 protein_coding - 5/10 - - - - - - - rs3793927 - -1 - EntrezGene HGNC:1530 - - - - - RefSeq - T T - - - 0.2979 benign - 1 - - - - - - . 10:72917601-72917601 C intron_variant MODIFIER OIT3 ENSG00000138315 Transcript ENST00000334011.10 protein_coding - 6/8 - - - - - - - - - 1 - HGNC HGNC:29953 NM_152635.3 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:72917601-72917601 C downstream_gene_variant MODIFIER NPM1P24 ENSG00000215086 Transcript ENST00000428039.1 processed_pseudogene - - - - - - - - - - 40 -1 - HGNC HGNC:45097 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:72917601-72917601 C intron_variant MODIFIER OIT3 ENSG00000138315 Transcript ENST00000622652.1 protein_coding - 6/7 - - - - - - - - - 1 - HGNC HGNC:29953 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:72917601-72917601 C intron_variant MODIFIER OIT3 170392 Transcript NM_152635.3 protein_coding - 6/8 - - - - - - - - - 1 - EntrezGene HGNC:29953 ENST00000334011.10 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:72917601-72917601 C intron_variant,non_coding_transcript_variant MODIFIER OIT3 170392 Transcript NR_130125.2 misc_RNA - 6/7 - - - - - - - - - 1 - EntrezGene HGNC:29953 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:72917745-72917745 C intron_variant MODIFIER OIT3 ENSG00000138315 Transcript ENST00000334011.10 protein_coding - 6/8 - - - - - - - - - 1 - HGNC HGNC:29953 NM_152635.3 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:72917745-72917745 C non_coding_transcript_exon_variant MODIFIER NPM1P24 ENSG00000215086 Transcript ENST00000428039.1 processed_pseudogene 1/1 - - - 790 - - - - - - -1 - HGNC HGNC:45097 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:72917745-72917745 C intron_variant MODIFIER OIT3 ENSG00000138315 Transcript ENST00000622652.1 protein_coding - 6/7 - - - - - - - - - 1 - HGNC HGNC:29953 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:72917745-72917745 C intron_variant MODIFIER OIT3 170392 Transcript NM_152635.3 protein_coding - 6/8 - - - - - - - - - 1 - EntrezGene HGNC:29953 ENST00000334011.10 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:72917745-72917745 C intron_variant,non_coding_transcript_variant MODIFIER OIT3 170392 Transcript NR_130125.2 misc_RNA - 6/7 - - - - - - - - - 1 - EntrezGene HGNC:29953 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:72917757-72917757 A intron_variant MODIFIER OIT3 ENSG00000138315 Transcript ENST00000334011.10 protein_coding - 6/8 - - - - - - - rs878951539 - 1 - HGNC HGNC:29953 NM_152635.3 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:72917757-72917757 A non_coding_transcript_exon_variant MODIFIER NPM1P24 ENSG00000215086 Transcript ENST00000428039.1 processed_pseudogene 1/1 - - - 778 - - - - rs878951539 - -1 - HGNC HGNC:45097 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:72917757-72917757 A intron_variant MODIFIER OIT3 ENSG00000138315 Transcript ENST00000622652.1 protein_coding - 6/7 - - - - - - - rs878951539 - 1 - HGNC HGNC:29953 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:72917757-72917757 A intron_variant MODIFIER OIT3 170392 Transcript NM_152635.3 protein_coding - 6/8 - - - - - - - rs878951539 - 1 - EntrezGene HGNC:29953 ENST00000334011.10 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:72917757-72917757 A intron_variant,non_coding_transcript_variant MODIFIER OIT3 170392 Transcript NR_130125.2 misc_RNA - 6/7 - - - - - - - rs878951539 - 1 - EntrezGene HGNC:29953 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:72917906-72917906 G intron_variant MODIFIER OIT3 ENSG00000138315 Transcript ENST00000334011.10 protein_coding - 6/8 - - - - - - - - - 1 - HGNC HGNC:29953 NM_152635.3 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:72917906-72917906 G non_coding_transcript_exon_variant MODIFIER NPM1P24 ENSG00000215086 Transcript ENST00000428039.1 processed_pseudogene 1/1 - - - 629 - - - - - - -1 - HGNC HGNC:45097 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:72917906-72917906 G intron_variant MODIFIER OIT3 ENSG00000138315 Transcript ENST00000622652.1 protein_coding - 6/7 - - - - - - - - - 1 - HGNC HGNC:29953 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:72917906-72917906 G intron_variant MODIFIER OIT3 170392 Transcript NM_152635.3 protein_coding - 6/8 - - - - - - - - - 1 - EntrezGene HGNC:29953 ENST00000334011.10 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:72917906-72917906 G intron_variant,non_coding_transcript_variant MODIFIER OIT3 170392 Transcript NR_130125.2 misc_RNA - 6/7 - - - - - - - - - 1 - EntrezGene HGNC:29953 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:72917910-72917910 G intron_variant MODIFIER OIT3 ENSG00000138315 Transcript ENST00000334011.10 protein_coding - 6/8 - - - - - - - - - 1 - HGNC HGNC:29953 NM_152635.3 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:72917910-72917910 G non_coding_transcript_exon_variant MODIFIER NPM1P24 ENSG00000215086 Transcript ENST00000428039.1 processed_pseudogene 1/1 - - - 625 - - - - - - -1 - HGNC HGNC:45097 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:72917910-72917910 G intron_variant MODIFIER OIT3 ENSG00000138315 Transcript ENST00000622652.1 protein_coding - 6/7 - - - - - - - - - 1 - HGNC HGNC:29953 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:72917910-72917910 G intron_variant MODIFIER OIT3 170392 Transcript NM_152635.3 protein_coding - 6/8 - - - - - - - - - 1 - EntrezGene HGNC:29953 ENST00000334011.10 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:72917910-72917910 G intron_variant,non_coding_transcript_variant MODIFIER OIT3 170392 Transcript NR_130125.2 misc_RNA - 6/7 - - - - - - - - - 1 - EntrezGene HGNC:29953 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:72954419-72954419 T intron_variant MODIFIER PLA2G12B ENSG00000138308 Transcript ENST00000373032.4 protein_coding - 1/3 - - - - - - - rs3829126,COSV65978165 - -1 - HGNC HGNC:18555 NM_032562.5 - 1 P1 - Ensembl - G G - - - 0.2115 - 0,1 1,1 18096355,32154731,32203549,36269708 - - - - - . 10:72954419-72954419 T intron_variant MODIFIER PLA2G12B 84647 Transcript NM_001318124.2 protein_coding - 1/3 - - - - - - - rs3829126,COSV65978165 - -1 - EntrezGene HGNC:18555 - - - - - RefSeq - G G - - - 0.2115 - 0,1 1,1 18096355,32154731,32203549,36269708 - - - - - . 10:72954419-72954419 T intron_variant MODIFIER PLA2G12B 84647 Transcript NM_001318125.2 protein_coding - 1/2 - - - - - - - rs3829126,COSV65978165 - -1 - EntrezGene HGNC:18555 - - - - - RefSeq - G G - - - 0.2115 - 0,1 1,1 18096355,32154731,32203549,36269708 - - - - - . 10:72954419-72954419 T intron_variant MODIFIER PLA2G12B 84647 Transcript NM_032562.5 protein_coding - 1/3 - - - - - - - rs3829126,COSV65978165 - -1 - EntrezGene HGNC:18555 ENST00000373032.4 - - - - RefSeq - G G - - - 0.2115 - 0,1 1,1 18096355,32154731,32203549,36269708 - - - - - . 10:73005834-73005834 C downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000263556.3 protein_coding - - - - - - - - - rs111407228 1390 -1 - HGNC HGNC:8546 - - 1 P5 - Ensembl - T T - - - 0.0585 - - - - - - - - - . 10:73005834-73005834 C downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000307116.6 protein_coding - - - - - - - - - rs111407228 1383 -1 - HGNC HGNC:8546 - - 1 A1 - Ensembl - T T - - - 0.0585 - - - - - - - - - . 10:73005834-73005834 C downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000373008.7 protein_coding - - - - - - - - - rs111407228 1383 -1 - HGNC HGNC:8546 - - 1 A1 - Ensembl - T T - - - 0.0585 - - - - - - - - - . 10:73005834-73005834 C downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000394890.7 protein_coding - - - - - - - - - rs111407228 1383 -1 - HGNC HGNC:8546 NM_001017962.3 - 1 A1 - Ensembl - T T - - - 0.0585 - - - - - - - - - . 10:73005834-73005834 C non_coding_transcript_exon_variant MODIFIER RPL17P50 ENSG00000213700 Transcript ENST00000396131.2 processed_pseudogene 2/2 - - - 545 - - - - rs111407228 - -1 - HGNC HGNC:45098 - - - - - Ensembl - T T - - - 0.0585 - - - - - - - - - . 10:73005834-73005834 C downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000440381.5 protein_coding - - - - - - - - - rs111407228 1390 -1 - HGNC HGNC:8546 - - 3 - - Ensembl - T T - - - 0.0585 - - - - - - - - - . 10:73005834-73005834 C downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000464310.2 retained_intron - - - - - - - - - rs111407228 3806 -1 - HGNC HGNC:8546 - - 5 - - Ensembl - T T - - - 0.0585 - - - - - - - - - . 10:73005834-73005834 C downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_000917.4 protein_coding - - - - - - - - - rs111407228 1383 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - T T - - - 0.0585 - - - - - - - - - . 10:73005834-73005834 C downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001017962.3 protein_coding - - - - - - - - - rs111407228 1383 -1 - EntrezGene HGNC:8546 ENST00000394890.7 - - - - RefSeq - T T - - - 0.0585 - - - - - - - - - . 10:73005834-73005834 C downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001142595.2 protein_coding - - - - - - - - - rs111407228 1383 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - T T - - - 0.0585 - - - - - - - - - . 10:73005834-73005834 C downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001142596.2 protein_coding - - - - - - - - - rs111407228 1383 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - T T - - - 0.0585 - - - - - - - - - . 10:73006094-73006094 T downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000263556.3 protein_coding - - - - - - - - - rs180946135 1130 -1 - HGNC HGNC:8546 - - 1 P5 - Ensembl - C C - - - - - - - - - - - - - . 10:73006094-73006094 T downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000307116.6 protein_coding - - - - - - - - - rs180946135 1123 -1 - HGNC HGNC:8546 - - 1 A1 - Ensembl - C C - - - - - - - - - - - - - . 10:73006094-73006094 T downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000373008.7 protein_coding - - - - - - - - - rs180946135 1123 -1 - HGNC HGNC:8546 - - 1 A1 - Ensembl - C C - - - - - - - - - - - - - . 10:73006094-73006094 T downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000394890.7 protein_coding - - - - - - - - - rs180946135 1123 -1 - HGNC HGNC:8546 NM_001017962.3 - 1 A1 - Ensembl - C C - - - - - - - - - - - - - . 10:73006094-73006094 T non_coding_transcript_exon_variant MODIFIER RPL17P50 ENSG00000213700 Transcript ENST00000396131.2 processed_pseudogene 2/2 - - - 285 - - - - rs180946135 - -1 - HGNC HGNC:45098 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:73006094-73006094 T downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000440381.5 protein_coding - - - - - - - - - rs180946135 1130 -1 - HGNC HGNC:8546 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:73006094-73006094 T downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000464310.2 retained_intron - - - - - - - - - rs180946135 3546 -1 - HGNC HGNC:8546 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:73006094-73006094 T downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_000917.4 protein_coding - - - - - - - - - rs180946135 1123 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73006094-73006094 T downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001017962.3 protein_coding - - - - - - - - - rs180946135 1123 -1 - EntrezGene HGNC:8546 ENST00000394890.7 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73006094-73006094 T downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001142595.2 protein_coding - - - - - - - - - rs180946135 1123 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73006094-73006094 T downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001142596.2 protein_coding - - - - - - - - - rs180946135 1123 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73006465-73006465 G downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000263556.3 protein_coding - - - - - - - - - - 759 -1 - HGNC HGNC:8546 - - 1 P5 - Ensembl - C C - - - - - - - - - - - - - . 10:73006465-73006465 G downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000307116.6 protein_coding - - - - - - - - - - 752 -1 - HGNC HGNC:8546 - - 1 A1 - Ensembl - C C - - - - - - - - - - - - - . 10:73006465-73006465 G downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000373008.7 protein_coding - - - - - - - - - - 752 -1 - HGNC HGNC:8546 - - 1 A1 - Ensembl - C C - - - - - - - - - - - - - . 10:73006465-73006465 G downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000394890.7 protein_coding - - - - - - - - - - 752 -1 - HGNC HGNC:8546 NM_001017962.3 - 1 A1 - Ensembl - C C - - - - - - - - - - - - - . 10:73006465-73006465 G non_coding_transcript_exon_variant MODIFIER RPL17P50 ENSG00000213700 Transcript ENST00000396131.2 processed_pseudogene 1/2 - - - 131 - - - - - - -1 - HGNC HGNC:45098 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:73006465-73006465 G downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000440381.5 protein_coding - - - - - - - - - - 759 -1 - HGNC HGNC:8546 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:73006465-73006465 G downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000464310.2 retained_intron - - - - - - - - - - 3175 -1 - HGNC HGNC:8546 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:73006465-73006465 G downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_000917.4 protein_coding - - - - - - - - - - 752 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73006465-73006465 G downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001017962.3 protein_coding - - - - - - - - - - 752 -1 - EntrezGene HGNC:8546 ENST00000394890.7 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73006465-73006465 G downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001142595.2 protein_coding - - - - - - - - - - 752 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73006465-73006465 G downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001142596.2 protein_coding - - - - - - - - - - 752 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73006478-73006478 G downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000263556.3 protein_coding - - - - - - - - - - 746 -1 - HGNC HGNC:8546 - - 1 P5 - Ensembl - A A - - - - - - - - - - - - - . 10:73006478-73006478 G downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000307116.6 protein_coding - - - - - - - - - - 739 -1 - HGNC HGNC:8546 - - 1 A1 - Ensembl - A A - - - - - - - - - - - - - . 10:73006478-73006478 G downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000373008.7 protein_coding - - - - - - - - - - 739 -1 - HGNC HGNC:8546 - - 1 A1 - Ensembl - A A - - - - - - - - - - - - - . 10:73006478-73006478 G downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000394890.7 protein_coding - - - - - - - - - - 739 -1 - HGNC HGNC:8546 NM_001017962.3 - 1 A1 - Ensembl - A A - - - - - - - - - - - - - . 10:73006478-73006478 G non_coding_transcript_exon_variant MODIFIER RPL17P50 ENSG00000213700 Transcript ENST00000396131.2 processed_pseudogene 1/2 - - - 118 - - - - - - -1 - HGNC HGNC:45098 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:73006478-73006478 G downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000440381.5 protein_coding - - - - - - - - - - 746 -1 - HGNC HGNC:8546 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:73006478-73006478 G downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000464310.2 retained_intron - - - - - - - - - - 3162 -1 - HGNC HGNC:8546 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:73006478-73006478 G downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_000917.4 protein_coding - - - - - - - - - - 739 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:73006478-73006478 G downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001017962.3 protein_coding - - - - - - - - - - 739 -1 - EntrezGene HGNC:8546 ENST00000394890.7 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:73006478-73006478 G downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001142595.2 protein_coding - - - - - - - - - - 739 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:73006478-73006478 G downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001142596.2 protein_coding - - - - - - - - - - 739 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:73006560-73006560 C downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000263556.3 protein_coding - - - - - - - - - - 664 -1 - HGNC HGNC:8546 - - 1 P5 - Ensembl - T T - - - - - - - - - - - - - . 10:73006560-73006560 C downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000307116.6 protein_coding - - - - - - - - - - 657 -1 - HGNC HGNC:8546 - - 1 A1 - Ensembl - T T - - - - - - - - - - - - - . 10:73006560-73006560 C downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000373008.7 protein_coding - - - - - - - - - - 657 -1 - HGNC HGNC:8546 - - 1 A1 - Ensembl - T T - - - - - - - - - - - - - . 10:73006560-73006560 C downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000394890.7 protein_coding - - - - - - - - - - 657 -1 - HGNC HGNC:8546 NM_001017962.3 - 1 A1 - Ensembl - T T - - - - - - - - - - - - - . 10:73006560-73006560 C non_coding_transcript_exon_variant MODIFIER RPL17P50 ENSG00000213700 Transcript ENST00000396131.2 processed_pseudogene 1/2 - - - 36 - - - - - - -1 - HGNC HGNC:45098 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:73006560-73006560 C downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000440381.5 protein_coding - - - - - - - - - - 664 -1 - HGNC HGNC:8546 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:73006560-73006560 C downstream_gene_variant MODIFIER P4HA1 ENSG00000122884 Transcript ENST00000464310.2 retained_intron - - - - - - - - - - 3080 -1 - HGNC HGNC:8546 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:73006560-73006560 C downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_000917.4 protein_coding - - - - - - - - - - 657 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:73006560-73006560 C downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001017962.3 protein_coding - - - - - - - - - - 657 -1 - EntrezGene HGNC:8546 ENST00000394890.7 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:73006560-73006560 C downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001142595.2 protein_coding - - - - - - - - - - 657 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:73006560-73006560 C downstream_gene_variant MODIFIER P4HA1 5033 Transcript NM_001142596.2 protein_coding - - - - - - - - - - 657 -1 - EntrezGene HGNC:8546 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:73014217-73014217 A splice_region_variant,intron_variant LOW P4HA1 ENSG00000122884 Transcript ENST00000263556.3 protein_coding - 12/14 - - - - - - - rs73272315 - -1 - HGNC HGNC:8546 - - 1 P5 - Ensembl - G G - - - 0.0260 benign - 1 - - - - - - . 10:73014217-73014217 A splice_region_variant,intron_variant LOW P4HA1 ENSG00000122884 Transcript ENST00000307116.6 protein_coding - 12/14 - - - - - - - rs73272315 - -1 - HGNC HGNC:8546 - - 1 A1 - Ensembl - G G - - - 0.0260 benign - 1 - - - - - - . 10:73014217-73014217 A splice_region_variant,intron_variant LOW P4HA1 ENSG00000122884 Transcript ENST00000373008.7 protein_coding - 12/14 - - - - - - - rs73272315 - -1 - HGNC HGNC:8546 - - 1 A1 - Ensembl - G G - - - 0.0260 benign - 1 - - - - - - . 10:73014217-73014217 A splice_region_variant,intron_variant LOW P4HA1 ENSG00000122884 Transcript ENST00000394890.7 protein_coding - 12/14 - - - - - - - rs73272315 - -1 - HGNC HGNC:8546 NM_001017962.3 - 1 A1 - Ensembl - G G - - - 0.0260 benign - 1 - - - - - - . 10:73014217-73014217 A splice_region_variant,intron_variant LOW P4HA1 ENSG00000122884 Transcript ENST00000440381.5 protein_coding - 11/13 - - - - - - - rs73272315 - -1 - HGNC HGNC:8546 - - 3 - - Ensembl - G G - - - 0.0260 benign - 1 - - - - - - . 10:73014217-73014217 A splice_region_variant,intron_variant,non_coding_transcript_variant LOW P4HA1 ENSG00000122884 Transcript ENST00000464310.2 retained_intron - 2/3 - - - - - - - rs73272315 - -1 - HGNC HGNC:8546 - - 5 - - Ensembl - G G - - - 0.0260 benign - 1 - - - - - - . 10:73014217-73014217 A splice_region_variant,intron_variant LOW P4HA1 5033 Transcript NM_000917.4 protein_coding - 12/14 - - - - - - - rs73272315 - -1 - EntrezGene HGNC:8546 - - - - - RefSeq - G G - - - 0.0260 benign - 1 - - - - - - . 10:73014217-73014217 A splice_region_variant,intron_variant LOW P4HA1 5033 Transcript NM_001017962.3 protein_coding - 12/14 - - - - - - - rs73272315 - -1 - EntrezGene HGNC:8546 ENST00000394890.7 - - - - RefSeq - G G - - - 0.0260 benign - 1 - - - - - - . 10:73014217-73014217 A splice_region_variant,intron_variant LOW P4HA1 5033 Transcript NM_001142595.2 protein_coding - 13/15 - - - - - - - rs73272315 - -1 - EntrezGene HGNC:8546 - - - - - RefSeq - G G - - - 0.0260 benign - 1 - - - - - - . 10:73014217-73014217 A splice_region_variant,intron_variant LOW P4HA1 5033 Transcript NM_001142596.2 protein_coding - 11/13 - - - - - - - rs73272315 - -1 - EntrezGene HGNC:8546 - - - - - RefSeq - G G - - - 0.0260 benign - 1 - - - - - - . 10:73243411-73243411 T 3_prime_UTR_variant MODIFIER FAM149B1 ENSG00000138286 Transcript ENST00000242505.11 protein_coding 14/14 - - - 4362 - - - - rs1429044986,COSV54354363,COSV54355209 - 1 - HGNC HGNC:29162 NM_173348.2 - 5 P1 - Ensembl - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T missense_variant MODERATE DNAJC9 ENSG00000213551 Transcript ENST00000372950.6 protein_coding 5/5 - - - 838 772 258 E/K Gaa/Aaa rs1429044986,COSV54354363,COSV54355209 - -1 - HGNC HGNC:19123 NM_015190.5 - 1 P1 - Ensembl - C C - tolerated(1) unknown(0) - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T upstream_gene_variant MODIFIER DNAJC9-AS1 ENSG00000236756 Transcript ENST00000440197.2 lncRNA - - - - - - - - - rs1429044986,COSV54354363,COSV54355209 3949 1 - HGNC HGNC:31432 - - 1 - - Ensembl - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T downstream_gene_variant MODIFIER FAM149B1 ENSG00000138286 Transcript ENST00000445951.5 protein_coding - - - - - - - - - rs1429044986,COSV54354363,COSV54355209 1231 1 cds_start_NF HGNC HGNC:29162 - - 5 - - Ensembl - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T upstream_gene_variant MODIFIER DNAJC9 ENSG00000213551 Transcript ENST00000453189.2 protein_coding_CDS_not_defined - - - - - - - - - rs1429044986,COSV54354363,COSV54355209 13 -1 - HGNC HGNC:19123 - - 3 - - Ensembl - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T downstream_gene_variant MODIFIER FAM149B1 ENSG00000138286 Transcript ENST00000468462.1 retained_intron - - - - - - - - - rs1429044986,COSV54354363,COSV54355209 1230 1 - HGNC HGNC:29162 - - 2 - - Ensembl - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T intron_variant,non_coding_transcript_variant MODIFIER DNAJC9 ENSG00000213551 Transcript ENST00000469143.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs1429044986,COSV54354363,COSV54355209 - -1 - HGNC HGNC:19123 - - 3 - - Ensembl - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T downstream_gene_variant MODIFIER - ENSG00000288559 Transcript ENST00000512551.1 lncRNA - - - - - - - - - rs1429044986,COSV54354363,COSV54355209 3931 -1 - - - - - 2 - - Ensembl - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T upstream_gene_variant MODIFIER DNAJC9-AS1 ENSG00000236756 Transcript ENST00000513954.1 lncRNA - - - - - - - - - rs1429044986,COSV54354363,COSV54355209 4972 1 - HGNC HGNC:31432 - - 3 - - Ensembl - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T missense_variant MODERATE DNAJC9 23234 Transcript NM_015190.5 protein_coding 5/5 - - - 838 772 258 E/K Gaa/Aaa rs1429044986,COSV54354363,COSV54355209 - -1 - EntrezGene HGNC:19123 ENST00000372950.6 - - - - RefSeq - C C - tolerated(1) unknown(0) - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T 3_prime_UTR_variant MODIFIER FAM149B1 317662 Transcript NM_173348.2 protein_coding 14/14 - - - 4362 - - - - rs1429044986,COSV54354363,COSV54355209 - 1 - EntrezGene HGNC:29162 ENST00000242505.11 - - - - RefSeq - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T upstream_gene_variant MODIFIER DNAJC9-AS1 414245 Transcript NR_038373.1 lncRNA - - - - - - - - - rs1429044986,COSV54354363,COSV54355209 3956 1 - EntrezGene HGNC:31432 - - - - - RefSeq - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T intron_variant MODIFIER DNAJC9 23234 Transcript XM_047424908.1 protein_coding - 4/4 - - - - - - - rs1429044986,COSV54354363,COSV54355209 - -1 - EntrezGene HGNC:19123 - - - - - RefSeq - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T intron_variant MODIFIER DNAJC9 23234 Transcript XM_047424909.1 protein_coding - 4/5 - - - - - - - rs1429044986,COSV54354363,COSV54355209 - -1 - EntrezGene HGNC:19123 - - - - - RefSeq - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73243411-73243411 T intron_variant,non_coding_transcript_variant MODIFIER DNAJC9 23234 Transcript XR_007061950.1 misc_RNA - 4/6 - - - - - - - rs1429044986,COSV54354363,COSV54355209 - -1 - EntrezGene HGNC:19123 - - - - - RefSeq - C C - - - - - 0,1,1 0,1,1 - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER FAM149B1 ENSG00000138286 Transcript ENST00000242505.11 protein_coding - - - - - - - - - rs774118587 1601 1 - HGNC HGNC:29162 NM_173348.2 - 5 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER MRPS16 ENSG00000182180 Transcript ENST00000372940.3 protein_coding - - - - - - - - - rs774118587 2833 -1 - HGNC HGNC:14048 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER MRPS16 ENSG00000182180 Transcript ENST00000372945.8 protein_coding - - - - - - - - - rs774118587 2744 -1 - HGNC HGNC:14048 NM_016065.4 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T synonymous_variant LOW DNAJC9 ENSG00000213551 Transcript ENST00000372950.6 protein_coding 3/5 - - - 459 393 131 K aaG/aaA rs774118587 - -1 - HGNC HGNC:19123 NM_015190.5 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T upstream_gene_variant MODIFIER DNAJC9-AS1 ENSG00000236756 Transcript ENST00000440197.2 lncRNA - - - - - - - - - rs774118587 1255 1 - HGNC HGNC:31432 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER FAM149B1 ENSG00000138286 Transcript ENST00000445951.5 protein_coding - - - - - - - - - rs774118587 3925 1 cds_start_NF HGNC HGNC:29162 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T upstream_gene_variant MODIFIER DNAJC9 ENSG00000213551 Transcript ENST00000453189.2 protein_coding_CDS_not_defined - - - - - - - - - rs774118587 2707 -1 - HGNC HGNC:19123 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER FAM149B1 ENSG00000138286 Transcript ENST00000468462.1 retained_intron - - - - - - - - - rs774118587 3924 1 - HGNC HGNC:29162 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T upstream_gene_variant MODIFIER DNAJC9 ENSG00000213551 Transcript ENST00000469143.1 protein_coding_CDS_not_defined - - - - - - - - - rs774118587 124 -1 - HGNC HGNC:19123 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER MRPS16 ENSG00000182180 Transcript ENST00000471251.5 protein_coding_CDS_not_defined - - - - - - - - - rs774118587 4636 -1 - HGNC HGNC:14048 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER MRPS16 ENSG00000182180 Transcript ENST00000473427.1 protein_coding_CDS_not_defined - - - - - - - - - rs774118587 4639 -1 - HGNC HGNC:14048 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER MRPS16 ENSG00000182180 Transcript ENST00000479005.1 protein_coding_CDS_not_defined - - - - - - - - - rs774118587 2738 -1 - HGNC HGNC:14048 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER - ENSG00000288559 Transcript ENST00000512551.1 lncRNA - - - - - - - - - rs774118587 1237 -1 - - - - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T upstream_gene_variant MODIFIER DNAJC9-AS1 ENSG00000236756 Transcript ENST00000513954.1 lncRNA - - - - - - - - - rs774118587 2278 1 - HGNC HGNC:31432 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:73246105-73246105 T synonymous_variant LOW DNAJC9 23234 Transcript NM_015190.5 protein_coding 3/5 - - - 459 393 131 K aaG/aaA rs774118587 - -1 - EntrezGene HGNC:19123 ENST00000372950.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER MRPS16 51021 Transcript NM_016065.4 protein_coding - - - - - - - - - rs774118587 2744 -1 - EntrezGene HGNC:14048 ENST00000372945.8 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER FAM149B1 317662 Transcript NM_173348.2 protein_coding - - - - - - - - - rs774118587 1601 1 - EntrezGene HGNC:29162 ENST00000242505.11 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73246105-73246105 T upstream_gene_variant MODIFIER DNAJC9-AS1 414245 Transcript NR_038373.1 lncRNA - - - - - - - - - rs774118587 1262 1 - EntrezGene HGNC:31432 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73246105-73246105 T synonymous_variant LOW DNAJC9 23234 Transcript XM_047424908.1 protein_coding 3/5 - - - 459 393 131 K aaG/aaA rs774118587 - -1 - EntrezGene HGNC:19123 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73246105-73246105 T synonymous_variant LOW DNAJC9 23234 Transcript XM_047424909.1 protein_coding 3/6 - - - 459 393 131 K aaG/aaA rs774118587 - -1 - EntrezGene HGNC:19123 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER MRPS16 51021 Transcript XM_047425263.1 protein_coding - - - - - - - - - rs774118587 2744 -1 - EntrezGene HGNC:14048 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73246105-73246105 T downstream_gene_variant MODIFIER MRPS16 51021 Transcript XM_047425264.1 protein_coding - - - - - - - - - rs774118587 2744 -1 - EntrezGene HGNC:14048 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73246105-73246105 T non_coding_transcript_exon_variant MODIFIER DNAJC9 23234 Transcript XR_007061950.1 misc_RNA 3/7 - - - 459 - - - - rs774118587 - -1 - EntrezGene HGNC:19123 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:73246105-73246105 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000029809 promoter - - - - - - - - - rs774118587 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:73422275-73422275 T downstream_gene_variant MODIFIER MSS51 ENSG00000166343 Transcript ENST00000299432.7 protein_coding - - - - - - - - - - 1304 -1 - HGNC HGNC:21000 NM_001024593.2 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:73422275-73422275 T downstream_gene_variant MODIFIER MSS51 ENSG00000166343 Transcript ENST00000372912.1 protein_coding - - - - - - - - - - 2154 -1 - HGNC HGNC:21000 - - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:73422275-73422275 T non_coding_transcript_exon_variant MODIFIER RPL26P6 ENSG00000229659 Transcript ENST00000440913.1 processed_pseudogene 1/1 - - - 422 - - - - - - -1 - HGNC HGNC:34023 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:73422275-73422275 T downstream_gene_variant MODIFIER MSS51 ENSG00000166343 Transcript ENST00000487126.5 nonsense_mediated_decay - - - - - - - - - - 1304 -1 - HGNC HGNC:21000 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:73422275-73422275 T downstream_gene_variant MODIFIER MSS51 118490 Transcript NM_001024593.2 protein_coding - - - - - - - - - - 1304 -1 - EntrezGene HGNC:21000 ENST00000299432.7 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:73422275-73422275 T downstream_gene_variant MODIFIER MSS51 118490 Transcript XM_047424550.1 protein_coding - - - - - - - - - - 1304 -1 - EntrezGene HGNC:21000 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:73422280-73422280 G downstream_gene_variant MODIFIER MSS51 ENSG00000166343 Transcript ENST00000299432.7 protein_coding - - - - - - - - - - 1299 -1 - HGNC HGNC:21000 NM_001024593.2 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:73422280-73422280 G downstream_gene_variant MODIFIER MSS51 ENSG00000166343 Transcript ENST00000372912.1 protein_coding - - - - - - - - - - 2149 -1 - HGNC HGNC:21000 - - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:73422280-73422280 G non_coding_transcript_exon_variant MODIFIER RPL26P6 ENSG00000229659 Transcript ENST00000440913.1 processed_pseudogene 1/1 - - - 417 - - - - - - -1 - HGNC HGNC:34023 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:73422280-73422280 G downstream_gene_variant MODIFIER MSS51 ENSG00000166343 Transcript ENST00000487126.5 nonsense_mediated_decay - - - - - - - - - - 1299 -1 - HGNC HGNC:21000 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:73422280-73422280 G downstream_gene_variant MODIFIER MSS51 118490 Transcript NM_001024593.2 protein_coding - - - - - - - - - - 1299 -1 - EntrezGene HGNC:21000 ENST00000299432.7 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:73422280-73422280 G downstream_gene_variant MODIFIER MSS51 118490 Transcript XM_047424550.1 protein_coding - - - - - - - - - - 1299 -1 - EntrezGene HGNC:21000 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:73422340-73422340 G downstream_gene_variant MODIFIER MSS51 ENSG00000166343 Transcript ENST00000299432.7 protein_coding - - - - - - - - - - 1239 -1 - HGNC HGNC:21000 NM_001024593.2 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:73422340-73422340 G downstream_gene_variant MODIFIER MSS51 ENSG00000166343 Transcript ENST00000372912.1 protein_coding - - - - - - - - - - 2089 -1 - HGNC HGNC:21000 - - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:73422340-73422340 G non_coding_transcript_exon_variant MODIFIER RPL26P6 ENSG00000229659 Transcript ENST00000440913.1 processed_pseudogene 1/1 - - - 357 - - - - - - -1 - HGNC HGNC:34023 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:73422340-73422340 G downstream_gene_variant MODIFIER MSS51 ENSG00000166343 Transcript ENST00000487126.5 nonsense_mediated_decay - - - - - - - - - - 1239 -1 - HGNC HGNC:21000 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:73422340-73422340 G downstream_gene_variant MODIFIER MSS51 118490 Transcript NM_001024593.2 protein_coding - - - - - - - - - - 1239 -1 - EntrezGene HGNC:21000 ENST00000299432.7 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:73422340-73422340 G downstream_gene_variant MODIFIER MSS51 118490 Transcript XM_047424550.1 protein_coding - - - - - - - - - - 1239 -1 - EntrezGene HGNC:21000 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:73713946-73713946 C upstream_gene_variant MODIFIER - ENSG00000272140 Transcript ENST00000415917.2 lncRNA - - - - - - - - - rs3870401 437 -1 - - - - - 3 - - Ensembl - G G - - - 0.3003 - - - - - - - - - . 10:73713946-73713946 C downstream_gene_variant MODIFIER BMS1P4 ENSG00000242338 Transcript ENST00000441263.1 transcribed_unprocessed_pseudogene - - - - - - - - - rs3870401 3169 -1 - HGNC HGNC:23652 - - - - - Ensembl - G G - - - 0.3003 - - - - - - - - - . 10:73713946-73713946 C upstream_gene_variant MODIFIER - ENSG00000272140 Transcript ENST00000580623.1 lncRNA - - - - - - - - - rs3870401 365 -1 - - - - - 2 - - Ensembl - G G - - - 0.3003 - - - - - - - - - . 10:73713946-73713946 C downstream_gene_variant MODIFIER - ENSG00000290737 Transcript ENST00000584747.5 lncRNA - - - - - - - - - rs3870401 1897 -1 - - - - - 1 - - Ensembl - G G - - - 0.3003 - - - - - - - - - . 10:73713946-73713946 C intron_variant,non_coding_transcript_variant MODIFIER BMS1P4 729096 Transcript NR_026592.2 transcribed_pseudogene - 9/11 - - - - - - - rs3870401 - -1 - EntrezGene HGNC:23652 - - - - - RefSeq - G G - - - 0.3003 - - - - - - - - - . 10:73713946-73713946 C intron_variant,non_coding_transcript_variant MODIFIER BMS1P4-AGAP5 113939925 Transcript NR_160425.1 transcribed_pseudogene - 9/18 - - - - - - - rs3870401 - -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.3003 - - - - - - - - - . 10:73713946-73713946 C intron_variant,non_coding_transcript_variant MODIFIER BMS1P4-AGAP5 113939925 Transcript NR_160426.1 transcribed_pseudogene - 9/19 - - - - - - - rs3870401 - -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.3003 - - - - - - - - - . 10:73713946-73713946 C intron_variant,non_coding_transcript_variant MODIFIER BMS1P4-AGAP5 113939925 Transcript NR_160427.1 transcribed_pseudogene - 8/17 - - - - - - - rs3870401 - -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.3003 - - - - - - - - - . 10:73713946-73713946 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000029851 TF_binding_site - - - - - - - - - rs3870401 - - - - - - - - - - - - - - - - - 0.3003 - - - - - - - - - . 10:74105307-74105307 A synonymous_variant LOW VCL ENSG00000035403 Transcript ENST00000211998.10 protein_coding 16/22 - - - 2480 2388 796 P ccG/ccA rs767809,COSV53006809 - 1 - HGNC HGNC:12665 NM_014000.3 - 1 - - Ensembl - G G - - - 0.3247 benign,uncertain_significance 0,1 1,1 25741868,24033266 - - - - - . 10:74105307-74105307 A synonymous_variant LOW VCL ENSG00000035403 Transcript ENST00000372755.7 protein_coding 16/21 - - - 2482 2388 796 P ccG/ccA rs767809,COSV53006809 - 1 - HGNC HGNC:12665 - - 1 P1 - Ensembl - G G - - - 0.3247 benign,uncertain_significance 0,1 1,1 25741868,24033266 - - - - - . 10:74105307-74105307 A non_coding_transcript_exon_variant MODIFIER VCL ENSG00000035403 Transcript ENST00000472585.1 retained_intron 1/3 - - - 380 - - - - rs767809,COSV53006809 - 1 - HGNC HGNC:12665 - - 2 - - Ensembl - G G - - - 0.3247 benign,uncertain_significance 0,1 1,1 25741868,24033266 - - - - - . 10:74105307-74105307 A downstream_gene_variant MODIFIER VCL ENSG00000035403 Transcript ENST00000478896.2 protein_coding_CDS_not_defined - - - - - - - - - rs767809,COSV53006809 14 1 - HGNC HGNC:12665 - - 5 - - Ensembl - G G - - - 0.3247 benign,uncertain_significance 0,1 1,1 25741868,24033266 - - - - - . 10:74105307-74105307 A non_coding_transcript_exon_variant MODIFIER VCL ENSG00000035403 Transcript ENST00000623461.3 protein_coding_CDS_not_defined 18/23 - - - 5191 - - - - rs767809,COSV53006809 - 1 - HGNC HGNC:12665 - - 1 - - Ensembl - G G - - - 0.3247 benign,uncertain_significance 0,1 1,1 25741868,24033266 - - - - - . 10:74105307-74105307 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER VCL ENSG00000035403 Transcript ENST00000624354.3 nonsense_mediated_decay 15/21 - - - 2411 - - - - rs767809,COSV53006809 - 1 - HGNC HGNC:12665 - - 2 - - Ensembl - G G - - - 0.3247 benign,uncertain_significance 0,1 1,1 25741868,24033266 - - - - - . 10:74105307-74105307 A synonymous_variant LOW VCL 7414 Transcript NM_003373.4 protein_coding 16/21 - - - 2480 2388 796 P ccG/ccA rs767809,COSV53006809 - 1 - EntrezGene HGNC:12665 - - - - - RefSeq - G G - - - 0.3247 benign,uncertain_significance 0,1 1,1 25741868,24033266 - - - - - . 10:74105307-74105307 A synonymous_variant LOW VCL 7414 Transcript NM_014000.3 protein_coding 16/22 - - - 2480 2388 796 P ccG/ccA rs767809,COSV53006809 - 1 - EntrezGene HGNC:12665 ENST00000211998.10 - - - - RefSeq - G G - - - 0.3247 benign,uncertain_significance 0,1 1,1 25741868,24033266 - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000286621.7 protein_coding - 4/11 - - - - - - - - - 1 - HGNC HGNC:257 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000372734.5 protein_coding - 4/10 - - - - - - - - - 1 - HGNC HGNC:257 - - 1 A1 - Ensembl - T T - - - - - - - - - - - - - . 10:74371721-74371721 C non_coding_transcript_exon_variant MODIFIER RPSAP6 ENSG00000214629 Transcript ENST00000417882.1 processed_pseudogene 1/1 - - - 187 - - - - - - 1 - HGNC HGNC:31458 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000539909.6 protein_coding - 4/10 - - - - - - - - - 1 - HGNC HGNC:257 NM_006721.4 - 2 P3 - Ensembl - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000541550.6 protein_coding - 4/11 - - - - - - - - - 1 - HGNC HGNC:257 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672394.1 protein_coding - 5/11 - - - - - - - - - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672429.1 protein_coding - 4/9 - - - - - - - - - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672604.1 protein_coding - 1/5 - - - - - - - - - 1 cds_start_NF HGNC HGNC:257 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672920.1 nonsense_mediated_decay - 5/11 - - - - - - - - - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673027.1 protein_coding - 3/9 - - - - - - - - - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673310.1 nonsense_mediated_decay - 4/11 - - - - - - - - - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673352.1 protein_coding - 4/9 - - - - - - - - - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript NM_001123.4 protein_coding - 4/10 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript NM_001202449.2 protein_coding - 3/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript NM_001202450.2 protein_coding - 4/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript NM_001369123.1 protein_coding - 4/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript NM_001369124.1 protein_coding - 4/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript NM_006721.4 protein_coding - 4/10 - - - - - - - - - 1 - EntrezGene HGNC:257 ENST00000539909.6 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript XM_017015698.2 protein_coding - 4/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript XM_017015699.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript XM_017015702.2 protein_coding - 4/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript XM_017015704.2 protein_coding - 4/7 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript XM_017015705.2 protein_coding - 4/8 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript XM_017015706.2 protein_coding - 4/7 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript XM_047424620.1 protein_coding - 4/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C intron_variant MODIFIER ADK 132 Transcript XM_047424621.1 protein_coding - 4/8 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:74371721-74371721 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000029960 open_chromatin_region - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000286621.7 protein_coding - 4/11 - - - - - - - COSV54216315 - 1 - HGNC HGNC:257 - - 1 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000372734.5 protein_coding - 4/10 - - - - - - - COSV54216315 - 1 - HGNC HGNC:257 - - 1 A1 - Ensembl - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G non_coding_transcript_exon_variant MODIFIER RPSAP6 ENSG00000214629 Transcript ENST00000417882.1 processed_pseudogene 1/1 - - - 252 - - - - COSV54216315 - 1 - HGNC HGNC:31458 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000539909.6 protein_coding - 4/10 - - - - - - - COSV54216315 - 1 - HGNC HGNC:257 NM_006721.4 - 2 P3 - Ensembl - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000541550.6 protein_coding - 4/11 - - - - - - - COSV54216315 - 1 - HGNC HGNC:257 - - 2 - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672394.1 protein_coding - 5/11 - - - - - - - COSV54216315 - 1 - HGNC HGNC:257 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672429.1 protein_coding - 4/9 - - - - - - - COSV54216315 - 1 - HGNC HGNC:257 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672604.1 protein_coding - 1/5 - - - - - - - COSV54216315 - 1 cds_start_NF HGNC HGNC:257 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672920.1 nonsense_mediated_decay - 5/11 - - - - - - - COSV54216315 - 1 - HGNC HGNC:257 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673027.1 protein_coding - 3/9 - - - - - - - COSV54216315 - 1 - HGNC HGNC:257 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673310.1 nonsense_mediated_decay - 4/11 - - - - - - - COSV54216315 - 1 - HGNC HGNC:257 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673352.1 protein_coding - 4/9 - - - - - - - COSV54216315 - 1 - HGNC HGNC:257 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript NM_001123.4 protein_coding - 4/10 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript NM_001202449.2 protein_coding - 3/9 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript NM_001202450.2 protein_coding - 4/9 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript NM_001369123.1 protein_coding - 4/9 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript NM_001369124.1 protein_coding - 4/9 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript NM_006721.4 protein_coding - 4/10 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 ENST00000539909.6 - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript XM_017015698.2 protein_coding - 4/9 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript XM_017015699.2 protein_coding - 1/8 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript XM_017015702.2 protein_coding - 4/9 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript XM_017015704.2 protein_coding - 4/7 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript XM_017015705.2 protein_coding - 4/8 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript XM_017015706.2 protein_coding - 4/7 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript XM_047424620.1 protein_coding - 4/9 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G intron_variant MODIFIER ADK 132 Transcript XM_047424621.1 protein_coding - 4/8 - - - - - - - COSV54216315 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:74371786-74371786 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000029960 open_chromatin_region - - - - - - - - - COSV54216315 - - - - - - - - - - - - - - - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000286621.7 protein_coding - 4/11 - - - - - - - COSV54211203 - 1 - HGNC HGNC:257 - - 1 - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000372734.5 protein_coding - 4/10 - - - - - - - COSV54211203 - 1 - HGNC HGNC:257 - - 1 A1 - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C non_coding_transcript_exon_variant MODIFIER RPSAP6 ENSG00000214629 Transcript ENST00000417882.1 processed_pseudogene 1/1 - - - 299 - - - - COSV54211203 - 1 - HGNC HGNC:31458 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000539909.6 protein_coding - 4/10 - - - - - - - COSV54211203 - 1 - HGNC HGNC:257 NM_006721.4 - 2 P3 - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000541550.6 protein_coding - 4/11 - - - - - - - COSV54211203 - 1 - HGNC HGNC:257 - - 2 - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672394.1 protein_coding - 5/11 - - - - - - - COSV54211203 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672429.1 protein_coding - 4/9 - - - - - - - COSV54211203 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672604.1 protein_coding - 1/5 - - - - - - - COSV54211203 - 1 cds_start_NF HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672920.1 nonsense_mediated_decay - 5/11 - - - - - - - COSV54211203 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673027.1 protein_coding - 3/9 - - - - - - - COSV54211203 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673310.1 nonsense_mediated_decay - 4/11 - - - - - - - COSV54211203 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673352.1 protein_coding - 4/9 - - - - - - - COSV54211203 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript NM_001123.4 protein_coding - 4/10 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript NM_001202449.2 protein_coding - 3/9 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript NM_001202450.2 protein_coding - 4/9 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript NM_001369123.1 protein_coding - 4/9 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript NM_001369124.1 protein_coding - 4/9 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript NM_006721.4 protein_coding - 4/10 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 ENST00000539909.6 - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript XM_017015698.2 protein_coding - 4/9 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript XM_017015699.2 protein_coding - 1/8 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript XM_017015702.2 protein_coding - 4/9 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript XM_017015704.2 protein_coding - 4/7 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript XM_017015705.2 protein_coding - 4/8 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript XM_017015706.2 protein_coding - 4/7 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript XM_047424620.1 protein_coding - 4/9 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C intron_variant MODIFIER ADK 132 Transcript XM_047424621.1 protein_coding - 4/8 - - - - - - - COSV54211203 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74371833-74371833 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000029960 open_chromatin_region - - - - - - - - - COSV54211203 - - - - - - - - - - - - - - - - - - - 1 1 - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000286621.7 protein_coding - 4/11 - - - - - - - - - 1 - HGNC HGNC:257 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000372734.5 protein_coding - 4/10 - - - - - - - - - 1 - HGNC HGNC:257 - - 1 A1 - Ensembl - A A - - - - - - - - - - - - - . 10:74372242-74372242 C non_coding_transcript_exon_variant MODIFIER RPSAP6 ENSG00000214629 Transcript ENST00000417882.1 processed_pseudogene 1/1 - - - 708 - - - - - - 1 - HGNC HGNC:31458 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000539909.6 protein_coding - 4/10 - - - - - - - - - 1 - HGNC HGNC:257 NM_006721.4 - 2 P3 - Ensembl - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000541550.6 protein_coding - 4/11 - - - - - - - - - 1 - HGNC HGNC:257 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672394.1 protein_coding - 5/11 - - - - - - - - - 1 - HGNC HGNC:257 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672429.1 protein_coding - 4/9 - - - - - - - - - 1 - HGNC HGNC:257 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672604.1 protein_coding - 1/5 - - - - - - - - - 1 cds_start_NF HGNC HGNC:257 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672920.1 nonsense_mediated_decay - 5/11 - - - - - - - - - 1 - HGNC HGNC:257 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673027.1 protein_coding - 3/9 - - - - - - - - - 1 - HGNC HGNC:257 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673310.1 nonsense_mediated_decay - 4/11 - - - - - - - - - 1 - HGNC HGNC:257 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673352.1 protein_coding - 4/9 - - - - - - - - - 1 - HGNC HGNC:257 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript NM_001123.4 protein_coding - 4/10 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript NM_001202449.2 protein_coding - 3/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript NM_001202450.2 protein_coding - 4/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript NM_001369123.1 protein_coding - 4/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript NM_001369124.1 protein_coding - 4/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript NM_006721.4 protein_coding - 4/10 - - - - - - - - - 1 - EntrezGene HGNC:257 ENST00000539909.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript XM_017015698.2 protein_coding - 4/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript XM_017015699.2 protein_coding - 1/8 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript XM_017015702.2 protein_coding - 4/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript XM_017015704.2 protein_coding - 4/7 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript XM_017015705.2 protein_coding - 4/8 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript XM_017015706.2 protein_coding - 4/7 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript XM_047424620.1 protein_coding - 4/9 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372242-74372242 C intron_variant MODIFIER ADK 132 Transcript XM_047424621.1 protein_coding - 4/8 - - - - - - - - - 1 - EntrezGene HGNC:257 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000286621.7 protein_coding - 4/11 - - - - - - - rs1000822533,COSV54216335 - 1 - HGNC HGNC:257 - - 1 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000372734.5 protein_coding - 4/10 - - - - - - - rs1000822533,COSV54216335 - 1 - HGNC HGNC:257 - - 1 A1 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T non_coding_transcript_exon_variant MODIFIER RPSAP6 ENSG00000214629 Transcript ENST00000417882.1 processed_pseudogene 1/1 - - - 764 - - - - rs1000822533,COSV54216335 - 1 - HGNC HGNC:31458 - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000539909.6 protein_coding - 4/10 - - - - - - - rs1000822533,COSV54216335 - 1 - HGNC HGNC:257 NM_006721.4 - 2 P3 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000541550.6 protein_coding - 4/11 - - - - - - - rs1000822533,COSV54216335 - 1 - HGNC HGNC:257 - - 2 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672394.1 protein_coding - 5/11 - - - - - - - rs1000822533,COSV54216335 - 1 - HGNC HGNC:257 - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672429.1 protein_coding - 4/9 - - - - - - - rs1000822533,COSV54216335 - 1 - HGNC HGNC:257 - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672604.1 protein_coding - 1/5 - - - - - - - rs1000822533,COSV54216335 - 1 cds_start_NF HGNC HGNC:257 - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672920.1 nonsense_mediated_decay - 5/11 - - - - - - - rs1000822533,COSV54216335 - 1 - HGNC HGNC:257 - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673027.1 protein_coding - 3/9 - - - - - - - rs1000822533,COSV54216335 - 1 - HGNC HGNC:257 - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673310.1 nonsense_mediated_decay - 4/11 - - - - - - - rs1000822533,COSV54216335 - 1 - HGNC HGNC:257 - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673352.1 protein_coding - 4/9 - - - - - - - rs1000822533,COSV54216335 - 1 - HGNC HGNC:257 - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript NM_001123.4 protein_coding - 4/10 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript NM_001202449.2 protein_coding - 3/9 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript NM_001202450.2 protein_coding - 4/9 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript NM_001369123.1 protein_coding - 4/9 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript NM_001369124.1 protein_coding - 4/9 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript NM_006721.4 protein_coding - 4/10 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 ENST00000539909.6 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript XM_017015698.2 protein_coding - 4/9 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript XM_017015699.2 protein_coding - 1/8 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript XM_017015702.2 protein_coding - 4/9 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript XM_017015704.2 protein_coding - 4/7 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript XM_017015705.2 protein_coding - 4/8 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript XM_017015706.2 protein_coding - 4/7 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript XM_047424620.1 protein_coding - 4/9 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372298-74372298 T intron_variant MODIFIER ADK 132 Transcript XM_047424621.1 protein_coding - 4/8 - - - - - - - rs1000822533,COSV54216335 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000286621.7 protein_coding - 4/11 - - - - - - - COSV54211225 - 1 - HGNC HGNC:257 - - 1 - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000372734.5 protein_coding - 4/10 - - - - - - - COSV54211225 - 1 - HGNC HGNC:257 - - 1 A1 - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G non_coding_transcript_exon_variant MODIFIER RPSAP6 ENSG00000214629 Transcript ENST00000417882.1 processed_pseudogene 1/1 - - - 774 - - - - COSV54211225 - 1 - HGNC HGNC:31458 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000539909.6 protein_coding - 4/10 - - - - - - - COSV54211225 - 1 - HGNC HGNC:257 NM_006721.4 - 2 P3 - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000541550.6 protein_coding - 4/11 - - - - - - - COSV54211225 - 1 - HGNC HGNC:257 - - 2 - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672394.1 protein_coding - 5/11 - - - - - - - COSV54211225 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672429.1 protein_coding - 4/9 - - - - - - - COSV54211225 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672604.1 protein_coding - 1/5 - - - - - - - COSV54211225 - 1 cds_start_NF HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672920.1 nonsense_mediated_decay - 5/11 - - - - - - - COSV54211225 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673027.1 protein_coding - 3/9 - - - - - - - COSV54211225 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673310.1 nonsense_mediated_decay - 4/11 - - - - - - - COSV54211225 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673352.1 protein_coding - 4/9 - - - - - - - COSV54211225 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript NM_001123.4 protein_coding - 4/10 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript NM_001202449.2 protein_coding - 3/9 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript NM_001202450.2 protein_coding - 4/9 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript NM_001369123.1 protein_coding - 4/9 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript NM_001369124.1 protein_coding - 4/9 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript NM_006721.4 protein_coding - 4/10 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 ENST00000539909.6 - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript XM_017015698.2 protein_coding - 4/9 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript XM_017015699.2 protein_coding - 1/8 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript XM_017015702.2 protein_coding - 4/9 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript XM_017015704.2 protein_coding - 4/7 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript XM_017015705.2 protein_coding - 4/8 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript XM_017015706.2 protein_coding - 4/7 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript XM_047424620.1 protein_coding - 4/9 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372308-74372308 G intron_variant MODIFIER ADK 132 Transcript XM_047424621.1 protein_coding - 4/8 - - - - - - - COSV54211225 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - - - 1 1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000286621.7 protein_coding - 4/11 - - - - - - - rs1904067,COSV54211261 - 1 - HGNC HGNC:257 - - 1 - - Ensembl - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000372734.5 protein_coding - 4/10 - - - - - - - rs1904067,COSV54211261 - 1 - HGNC HGNC:257 - - 1 A1 - Ensembl - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C non_coding_transcript_exon_variant MODIFIER RPSAP6 ENSG00000214629 Transcript ENST00000417882.1 processed_pseudogene 1/1 - - - 870 - - - - rs1904067,COSV54211261 - 1 - HGNC HGNC:31458 - - - - - Ensembl - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000539909.6 protein_coding - 4/10 - - - - - - - rs1904067,COSV54211261 - 1 - HGNC HGNC:257 NM_006721.4 - 2 P3 - Ensembl - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000541550.6 protein_coding - 4/11 - - - - - - - rs1904067,COSV54211261 - 1 - HGNC HGNC:257 - - 2 - - Ensembl - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672394.1 protein_coding - 5/11 - - - - - - - rs1904067,COSV54211261 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672429.1 protein_coding - 4/9 - - - - - - - rs1904067,COSV54211261 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672604.1 protein_coding - 1/5 - - - - - - - rs1904067,COSV54211261 - 1 cds_start_NF HGNC HGNC:257 - - - - - Ensembl - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000672920.1 nonsense_mediated_decay - 5/11 - - - - - - - rs1904067,COSV54211261 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673027.1 protein_coding - 3/9 - - - - - - - rs1904067,COSV54211261 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant,NMD_transcript_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673310.1 nonsense_mediated_decay - 4/11 - - - - - - - rs1904067,COSV54211261 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK ENSG00000156110 Transcript ENST00000673352.1 protein_coding - 4/9 - - - - - - - rs1904067,COSV54211261 - 1 - HGNC HGNC:257 - - - - - Ensembl - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript NM_001123.4 protein_coding - 4/10 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript NM_001202449.2 protein_coding - 3/9 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript NM_001202450.2 protein_coding - 4/9 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript NM_001369123.1 protein_coding - 4/9 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript NM_001369124.1 protein_coding - 4/9 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript NM_006721.4 protein_coding - 4/10 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 ENST00000539909.6 - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript XM_017015698.2 protein_coding - 4/9 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript XM_017015699.2 protein_coding - 1/8 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript XM_017015702.2 protein_coding - 4/9 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript XM_017015704.2 protein_coding - 4/7 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript XM_017015705.2 protein_coding - 4/8 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript XM_017015706.2 protein_coding - 4/7 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript XM_047424620.1 protein_coding - 4/9 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:74372404-74372404 C intron_variant MODIFIER ADK 132 Transcript XM_047424621.1 protein_coding - 4/8 - - - - - - - rs1904067,COSV54211261 - 1 - EntrezGene HGNC:257 - - - - - RefSeq - T T - - - 0.5300 - 0,1 0,1 - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000308475.10 nonsense_mediated_decay - - - - - - - - - rs1483184088 4846 -1 - HGNC HGNC:19681 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000372700.8 protein_coding - - - - - - - - - rs1483184088 4842 -1 - HGNC HGNC:19681 - - 3 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000372702.7 protein_coding - - - - - - - - - rs1483184088 4844 -1 - HGNC HGNC:19681 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:75089590-75089590 T non_coding_transcript_exon_variant MODIFIER PPIAP13 ENSG00000237882 Transcript ENST00000434706.1 processed_pseudogene 1/1 - - - 136 - - - - rs1483184088 - -1 - HGNC HGNC:9266 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000464872.5 protein_coding - - - - - - - - - rs1483184088 4846 -1 - HGNC HGNC:19681 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000472493.6 protein_coding - - - - - - - - - rs1483184088 4842 -1 - HGNC HGNC:19681 - - 1 P2 - Ensembl - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000473072.3 protein_coding - - - - - - - - - rs1483184088 4844 -1 - HGNC HGNC:19681 - - 5 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000478873.7 protein_coding - - - - - - - - - rs1483184088 4846 -1 - HGNC HGNC:19681 NM_001363514.2 - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000479884.6 nonsense_mediated_decay - - - - - - - - - rs1483184088 4849 -1 - HGNC HGNC:19681 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000605915.5 protein_coding - - - - - - - - - rs1483184088 4846 -1 - HGNC HGNC:19681 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000707120.1 protein_coding - - - - - - - - - rs1483184088 4844 -1 - HGNC HGNC:19681 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000707121.1 protein_coding - - - - - - - - - rs1483184088 4844 -1 - HGNC HGNC:19681 - - - P2 - Ensembl - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 51207 Transcript NM_001007271.2 protein_coding - - - - - - - - - rs1483184088 4846 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 51207 Transcript NM_001007272.2 protein_coding - - - - - - - - - rs1483184088 4846 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 51207 Transcript NM_001007273.2 protein_coding - - - - - - - - - rs1483184088 4846 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 51207 Transcript NM_001320842.2 protein_coding - - - - - - - - - rs1483184088 4846 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 51207 Transcript NM_001320843.2 protein_coding - - - - - - - - - rs1483184088 4846 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 51207 Transcript NM_001363514.2 protein_coding - - - - - - - - - rs1483184088 4846 -1 - EntrezGene HGNC:19681 ENST00000478873.7 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 51207 Transcript NM_016364.3 protein_coding - - - - - - - - - rs1483184088 4844 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - C C OK - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 51207 Transcript XM_005269883.4 protein_coding - - - - - - - - - rs1483184088 4844 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 51207 Transcript XM_011539855.3 protein_coding - - - - - - - - - rs1483184088 4844 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 51207 Transcript XM_047425305.1 protein_coding - - - - - - - - - rs1483184088 4844 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 51207 Transcript XM_047425306.1 protein_coding - - - - - - - - - rs1483184088 4844 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:75089590-75089590 T downstream_gene_variant MODIFIER DUSP13 51207 Transcript XM_047425308.1 protein_coding - - - - - - - - - rs1483184088 4844 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:75089590-75089590 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000946582 enhancer - - - - - - - - - rs1483184088 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:75095654-75095654 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000308475.10 nonsense_mediated_decay 4/5 - - - 588 - - - - rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 - - 1 - - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000372700.8 protein_coding 3/4 - - - 499 465 155 D gaC/gaT rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 - - 3 A2 - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A 3_prime_UTR_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000372702.7 protein_coding 7/8 - - - 1254 - - - - rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 - - 1 - - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000394707.7 nonsense_mediated_decay 5/6 - - - 797 - - - - rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 - - 2 - - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A upstream_gene_variant MODIFIER SAMD8 ENSG00000156671 Transcript ENST00000447533.5 protein_coding - - - - - - - - - rs3740317,COSV57813357 3932 1 cds_end_NF HGNC HGNC:26320 - - 5 - - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A intron_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000464872.5 protein_coding - 2/2 - - - - - - - rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 - - 3 - - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000472493.6 protein_coding 3/4 - - - 394 315 105 D gaC/gaT rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 - - 1 P2 - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000473072.3 protein_coding 6/7 - - - 1021 972 324 D gaC/gaT rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 - - 5 A2 - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000478873.7 protein_coding 3/4 - - - 798 723 241 D gaC/gaT rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 NM_001363514.2 - 5 - - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000479884.6 nonsense_mediated_decay 6/7 - - - 1037 - - - - rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 - - 2 - - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000494588.2 nonsense_mediated_decay 6/7 - - - 1117 - - - - rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 - - 2 - - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000605915.5 protein_coding 4/5 - - - 493 381 127 D gaC/gaT rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 - - 5 - - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000607009.1 protein_coding_CDS_not_defined - - - - - - - - - rs3740317,COSV57813357 2089 -1 - HGNC HGNC:19681 - - 4 - - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000707120.1 protein_coding 5/6 - - - 717 594 198 D gaC/gaT rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 - - - - - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000707121.1 protein_coding 4/5 - - - 513 315 105 D gaC/gaT rs3740317,COSV57813357 - -1 - HGNC HGNC:19681 - - - P2 - Ensembl - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A 3_prime_UTR_variant MODIFIER DUSP13 51207 Transcript NM_001007271.2 protein_coding 7/8 - - - 1224 - - - - rs3740317,COSV57813357 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 51207 Transcript NM_001007272.2 protein_coding 3/4 - - - 499 465 155 D gaC/gaT rs3740317,COSV57813357 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 51207 Transcript NM_001007273.2 protein_coding 5/6 - - - 798 594 198 D gaC/gaT rs3740317,COSV57813357 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 51207 Transcript NM_001320842.2 protein_coding 6/7 - - - 1016 594 198 D gaC/gaT rs3740317,COSV57813357 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 51207 Transcript NM_001320843.2 protein_coding 4/5 - - - 594 315 105 D gaC/gaT rs3740317,COSV57813357 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 51207 Transcript NM_001363514.2 protein_coding 3/4 - - - 798 723 241 D gaC/gaT rs3740317,COSV57813357 - -1 - EntrezGene HGNC:19681 ENST00000478873.7 - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 51207 Transcript NM_016364.3 protein_coding 3/4 - - - 378 315 105 D gaC/gaT rs3740317,COSV57813357 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G OK - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 51207 Transcript XM_005269883.4 protein_coding 6/7 - - - 1006 972 324 D gaC/gaT rs3740317,COSV57813357 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A upstream_gene_variant MODIFIER SAMD8 142891 Transcript XM_011539312.4 protein_coding - - - - - - - - - rs3740317,COSV57813357 3939 1 - EntrezGene HGNC:26320 - - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 51207 Transcript XM_011539855.3 protein_coding 3/4 - - - 402 315 105 D gaC/gaT rs3740317,COSV57813357 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A downstream_gene_variant MODIFIER DUSP13 51207 Transcript XM_017016314.2 protein_coding - - - - - - - - - rs3740317,COSV57813357 3820 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 51207 Transcript XM_047425305.1 protein_coding 4/5 - - - 598 315 105 D gaC/gaT rs3740317,COSV57813357 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 51207 Transcript XM_047425306.1 protein_coding 3/4 - - - 337 315 105 D gaC/gaT rs3740317,COSV57813357 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095654-75095654 A synonymous_variant LOW DUSP13 51207 Transcript XM_047425308.1 protein_coding 4/5 - - - 491 315 105 D gaC/gaT rs3740317,COSV57813357 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.4213 - 0,1 0,1 - - - - - - . 10:75095663-75095663 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000308475.10 nonsense_mediated_decay 4/5 - - - 579 - - - - rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 - - 1 - - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000372700.8 protein_coding 3/4 - - - 490 456 152 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 - - 3 A2 - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A 3_prime_UTR_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000372702.7 protein_coding 7/8 - - - 1245 - - - - rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 - - 1 - - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000394707.7 nonsense_mediated_decay 5/6 - - - 788 - - - - rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 - - 2 - - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A upstream_gene_variant MODIFIER SAMD8 ENSG00000156671 Transcript ENST00000447533.5 protein_coding - - - - - - - - - rs3740316,COSV57813802,COSV57814700 3923 1 cds_end_NF HGNC HGNC:26320 - - 5 - - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A intron_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000464872.5 protein_coding - 2/2 - - - - - - - rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 - - 3 - - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000472493.6 protein_coding 3/4 - - - 385 306 102 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 - - 1 P2 - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000473072.3 protein_coding 6/7 - - - 1012 963 321 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 - - 5 A2 - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000478873.7 protein_coding 3/4 - - - 789 714 238 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 NM_001363514.2 - 5 - - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000479884.6 nonsense_mediated_decay 6/7 - - - 1028 - - - - rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 - - 2 - - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000494588.2 nonsense_mediated_decay 6/7 - - - 1108 - - - - rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 - - 2 - - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000605915.5 protein_coding 4/5 - - - 484 372 124 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 - - 5 - - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A downstream_gene_variant MODIFIER DUSP13 ENSG00000079393 Transcript ENST00000607009.1 protein_coding_CDS_not_defined - - - - - - - - - rs3740316,COSV57813802,COSV57814700 2080 -1 - HGNC HGNC:19681 - - 4 - - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000707120.1 protein_coding 5/6 - - - 708 585 195 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 - - - - - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 ENSG00000079393 Transcript ENST00000707121.1 protein_coding 4/5 - - - 504 306 102 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - HGNC HGNC:19681 - - - P2 - Ensembl - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A 3_prime_UTR_variant MODIFIER DUSP13 51207 Transcript NM_001007271.2 protein_coding 7/8 - - - 1215 - - - - rs3740316,COSV57813802,COSV57814700 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 51207 Transcript NM_001007272.2 protein_coding 3/4 - - - 490 456 152 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 51207 Transcript NM_001007273.2 protein_coding 5/6 - - - 789 585 195 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 51207 Transcript NM_001320842.2 protein_coding 6/7 - - - 1007 585 195 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 51207 Transcript NM_001320843.2 protein_coding 4/5 - - - 585 306 102 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 51207 Transcript NM_001363514.2 protein_coding 3/4 - - - 789 714 238 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - EntrezGene HGNC:19681 ENST00000478873.7 - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 51207 Transcript NM_016364.3 protein_coding 3/4 - - - 369 306 102 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G OK - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 51207 Transcript XM_005269883.4 protein_coding 6/7 - - - 997 963 321 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A upstream_gene_variant MODIFIER SAMD8 142891 Transcript XM_011539312.4 protein_coding - - - - - - - - - rs3740316,COSV57813802,COSV57814700 3930 1 - EntrezGene HGNC:26320 - - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 51207 Transcript XM_011539855.3 protein_coding 3/4 - - - 393 306 102 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A downstream_gene_variant MODIFIER DUSP13 51207 Transcript XM_017016314.2 protein_coding - - - - - - - - - rs3740316,COSV57813802,COSV57814700 3811 -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 51207 Transcript XM_047425305.1 protein_coding 4/5 - - - 589 306 102 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 51207 Transcript XM_047425306.1 protein_coding 3/4 - - - 328 306 102 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75095663-75095663 A synonymous_variant LOW DUSP13 51207 Transcript XM_047425308.1 protein_coding 4/5 - - - 482 306 102 I atC/atT rs3740316,COSV57813802,COSV57814700 - -1 - EntrezGene HGNC:19681 - - - - - RefSeq - G G - - - 0.2133 - 0,1,1 0,1,1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 ENSG00000165637 Transcript ENST00000298468.9 protein_coding 7/10 - - - 467-469 383-385 128-129 SY/Y tCTTac/tac COSV53685573 - 1 cds_end_NF HGNC HGNC:12672 - - 5 - - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 ENSG00000165637 Transcript ENST00000313132.8 protein_coding 8/11 - - - 677-679 428-430 143-144 SY/Y tCTTac/tac COSV53685573 - 1 - HGNC HGNC:12672 - - 1 - - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 ENSG00000165637 Transcript ENST00000332211.11 protein_coding 7/10 - - - 551-553 383-385 128-129 SY/Y tCTTac/tac COSV53685573 - 1 - HGNC HGNC:12672 NM_001391963.1 - 1 P1 - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 ENSG00000165637 Transcript ENST00000344036.8 protein_coding 7/7 - - - 480-482 383-385 128-129 SY/Y tCTTac/tac COSV53685573 - 1 cds_end_NF HGNC HGNC:12672 - - 3 - - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - downstream_gene_variant MODIFIER VDAC2 ENSG00000165637 Transcript ENST00000413289.1 protein_coding - - - - - - - - - COSV53685573 1573 1 cds_end_NF HGNC HGNC:12672 - - 3 - - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 ENSG00000165637 Transcript ENST00000447677.5 protein_coding 6/7 - - - 508-510 383-385 128-129 SY/Y tCTTac/tac COSV53685573 - 1 cds_end_NF HGNC HGNC:12672 - - 3 - - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - non_coding_transcript_exon_variant MODIFIER VDAC2 ENSG00000165637 Transcript ENST00000468285.1 protein_coding_CDS_not_defined 8/8 - - - 587-589 - - - - COSV53685573 - 1 - HGNC HGNC:12672 - - 2 - - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - downstream_gene_variant MODIFIER VDAC2 ENSG00000165637 Transcript ENST00000470745.5 retained_intron - - - - - - - - - COSV53685573 2531 1 - HGNC HGNC:12672 - - 3 - - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - non_coding_transcript_exon_variant MODIFIER VDAC2 ENSG00000165637 Transcript ENST00000472137.5 protein_coding_CDS_not_defined 8/9 - - - 631-633 - - - - COSV53685573 - 1 - HGNC HGNC:12672 - - 5 - - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - non_coding_transcript_exon_variant MODIFIER VDAC2 ENSG00000165637 Transcript ENST00000475142.5 retained_intron 7/7 - - - 726-728 - - - - COSV53685573 - 1 - HGNC HGNC:12672 - - 3 - - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - non_coding_transcript_exon_variant MODIFIER VDAC2 ENSG00000165637 Transcript ENST00000481876.5 retained_intron 6/6 - - - 621-623 - - - - COSV53685573 - 1 - HGNC HGNC:12672 - - 3 - - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - non_coding_transcript_exon_variant MODIFIER VDAC2 ENSG00000165637 Transcript ENST00000498394.5 protein_coding_CDS_not_defined 8/9 - - - 595-597 - - - - COSV53685573 - 1 - HGNC HGNC:12672 - - 5 - - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 ENSG00000165637 Transcript ENST00000543351.5 protein_coding 7/10 - - - 467-469 383-385 128-129 SY/Y tCTTac/tac COSV53685573 - 1 - HGNC HGNC:12672 - - 5 P1 - Ensembl - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 7417 Transcript NM_001184783.3 protein_coding 9/12 - - - 1026-1028 428-430 143-144 SY/Y tCTTac/tac COSV53685573 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 7417 Transcript NM_001184823.2 protein_coding 7/10 - - - 451-453 383-385 128-129 SY/Y tCTTac/tac COSV53685573 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 7417 Transcript NM_001324087.2 protein_coding 9/12 - - - 952-954 266-268 89-90 SY/Y tCTTac/tac COSV53685573 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 7417 Transcript NM_001324088.2 protein_coding 8/11 - - - 626-628 383-385 128-129 SY/Y tCTTac/tac COSV53685573 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 7417 Transcript NM_001324089.2 protein_coding 9/12 - - - 730-732 266-268 89-90 SY/Y tCTTac/tac COSV53685573 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 7417 Transcript NM_001324090.2 protein_coding 9/12 - - - 894-896 266-268 89-90 SY/Y tCTTac/tac COSV53685573 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 7417 Transcript NM_001391963.1 protein_coding 7/10 - - - 551-553 383-385 128-129 SY/Y tCTTac/tac COSV53685573 - 1 - EntrezGene HGNC:12672 ENST00000332211.11 - - - - RefSeq - CTT CTT - - - - - 1 1 - - - - - - . 10:75220764-75220771 - inframe_deletion MODERATE VDAC2 7417 Transcript NM_003375.5 protein_coding 8/11 - - - 848-850 383-385 128-129 SY/Y tCTTac/tac COSV53685573 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - CTT CTT - - - - - 1 1 - - - - - - . 10:75230929-75230929 C synonymous_variant LOW VDAC2 ENSG00000165637 Transcript ENST00000298468.9 protein_coding 10/10 - - - 909 825 275 D gaT/gaC rs1362327908 - 1 cds_end_NF HGNC HGNC:12672 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:75230929-75230929 C synonymous_variant LOW VDAC2 ENSG00000165637 Transcript ENST00000313132.8 protein_coding 11/11 - - - 1119 870 290 D gaT/gaC rs1362327908 - 1 - HGNC HGNC:12672 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:75230929-75230929 C synonymous_variant LOW VDAC2 ENSG00000165637 Transcript ENST00000332211.11 protein_coding 10/10 - - - 993 825 275 D gaT/gaC rs1362327908 - 1 - HGNC HGNC:12672 NM_001391963.1 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:75230929-75230929 C downstream_gene_variant MODIFIER COMTD1 ENSG00000165644 Transcript ENST00000372538.8 protein_coding - - - - - - - - - rs1362327908 2712 -1 - HGNC HGNC:26309 NM_144589.4 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:75230929-75230929 C non_coding_transcript_exon_variant MODIFIER VDAC2 ENSG00000165637 Transcript ENST00000460044.1 retained_intron 2/2 - - - 424 - - - - rs1362327908 - 1 - HGNC HGNC:12672 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:75230929-75230929 C downstream_gene_variant MODIFIER COMTD1 ENSG00000165644 Transcript ENST00000460899.5 protein_coding_CDS_not_defined - - - - - - - - - rs1362327908 3042 -1 - HGNC HGNC:26309 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:75230929-75230929 C downstream_gene_variant MODIFIER COMTD1 ENSG00000165644 Transcript ENST00000469299.1 protein_coding - - - - - - - - - rs1362327908 3055 -1 cds_start_NF HGNC HGNC:26309 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:75230929-75230929 C downstream_gene_variant MODIFIER COMTD1 ENSG00000165644 Transcript ENST00000470947.5 protein_coding_CDS_not_defined - - - - - - - - - rs1362327908 3055 -1 - HGNC HGNC:26309 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:75230929-75230929 C downstream_gene_variant MODIFIER COMTD1 ENSG00000165644 Transcript ENST00000490521.1 protein_coding_CDS_not_defined - - - - - - - - - rs1362327908 3497 -1 - HGNC HGNC:26309 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:75230929-75230929 C downstream_gene_variant MODIFIER COMTD1 ENSG00000165644 Transcript ENST00000491270.1 protein_coding_CDS_not_defined - - - - - - - - - rs1362327908 4386 -1 - HGNC HGNC:26309 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:75230929-75230929 C downstream_gene_variant MODIFIER COMTD1 ENSG00000165644 Transcript ENST00000494596.5 protein_coding_CDS_not_defined - - - - - - - - - rs1362327908 3049 -1 - HGNC HGNC:26309 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:75230929-75230929 C synonymous_variant LOW VDAC2 ENSG00000165637 Transcript ENST00000543351.5 protein_coding 10/10 - - - 909 825 275 D gaT/gaC rs1362327908 - 1 - HGNC HGNC:12672 - - 5 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:75230929-75230929 C synonymous_variant LOW VDAC2 7417 Transcript NM_001184783.3 protein_coding 12/12 - - - 1468 870 290 D gaT/gaC rs1362327908 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:75230929-75230929 C synonymous_variant LOW VDAC2 7417 Transcript NM_001184823.2 protein_coding 10/10 - - - 893 825 275 D gaT/gaC rs1362327908 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:75230929-75230929 C synonymous_variant LOW VDAC2 7417 Transcript NM_001324087.2 protein_coding 12/12 - - - 1394 708 236 D gaT/gaC rs1362327908 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:75230929-75230929 C synonymous_variant LOW VDAC2 7417 Transcript NM_001324088.2 protein_coding 11/11 - - - 1068 825 275 D gaT/gaC rs1362327908 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:75230929-75230929 C synonymous_variant LOW VDAC2 7417 Transcript NM_001324089.2 protein_coding 12/12 - - - 1172 708 236 D gaT/gaC rs1362327908 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:75230929-75230929 C synonymous_variant LOW VDAC2 7417 Transcript NM_001324090.2 protein_coding 12/12 - - - 1336 708 236 D gaT/gaC rs1362327908 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:75230929-75230929 C synonymous_variant LOW VDAC2 7417 Transcript NM_001391963.1 protein_coding 10/10 - - - 993 825 275 D gaT/gaC rs1362327908 - 1 - EntrezGene HGNC:12672 ENST00000332211.11 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:75230929-75230929 C synonymous_variant LOW VDAC2 7417 Transcript NM_003375.5 protein_coding 11/11 - - - 1290 825 275 D gaT/gaC rs1362327908 - 1 - EntrezGene HGNC:12672 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:75230929-75230929 C downstream_gene_variant MODIFIER COMTD1 118881 Transcript NM_144589.4 protein_coding - - - - - - - - - rs1362327908 2712 -1 - EntrezGene HGNC:26309 ENST00000372538.8 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:75230929-75230929 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000408318 CTCF_binding_site - - - - - - - - - rs1362327908 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:75230929-75230929 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00143350915 - - - - - - - - - - rs1362327908 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0205 6 N 0.030 ETV2::FOXI1,ERF::FOXI1,FOXO1::ELF1,FOXO1::ELK1,FLI1::FOXI1,ETV5::FOXI1,FOXJ2::ELF1,ERF::FOXO1,FOXO1::ELK3,FOXO1::ETV4,FOXO1::FLI1,ETV5::FOXO1 . 10:76127195-76127195 A intron_variant MODIFIER LRMDA ENSG00000148655 Transcript ENST00000372499.5 protein_coding - 4/5 - - - - - - - rs10762694 - 1 - HGNC HGNC:23405 - - 1 - - Ensembl - C C - - - 0.4367 - - - - - - - - - . 10:76127195-76127195 A intron_variant,non_coding_transcript_variant MODIFIER LRMDA ENSG00000148655 Transcript ENST00000593699.5 protein_coding_CDS_not_defined - 6/7 - - - - - - - rs10762694 - 1 - HGNC HGNC:23405 - - 1 - - Ensembl - C C - - - 0.4367 - - - - - - - - - . 10:76127195-76127195 A intron_variant MODIFIER LRMDA ENSG00000148655 Transcript ENST00000611255.5 protein_coding - 5/6 - - - - - - - rs10762694 - 1 - HGNC HGNC:23405 NM_001305581.2 - 5 P1 - Ensembl - C C - - - 0.4367 - - - - - - - - - . 10:76127195-76127195 A intron_variant MODIFIER LRMDA 83938 Transcript NM_001305581.2 protein_coding - 5/6 - - - - - - - rs10762694 - 1 - EntrezGene HGNC:23405 ENST00000611255.5 - - - - RefSeq - C C - - - 0.4367 - - - - - - - - - . 10:76127195-76127195 A intron_variant MODIFIER LRMDA 83938 Transcript NM_032024.5 protein_coding - 4/5 - - - - - - - rs10762694 - 1 - EntrezGene HGNC:23405 - - - - - RefSeq - C C - - - 0.4367 - - - - - - - - - . 10:76127195-76127195 A intron_variant,non_coding_transcript_variant MODIFIER LRMDA 83938 Transcript NR_131178.2 misc_RNA - 6/7 - - - - - - - rs10762694 - 1 - EntrezGene HGNC:23405 - - - - - RefSeq - C C - - - 0.4367 - - - - - - - - - . 10:76127195-76127195 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000408568 enhancer - - - - - - - - - rs10762694 - - - - - - - - - - - - - - - - - 0.4367 - - - - - - - - - . 10:76127210-76127210 T intron_variant MODIFIER LRMDA ENSG00000148655 Transcript ENST00000372499.5 protein_coding - 4/5 - - - - - - - rs10762695 - 1 - HGNC HGNC:23405 - - 1 - - Ensembl - A A - - - 0.4349 - - - - - - - - - . 10:76127210-76127210 T intron_variant,non_coding_transcript_variant MODIFIER LRMDA ENSG00000148655 Transcript ENST00000593699.5 protein_coding_CDS_not_defined - 6/7 - - - - - - - rs10762695 - 1 - HGNC HGNC:23405 - - 1 - - Ensembl - A A - - - 0.4349 - - - - - - - - - . 10:76127210-76127210 T intron_variant MODIFIER LRMDA ENSG00000148655 Transcript ENST00000611255.5 protein_coding - 5/6 - - - - - - - rs10762695 - 1 - HGNC HGNC:23405 NM_001305581.2 - 5 P1 - Ensembl - A A - - - 0.4349 - - - - - - - - - . 10:76127210-76127210 T intron_variant MODIFIER LRMDA 83938 Transcript NM_001305581.2 protein_coding - 5/6 - - - - - - - rs10762695 - 1 - EntrezGene HGNC:23405 ENST00000611255.5 - - - - RefSeq - A A - - - 0.4349 - - - - - - - - - . 10:76127210-76127210 T intron_variant MODIFIER LRMDA 83938 Transcript NM_032024.5 protein_coding - 4/5 - - - - - - - rs10762695 - 1 - EntrezGene HGNC:23405 - - - - - RefSeq - A A - - - 0.4349 - - - - - - - - - . 10:76127210-76127210 T intron_variant,non_coding_transcript_variant MODIFIER LRMDA 83938 Transcript NR_131178.2 misc_RNA - 6/7 - - - - - - - rs10762695 - 1 - EntrezGene HGNC:23405 - - - - - RefSeq - A A - - - 0.4349 - - - - - - - - - . 10:76127210-76127210 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000408568 enhancer - - - - - - - - - rs10762695 - - - - - - - - - - - - - - - - - 0.4349 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000286627.10 protein_coding - 21/26 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 1 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000286628.14 protein_coding - 22/27 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 NM_001161352.2 - 1 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000354353.9 protein_coding - 22/27 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000372403.9 protein_coding - 21/29 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000372408.7 protein_coding - 22/30 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000372421.10 protein_coding - 22/29 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000372437.6 protein_coding - 24/31 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000372440.6 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000372443.6 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000404771.8 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000404857.6 protein_coding - 22/28 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000406533.7 protein_coding - 21/27 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1-AS1 ENSG00000236467 Transcript ENST00000426234.5 lncRNA - 4/4 - - - - - - - rs55736648 - 1 - HGNC HGNC:51213 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000434208.6 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000457953.6 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1-AS1 ENSG00000236467 Transcript ENST00000458661.6 lncRNA - 2/3 - - - - - - - rs55736648 - 1 - HGNC HGNC:51213 - - 3 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1-AS1 ENSG00000236467 Transcript ENST00000598613.1 lncRNA - 1/1 - - - - - - - rs55736648 - 1 - HGNC HGNC:51213 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1-AS1 ENSG00000236467 Transcript ENST00000600782.5 lncRNA - 2/4 - - - - - - - rs55736648 - 1 - HGNC HGNC:51213 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000604624.6 protein_coding - 21/27 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 1 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1-AS1 ENSG00000236467 Transcript ENST00000608791.2 lncRNA - 2/2 - - - - - - - rs55736648 - 1 - HGNC HGNC:51213 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T non_coding_transcript_exon_variant MODIFIER KCNMA1-AS1 ENSG00000236467 Transcript ENST00000611475.2 lncRNA 2/2 - - - 223 - - - - rs55736648 - 1 - HGNC HGNC:51213 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1-AS1 ENSG00000236467 Transcript ENST00000617241.1 lncRNA - 1/1 - - - - - - - rs55736648 - 1 - HGNC HGNC:51213 - - 3 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000626620.3 protein_coding - 22/27 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 1 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638203.1 protein_coding - 21/28 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638223.1 protein_coding - 23/30 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638252.1 protein_coding - 21/27 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638283.1 protein_coding - 22/29 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638306.1 protein_coding - 21/27 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638351.1 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T downstream_gene_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638361.1 protein_coding_CDS_not_defined - - - - - - - - - rs55736648 80 -1 - HGNC HGNC:6284 - - 4 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638370.1 protein_coding_CDS_not_defined - 6/9 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638514.1 protein_coding - 22/27 - - - - - - - rs55736648 - -1 cds_end_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638575.1 protein_coding - 23/28 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638606.1 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638632.1 retained_intron - 21/25 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,NMD_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638751.1 nonsense_mediated_decay - 19/24 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638754.1 protein_coding - 19/25 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638759.1 protein_coding - 23/28 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638848.1 protein_coding - 23/29 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638895.1 protein_coding - 23/30 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638991.1 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638999.1 protein_coding_CDS_not_defined - 18/22 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639069.1 protein_coding_CDS_not_defined - 21/29 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639090.1 protein_coding - 21/28 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 P3 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639205.1 protein_coding - 22/29 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639321.1 retained_intron - 3/9 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639344.1 protein_coding - 22/29 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639370.1 protein_coding - 23/30 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639406.1 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 1 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,NMD_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639483.1 nonsense_mediated_decay - 20/26 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639486.1 protein_coding - 21/27 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639489.1 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639498.1 protein_coding - 22/30 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639544.1 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639591.1 protein_coding - 23/30 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639601.1 protein_coding - 21/27 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639657.1 retained_intron - 4/12 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,NMD_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639691.1 nonsense_mediated_decay - 18/24 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 1 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639716.1 protein_coding - 8/13 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639730.1 protein_coding - 19/25 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639823.1 protein_coding - 23/28 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639851.1 protein_coding_CDS_not_defined - 23/29 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 1 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639913.1 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,NMD_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639968.1 nonsense_mediated_decay - 25/32 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,NMD_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639995.1 nonsense_mediated_decay - 19/25 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640029.1 protein_coding - 24/30 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,NMD_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640093.1 nonsense_mediated_decay - 22/28 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640141.1 protein_coding - 22/27 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640182.1 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640353.1 protein_coding - 18/23 - - - - - - - rs55736648 - -1 cds_start_NF,cds_end_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640523.1 protein_coding - 24/30 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640570.1 protein_coding_CDS_not_defined - 22/29 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640605.1 protein_coding - 23/30 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640626.1 protein_coding - 21/28 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640773.1 protein_coding - 23/28 - - - - - - - rs55736648 - -1 cds_start_NF,cds_end_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640807.1 protein_coding - 21/27 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 1 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640834.1 protein_coding - 21/26 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640934.1 protein_coding - 23/29 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640969.1 protein_coding - 22/27 - - - - - - - rs55736648 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000707137.1 protein_coding - 21/28 - - - - - - - rs55736648 - -1 cds_start_NF HGNC HGNC:6284 - - - - - Ensembl - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_001014797.3 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_001161352.2 protein_coding - 22/27 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 ENST00000286628.14 - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_001161353.2 protein_coding - 22/27 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_001271518.2 protein_coding - 21/27 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_001271519.2 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_001322829.2 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_001322830.2 protein_coding - 23/30 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_001322832.2 protein_coding - 21/27 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_001322835.2 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_001322836.2 protein_coding - 22/27 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_001322837.2 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_001322838.2 protein_coding - 23/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript NM_002247.4 protein_coding - 21/26 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant,non_coding_transcript_variant MODIFIER KCNMA1-AS1 101929328 Transcript NR_120655.1 lncRNA - 2/3 - - - - - - - rs55736648 - 1 - EntrezGene HGNC:51213 - - - - - RefSeq - G G OK - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_005269776.5 protein_coding - 21/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_005269778.3 protein_coding - 23/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_005269781.3 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_005269787.5 protein_coding - 21/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_005269789.3 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_005269792.3 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_005269796.3 protein_coding - 21/27 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_006717826.3 protein_coding - 21/27 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_011539773.3 protein_coding - 24/30 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_011539774.3 protein_coding - 24/30 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_011539775.3 protein_coding - 23/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_011539777.3 protein_coding - 23/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_011539778.3 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_011539780.3 protein_coding - 23/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_011539781.4 protein_coding - 23/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_011539782.3 protein_coding - 22/27 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_011539783.3 protein_coding - 23/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_011539785.3 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_017016207.3 protein_coding - 24/31 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_017016208.3 protein_coding - 24/31 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_017016209.3 protein_coding - 23/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_017016210.3 protein_coding - 24/30 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_017016211.3 protein_coding - 24/30 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_017016213.3 protein_coding - 23/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_017016214.3 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_017016217.2 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_017016222.3 protein_coding - 21/27 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_017016223.1 protein_coding - 20/26 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_024447984.2 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_024447985.2 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_024447986.2 protein_coding - 23/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_024447987.2 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_024447988.2 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_024447989.2 protein_coding - 22/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_024447990.2 protein_coding - 21/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_047425195.1 protein_coding - 23/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_047425196.1 protein_coding - 23/29 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_047425197.1 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_047425199.1 protein_coding - 22/28 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T intron_variant MODIFIER KCNMA1 3778 Transcript XM_047425200.1 protein_coding - 20/25 - - - - - - - rs55736648 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:76949082-76949082 T non_coding_transcript_exon_variant MODIFIER LOC124902466 124902466 Transcript XR_007062207.1 lncRNA 3/3 - - - 497 - - - - rs55736648 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.0010 - - - - - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000286627.10 protein_coding 4/27 - - - 947 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 1 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000286628.14 protein_coding 4/28 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 NM_001161352.2 - 1 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000354353.9 protein_coding 3/28 - - - 311 183 61 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000372403.9 protein_coding 4/30 - - - 492 492 164 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000372408.7 protein_coding 4/31 - - - 492 492 164 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000372421.10 protein_coding 4/30 - - - 608 609 203 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000372437.6 protein_coding 4/32 - - - 498 498 166 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000372440.6 protein_coding 4/30 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000372443.6 protein_coding 4/30 - - - 1414 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000404771.8 protein_coding 4/30 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000404857.6 protein_coding 4/29 - - - 492 492 164 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000406533.7 protein_coding 3/28 - - - 311 183 61 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000434208.6 protein_coding 4/29 - - - 687 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000457953.6 protein_coding 4/29 - - - 811 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000604624.6 protein_coding 3/28 - - - 270 270 90 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 1 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000626620.3 protein_coding 4/28 - - - 687 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 1 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638203.1 protein_coding 4/29 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638223.1 protein_coding 4/31 - - - 687 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant,NMD_transcript_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638249.1 nonsense_mediated_decay 4/15 - - - 380 381 127 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638252.1 protein_coding 4/28 - - - 492 492 164 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638283.1 protein_coding 3/30 - - - 309 309 103 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638306.1 protein_coding 4/28 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638351.1 protein_coding 4/30 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638506.1 nonsense_mediated_decay 6/18 - - - 758 - - - - rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638514.1 protein_coding 5/28 - - - 937 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 cds_end_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638575.1 protein_coding 4/29 - - - 687 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638606.1 protein_coding 4/30 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A non_coding_transcript_exon_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638632.1 retained_intron 3/26 - - - 199 - - - - rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A intron_variant,NMD_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000638751.1 nonsense_mediated_decay - 2/24 - - - - - - - rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638754.1 protein_coding 3/26 - - - 309 309 103 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638759.1 protein_coding 4/29 - - - 687 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638848.1 protein_coding 4/30 - - - 767 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638895.1 protein_coding 4/31 - - - 643 645 215 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000638991.1 protein_coding 4/29 - - - 864 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A non_coding_transcript_exon_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639069.1 protein_coding_CDS_not_defined 3/30 - - - 311 - - - - rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639090.1 protein_coding 4/29 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 P3 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639120.1 protein_coding 4/15 - - - 776 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639205.1 protein_coding 4/30 - - - 492 492 164 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639344.1 protein_coding 4/30 - - - 539 540 180 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639370.1 protein_coding 4/31 - - - 613 615 205 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639406.1 protein_coding 4/29 - - - 767 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 1 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant,NMD_transcript_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639483.1 nonsense_mediated_decay 4/27 - - - 992 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639486.1 protein_coding 4/28 - - - 1038 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639489.1 protein_coding 4/29 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639498.1 protein_coding 4/31 - - - 492 492 164 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639544.1 protein_coding 4/29 - - - 687 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639591.1 protein_coding 4/31 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639601.1 protein_coding 4/28 - - - 803 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A upstream_gene_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639691.1 nonsense_mediated_decay - - - - - - - - - rs1131824,COSV54248693 1353 -1 cds_start_NF HGNC HGNC:6284 - - 1 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639730.1 protein_coding 1/26 - - - 44 45 15 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639823.1 protein_coding 4/29 - - - 492 492 164 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A non_coding_transcript_exon_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000639851.1 protein_coding_CDS_not_defined 5/30 - - - 824 - - - - rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 1 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639913.1 protein_coding 4/30 - - - 864 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant,NMD_transcript_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639968.1 nonsense_mediated_decay 4/33 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant,NMD_transcript_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000639995.1 nonsense_mediated_decay 4/26 - - - 507 507 169 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640029.1 protein_coding 4/31 - - - 492 492 164 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant,NMD_transcript_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640093.1 nonsense_mediated_decay 4/29 - - - 492 492 164 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640141.1 protein_coding 4/28 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640182.1 protein_coding 4/30 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A non_coding_transcript_exon_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640311.1 protein_coding_CDS_not_defined 5/6 - - - 828 - - - - rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 3 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640353.1 protein_coding 3/24 - - - 307 309 103 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF,cds_end_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640386.1 nonsense_mediated_decay 4/18 - - - 424 - - - - rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640523.1 protein_coding 4/31 - - - 1160 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A non_coding_transcript_exon_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640570.1 protein_coding_CDS_not_defined 3/30 - - - 289 - - - - rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640605.1 protein_coding 4/31 - - - 820 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640626.1 protein_coding 3/29 - - - 330 330 110 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640773.1 protein_coding 4/29 - - - 613 615 205 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF,cds_end_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640807.1 protein_coding 3/28 - - - 525 525 175 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 1 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A non_coding_transcript_exon_variant MODIFIER KCNMA1 ENSG00000156113 Transcript ENST00000640824.1 protein_coding_CDS_not_defined 3/4 - - - 580 - - - - rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 4 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640834.1 protein_coding 4/27 - - - 783 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640934.1 protein_coding 4/30 - - - 492 492 164 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - 5 - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000640969.1 protein_coding 4/28 - - - 851 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - HGNC HGNC:6284 - - 5 A2 - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000707137.1 protein_coding 3/29 - - - 311 312 104 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF HGNC HGNC:6284 - - - - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 ENSG00000156113 Transcript ENST00000707138.1 protein_coding 1/17 - - - 79 81 27 F ttC/ttT rs1131824,COSV54248693 - -1 cds_start_NF,cds_end_NF HGNC HGNC:6284 - - - - - Ensembl - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_001014797.3 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_001161352.2 protein_coding 4/28 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 ENST00000286628.14 - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_001161353.2 protein_coding 4/28 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_001271518.2 protein_coding 3/28 - - - 691 525 175 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_001271519.2 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_001322829.2 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_001322830.2 protein_coding 4/31 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_001322832.2 protein_coding 4/28 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_001322835.2 protein_coding 4/30 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_001322836.2 protein_coding 4/28 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_001322837.2 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_001322838.2 protein_coding 5/30 - - - 824 147 49 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript NM_002247.4 protein_coding 4/27 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_005269776.5 protein_coding 4/30 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_005269778.3 protein_coding 4/30 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_005269781.3 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_005269787.5 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_005269789.3 protein_coding 4/30 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_005269792.3 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_005269796.3 protein_coding 4/28 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_006717826.3 protein_coding 4/28 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_011539773.3 protein_coding 5/31 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_011539774.3 protein_coding 5/31 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_011539775.3 protein_coding 5/30 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_011539777.3 protein_coding 4/30 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_011539778.3 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_011539780.3 protein_coding 4/30 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_011539781.4 protein_coding 5/30 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_011539782.3 protein_coding 5/28 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_011539783.3 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_011539784.3 protein_coding 5/19 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_011539785.3 protein_coding 4/30 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_017016207.3 protein_coding 5/32 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_017016208.3 protein_coding 5/32 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_017016209.3 protein_coding 5/30 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_017016210.3 protein_coding 5/31 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_017016211.3 protein_coding 5/31 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_017016213.3 protein_coding 5/30 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_017016214.3 protein_coding 5/29 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_017016217.2 protein_coding 5/29 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_017016219.3 protein_coding 5/21 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_017016222.3 protein_coding 4/28 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_017016223.1 protein_coding 2/27 - - - 162 147 49 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_024447984.2 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_024447985.2 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_024447986.2 protein_coding 4/30 - - - 13142 213 71 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_024447987.2 protein_coding 4/30 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_024447988.2 protein_coding 4/30 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_024447989.2 protein_coding 4/30 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_024447990.2 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_047425195.1 protein_coding 5/30 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_047425196.1 protein_coding 5/30 - - - 985 819 273 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_047425197.1 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_047425199.1 protein_coding 4/29 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_047425200.1 protein_coding 3/26 - - - 315 186 62 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77184832-77184832 A synonymous_variant LOW KCNMA1 3778 Transcript XM_047425201.1 protein_coding 4/18 - - - 853 687 229 F ttC/ttT rs1131824,COSV54248693 - -1 - EntrezGene HGNC:6284 - - - - - RefSeq - G G - - - 0.4059 benign 0,1 1,1 34224328 - - - - - . 10:77732959-77732959 G non_coding_transcript_exon_variant MODIFIER - ENSG00000213514 Transcript ENST00000394628.2 processed_pseudogene 2/2 - - - 1901 - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:77732970-77732970 C non_coding_transcript_exon_variant MODIFIER - ENSG00000213514 Transcript ENST00000394628.2 processed_pseudogene 2/2 - - - 1912 - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:77733701-77733701 C non_coding_transcript_exon_variant MODIFIER - ENSG00000213514 Transcript ENST00000394628.2 processed_pseudogene 2/2 - - - 2643 - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:77733701-77733701 C upstream_gene_variant MODIFIER - ENSG00000277981 Transcript ENST00000615610.1 unprocessed_pseudogene - - - - - - - - - - 4545 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:77733919-77733919 A non_coding_transcript_exon_variant MODIFIER - ENSG00000213514 Transcript ENST00000394628.2 processed_pseudogene 2/2 - - - 2861 - - - - - - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:77733919-77733919 A upstream_gene_variant MODIFIER - ENSG00000277981 Transcript ENST00000615610.1 unprocessed_pseudogene - - - - - - - - - - 4327 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:77733970-77733970 T non_coding_transcript_exon_variant MODIFIER - ENSG00000213514 Transcript ENST00000394628.2 processed_pseudogene 2/2 - - - 2912 - - - - rs1396384754 - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:77733970-77733970 T upstream_gene_variant MODIFIER - ENSG00000277981 Transcript ENST00000615610.1 unprocessed_pseudogene - - - - - - - - - rs1396384754 4276 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:77733981-77733981 G non_coding_transcript_exon_variant MODIFIER - ENSG00000213514 Transcript ENST00000394628.2 processed_pseudogene 2/2 - - - 2923 - - - - - - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:77733981-77733981 G upstream_gene_variant MODIFIER - ENSG00000277981 Transcript ENST00000615610.1 unprocessed_pseudogene - - - - - - - - - - 4265 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:79506307-79506307 T upstream_gene_variant MODIFIER - ENSG00000241317 Transcript ENST00000456546.1 lncRNA - - - - - - - - - rs1250777 26 -1 - - - - - 3 - - Ensembl - A A - - - 0.7772 - - - - - - - - - . 10:79506307-79506307 T downstream_gene_variant MODIFIER - ENSG00000235705 Transcript ENST00000538322.2 processed_transcript - - - - - - - - - rs1250777 1290 -1 - - - - - 2 - - Ensembl - A A - - - 0.7772 - - - - - - - - - . 10:79506307-79506307 T downstream_gene_variant MODIFIER - ENSG00000235705 Transcript ENST00000607558.1 transcribed_processed_pseudogene - - - - - - - - - rs1250777 4238 -1 - - - - - - - - Ensembl - A A - - - 0.7772 - - - - - - - - - . 10:79506307-79506307 T downstream_gene_variant MODIFIER - ENSG00000235705 Transcript ENST00000618258.1 processed_transcript - - - - - - - - - rs1250777 1387 -1 - - - - - 3 - - Ensembl - A A - - - 0.7772 - - - - - - - - - . 10:79506307-79506307 T downstream_gene_variant MODIFIER - ENSG00000235705 Transcript ENST00000648988.1 processed_transcript - - - - - - - - - rs1250777 1296 -1 - - - - - - - - Ensembl - A A - - - 0.7772 - - - - - - - - - . 10:79506307-79506307 T downstream_gene_variant MODIFIER LOC729815 729815 Transcript NR_136624.1 lncRNA - - - - - - - - - rs1250777 63 -1 - EntrezGene - - - - - - RefSeq - A A - - - 0.7772 - - - - - - - - - . 10:79506307-79506307 T downstream_gene_variant MODIFIER LOC729815 729815 Transcript NR_136625.1 lncRNA - - - - - - - - - rs1250777 1296 -1 - EntrezGene - - - - - - RefSeq - A A - - - 0.7772 - - - - - - - - - . 10:79510563-79510563 A upstream_gene_variant MODIFIER - ENSG00000241317 Transcript ENST00000456546.1 lncRNA - - - - - - - - - rs3867204 4282 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:79510563-79510563 A upstream_gene_variant MODIFIER EIF5AL1 ENSG00000253626 Transcript ENST00000520547.4 protein_coding - - - - - - - - - rs3867204 1970 1 - HGNC HGNC:17419 NM_001099692.2 - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:79510563-79510563 A non_coding_transcript_exon_variant MODIFIER - ENSG00000235705 Transcript ENST00000538322.2 processed_transcript 2/3 - - - 144 - - - - rs3867204 - -1 - - - - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:79510563-79510563 A non_coding_transcript_exon_variant MODIFIER - ENSG00000235705 Transcript ENST00000607558.1 transcribed_processed_pseudogene 1/1 - - - 121 - - - - rs3867204 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:79510563-79510563 A upstream_gene_variant MODIFIER - ENSG00000235705 Transcript ENST00000618258.1 processed_transcript - - - - - - - - - rs3867204 3 -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:79510563-79510563 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000235705 Transcript ENST00000648988.1 processed_transcript - 2/2 - - - - - - - rs3867204 - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:79510563-79510563 A upstream_gene_variant MODIFIER EIF5AL1 143244 Transcript NM_001099692.2 protein_coding - - - - - - - - - rs3867204 1970 1 - EntrezGene HGNC:17419 ENST00000520547.4 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:79510563-79510563 A non_coding_transcript_exon_variant MODIFIER LOC729815 729815 Transcript NR_136624.1 lncRNA 2/3 - - - 204 - - - - rs3867204 - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:79510563-79510563 A intron_variant,non_coding_transcript_variant MODIFIER LOC729815 729815 Transcript NR_136625.1 lncRNA - 2/2 - - - - - - - rs3867204 - -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:79510563-79510563 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000947170 enhancer - - - - - - - - - rs3867204 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:79510669-79510671 G upstream_gene_variant MODIFIER - ENSG00000241317 Transcript ENST00000456546.1 lncRNA - - - - - - - - - - 4390 -1 - - - - - 3 - - Ensembl - - - - - - - - - - - - - - - - . 10:79510669-79510671 G upstream_gene_variant MODIFIER EIF5AL1 ENSG00000253626 Transcript ENST00000520547.4 protein_coding - - - - - - - - - - 1861 1 - HGNC HGNC:17419 NM_001099692.2 - - P1 - Ensembl - - - - - - - - - - - - - - - - . 10:79510669-79510671 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000235705 Transcript ENST00000538322.2 processed_transcript - 1/2 - - - - - - - - - -1 - - - - - 2 - - Ensembl - - - - - - - - - - - - - - - - . 10:79510669-79510671 G non_coding_transcript_exon_variant MODIFIER - ENSG00000235705 Transcript ENST00000607558.1 transcribed_processed_pseudogene 1/1 - - - 12-13 - - - - - - -1 - - - - - - - - Ensembl - - - - - - - - - - - - - - - - . 10:79510669-79510671 G upstream_gene_variant MODIFIER - ENSG00000235705 Transcript ENST00000618258.1 processed_transcript - - - - - - - - - - 111 -1 - - - - - 3 - - Ensembl - - - - - - - - - - - - - - - - . 10:79510669-79510671 G non_coding_transcript_exon_variant MODIFIER - ENSG00000235705 Transcript ENST00000648988.1 processed_transcript 2/3 - - - 201-202 - - - - - - -1 - - - - - - - - Ensembl - - - - - - - - - - - - - - - - . 10:79510669-79510671 G upstream_gene_variant MODIFIER EIF5AL1 143244 Transcript NM_001099692.2 protein_coding - - - - - - - - - - 1861 1 - EntrezGene HGNC:17419 ENST00000520547.4 - - - - RefSeq - - - - - - - - - - - - - - - - . 10:79510669-79510671 G intron_variant,non_coding_transcript_variant MODIFIER LOC729815 729815 Transcript NR_136624.1 lncRNA - 1/2 - - - - - - - - - -1 - EntrezGene - - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:79510669-79510671 G non_coding_transcript_exon_variant MODIFIER LOC729815 729815 Transcript NR_136625.1 lncRNA 2/3 - - - 201-202 - - - - - - -1 - EntrezGene - - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:79510669-79510671 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000947170 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:79513058-79513058 C missense_variant MODERATE EIF5AL1 ENSG00000253626 Transcript ENST00000520547.4 protein_coding 1/1 - - - 526 409 137 V/L Gtg/Ctg rs200388618,COSV73122909 - 1 - HGNC HGNC:17419 NM_001099692.2 - - P1 - Ensembl - G G - deleterious_low_confidence(0.01) benign(0.061) - - 0,1 0,1 - - - - - - . 10:79513058-79513058 C upstream_gene_variant MODIFIER - ENSG00000235705 Transcript ENST00000538322.2 processed_transcript - - - - - - - - - rs200388618,COSV73122909 2136 -1 - - - - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:79513058-79513058 C upstream_gene_variant MODIFIER - ENSG00000235705 Transcript ENST00000607558.1 transcribed_processed_pseudogene - - - - - - - - - rs200388618,COSV73122909 2375 -1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:79513058-79513058 C upstream_gene_variant MODIFIER - ENSG00000235705 Transcript ENST00000618258.1 processed_transcript - - - - - - - - - rs200388618,COSV73122909 2498 -1 - - - - - 3 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:79513058-79513058 C upstream_gene_variant MODIFIER - ENSG00000235705 Transcript ENST00000648988.1 processed_transcript - - - - - - - - - rs200388618,COSV73122909 2076 -1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:79513058-79513058 C missense_variant MODERATE EIF5AL1 143244 Transcript NM_001099692.2 protein_coding 1/1 - - - 526 409 137 V/L Gtg/Ctg rs200388618,COSV73122909 - 1 - EntrezGene HGNC:17419 ENST00000520547.4 - - - - RefSeq - G G - deleterious_low_confidence(0.01) benign(0.061) - - 0,1 0,1 - - - - - - . 10:79513058-79513058 C upstream_gene_variant MODIFIER LOC729815 729815 Transcript NR_136624.1 lncRNA - - - - - - - - - rs200388618,COSV73122909 2076 -1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:79513058-79513058 C upstream_gene_variant MODIFIER LOC729815 729815 Transcript NR_136625.1 lncRNA - - - - - - - - - rs200388618,COSV73122909 2076 -1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 ENSG00000185303 Transcript ENST00000372325.7 protein_coding 6/6 - - - 764 667 223 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - HGNC HGNC:10799 NM_001098668.4 - 1 P1 - Ensembl - G G - tolerated(1) benign(0) 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 ENSG00000185303 Transcript ENST00000372327.9 protein_coding 5/5 - - - 713 667 223 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - HGNC HGNC:10799 - - 1 P1 - Ensembl - G G - tolerated(1) benign(0) 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T downstream_gene_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000417041.1 protein_coding - - - - - - - - - rs1965708,CM067027,COSV64882436 193 -1 cds_end_NF HGNC HGNC:10799 - - 5 - - Ensembl - G G - - - 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T downstream_gene_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000492049.1 protein_coding - - - - - - - - - rs1965708,CM067027,COSV64882436 1596 -1 cds_end_NF HGNC HGNC:10799 - - 5 - - Ensembl - G G - - - 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T downstream_gene_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000640627.1 protein_coding - - - - - - - - - rs1965708,CM067027,COSV64882436 2125 -1 - HGNC HGNC:10799 - - 1 - - Ensembl - G G - - - 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 729238 Transcript NM_001098668.4 protein_coding 6/6 - - - 764 667 223 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - EntrezGene HGNC:10799 ENST00000372325.7 - - - - RefSeq - G G - tolerated(1) benign(0) 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 729238 Transcript NM_001320813.2 protein_coding 6/6 - - - 767 667 223 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - tolerated(1) benign(0) 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 729238 Transcript NM_001320814.1 protein_coding 5/5 - - - 887 697 233 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G OK tolerated(1) benign(0) 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 729238 Transcript XM_005270128.4 protein_coding 6/6 - - - 804 718 240 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 729238 Transcript XM_005270132.4 protein_coding 5/5 - - - 734 667 223 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - tolerated(1) benign(0) 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 729238 Transcript XM_011540125.2 protein_coding 6/6 - - - 857 667 223 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - tolerated(1) benign(0) 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 729238 Transcript XM_017016608.2 protein_coding 6/6 - - - 807 721 241 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 729238 Transcript XM_047425703.1 protein_coding 6/6 - - - 900 721 241 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 729238 Transcript XM_047425704.1 protein_coding 6/6 - - - 897 718 240 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 729238 Transcript XM_047425705.1 protein_coding 7/7 - - - 864 712 238 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557289-79557289 T missense_variant MODERATE SFTPA2 729238 Transcript XM_047425706.1 protein_coding 6/6 - - - 860 667 223 Q/K Cag/Aag rs1965708,CM067027,COSV64882436 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - tolerated(1) benign(0) 0.2548 benign 0,0,1 1,1,1 24033266,26436397,31488196,21960125,30333828,16385451,21310059,22201752,17407567,16292672,19100526,20466729,23056344,25184962,24950659,31574965,26761402,23328842,17544823,32067109,26079652,33617569,33922858,26950992,32326132,33469544,34484180,34028080,34671583,35401703,35874703,35903101 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 ENSG00000185303 Transcript ENST00000372325.7 protein_coding 6/6 - - - 517 420 140 S tcC/tcT rs1965707,COSV64882330 - -1 - HGNC HGNC:10799 NM_001098668.4 - 1 P1 - Ensembl - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 ENSG00000185303 Transcript ENST00000372327.9 protein_coding 5/5 - - - 466 420 140 S tcC/tcT rs1965707,COSV64882330 - -1 - HGNC HGNC:10799 - - 1 P1 - Ensembl - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 ENSG00000185303 Transcript ENST00000417041.1 protein_coding 6/6 - - - 672 420 140 S tcC/tcT rs1965707,COSV64882330 - -1 cds_end_NF HGNC HGNC:10799 - - 5 - - Ensembl - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A downstream_gene_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000492049.1 protein_coding - - - - - - - - - rs1965707,COSV64882330 1349 -1 cds_end_NF HGNC HGNC:10799 - - 5 - - Ensembl - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A downstream_gene_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000640627.1 protein_coding - - - - - - - - - rs1965707,COSV64882330 1878 -1 - HGNC HGNC:10799 - - 1 - - Ensembl - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 729238 Transcript NM_001098668.4 protein_coding 6/6 - - - 517 420 140 S tcC/tcT rs1965707,COSV64882330 - -1 - EntrezGene HGNC:10799 ENST00000372325.7 - - - - RefSeq - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 729238 Transcript NM_001320813.2 protein_coding 6/6 - - - 520 420 140 S tcC/tcT rs1965707,COSV64882330 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 729238 Transcript NM_001320814.1 protein_coding 5/5 - - - 640 450 150 S tcC/tcT rs1965707,COSV64882330 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G OK - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 729238 Transcript XM_005270128.4 protein_coding 6/6 - - - 557 471 157 S tcC/tcT rs1965707,COSV64882330 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 729238 Transcript XM_005270132.4 protein_coding 5/5 - - - 487 420 140 S tcC/tcT rs1965707,COSV64882330 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 729238 Transcript XM_011540125.2 protein_coding 6/6 - - - 610 420 140 S tcC/tcT rs1965707,COSV64882330 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 729238 Transcript XM_017016608.2 protein_coding 6/6 - - - 560 474 158 S tcC/tcT rs1965707,COSV64882330 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 729238 Transcript XM_047425703.1 protein_coding 6/6 - - - 653 474 158 S tcC/tcT rs1965707,COSV64882330 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 729238 Transcript XM_047425704.1 protein_coding 6/6 - - - 650 471 157 S tcC/tcT rs1965707,COSV64882330 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 729238 Transcript XM_047425705.1 protein_coding 7/7 - - - 617 465 155 S tcC/tcT rs1965707,COSV64882330 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79557536-79557536 A synonymous_variant LOW SFTPA2 729238 Transcript XM_047425706.1 protein_coding 6/6 - - - 613 420 140 S tcC/tcT rs1965707,COSV64882330 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.3488 benign,benign/likely_benign 0,1 1,1 24033266,30333828,22201752,17407567,28366820,23328842,32067109,32326132,33469544,34484180,34671583,35401703,35720392,35903101,36297211 - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000372325.7 protein_coding - 4/5 - - - - - - - rs17884396,COSV64882318 - -1 - HGNC HGNC:10799 NM_001098668.4 - 1 P1 - Ensembl - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000372327.9 protein_coding - 3/4 - - - - - - - rs17884396,COSV64882318 - -1 - HGNC HGNC:10799 - - 1 P1 - Ensembl - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000417041.1 protein_coding - 4/5 - - - - - - - rs17884396,COSV64882318 - -1 cds_end_NF HGNC HGNC:10799 - - 5 - - Ensembl - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T downstream_gene_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000492049.1 protein_coding - - - - - - - - - rs17884396,COSV64882318 20 -1 cds_end_NF HGNC HGNC:10799 - - 5 - - Ensembl - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T downstream_gene_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000640627.1 protein_coding - - - - - - - - - rs17884396,COSV64882318 549 -1 - HGNC HGNC:10799 - - 1 - - Ensembl - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 729238 Transcript NM_001098668.4 protein_coding - 4/5 - - - - - - - rs17884396,COSV64882318 - -1 - EntrezGene HGNC:10799 ENST00000372325.7 - - - - RefSeq - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 729238 Transcript NM_001320813.2 protein_coding - 4/5 - - - - - - - rs17884396,COSV64882318 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 729238 Transcript NM_001320814.1 protein_coding - 3/4 - - - - - - - rs17884396,COSV64882318 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - C C OK - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 729238 Transcript XM_005270128.4 protein_coding - 4/5 - - - - - - - rs17884396,COSV64882318 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 729238 Transcript XM_005270132.4 protein_coding - 3/4 - - - - - - - rs17884396,COSV64882318 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 729238 Transcript XM_011540125.2 protein_coding - 4/5 - - - - - - - rs17884396,COSV64882318 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 729238 Transcript XM_017016608.2 protein_coding - 4/5 - - - - - - - rs17884396,COSV64882318 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 729238 Transcript XM_047425703.1 protein_coding - 4/5 - - - - - - - rs17884396,COSV64882318 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 729238 Transcript XM_047425704.1 protein_coding - 4/5 - - - - - - - rs17884396,COSV64882318 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 729238 Transcript XM_047425705.1 protein_coding - 5/6 - - - - - - - rs17884396,COSV64882318 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79558865-79558865 T intron_variant MODIFIER SFTPA2 729238 Transcript XM_047425706.1 protein_coding - 4/5 - - - - - - - rs17884396,COSV64882318 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - C C - - - 0.3462 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000372325.7 protein_coding - 3/5 - - - - - - - rs17880349,COSV64882488 - -1 - HGNC HGNC:10799 NM_001098668.4 - 1 P1 - Ensembl - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000372327.9 protein_coding - 2/4 - - - - - - - rs17880349,COSV64882488 - -1 - HGNC HGNC:10799 - - 1 P1 - Ensembl - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000417041.1 protein_coding - 3/5 - - - - - - - rs17880349,COSV64882488 - -1 cds_end_NF HGNC HGNC:10799 - - 5 - - Ensembl - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000492049.1 protein_coding - 1/1 - - - - - - - rs17880349,COSV64882488 - -1 cds_end_NF HGNC HGNC:10799 - - 5 - - Ensembl - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A downstream_gene_variant MODIFIER SFTPA2 ENSG00000185303 Transcript ENST00000640627.1 protein_coding - - - - - - - - - rs17880349,COSV64882488 350 -1 - HGNC HGNC:10799 - - 1 - - Ensembl - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 729238 Transcript NM_001098668.4 protein_coding - 3/5 - - - - - - - rs17880349,COSV64882488 - -1 - EntrezGene HGNC:10799 ENST00000372325.7 - - - - RefSeq - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 729238 Transcript NM_001320813.2 protein_coding - 3/5 - - - - - - - rs17880349,COSV64882488 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 729238 Transcript NM_001320814.1 protein_coding - 2/4 - - - - - - - rs17880349,COSV64882488 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G OK - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 729238 Transcript XM_005270128.4 protein_coding - 3/5 - - - - - - - rs17880349,COSV64882488 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 729238 Transcript XM_005270132.4 protein_coding - 2/4 - - - - - - - rs17880349,COSV64882488 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 729238 Transcript XM_011540125.2 protein_coding - 3/5 - - - - - - - rs17880349,COSV64882488 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 729238 Transcript XM_017016608.2 protein_coding - 3/5 - - - - - - - rs17880349,COSV64882488 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 729238 Transcript XM_047425703.1 protein_coding - 3/5 - - - - - - - rs17880349,COSV64882488 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 729238 Transcript XM_047425704.1 protein_coding - 3/5 - - - - - - - rs17880349,COSV64882488 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 729238 Transcript XM_047425705.1 protein_coding - 4/6 - - - - - - - rs17880349,COSV64882488 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79559064-79559064 A intron_variant MODIFIER SFTPA2 729238 Transcript XM_047425706.1 protein_coding - 3/5 - - - - - - - rs17880349,COSV64882488 - -1 - EntrezGene HGNC:10799 - - - - - RefSeq - G G - - - 0.5180 benign 0,1 1,1 - - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 ENSG00000122852 Transcript ENST00000398636.8 protein_coding 6/6 - - - 558 420 140 S tcC/tcT rs3997777,COSV64866871 - 1 - HGNC HGNC:10798 NM_005411.5 - 1 P1 - Ensembl - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 ENSG00000122852 Transcript ENST00000419470.6 protein_coding 6/6 - - - 541 465 155 S tcC/tcT rs3997777,COSV64866871 - 1 - HGNC HGNC:10798 - - 1 - - Ensembl - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 ENSG00000122852 Transcript ENST00000428376.6 protein_coding 5/5 - - - 487 420 140 S tcC/tcT rs3997777,COSV64866871 - 1 - HGNC HGNC:10798 - - 1 P1 - Ensembl - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 ENSG00000122852 Transcript ENST00000429958.5 protein_coding 5/5 - - - 473 420 140 S tcC/tcT rs3997777,COSV64866871 - 1 cds_end_NF HGNC HGNC:10798 - - 1 - - Ensembl - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T downstream_gene_variant MODIFIER SFTPA1 ENSG00000122852 Transcript ENST00000486922.1 retained_intron - - - - - - - - - rs3997777,COSV64866871 1888 1 - HGNC HGNC:10798 - - 5 - - Ensembl - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript NM_001093770.3 protein_coding 6/6 - - - 547 465 155 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript NM_001164644.2 protein_coding 6/6 - - - 517 420 140 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript NM_001164645.2 protein_coding 6/6 - - - 403 318 106 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript NM_001164646.2 protein_coding 6/6 - - - 411 273 91 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript NM_001164647.1 protein_coding 5/5 - - - 487 420 140 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C OK - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript NM_005411.5 protein_coding 6/6 - - - 558 420 140 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 ENST00000398636.8 - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript XM_005270062.6 protein_coding 5/5 - - - 643 420 140 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript XM_006717953.3 protein_coding 6/6 - - - 550 465 155 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript XM_047425667.1 protein_coding 7/7 - - - 618 465 155 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript XM_047425668.1 protein_coding 7/7 - - - 652 465 155 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript XM_047425669.1 protein_coding 7/7 - - - 621 465 155 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript XM_047425670.1 protein_coding 7/7 - - - 640 465 155 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript XM_047425671.1 protein_coding 7/7 - - - 606 465 155 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript XM_047425672.1 protein_coding 7/7 - - - 643 465 155 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript XM_047425673.1 protein_coding 7/7 - - - 609 465 155 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript XM_047425674.1 protein_coding 6/6 - - - 592 420 140 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613786-79613786 T synonymous_variant LOW SFTPA1 653509 Transcript XM_047425675.1 protein_coding 6/6 - - - 546 420 140 S tcC/tcT rs3997777,COSV64866871 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - C C - - - - likely_benign 0,1 1,1 34484180 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 ENSG00000122852 Transcript ENST00000398636.8 protein_coding 6/6 - - - 690 552 184 Y taT/taC rs4253526,COSV64867164 - 1 - HGNC HGNC:10798 NM_005411.5 - 1 P1 - Ensembl - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 ENSG00000122852 Transcript ENST00000419470.6 protein_coding 6/6 - - - 673 597 199 Y taT/taC rs4253526,COSV64867164 - 1 - HGNC HGNC:10798 - - 1 - - Ensembl - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 ENSG00000122852 Transcript ENST00000428376.6 protein_coding 5/5 - - - 619 552 184 Y taT/taC rs4253526,COSV64867164 - 1 - HGNC HGNC:10798 - - 1 P1 - Ensembl - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C downstream_gene_variant MODIFIER SFTPA1 ENSG00000122852 Transcript ENST00000429958.5 protein_coding - - - - - - - - - rs4253526,COSV64867164 78 1 cds_end_NF HGNC HGNC:10798 - - 1 - - Ensembl - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C downstream_gene_variant MODIFIER SFTPA1 ENSG00000122852 Transcript ENST00000486922.1 retained_intron - - - - - - - - - rs4253526,COSV64867164 2020 1 - HGNC HGNC:10798 - - 5 - - Ensembl - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript NM_001093770.3 protein_coding 6/6 - - - 679 597 199 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript NM_001164644.2 protein_coding 6/6 - - - 649 552 184 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript NM_001164645.2 protein_coding 6/6 - - - 535 450 150 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript NM_001164646.2 protein_coding 6/6 - - - 543 405 135 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript NM_001164647.1 protein_coding 5/5 - - - 619 552 184 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T OK - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript NM_005411.5 protein_coding 6/6 - - - 690 552 184 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 ENST00000398636.8 - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript XM_005270062.6 protein_coding 5/5 - - - 775 552 184 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript XM_006717953.3 protein_coding 6/6 - - - 682 597 199 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript XM_047425667.1 protein_coding 7/7 - - - 750 597 199 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript XM_047425668.1 protein_coding 7/7 - - - 784 597 199 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript XM_047425669.1 protein_coding 7/7 - - - 753 597 199 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript XM_047425670.1 protein_coding 7/7 - - - 772 597 199 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript XM_047425671.1 protein_coding 7/7 - - - 738 597 199 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript XM_047425672.1 protein_coding 7/7 - - - 775 597 199 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript XM_047425673.1 protein_coding 7/7 - - - 741 597 199 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript XM_047425674.1 protein_coding 6/6 - - - 724 552 184 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79613918-79613918 C synonymous_variant LOW SFTPA1 653509 Transcript XM_047425675.1 protein_coding 6/6 - - - 678 552 184 Y taT/taC rs4253526,COSV64867164 - 1 - EntrezGene HGNC:10798 - - - - - RefSeq - T T - - - 0.0893 benign 0,1 1,1 24033266 - - - - - . 10:79842079-79842079 A synonymous_variant LOW NUTM2E ENSG00000228570 Transcript ENST00000429984.5 protein_coding 4/10 - - - 3685 339 113 T acG/acA rs2767102,COSV70431471 - 1 - HGNC HGNC:23448 NM_001355263.2 - 5 P1 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:79842079-79842079 A synonymous_variant LOW NUTM2E ENSG00000228570 Transcript ENST00000602967.5 protein_coding 1/6 - - - 722 339 113 T acG/acA rs2767102,COSV70431471 - 1 - HGNC HGNC:23448 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:79842079-79842079 A synonymous_variant LOW NUTM2E 283008 Transcript NM_001355263.2 protein_coding 4/10 - - - 3685 339 113 T acG/acA rs2767102,COSV70431471 - 1 - EntrezGene HGNC:23448 ENST00000429984.5 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:79892130-79892130 C downstream_gene_variant MODIFIER PGGT1BP2 ENSG00000214584 Transcript ENST00000398621.3 processed_pseudogene - - - - - - - - - rs2819112 18 -1 - HGNC HGNC:45112 - - - - - Ensembl - T T - - - 0.7476 - - - - - - - - - . 10:79892150-79892150 G non_coding_transcript_exon_variant MODIFIER PGGT1BP2 ENSG00000214584 Transcript ENST00000398621.3 processed_pseudogene 1/1 - - - 1026 - - - - rs1972481 - -1 - HGNC HGNC:45112 - - - - - Ensembl - A A - - - 0.2700 - - - - - - - - - . 10:79892237-79892237 C non_coding_transcript_exon_variant MODIFIER PGGT1BP2 ENSG00000214584 Transcript ENST00000398621.3 processed_pseudogene 1/1 - - - 939 - - - - - - -1 - HGNC HGNC:45112 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:79892510-79892510 A non_coding_transcript_exon_variant MODIFIER PGGT1BP2 ENSG00000214584 Transcript ENST00000398621.3 processed_pseudogene 1/1 - - - 666 - - - - rs927452 - -1 - HGNC HGNC:45112 - - - - - Ensembl - G G - - - 0.7476 - - - - - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 ENSG00000133678 Transcript ENST00000372273.7 protein_coding 2/4 - - - 245 246 82 L ctG/ctT rs1932574,COSV64845686 - 1 cds_start_NF HGNC HGNC:25804 - - 1 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 ENSG00000133678 Transcript ENST00000372274.5 protein_coding 2/6 - - - 191 183 61 L ctG/ctT rs1932574,COSV64845686 - 1 - HGNC HGNC:25804 - - 2 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 ENSG00000133678 Transcript ENST00000372275.5 protein_coding 2/5 - - - 201 183 61 L ctG/ctT rs1932574,COSV64845686 - 1 - HGNC HGNC:25804 - - 2 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 ENSG00000133678 Transcript ENST00000372277.7 protein_coding 2/5 - - - 237 183 61 L ctG/ctT rs1932574,COSV64845686 - 1 - HGNC HGNC:25804 - - 5 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 ENSG00000133678 Transcript ENST00000372281.8 protein_coding 2/4 - - - 218 183 61 L ctG/ctT rs1932574,COSV64845686 - 1 - HGNC HGNC:25804 NM_025125.4 - 1 P1 - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T upstream_gene_variant MODIFIER TMEM254-AS1 ENSG00000230091 Transcript ENST00000412298.5 lncRNA - - - - - - - - - rs1932574,COSV64845686 3041 -1 - HGNC HGNC:27340 - - 2 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T upstream_gene_variant MODIFIER TMEM254-AS1 ENSG00000230091 Transcript ENST00000432070.2 lncRNA - - - - - - - - - rs1932574,COSV64845686 3024 -1 - HGNC HGNC:27340 - - 2 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T upstream_gene_variant MODIFIER TMEM254-AS1 ENSG00000230091 Transcript ENST00000448729.6 lncRNA - - - - - - - - - rs1932574,COSV64845686 3092 -1 - HGNC HGNC:27340 - - 1 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 ENSG00000133678 Transcript ENST00000450179.1 protein_coding 2/4 - - - 115 117 39 L ctG/ctT rs1932574,COSV64845686 - 1 cds_start_NF HGNC HGNC:25804 - - 3 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T non_coding_transcript_exon_variant MODIFIER TMEM254 ENSG00000133678 Transcript ENST00000463029.5 protein_coding_CDS_not_defined 3/5 - - - 226 - - - - rs1932574,COSV64845686 - 1 - HGNC HGNC:25804 - - 1 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T non_coding_transcript_exon_variant MODIFIER TMEM254 ENSG00000133678 Transcript ENST00000463209.1 protein_coding_CDS_not_defined 2/4 - - - 128 - - - - rs1932574,COSV64845686 - 1 - HGNC HGNC:25804 - - 3 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T non_coding_transcript_exon_variant MODIFIER TMEM254 ENSG00000133678 Transcript ENST00000467529.5 protein_coding_CDS_not_defined 2/4 - - - 134 - - - - rs1932574,COSV64845686 - 1 - HGNC HGNC:25804 - - 1 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T non_coding_transcript_exon_variant MODIFIER TMEM254 ENSG00000133678 Transcript ENST00000472622.5 protein_coding_CDS_not_defined 2/4 - - - 237 - - - - rs1932574,COSV64845686 - 1 - HGNC HGNC:25804 - - 2 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T non_coding_transcript_exon_variant MODIFIER TMEM254 ENSG00000133678 Transcript ENST00000476173.5 protein_coding_CDS_not_defined 2/5 - - - 109 - - - - rs1932574,COSV64845686 - 1 - HGNC HGNC:25804 - - 4 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T non_coding_transcript_exon_variant MODIFIER TMEM254 ENSG00000133678 Transcript ENST00000483732.5 protein_coding_CDS_not_defined 3/5 - - - 556 - - - - rs1932574,COSV64845686 - 1 - HGNC HGNC:25804 - - 4 - - Ensembl - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T missense_variant MODERATE TMEM254 ENSG00000133678 Transcript ENST00000613758.4 protein_coding 3/5 - - - 332 278 93 C/F tGt/tTt rs1932574,COSV64845686 - 1 - HGNC HGNC:25804 - - 1 - - Ensembl - G G - tolerated_low_confidence(0.12) unknown(0) 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 80195 Transcript NM_001270367.1 protein_coding 2/4 - - - 258 255 85 L ctG/ctT rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G OK - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 80195 Transcript NM_001270368.1 protein_coding 2/4 - - - 258 255 85 L ctG/ctT rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G OK - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 80195 Transcript NM_001270369.1 protein_coding 2/5 - - - 258 255 85 L ctG/ctT rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G OK - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 80195 Transcript NM_001270370.2 protein_coding 2/6 - - - 218 183 61 L ctG/ctT rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T missense_variant MODERATE TMEM254 80195 Transcript NM_001270371.2 protein_coding 3/5 - - - 313 278 93 C/F tGt/tTt rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G - tolerated_low_confidence(0.12) unknown(0) 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 80195 Transcript NM_001270372.2 protein_coding 2/4 - - - 218 183 61 L ctG/ctT rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 80195 Transcript NM_001270373.2 protein_coding 2/5 - - - 218 183 61 L ctG/ctT rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T missense_variant MODERATE TMEM254 80195 Transcript NM_001270374.2 protein_coding 3/5 - - - 604 203 68 C/F tGt/tTt rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G - deleterious_low_confidence(0) unknown(0) 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 80195 Transcript NM_025125.4 protein_coding 2/4 - - - 218 183 61 L ctG/ctT rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 ENST00000372281.8 - - - - RefSeq - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T upstream_gene_variant MODIFIER TMEM254-AS1 219347 Transcript NR_027428.1 lncRNA - - - - - - - - - rs1932574,COSV64845686 2743 -1 - EntrezGene HGNC:27340 - - - - - RefSeq - G G OK - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T upstream_gene_variant MODIFIER TMEM254-AS1 219347 Transcript NR_027429.1 lncRNA - - - - - - - - - rs1932574,COSV64845686 2743 -1 - EntrezGene HGNC:27340 - - - - - RefSeq - G G OK - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T upstream_gene_variant MODIFIER TMEM254-AS1 219347 Transcript NR_027430.1 lncRNA - - - - - - - - - rs1932574,COSV64845686 2743 -1 - EntrezGene HGNC:27340 - - - - - RefSeq - G G OK - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T upstream_gene_variant MODIFIER TMEM254-AS1 219347 Transcript NR_027431.3 lncRNA - - - - - - - - - rs1932574,COSV64845686 2743 -1 - EntrezGene HGNC:27340 - - - - - RefSeq - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T upstream_gene_variant MODIFIER TMEM254-AS1 219347 Transcript NR_027432.1 lncRNA - - - - - - - - - rs1932574,COSV64845686 2743 -1 - EntrezGene HGNC:27340 - - - - - RefSeq - G G OK - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T non_coding_transcript_exon_variant MODIFIER TMEM254 80195 Transcript NR_072984.1 misc_RNA 3/5 - - - 254 - - - - rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G OK - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T non_coding_transcript_exon_variant MODIFIER TMEM254 80195 Transcript NR_072985.1 misc_RNA 3/5 - - - 261 - - - - rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G OK - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T non_coding_transcript_exon_variant MODIFIER TMEM254 80195 Transcript NR_072986.1 misc_RNA 2/4 - - - 159 - - - - rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G OK - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T non_coding_transcript_exon_variant MODIFIER TMEM254 80195 Transcript NR_072987.1 misc_RNA 2/5 - - - 159 - - - - rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G OK - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 80195 Transcript XM_006717978.3 protein_coding 3/5 - - - 611 210 70 L ctG/ctT rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 80195 Transcript XM_011540192.4 protein_coding 2/4 - - - 258 255 85 L ctG/ctT rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T missense_variant MODERATE TMEM254 80195 Transcript XM_011540193.4 protein_coding 3/5 - - - 604 203 68 C/F tGt/tTt rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G - deleterious_low_confidence(0) unknown(0) 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 80195 Transcript XM_017016680.3 protein_coding 3/5 - - - 611 210 70 L ctG/ctT rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T synonymous_variant LOW TMEM254 80195 Transcript XM_047425782.1 protein_coding 2/4 - - - 218 183 61 L ctG/ctT rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T missense_variant MODERATE TMEM254 80195 Transcript XM_047425783.1 protein_coding 3/5 - - - 604 203 68 C/F tGt/tTt rs1932574,COSV64845686 - 1 - EntrezGene HGNC:25804 - - - - - RefSeq - G G - deleterious_low_confidence(0) unknown(0) 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80081936-80081936 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000409706 enhancer - - - - - - - - - rs1932574,COSV64845686 - - - - - - - - - - - - - - - - - 0.4211 - 0,1 0,1 25961286,16385451 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 ENSG00000122359 Transcript ENST00000265447.8 protein_coding - 13/14 - - - - - - - rs1079242,COSV55416414 - -1 - HGNC HGNC:535 - - 5 A2 - Ensembl - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 ENSG00000122359 Transcript ENST00000372231.7 protein_coding - 13/14 - - - - - - - rs1079242,COSV55416414 - -1 - HGNC HGNC:535 - - 1 P2 - Ensembl - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 ENSG00000122359 Transcript ENST00000422982.8 protein_coding - 14/15 - - - - - - - rs1079242,COSV55416414 - -1 - HGNC HGNC:535 NM_145868.2 - 1 P2 - Ensembl - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 ENSG00000122359 Transcript ENST00000438331.5 protein_coding - 15/16 - - - - - - - rs1079242,COSV55416414 - -1 - HGNC HGNC:535 - - 1 P2 - Ensembl - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 ENSG00000122359 Transcript ENST00000447489.1 protein_coding - 3/5 - - - - - - - rs1079242,COSV55416414 - -1 cds_start_NF HGNC HGNC:535 - - 3 - - Ensembl - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant,non_coding_transcript_variant MODIFIER ANXA11 ENSG00000122359 Transcript ENST00000463340.1 protein_coding_CDS_not_defined - 1/1 - - - - - - - rs1079242,COSV55416414 - -1 - HGNC HGNC:535 - - 3 - - Ensembl - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 311 Transcript NM_001157.3 protein_coding - 13/14 - - - - - - - rs1079242,COSV55416414 - -1 - EntrezGene HGNC:535 - - - - - RefSeq - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 311 Transcript NM_001278407.2 protein_coding - 15/16 - - - - - - - rs1079242,COSV55416414 - -1 - EntrezGene HGNC:535 - - - - - RefSeq - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 311 Transcript NM_001278408.2 protein_coding - 15/16 - - - - - - - rs1079242,COSV55416414 - -1 - EntrezGene HGNC:535 - - - - - RefSeq - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 311 Transcript NM_001278409.2 protein_coding - 15/16 - - - - - - - rs1079242,COSV55416414 - -1 - EntrezGene HGNC:535 - - - - - RefSeq - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 311 Transcript NM_145868.2 protein_coding - 14/15 - - - - - - - rs1079242,COSV55416414 - -1 - EntrezGene HGNC:535 ENST00000422982.8 - - - - RefSeq - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 311 Transcript NM_145869.2 protein_coding - 15/16 - - - - - - - rs1079242,COSV55416414 - -1 - EntrezGene HGNC:535 - - - - - RefSeq - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 311 Transcript XM_005269741.5 protein_coding - 11/12 - - - - - - - rs1079242,COSV55416414 - -1 - EntrezGene HGNC:535 - - - - - RefSeq - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 311 Transcript XM_005269742.2 protein_coding - 13/13 - - - - - - - rs1079242,COSV55416414 - -1 - EntrezGene HGNC:535 - - - - - RefSeq - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 311 Transcript XM_006717813.3 protein_coding - 14/14 - - - - - - - rs1079242,COSV55416414 - -1 - EntrezGene HGNC:535 - - - - - RefSeq - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 311 Transcript XM_047425140.1 protein_coding - 15/15 - - - - - - - rs1079242,COSV55416414 - -1 - EntrezGene HGNC:535 - - - - - RefSeq - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G intron_variant MODIFIER ANXA11 311 Transcript XM_047425141.1 protein_coding - 14/14 - - - - - - - rs1079242,COSV55416414 - -1 - EntrezGene HGNC:535 - - - - - RefSeq - A A - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80157952-80157952 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000030740 enhancer - - - - - - - - - rs1079242,COSV55416414 - - - - - - - - - - - - - - - - - 0.4081 benign 0,1 1,1 23151485 - - - - - . 10:80252992-80252992 A non_coding_transcript_exon_variant MODIFIER - ENSG00000279359 Transcript ENST00000623657.1 TEC 1/1 - - - 3283 - - - - rs12217395 - 1 - - - - - - - - Ensembl - G G - - - 0.2756 - - - - - - - - - . 10:80252992-80252992 A non_coding_transcript_exon_variant MODIFIER LOC100130698 100130698 Transcript NR_136612.1 lncRNA 6/6 - - - 1052 - - - - rs12217395 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.2756 - - - - - - - - - . 10:80252992-80252992 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000947255 enhancer - - - - - - - - - rs12217395 - - - - - - - - - - - - - - - - - 0.2756 - - - - - - - - - . 10:80253363-80253363 A non_coding_transcript_exon_variant MODIFIER - ENSG00000279359 Transcript ENST00000623657.1 TEC 1/1 - - - 3654 - - - - rs12411806 - 1 - - - - - - - - Ensembl - G G - - - 0.2730 - - - - - - - - - . 10:80253363-80253363 A non_coding_transcript_exon_variant MODIFIER LOC100130698 100130698 Transcript NR_136612.1 lncRNA 6/6 - - - 1423 - - - - rs12411806 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.2730 - - - - - - - - - . 10:80253363-80253363 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000947255 enhancer - - - - - - - - - rs12411806 - - - - - - - - - - - - - - - - - 0.2730 - - - - - - - - - . 10:80253378-80253378 T non_coding_transcript_exon_variant MODIFIER - ENSG00000279359 Transcript ENST00000623657.1 TEC 1/1 - - - 3669 - - - - rs1298908 - 1 - - - - - - - - Ensembl - C C - - - 0.5893 - - 1 26305897,28201750 - - - - - . 10:80253378-80253378 T non_coding_transcript_exon_variant MODIFIER LOC100130698 100130698 Transcript NR_136612.1 lncRNA 6/6 - - - 1438 - - - - rs1298908 - 1 - EntrezGene - - - - - - RefSeq - C C - - - 0.5893 - - 1 26305897,28201750 - - - - - . 10:80253378-80253378 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000947255 enhancer - - - - - - - - - rs1298908 - - - - - - - - - - - - - - - - - 0.5893 - - 1 26305897,28201750 - - - - - . 10:80253390-80253390 C non_coding_transcript_exon_variant MODIFIER - ENSG00000279359 Transcript ENST00000623657.1 TEC 1/1 - - - 3681 - - - - rs2573326 - 1 - - - - - - - - Ensembl - T T - - - 0.5984 - - - - - - - - - . 10:80253390-80253390 C non_coding_transcript_exon_variant MODIFIER LOC100130698 100130698 Transcript NR_136612.1 lncRNA 6/6 - - - 1450 - - - - rs2573326 - 1 - EntrezGene - - - - - - RefSeq - T T - - - 0.5984 - - - - - - - - - . 10:80253390-80253390 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000947255 enhancer - - - - - - - - - rs2573326 - - - - - - - - - - - - - - - - - 0.5984 - - - - - - - - - . 10:80273838-80273838 A synonymous_variant LOW MAT1A ENSG00000151224 Transcript ENST00000372213.8 protein_coding 9/9 - - - 1366 1131 377 Y taC/taT rs2993763,COSV64745496 - -1 - HGNC HGNC:6903 NM_000429.3 - 1 P1 - Ensembl - G G - - - 0.5869 benign 0,1 1,1 25741868,22496743,22807109,22724053,17889263,33195260 - - - - - . 10:80273838-80273838 A downstream_gene_variant MODIFIER MAT1A ENSG00000151224 Transcript ENST00000455001.1 protein_coding - - - - - - - - - rs2993763,COSV64745496 2682 -1 cds_start_NF,cds_end_NF HGNC HGNC:6903 - - 5 - - Ensembl - G G - - - 0.5869 benign 0,1 1,1 25741868,22496743,22807109,22724053,17889263,33195260 - - - - - . 10:80273838-80273838 A non_coding_transcript_exon_variant MODIFIER MAT1A ENSG00000151224 Transcript ENST00000480845.1 protein_coding_CDS_not_defined 3/5 - - - 363 - - - - rs2993763,COSV64745496 - -1 - HGNC HGNC:6903 - - 3 - - Ensembl - G G - - - 0.5869 benign 0,1 1,1 25741868,22496743,22807109,22724053,17889263,33195260 - - - - - . 10:80273838-80273838 A non_coding_transcript_exon_variant MODIFIER MAT1A ENSG00000151224 Transcript ENST00000485270.5 protein_coding_CDS_not_defined 3/3 - - - 643 - - - - rs2993763,COSV64745496 - -1 - HGNC HGNC:6903 - - 2 - - Ensembl - G G - - - 0.5869 benign 0,1 1,1 25741868,22496743,22807109,22724053,17889263,33195260 - - - - - . 10:80273838-80273838 A synonymous_variant LOW MAT1A 4143 Transcript NM_000429.3 protein_coding 9/9 - - - 1366 1131 377 Y taC/taT rs2993763,COSV64745496 - -1 - EntrezGene HGNC:6903 ENST00000372213.8 - - - - RefSeq - G G - - - 0.5869 benign 0,1 1,1 25741868,22496743,22807109,22724053,17889263,33195260 - - - - - . 10:84212287-84212287 G synonymous_variant LOW CDHR1 ENSG00000148600 Transcript ENST00000332904.7 protein_coding 15/17 - - - 1773 1662 554 E gaA/gaG rs10749482,COSV60565208 - 1 - HGNC HGNC:14550 - - 1 A2 - Ensembl - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G synonymous_variant LOW CDHR1 ENSG00000148600 Transcript ENST00000372117.6 protein_coding 8/10 - - - 877 879 293 E gaA/gaG rs10749482,COSV60565208 - 1 cds_start_NF HGNC HGNC:14550 - - 2 - - Ensembl - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G upstream_gene_variant MODIFIER CDHR1 ENSG00000148600 Transcript ENST00000459673.1 retained_intron - - - - - - - - - rs10749482,COSV60565208 590 1 - HGNC HGNC:14550 - - 2 - - Ensembl - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G synonymous_variant,NMD_transcript_variant LOW CDHR1 ENSG00000148600 Transcript ENST00000622973.1 nonsense_mediated_decay 4/6 - - - 395 396 132 E gaA/gaG rs10749482,COSV60565208 - 1 cds_start_NF HGNC HGNC:14550 - - 5 - - Ensembl - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G upstream_gene_variant MODIFIER CDHR1 ENSG00000148600 Transcript ENST00000623399.1 protein_coding - - - - - - - - - rs10749482,COSV60565208 851 1 cds_start_NF HGNC HGNC:14550 - - 3 - - Ensembl - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G synonymous_variant LOW CDHR1 ENSG00000148600 Transcript ENST00000623527.4 protein_coding 15/17 - - - 1886 1662 554 E gaA/gaG rs10749482,COSV60565208 - 1 - HGNC HGNC:14550 NM_033100.4 - 1 P2 - Ensembl - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G downstream_gene_variant MODIFIER CDHR1 ENSG00000148600 Transcript ENST00000624091.1 nonsense_mediated_decay - - - - - - - - - rs10749482,COSV60565208 3425 1 cds_start_NF HGNC HGNC:14550 - - 5 - - Ensembl - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G synonymous_variant LOW CDHR1 92211 Transcript NM_001171971.3 protein_coding 15/17 - - - 1886 1662 554 E gaA/gaG rs10749482,COSV60565208 - 1 - EntrezGene HGNC:14550 - - - - - RefSeq - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G synonymous_variant LOW CDHR1 92211 Transcript NM_033100.4 protein_coding 15/17 - - - 1886 1662 554 E gaA/gaG rs10749482,COSV60565208 - 1 - EntrezGene HGNC:14550 ENST00000623527.4 - - - - RefSeq - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G synonymous_variant LOW CDHR1 92211 Transcript XM_011540337.2 protein_coding 14/16 - - - 2564 1836 612 E gaA/gaG rs10749482,COSV60565208 - 1 - EntrezGene HGNC:14550 - - - - - RefSeq - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G synonymous_variant LOW CDHR1 92211 Transcript XM_011540338.2 protein_coding 14/16 - - - 2564 1836 612 E gaA/gaG rs10749482,COSV60565208 - 1 - EntrezGene HGNC:14550 - - - - - RefSeq - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G synonymous_variant LOW CDHR1 92211 Transcript XM_011540339.2 protein_coding 12/14 - - - 1299 1215 405 E gaA/gaG rs10749482,COSV60565208 - 1 - EntrezGene HGNC:14550 - - - - - RefSeq - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G synonymous_variant LOW CDHR1 92211 Transcript XM_011540340.4 protein_coding 14/16 - - - 2564 1836 612 E gaA/gaG rs10749482,COSV60565208 - 1 - EntrezGene HGNC:14550 - - - - - RefSeq - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84212287-84212287 G synonymous_variant LOW CDHR1 92211 Transcript XM_047425997.1 protein_coding 14/16 - - - 1669 939 313 E gaA/gaG rs10749482,COSV60565208 - 1 - EntrezGene HGNC:14550 - - - - - RefSeq - A A - - - 0.4291 benign 0,1 1,1 25741868 - - - - - . 10:84224967-84224967 A synonymous_variant LOW LRIT2 ENSG00000204033 Transcript ENST00000372113.7 protein_coding 2/3 - - - 282 258 86 L ctC/ctT rs11200928,COSV64518744 - -1 - HGNC HGNC:23443 NM_001017924.5 - 1 P2 - Ensembl - G G - - - 0.2081 - 0,1 0,1 17503327 - - - - - . 10:84224967-84224967 A synonymous_variant LOW LRIT2 ENSG00000204033 Transcript ENST00000538192.5 protein_coding 2/4 - - - 282 258 86 L ctC/ctT rs11200928,COSV64518744 - -1 - HGNC HGNC:23443 - - 1 A2 - Ensembl - G G - - - 0.2081 - 0,1 0,1 17503327 - - - - - . 10:84224967-84224967 A synonymous_variant LOW LRIT2 340745 Transcript NM_001017924.5 protein_coding 2/3 - - - 282 258 86 L ctC/ctT rs11200928,COSV64518744 - -1 - EntrezGene HGNC:23443 ENST00000372113.7 - - - - RefSeq - G G - - - 0.2081 - 0,1 0,1 17503327 - - - - - . 10:84224967-84224967 A synonymous_variant LOW LRIT2 340745 Transcript NM_001284223.1 protein_coding 2/4 - - - 327 258 86 L ctC/ctT rs11200928,COSV64518744 - -1 - EntrezGene HGNC:23443 - - - - - RefSeq - G G - - - 0.2081 - 0,1 0,1 17503327 - - - - - . 10:84224967-84224967 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000947453 open_chromatin_region - - - - - - - - - rs11200928,COSV64518744 - - - - - - - - - - - - - - - - - 0.2081 - 0,1 0,1 17503327 - - - - - . 10:84224967-84224967 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209137119 - - - - - - - - - - rs11200928,COSV64518744 - -1 - - - - - - - - - - - - - - - 0.2081 - 0,1 0,1 17503327 ENSPFM0029 7 Y -0.045 CEBPE,GCM1::CEBPB,CEBPG,CEBPB,TEAD4::CEBPD,CEBPD . 10:84224967-84224967 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209478366 - - - - - - - - - - rs11200928,COSV64518744 - -1 - - - - - - - - - - - - - - - 0.2081 - 0,1 0,1 17503327 ENSPFM0573 15 N -0.007 TEAD4::RFX5 . 10:84224967-84224967 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209399121 - - - - - - - - - - rs11200928,COSV64518744 - -1 - - - - - - - - - - - - - - - 0.2081 - 0,1 0,1 17503327 ENSPFM0542 2 N -0.090 TEAD4::ESRRB . 10:84224967-84224967 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209389079 - - - - - - - - - - rs11200928,COSV64518744 - -1 - - - - - - - - - - - - - - - 0.2081 - 0,1 0,1 17503327 ENSPFM0523 7 N -0.014 TEAD4::CEBPD . 10:84224967-84224967 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209175488 - - - - - - - - - - rs11200928,COSV64518744 - 1 - - - - - - - - - - - - - - - 0.2081 - 0,1 0,1 17503327 ENSPFM0520 17 N -0.001 TEAD4::ALX4 . 10:84224967-84224967 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209351116 - - - - - - - - - - rs11200928,COSV64518744 - 1 - - - - - - - - - - - - - - - 0.2081 - 0,1 0,1 17503327 ENSPFM0529 17 N -0.001 TEAD4::DLX2,TEAD4::DLX3 . 10:84224967-84224967 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209440488 - - - - - - - - - - rs11200928,COSV64518744 - -1 - - - - - - - - - - - - - - - 0.2081 - 0,1 0,1 17503327 ENSPFM0549 15 N -0.004 TEAD4::FOXI1 . 10:84224967-84224967 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209492945 - - - - - - - - - - rs11200928,COSV64518744 - -1 - - - - - - - - - - - - - - - 0.2081 - 0,1 0,1 17503327 ENSPFM0570 15 N 0.031 TEAD4::PITX1 . 10:84224967-84224967 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209365262 - - - - - - - - - - rs11200928,COSV64518744 - 1 - - - - - - - - - - - - - - - 0.2081 - 0,1 0,1 17503327 ENSPFM0522 4 N -0.005 TEAD4::CEBPD . 10:84224967-84224967 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209455665 - - - - - - - - - - rs11200928,COSV64518744 - -1 - - - - - - - - - - - - - - - 0.2081 - 0,1 0,1 17503327 ENSPFM0558 15 N -0.038 TEAD4::HOXA13 . 10:84224967-84224967 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00209433139 - - - - - - - - - - rs11200928,COSV64518744 - -1 - - - - - - - - - - - - - - - 0.2081 - 0,1 0,1 17503327 ENSPFM0555 15 N -0.044 TEAD4::HES7 . 10:84560535-84560535 T non_coding_transcript_exon_variant MODIFIER RPS3AP5 ENSG00000178429 Transcript ENST00000389400.4 processed_pseudogene 1/1 - - - 93 - - - - rs1409705384 - 1 - HGNC HGNC:23744 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:84560544-84560544 A non_coding_transcript_exon_variant MODIFIER RPS3AP5 ENSG00000178429 Transcript ENST00000389400.4 processed_pseudogene 1/1 - - - 102 - - - - - - 1 - HGNC HGNC:23744 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:84560805-84560805 T non_coding_transcript_exon_variant MODIFIER RPS3AP5 ENSG00000178429 Transcript ENST00000389400.4 processed_pseudogene 1/1 - - - 363 - - - - rs1326551314 - 1 - HGNC HGNC:23744 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:84560975-84560975 C non_coding_transcript_exon_variant MODIFIER RPS3AP5 ENSG00000178429 Transcript ENST00000389400.4 processed_pseudogene 1/1 - - - 533 - - - - - - 1 - HGNC HGNC:23744 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:84560983-84560983 C non_coding_transcript_exon_variant MODIFIER RPS3AP5 ENSG00000178429 Transcript ENST00000389400.4 processed_pseudogene 1/1 - - - 541 - - - - - - 1 - HGNC HGNC:23744 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:84561057-84561057 A non_coding_transcript_exon_variant MODIFIER RPS3AP5 ENSG00000178429 Transcript ENST00000389400.4 processed_pseudogene 1/1 - - - 615 - - - - rs1037867398 - 1 - HGNC HGNC:23744 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:84561074-84561074 G non_coding_transcript_exon_variant MODIFIER RPS3AP5 ENSG00000178429 Transcript ENST00000389400.4 processed_pseudogene 1/1 - - - 632 - - - - - - 1 - HGNC HGNC:23744 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:84561174-84561174 A non_coding_transcript_exon_variant MODIFIER RPS3AP5 ENSG00000178429 Transcript ENST00000389400.4 processed_pseudogene 1/1 - - - 732 - - - - - - 1 - HGNC HGNC:23744 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:86443311-86443311 C synonymous_variant LOW WAPL ENSG00000062650 Transcript ENST00000298767.10 protein_coding 17/19 - - - 3825 3375 1125 T acA/acG rs7094132,COSV53938106 - -1 - HGNC HGNC:23293 NM_015045.5 - 1 P1 - Ensembl - T T - - - 0.8139 - 0,1 0,1 - - - - - - . 10:86443311-86443311 C synonymous_variant LOW WAPL ENSG00000062650 Transcript ENST00000372075.2 protein_coding 8/10 - - - 1068 1068 356 T acA/acG rs7094132,COSV53938106 - -1 cds_start_NF HGNC HGNC:23293 - - 2 - - Ensembl - T T - - - 0.8139 - 0,1 0,1 - - - - - - . 10:86443311-86443311 C non_coding_transcript_exon_variant MODIFIER WAPL ENSG00000062650 Transcript ENST00000484070.1 retained_intron 1/3 - - - 722 - - - - rs7094132,COSV53938106 - -1 - HGNC HGNC:23293 - - 2 - - Ensembl - T T - - - 0.8139 - 0,1 0,1 - - - - - - . 10:86443311-86443311 C synonymous_variant LOW WAPL 23063 Transcript NM_001318328.2 protein_coding 17/19 - - - 3807 3357 1119 T acA/acG rs7094132,COSV53938106 - -1 - EntrezGene HGNC:23293 - - - - - RefSeq - T T - - - 0.8139 - 0,1 0,1 - - - - - - . 10:86443311-86443311 C synonymous_variant LOW WAPL 23063 Transcript NM_015045.5 protein_coding 17/19 - - - 3825 3375 1125 T acA/acG rs7094132,COSV53938106 - -1 - EntrezGene HGNC:23293 ENST00000298767.10 - - - - RefSeq - T T - - - 0.8139 - 0,1 0,1 - - - - - - . 10:86443311-86443311 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001180300 open_chromatin_region - - - - - - - - - rs7094132,COSV53938106 - - - - - - - - - - - - - - - - - 0.8139 - 0,1 0,1 - - - - - - . 10:86473871-86473871 G splice_region_variant,intron_variant LOW WAPL ENSG00000062650 Transcript ENST00000298767.10 protein_coding - 5/18 - - - - - - - rs3758520,COSV53933373 - -1 - HGNC HGNC:23293 NM_015045.5 - 1 P1 - Ensembl - C C - - - 0.2638 - 0,1 0,1 - - - - - - . 10:86473871-86473871 G upstream_gene_variant MODIFIER WAPL ENSG00000062650 Transcript ENST00000489996.1 protein_coding_CDS_not_defined - - - - - - - - - rs3758520,COSV53933373 1584 -1 - HGNC HGNC:23293 - - 2 - - Ensembl - C C - - - 0.2638 - 0,1 0,1 - - - - - - . 10:86473871-86473871 G splice_region_variant,intron_variant LOW WAPL 23063 Transcript NM_001318328.2 protein_coding - 5/18 - - - - - - - rs3758520,COSV53933373 - -1 - EntrezGene HGNC:23293 - - - - - RefSeq - C C - - - 0.2638 - 0,1 0,1 - - - - - - . 10:86473871-86473871 G splice_region_variant,intron_variant LOW WAPL 23063 Transcript NM_015045.5 protein_coding - 5/18 - - - - - - - rs3758520,COSV53933373 - -1 - EntrezGene HGNC:23293 ENST00000298767.10 - - - - RefSeq - C C - - - 0.2638 - 0,1 0,1 - - - - - - . 10:86497186-86497186 T intron_variant MODIFIER WAPL ENSG00000062650 Transcript ENST00000298767.10 protein_coding - 4/18 - - - - - - - rs4934215 - -1 - HGNC HGNC:23293 NM_015045.5 - 1 P1 - Ensembl - C C - - - 0.9611 - - - - - - - - - . 10:86497186-86497186 T intron_variant MODIFIER WAPL 23063 Transcript NM_001318328.2 protein_coding - 4/18 - - - - - - - rs4934215 - -1 - EntrezGene HGNC:23293 - - - - - RefSeq - C C - - - 0.9611 - - - - - - - - - . 10:86497186-86497186 T intron_variant MODIFIER WAPL 23063 Transcript NM_015045.5 protein_coding - 4/18 - - - - - - - rs4934215 - -1 - EntrezGene HGNC:23293 ENST00000298767.10 - - - - RefSeq - C C - - - 0.9611 - - - - - - - - - . 10:86876022-86876022 A missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000372037.8 protein_coding 3/13 - - - 572 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - HGNC HGNC:1076 NM_004329.3 - 1 P1 - Ensembl - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86876022-86876022 A missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000480152.3 protein_coding 4/14 - - - 646 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - HGNC HGNC:1076 - - 3 P1 - Ensembl - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86876022-86876022 A missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000635816.2 nonsense_mediated_decay 3/14 - - - 595 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86876022-86876022 A missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000636056.2 nonsense_mediated_decay 3/14 - - - 578 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86876022-86876022 A missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000638429.1 nonsense_mediated_decay 3/14 - - - 590 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86876022-86876022 A missense_variant MODERATE BMPR1A 657 Transcript NM_004329.3 protein_coding 3/13 - - - 572 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - EntrezGene HGNC:1076 ENST00000372037.8 - - - - RefSeq - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86876022-86876022 A missense_variant MODERATE BMPR1A 657 Transcript XM_011540103.3 protein_coding 3/13 - - - 472 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86876022-86876022 A missense_variant MODERATE BMPR1A 657 Transcript XM_011540104.3 protein_coding 4/14 - - - 677 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86876022-86876022 A missense_variant MODERATE BMPR1A 657 Transcript XM_047425676.1 protein_coding 3/13 - - - 613 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86876022-86876022 A missense_variant MODERATE BMPR1A 657 Transcript XM_047425677.1 protein_coding 4/14 - - - 718 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86876022-86876022 A missense_variant MODERATE BMPR1A 657 Transcript XM_047425678.1 protein_coding 5/15 - - - 969 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86876022-86876022 A missense_variant MODERATE BMPR1A 657 Transcript XM_047425679.1 protein_coding 4/14 - - - 577 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86876022-86876022 A missense_variant MODERATE BMPR1A 657 Transcript XM_047425680.1 protein_coding 3/13 - - - 24944 4 2 P/T Cct/Act rs11528010,COSV64406247,COSV64409048 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - tolerated_low_confidence(0.73) benign(0) 0.4998 benign 0,1,1 1,1,1 25741868,24728327,26293461,26900293,22703879,29458332,16436638,19502417,22886282,28473326,33032550 - - - - - . 10:86919304-86919304 C missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000372037.8 protein_coding 10/13 - - - 1569 1001 334 L/S tTg/tCg rs915929375 - 1 - HGNC HGNC:1076 NM_004329.3 - 1 P1 - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919304-86919304 C missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000480152.3 protein_coding 11/14 - - - 1643 1001 334 L/S tTg/tCg rs915929375 - 1 - HGNC HGNC:1076 - - 3 P1 - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919304-86919304 C missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000635816.2 nonsense_mediated_decay 10/14 - - - 1592 1001 334 L/S tTg/tCg rs915929375 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919304-86919304 C missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000636056.2 nonsense_mediated_decay 10/14 - - - 1575 1001 334 L/S tTg/tCg rs915929375 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919304-86919304 C missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000638429.1 nonsense_mediated_decay 10/14 - - - 1587 1001 334 L/S tTg/tCg rs915929375 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919304-86919304 C missense_variant MODERATE BMPR1A 657 Transcript NM_004329.3 protein_coding 10/13 - - - 1569 1001 334 L/S tTg/tCg rs915929375 - 1 - EntrezGene HGNC:1076 ENST00000372037.8 - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919304-86919304 C missense_variant MODERATE BMPR1A 657 Transcript XM_011540103.3 protein_coding 10/13 - - - 1469 1001 334 L/S tTg/tCg rs915929375 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919304-86919304 C missense_variant MODERATE BMPR1A 657 Transcript XM_011540104.3 protein_coding 11/14 - - - 1674 1001 334 L/S tTg/tCg rs915929375 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919304-86919304 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425676.1 protein_coding 10/13 - - - 1610 1001 334 L/S tTg/tCg rs915929375 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919304-86919304 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425677.1 protein_coding 11/14 - - - 1715 1001 334 L/S tTg/tCg rs915929375 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919304-86919304 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425678.1 protein_coding 12/15 - - - 1966 1001 334 L/S tTg/tCg rs915929375 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919304-86919304 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425679.1 protein_coding 11/14 - - - 1574 1001 334 L/S tTg/tCg rs915929375 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919304-86919304 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425680.1 protein_coding 10/13 - - - 25941 1001 334 L/S tTg/tCg rs915929375 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000372037.8 protein_coding 10/13 - - - 1614 1046 349 I/T aTt/aCt - - 1 - HGNC HGNC:1076 NM_004329.3 - 1 P1 - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000480152.3 protein_coding 11/14 - - - 1688 1046 349 I/T aTt/aCt - - 1 - HGNC HGNC:1076 - - 3 P1 - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000635816.2 nonsense_mediated_decay 10/14 - - - 1637 1046 349 I/T aTt/aCt - - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000636056.2 nonsense_mediated_decay 10/14 - - - 1620 1046 349 I/T aTt/aCt - - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000638429.1 nonsense_mediated_decay 10/14 - - - 1632 1046 349 I/T aTt/aCt - - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant MODERATE BMPR1A 657 Transcript NM_004329.3 protein_coding 10/13 - - - 1614 1046 349 I/T aTt/aCt - - 1 - EntrezGene HGNC:1076 ENST00000372037.8 - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant MODERATE BMPR1A 657 Transcript XM_011540103.3 protein_coding 10/13 - - - 1514 1046 349 I/T aTt/aCt - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant MODERATE BMPR1A 657 Transcript XM_011540104.3 protein_coding 11/14 - - - 1719 1046 349 I/T aTt/aCt - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425676.1 protein_coding 10/13 - - - 1655 1046 349 I/T aTt/aCt - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425677.1 protein_coding 11/14 - - - 1760 1046 349 I/T aTt/aCt - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425678.1 protein_coding 12/15 - - - 2011 1046 349 I/T aTt/aCt - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425679.1 protein_coding 11/14 - - - 1619 1046 349 I/T aTt/aCt - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919349-86919349 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425680.1 protein_coding 10/13 - - - 25986 1046 349 I/T aTt/aCt - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000372037.8 protein_coding 10/13 - - - 1615 1047 349 I/M atT/atG - - 1 - HGNC HGNC:1076 NM_004329.3 - 1 P1 - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000480152.3 protein_coding 11/14 - - - 1689 1047 349 I/M atT/atG - - 1 - HGNC HGNC:1076 - - 3 P1 - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000635816.2 nonsense_mediated_decay 10/14 - - - 1638 1047 349 I/M atT/atG - - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000636056.2 nonsense_mediated_decay 10/14 - - - 1621 1047 349 I/M atT/atG - - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000638429.1 nonsense_mediated_decay 10/14 - - - 1633 1047 349 I/M atT/atG - - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant MODERATE BMPR1A 657 Transcript NM_004329.3 protein_coding 10/13 - - - 1615 1047 349 I/M atT/atG - - 1 - EntrezGene HGNC:1076 ENST00000372037.8 - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant MODERATE BMPR1A 657 Transcript XM_011540103.3 protein_coding 10/13 - - - 1515 1047 349 I/M atT/atG - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant MODERATE BMPR1A 657 Transcript XM_011540104.3 protein_coding 11/14 - - - 1720 1047 349 I/M atT/atG - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant MODERATE BMPR1A 657 Transcript XM_047425676.1 protein_coding 10/13 - - - 1656 1047 349 I/M atT/atG - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant MODERATE BMPR1A 657 Transcript XM_047425677.1 protein_coding 11/14 - - - 1761 1047 349 I/M atT/atG - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant MODERATE BMPR1A 657 Transcript XM_047425678.1 protein_coding 12/15 - - - 2012 1047 349 I/M atT/atG - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant MODERATE BMPR1A 657 Transcript XM_047425679.1 protein_coding 11/14 - - - 1620 1047 349 I/M atT/atG - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86919350-86919350 G missense_variant MODERATE BMPR1A 657 Transcript XM_047425680.1 protein_coding 10/13 - - - 25987 1047 349 I/M atT/atG - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0) probably_damaging(1) - - - - - - - - - - . 10:86921575-86921575 C missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000372037.8 protein_coding 11/13 - - - 1790 1222 408 M/L Atg/Ctg - - 1 - HGNC HGNC:1076 NM_004329.3 - 1 P1 - Ensembl - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921575-86921575 C missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000480152.3 protein_coding 12/14 - - - 1864 1222 408 M/L Atg/Ctg - - 1 - HGNC HGNC:1076 - - 3 P1 - Ensembl - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921575-86921575 C missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000635816.2 nonsense_mediated_decay 11/14 - - - 1813 1222 408 M/L Atg/Ctg - - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921575-86921575 C missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000636056.2 nonsense_mediated_decay 11/14 - - - 1796 1222 408 M/L Atg/Ctg - - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921575-86921575 C missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000638429.1 nonsense_mediated_decay 11/14 - - - 1808 1222 408 M/L Atg/Ctg - - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921575-86921575 C missense_variant MODERATE BMPR1A 657 Transcript NM_004329.3 protein_coding 11/13 - - - 1790 1222 408 M/L Atg/Ctg - - 1 - EntrezGene HGNC:1076 ENST00000372037.8 - - - - RefSeq - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921575-86921575 C missense_variant MODERATE BMPR1A 657 Transcript XM_011540103.3 protein_coding 11/13 - - - 1690 1222 408 M/L Atg/Ctg - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921575-86921575 C missense_variant MODERATE BMPR1A 657 Transcript XM_011540104.3 protein_coding 12/14 - - - 1895 1222 408 M/L Atg/Ctg - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921575-86921575 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425676.1 protein_coding 11/13 - - - 1831 1222 408 M/L Atg/Ctg - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921575-86921575 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425677.1 protein_coding 12/14 - - - 1936 1222 408 M/L Atg/Ctg - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921575-86921575 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425678.1 protein_coding 13/15 - - - 2187 1222 408 M/L Atg/Ctg - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921575-86921575 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425679.1 protein_coding 12/14 - - - 1795 1222 408 M/L Atg/Ctg - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921575-86921575 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425680.1 protein_coding 11/13 - - - 26162 1222 408 M/L Atg/Ctg - - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - deleterious(0) benign(0.272) - - - - - - - - - - . 10:86921583-86921583 A synonymous_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000372037.8 protein_coding 11/13 - - - 1798 1230 410 P ccC/ccA COSV64406816 - 1 - HGNC HGNC:1076 NM_004329.3 - 1 P1 - Ensembl - C C - - - - - 1 1 - - - - - - . 10:86921583-86921583 A synonymous_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000480152.3 protein_coding 12/14 - - - 1872 1230 410 P ccC/ccA COSV64406816 - 1 - HGNC HGNC:1076 - - 3 P1 - Ensembl - C C - - - - - 1 1 - - - - - - . 10:86921583-86921583 A synonymous_variant,NMD_transcript_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000635816.2 nonsense_mediated_decay 11/14 - - - 1821 1230 410 P ccC/ccA COSV64406816 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:86921583-86921583 A synonymous_variant,NMD_transcript_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000636056.2 nonsense_mediated_decay 11/14 - - - 1804 1230 410 P ccC/ccA COSV64406816 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:86921583-86921583 A synonymous_variant,NMD_transcript_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000638429.1 nonsense_mediated_decay 11/14 - - - 1816 1230 410 P ccC/ccA COSV64406816 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - C C - - - - - 1 1 - - - - - - . 10:86921583-86921583 A synonymous_variant LOW BMPR1A 657 Transcript NM_004329.3 protein_coding 11/13 - - - 1798 1230 410 P ccC/ccA COSV64406816 - 1 - EntrezGene HGNC:1076 ENST00000372037.8 - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:86921583-86921583 A synonymous_variant LOW BMPR1A 657 Transcript XM_011540103.3 protein_coding 11/13 - - - 1698 1230 410 P ccC/ccA COSV64406816 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:86921583-86921583 A synonymous_variant LOW BMPR1A 657 Transcript XM_011540104.3 protein_coding 12/14 - - - 1903 1230 410 P ccC/ccA COSV64406816 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:86921583-86921583 A synonymous_variant LOW BMPR1A 657 Transcript XM_047425676.1 protein_coding 11/13 - - - 1839 1230 410 P ccC/ccA COSV64406816 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:86921583-86921583 A synonymous_variant LOW BMPR1A 657 Transcript XM_047425677.1 protein_coding 12/14 - - - 1944 1230 410 P ccC/ccA COSV64406816 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:86921583-86921583 A synonymous_variant LOW BMPR1A 657 Transcript XM_047425678.1 protein_coding 13/15 - - - 2195 1230 410 P ccC/ccA COSV64406816 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:86921583-86921583 A synonymous_variant LOW BMPR1A 657 Transcript XM_047425679.1 protein_coding 12/14 - - - 1803 1230 410 P ccC/ccA COSV64406816 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:86921583-86921583 A synonymous_variant LOW BMPR1A 657 Transcript XM_047425680.1 protein_coding 11/13 - - - 26170 1230 410 P ccC/ccA COSV64406816 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - - 1 1 - - - - - - . 10:86921640-86921640 T synonymous_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000372037.8 protein_coding 11/13 - - - 1855 1287 429 D gaC/gaT rs777021606 - 1 - HGNC HGNC:1076 NM_004329.3 - 1 P1 - Ensembl - C C - - - - likely_benign - 1 - - - - - - . 10:86921640-86921640 T synonymous_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000480152.3 protein_coding 12/14 - - - 1929 1287 429 D gaC/gaT rs777021606 - 1 - HGNC HGNC:1076 - - 3 P1 - Ensembl - C C - - - - likely_benign - 1 - - - - - - . 10:86921640-86921640 T synonymous_variant,NMD_transcript_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000635816.2 nonsense_mediated_decay 11/14 - - - 1878 1287 429 D gaC/gaT rs777021606 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - C C - - - - likely_benign - 1 - - - - - - . 10:86921640-86921640 T synonymous_variant,NMD_transcript_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000636056.2 nonsense_mediated_decay 11/14 - - - 1861 1287 429 D gaC/gaT rs777021606 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - C C - - - - likely_benign - 1 - - - - - - . 10:86921640-86921640 T synonymous_variant,NMD_transcript_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000638429.1 nonsense_mediated_decay 11/14 - - - 1873 1287 429 D gaC/gaT rs777021606 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - C C - - - - likely_benign - 1 - - - - - - . 10:86921640-86921640 T synonymous_variant LOW BMPR1A 657 Transcript NM_004329.3 protein_coding 11/13 - - - 1855 1287 429 D gaC/gaT rs777021606 - 1 - EntrezGene HGNC:1076 ENST00000372037.8 - - - - RefSeq - C C - - - - likely_benign - 1 - - - - - - . 10:86921640-86921640 T synonymous_variant LOW BMPR1A 657 Transcript XM_011540103.3 protein_coding 11/13 - - - 1755 1287 429 D gaC/gaT rs777021606 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - likely_benign - 1 - - - - - - . 10:86921640-86921640 T synonymous_variant LOW BMPR1A 657 Transcript XM_011540104.3 protein_coding 12/14 - - - 1960 1287 429 D gaC/gaT rs777021606 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - likely_benign - 1 - - - - - - . 10:86921640-86921640 T synonymous_variant LOW BMPR1A 657 Transcript XM_047425676.1 protein_coding 11/13 - - - 1896 1287 429 D gaC/gaT rs777021606 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - likely_benign - 1 - - - - - - . 10:86921640-86921640 T synonymous_variant LOW BMPR1A 657 Transcript XM_047425677.1 protein_coding 12/14 - - - 2001 1287 429 D gaC/gaT rs777021606 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - likely_benign - 1 - - - - - - . 10:86921640-86921640 T synonymous_variant LOW BMPR1A 657 Transcript XM_047425678.1 protein_coding 13/15 - - - 2252 1287 429 D gaC/gaT rs777021606 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - likely_benign - 1 - - - - - - . 10:86921640-86921640 T synonymous_variant LOW BMPR1A 657 Transcript XM_047425679.1 protein_coding 12/14 - - - 1860 1287 429 D gaC/gaT rs777021606 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - likely_benign - 1 - - - - - - . 10:86921640-86921640 T synonymous_variant LOW BMPR1A 657 Transcript XM_047425680.1 protein_coding 11/13 - - - 26227 1287 429 D gaC/gaT rs777021606 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - - - - likely_benign - 1 - - - - - - . 10:86923648-86923648 C missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000372037.8 protein_coding 13/13 - - - 2096 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - HGNC HGNC:1076 NM_004329.3 - 1 P1 - Ensembl - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923648-86923648 C missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000480152.3 protein_coding 14/14 - - - 2170 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - HGNC HGNC:1076 - - 3 P1 - Ensembl - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923648-86923648 C missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000635816.2 nonsense_mediated_decay 13/14 - - - 2119 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923648-86923648 C missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000636056.2 nonsense_mediated_decay 13/14 - - - 2102 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923648-86923648 C missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000638429.1 nonsense_mediated_decay 13/14 - - - 2114 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923648-86923648 C missense_variant MODERATE BMPR1A 657 Transcript NM_004329.3 protein_coding 13/13 - - - 2096 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - EntrezGene HGNC:1076 ENST00000372037.8 - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923648-86923648 C missense_variant MODERATE BMPR1A 657 Transcript XM_011540103.3 protein_coding 13/13 - - - 1996 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923648-86923648 C missense_variant MODERATE BMPR1A 657 Transcript XM_011540104.3 protein_coding 14/14 - - - 2201 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923648-86923648 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425676.1 protein_coding 13/13 - - - 2137 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923648-86923648 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425677.1 protein_coding 14/14 - - - 2242 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923648-86923648 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425678.1 protein_coding 15/15 - - - 2493 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923648-86923648 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425679.1 protein_coding 14/14 - - - 2101 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923648-86923648 C missense_variant MODERATE BMPR1A 657 Transcript XM_047425680.1 protein_coding 13/13 - - - 26468 1528 510 S/P Tcc/Ccc COSV105290913 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.932) - - 1 1 - - - - - - . 10:86923662-86923662 G synonymous_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000372037.8 protein_coding 13/13 - - - 2110 1542 514 A gcA/gcG rs1589293655 - 1 - HGNC HGNC:1076 NM_004329.3 - 1 P1 - Ensembl - A A - - - - likely_benign - 1 - - - - - - . 10:86923662-86923662 G synonymous_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000480152.3 protein_coding 14/14 - - - 2184 1542 514 A gcA/gcG rs1589293655 - 1 - HGNC HGNC:1076 - - 3 P1 - Ensembl - A A - - - - likely_benign - 1 - - - - - - . 10:86923662-86923662 G synonymous_variant,NMD_transcript_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000635816.2 nonsense_mediated_decay 13/14 - - - 2133 1542 514 A gcA/gcG rs1589293655 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - A A - - - - likely_benign - 1 - - - - - - . 10:86923662-86923662 G synonymous_variant,NMD_transcript_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000636056.2 nonsense_mediated_decay 13/14 - - - 2116 1542 514 A gcA/gcG rs1589293655 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - A A - - - - likely_benign - 1 - - - - - - . 10:86923662-86923662 G synonymous_variant,NMD_transcript_variant LOW BMPR1A ENSG00000107779 Transcript ENST00000638429.1 nonsense_mediated_decay 13/14 - - - 2128 1542 514 A gcA/gcG rs1589293655 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - A A - - - - likely_benign - 1 - - - - - - . 10:86923662-86923662 G synonymous_variant LOW BMPR1A 657 Transcript NM_004329.3 protein_coding 13/13 - - - 2110 1542 514 A gcA/gcG rs1589293655 - 1 - EntrezGene HGNC:1076 ENST00000372037.8 - - - - RefSeq - A A - - - - likely_benign - 1 - - - - - - . 10:86923662-86923662 G synonymous_variant LOW BMPR1A 657 Transcript XM_011540103.3 protein_coding 13/13 - - - 2010 1542 514 A gcA/gcG rs1589293655 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - - - - likely_benign - 1 - - - - - - . 10:86923662-86923662 G synonymous_variant LOW BMPR1A 657 Transcript XM_011540104.3 protein_coding 14/14 - - - 2215 1542 514 A gcA/gcG rs1589293655 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - - - - likely_benign - 1 - - - - - - . 10:86923662-86923662 G synonymous_variant LOW BMPR1A 657 Transcript XM_047425676.1 protein_coding 13/13 - - - 2151 1542 514 A gcA/gcG rs1589293655 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - - - - likely_benign - 1 - - - - - - . 10:86923662-86923662 G synonymous_variant LOW BMPR1A 657 Transcript XM_047425677.1 protein_coding 14/14 - - - 2256 1542 514 A gcA/gcG rs1589293655 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - - - - likely_benign - 1 - - - - - - . 10:86923662-86923662 G synonymous_variant LOW BMPR1A 657 Transcript XM_047425678.1 protein_coding 15/15 - - - 2507 1542 514 A gcA/gcG rs1589293655 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - - - - likely_benign - 1 - - - - - - . 10:86923662-86923662 G synonymous_variant LOW BMPR1A 657 Transcript XM_047425679.1 protein_coding 14/14 - - - 2115 1542 514 A gcA/gcG rs1589293655 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - - - - likely_benign - 1 - - - - - - . 10:86923662-86923662 G synonymous_variant LOW BMPR1A 657 Transcript XM_047425680.1 protein_coding 13/13 - - - 26482 1542 514 A gcA/gcG rs1589293655 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - A A - - - - likely_benign - 1 - - - - - - . 10:86923679-86923679 T missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000372037.8 protein_coding 13/13 - - - 2127 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - HGNC HGNC:1076 NM_004329.3 - 1 P1 - Ensembl - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923679-86923679 T missense_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000480152.3 protein_coding 14/14 - - - 2201 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - HGNC HGNC:1076 - - 3 P1 - Ensembl - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923679-86923679 T missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000635816.2 nonsense_mediated_decay 13/14 - - - 2150 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923679-86923679 T missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000636056.2 nonsense_mediated_decay 13/14 - - - 2133 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923679-86923679 T missense_variant,NMD_transcript_variant MODERATE BMPR1A ENSG00000107779 Transcript ENST00000638429.1 nonsense_mediated_decay 13/14 - - - 2145 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923679-86923679 T missense_variant MODERATE BMPR1A 657 Transcript NM_004329.3 protein_coding 13/13 - - - 2127 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - EntrezGene HGNC:1076 ENST00000372037.8 - - - - RefSeq - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923679-86923679 T missense_variant MODERATE BMPR1A 657 Transcript XM_011540103.3 protein_coding 13/13 - - - 2027 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923679-86923679 T missense_variant MODERATE BMPR1A 657 Transcript XM_011540104.3 protein_coding 14/14 - - - 2232 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923679-86923679 T missense_variant MODERATE BMPR1A 657 Transcript XM_047425676.1 protein_coding 13/13 - - - 2168 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923679-86923679 T missense_variant MODERATE BMPR1A 657 Transcript XM_047425677.1 protein_coding 14/14 - - - 2273 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923679-86923679 T missense_variant MODERATE BMPR1A 657 Transcript XM_047425678.1 protein_coding 15/15 - - - 2524 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923679-86923679 T missense_variant MODERATE BMPR1A 657 Transcript XM_047425679.1 protein_coding 14/14 - - - 2132 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923679-86923679 T missense_variant MODERATE BMPR1A 657 Transcript XM_047425680.1 protein_coding 13/13 - - - 26499 1559 520 T/M aCg/aTg rs1179044384,COSV64405685 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - C C - deleterious(0.01) probably_damaging(0.996) - uncertain_significance 0,1 1,1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant MODIFIER BMPR1A ENSG00000107779 Transcript ENST00000372037.8 protein_coding 13/13 - - - 2168 - - - - rs1843704052 - 1 - HGNC HGNC:1076 NM_004329.3 - 1 P1 - Ensembl - T T - - - - uncertain_significance - 1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant MODIFIER BMPR1A ENSG00000107779 Transcript ENST00000480152.3 protein_coding 14/14 - - - 2242 - - - - rs1843704052 - 1 - HGNC HGNC:1076 - - 3 P1 - Ensembl - T T - - - - uncertain_significance - 1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER BMPR1A ENSG00000107779 Transcript ENST00000635816.2 nonsense_mediated_decay 13/14 - - - 2191 - - - - rs1843704052 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - - - - uncertain_significance - 1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER BMPR1A ENSG00000107779 Transcript ENST00000636056.2 nonsense_mediated_decay 13/14 - - - 2174 - - - - rs1843704052 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - - - - uncertain_significance - 1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER BMPR1A ENSG00000107779 Transcript ENST00000638429.1 nonsense_mediated_decay 13/14 - - - 2186 - - - - rs1843704052 - 1 - HGNC HGNC:1076 - - 5 - - Ensembl - T T - - - - uncertain_significance - 1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant MODIFIER BMPR1A 657 Transcript NM_004329.3 protein_coding 13/13 - - - 2168 - - - - rs1843704052 - 1 - EntrezGene HGNC:1076 ENST00000372037.8 - - - - RefSeq - T T - - - - uncertain_significance - 1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant MODIFIER BMPR1A 657 Transcript XM_011540103.3 protein_coding 13/13 - - - 2068 - - - - rs1843704052 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - - - - uncertain_significance - 1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant MODIFIER BMPR1A 657 Transcript XM_011540104.3 protein_coding 14/14 - - - 2273 - - - - rs1843704052 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - - - - uncertain_significance - 1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant MODIFIER BMPR1A 657 Transcript XM_047425676.1 protein_coding 13/13 - - - 2209 - - - - rs1843704052 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - - - - uncertain_significance - 1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant MODIFIER BMPR1A 657 Transcript XM_047425677.1 protein_coding 14/14 - - - 2314 - - - - rs1843704052 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - - - - uncertain_significance - 1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant MODIFIER BMPR1A 657 Transcript XM_047425678.1 protein_coding 15/15 - - - 2565 - - - - rs1843704052 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - - - - uncertain_significance - 1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant MODIFIER BMPR1A 657 Transcript XM_047425679.1 protein_coding 14/14 - - - 2173 - - - - rs1843704052 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - - - - uncertain_significance - 1 - - - - - - . 10:86923720-86923720 C 3_prime_UTR_variant MODIFIER BMPR1A 657 Transcript XM_047425680.1 protein_coding 13/13 - - - 26540 - - - - rs1843704052 - 1 - EntrezGene HGNC:1076 - - - - - RefSeq - T T - - - - uncertain_significance - 1 - - - - - - . 10:87004198-87004198 C downstream_gene_variant MODIFIER BMS1P3 ENSG00000240089 Transcript ENST00000372011.4 transcribed_unprocessed_pseudogene - - - - - - - - - rs1240407 3763 1 - HGNC HGNC:23651 - - - - - Ensembl - T T - - - 0.7929 - - - 23555554 - - - - - . 10:87004198-87004198 C intron_variant,non_coding_transcript_variant MODIFIER AGAP11 ENSG00000261011 Transcript ENST00000437689.3 transcribed_unprocessed_pseudogene - 1/3 - - - - - - - rs1240407 - 1 - HGNC HGNC:29421 - - - - - Ensembl - T T - - - 0.7929 - - - 23555554 - - - - - . 10:87004198-87004198 C intron_variant,non_coding_transcript_variant MODIFIER AGAP11 119385 Transcript NR_171046.1 lncRNA - 8/10 - - - - - - - rs1240407 - 1 - EntrezGene HGNC:29421 - - - - - RefSeq - T T - - - 0.7929 - - - 23555554 - - - - - . 10:87008496-87008496 G non_coding_transcript_exon_variant MODIFIER AGAP11 ENSG00000261011 Transcript ENST00000437689.3 transcribed_unprocessed_pseudogene 4/4 - - - 331 - - - - rs2641563 - 1 - HGNC HGNC:29421 - - - - - Ensembl - A A - - - 0.7911 - - - 23555554 - - - - - . 10:87008496-87008496 G downstream_gene_variant MODIFIER - ENSG00000229969 Transcript ENST00000451760.1 lncRNA - - - - - - - - - rs2641563 1289 -1 - - - - - 5 - - Ensembl - A A - - - 0.7911 - - - 23555554 - - - - - . 10:87008496-87008496 G non_coding_transcript_exon_variant MODIFIER AGAP11 119385 Transcript NR_171046.1 lncRNA 11/11 - - - 1752 - - - - rs2641563 - 1 - EntrezGene HGNC:29421 - - - - - RefSeq - A A - - - 0.7911 - - - 23555554 - - - - - . 10:87008496-87008496 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000947657 open_chromatin_region - - - - - - - - - rs2641563 - - - - - - - - - - - - - - - - - 0.7911 - - - 23555554 - - - - - . 10:87008496-87008496 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00247692800 - - - - - - - - - - rs2641563 - 1 - - - - - - - - - - - - - - - 0.7911 - - - 23555554 ENSPFM0086 14 N -0.009 EGR1,EGR2,EGR4,EGR3 . 10:87008666-87008666 G non_coding_transcript_exon_variant MODIFIER AGAP11 ENSG00000261011 Transcript ENST00000437689.3 transcribed_unprocessed_pseudogene 4/4 - - - 501 - - - - rs2641562 - 1 - HGNC HGNC:29421 - - - - - Ensembl - A A - - - 0.4008 - - - 23555554 - - - - - . 10:87008666-87008666 G downstream_gene_variant MODIFIER - ENSG00000229969 Transcript ENST00000451760.1 lncRNA - - - - - - - - - rs2641562 1119 -1 - - - - - 5 - - Ensembl - A A - - - 0.4008 - - - 23555554 - - - - - . 10:87008666-87008666 G non_coding_transcript_exon_variant MODIFIER AGAP11 119385 Transcript NR_171046.1 lncRNA 11/11 - - - 1922 - - - - rs2641562 - 1 - EntrezGene HGNC:29421 - - - - - RefSeq - A A - - - 0.4008 - - - 23555554 - - - - - . 10:87008666-87008666 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000947657 open_chromatin_region - - - - - - - - - rs2641562 - - - - - - - - - - - - - - - - - 0.4008 - - - 23555554 - - - - - . 10:87008900-87008900 T non_coding_transcript_exon_variant MODIFIER AGAP11 ENSG00000261011 Transcript ENST00000437689.3 transcribed_unprocessed_pseudogene 4/4 - - - 735 - - - - rs1745901 - 1 - HGNC HGNC:29421 - - - - - Ensembl - C C - - - 0.7778 - - - 23555554 - - - - - . 10:87008900-87008900 T downstream_gene_variant MODIFIER - ENSG00000229969 Transcript ENST00000451760.1 lncRNA - - - - - - - - - rs1745901 885 -1 - - - - - 5 - - Ensembl - C C - - - 0.7778 - - - 23555554 - - - - - . 10:87008900-87008900 T non_coding_transcript_exon_variant MODIFIER AGAP11 119385 Transcript NR_171046.1 lncRNA 11/11 - - - 2156 - - - - rs1745901 - 1 - EntrezGene HGNC:29421 - - - - - RefSeq - C C - - - 0.7778 - - - 23555554 - - - - - . 10:87024724-87024724 G 3_prime_UTR_variant MODIFIER FAM25A ENSG00000188100 Transcript ENST00000343959.5 protein_coding 3/3 - - - 351 - - - - rs9421557 - 1 - HGNC HGNC:23436 NM_001146157.3 - 1 P1 - Ensembl - A A - - - 0.5367 - - - - - - - - - . 10:87024724-87024724 G upstream_gene_variant MODIFIER - ENSG00000271573 Transcript ENST00000605222.1 processed_pseudogene - - - - - - - - - rs9421557 2460 1 - - - - - - - - Ensembl - A A - - - 0.5367 - - - - - - - - - . 10:87024724-87024724 G 3_prime_UTR_variant MODIFIER FAM25A 643161 Transcript NM_001146157.3 protein_coding 3/3 - - - 351 - - - - rs9421557 - 1 - EntrezGene HGNC:23436 ENST00000343959.5 - - - - RefSeq - A A - - - 0.5367 - - - - - - - - - . 10:87024724-87024724 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000410852 enhancer - - - - - - - - - rs9421557 - - - - - - - - - - - - - - - - - 0.5367 - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000277865.5 protein_coding 13/13 - - - 1858 - - - - - - -1 - HGNC HGNC:4335 NM_005271.5 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000474574.2 retained_intron 8/8 - - - 3359 - - - - - - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000487058.2 retained_intron 5/5 - - - 1531 - - - - - - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000681987.1 retained_intron 13/13 - - - 1622 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000681988.1 protein_coding 15/15 - - - 1744 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682396.1 nonsense_mediated_decay 15/15 - - - 1775 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682507.1 protein_coding 13/13 - - - 1471 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682622.1 nonsense_mediated_decay 15/15 - - - 2064 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682833.1 nonsense_mediated_decay 12/12 - - - 1619 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683022.1 nonsense_mediated_decay 16/16 - - - 1805 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683256.1 protein_coding 15/15 - - - 1575 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683269.1 protein_coding 16/16 - - - 1941 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683647.1 retained_intron 11/11 - - - 5118 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683649.1 protein_coding_CDS_not_defined 4/4 - - - 634 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683783.1 protein_coding 14/14 - - - 1537 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683813.1 retained_intron 9/9 - - - 1512 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684032.1 nonsense_mediated_decay 14/14 - - - 1639 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684201.1 protein_coding 11/11 - - - 1515 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684338.1 protein_coding 13/13 - - - 1862 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684372.1 protein_coding 17/17 - - - 1918 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684434.1 nonsense_mediated_decay 10/10 - - - 1255 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684546.1 protein_coding 16/16 - - - 1794 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684665.1 retained_intron 2/2 - - - 748 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684690.1 retained_intron 11/11 - - - 2011 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684699.1 retained_intron 12/12 - - - 4363 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_001318900.1 protein_coding 13/13 - - - 1494 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_001318901.1 protein_coding 16/16 - - - 1847 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_001318902.1 protein_coding 15/15 - - - 1774 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_001318904.2 protein_coding 14/14 - - - 2085 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_001318905.2 protein_coding 16/16 - - - 2211 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_001318906.2 protein_coding 14/14 - - - 1918 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_005271.5 protein_coding 13/13 - - - 1858 - - - - - - -1 - EntrezGene HGNC:4335 ENST00000277865.5 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript XM_047425099.1 protein_coding 14/14 - - - 1639 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87051644-87051644 G 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript XM_047425100.1 protein_coding 15/15 - - - 3629 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000277865.5 protein_coding 13/13 - - - 1778 - - - - - - -1 - HGNC HGNC:4335 NM_005271.5 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000474574.2 retained_intron 8/8 - - - 3279 - - - - - - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000487058.2 retained_intron 5/5 - - - 1451 - - - - - - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000681987.1 retained_intron 13/13 - - - 1542 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000681988.1 protein_coding 15/15 - - - 1664 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682396.1 nonsense_mediated_decay 15/15 - - - 1695 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682507.1 protein_coding 13/13 - - - 1391 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682622.1 nonsense_mediated_decay 15/15 - - - 1984 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682833.1 nonsense_mediated_decay 12/12 - - - 1539 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683022.1 nonsense_mediated_decay 16/16 - - - 1725 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683256.1 protein_coding 15/15 - - - 1495 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683269.1 protein_coding 16/16 - - - 1861 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683647.1 retained_intron 11/11 - - - 5038 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683649.1 protein_coding_CDS_not_defined 4/4 - - - 554 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683783.1 protein_coding 14/14 - - - 1457 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683813.1 retained_intron 9/9 - - - 1432 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684032.1 nonsense_mediated_decay 14/14 - - - 1559 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684201.1 protein_coding 11/11 - - - 1435 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684338.1 protein_coding 13/13 - - - 1782 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684372.1 protein_coding 17/17 - - - 1838 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684434.1 nonsense_mediated_decay 10/10 - - - 1175 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684546.1 protein_coding 16/16 - - - 1714 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684665.1 retained_intron 2/2 - - - 668 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684690.1 retained_intron 11/11 - - - 1931 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684699.1 retained_intron 12/12 - - - 4283 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_001318900.1 protein_coding 13/13 - - - 1414 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_001318901.1 protein_coding 16/16 - - - 1767 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_001318902.1 protein_coding 15/15 - - - 1694 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - A A OK - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_001318904.2 protein_coding 14/14 - - - 2005 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_001318905.2 protein_coding 16/16 - - - 2131 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_001318906.2 protein_coding 14/14 - - - 1838 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript NM_005271.5 protein_coding 13/13 - - - 1778 - - - - - - -1 - EntrezGene HGNC:4335 ENST00000277865.5 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript XM_047425099.1 protein_coding 14/14 - - - 1559 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:87051724-87051724 T 3_prime_UTR_variant MODIFIER GLUD1 2746 Transcript XM_047425100.1 protein_coding 15/15 - - - 3549 - - - - - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000277865.5 protein_coding 13/13 - - - 1726 1652 551 N/S aAt/aGt rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 NM_005271.5 - 1 P1 - Ensembl - T T - tolerated_low_confidence(0.34) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000474574.2 retained_intron 8/8 - - - 3227 - - - - rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000487058.2 retained_intron 5/5 - - - 1399 - - - - rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000681987.1 retained_intron 13/13 - - - 1490 - - - - rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000681988.1 protein_coding 15/15 - - - 1612 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682396.1 nonsense_mediated_decay 15/15 - - - 1643 - - - - rs373705613,COSV53278338 - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000682507.1 protein_coding 13/13 - - - 1339 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682622.1 nonsense_mediated_decay 15/15 - - - 1932 - - - - rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682833.1 nonsense_mediated_decay 12/12 - - - 1487 - - - - rs373705613,COSV53278338 - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683022.1 nonsense_mediated_decay 16/16 - - - 1673 - - - - rs373705613,COSV53278338 - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000683256.1 protein_coding 15/15 - - - 1443 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000683269.1 protein_coding 16/16 - - - 1809 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683647.1 retained_intron 11/11 - - - 4986 - - - - rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683649.1 protein_coding_CDS_not_defined 4/4 - - - 502 - - - - rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000683783.1 protein_coding 14/14 - - - 1405 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683813.1 retained_intron 9/9 - - - 1380 - - - - rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684032.1 nonsense_mediated_decay 14/14 - - - 1507 - - - - rs373705613,COSV53278338 - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000684201.1 protein_coding 11/11 - - - 1383 1376 459 N/S aAt/aGt rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - tolerated_low_confidence(0.21) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C 3_prime_UTR_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684338.1 protein_coding 13/13 - - - 1730 - - - - rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000684372.1 protein_coding 17/17 - - - 1786 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684434.1 nonsense_mediated_decay 10/10 - - - 1123 - - - - rs373705613,COSV53278338 - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000684546.1 protein_coding 16/16 - - - 1662 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684665.1 retained_intron 2/2 - - - 616 - - - - rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684690.1 retained_intron 11/11 - - - 1879 - - - - rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684699.1 retained_intron 12/12 - - - 4231 - - - - rs373705613,COSV53278338 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 2746 Transcript NM_001318900.1 protein_coding 13/13 - - - 1362 1253 418 N/S aAt/aGt rs373705613,COSV53278338 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T OK tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 2746 Transcript NM_001318901.1 protein_coding 16/16 - - - 1715 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T OK tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 2746 Transcript NM_001318902.1 protein_coding 15/15 - - - 1642 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T OK tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 2746 Transcript NM_001318904.2 protein_coding 14/14 - - - 1953 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 2746 Transcript NM_001318905.2 protein_coding 16/16 - - - 2079 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 2746 Transcript NM_001318906.2 protein_coding 14/14 - - - 1786 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 2746 Transcript NM_005271.5 protein_coding 13/13 - - - 1726 1652 551 N/S aAt/aGt rs373705613,COSV53278338 - -1 - EntrezGene HGNC:4335 ENST00000277865.5 - - - - RefSeq - T T - tolerated_low_confidence(0.34) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 2746 Transcript XM_047425099.1 protein_coding 14/14 - - - 1507 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87051776-87051776 C missense_variant MODERATE GLUD1 2746 Transcript XM_047425100.1 protein_coding 15/15 - - - 3497 1151 384 N/S aAt/aGt rs373705613,COSV53278338 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - tolerated_low_confidence(0.27) benign(0) - uncertain_significance 0,1 1,1 - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000277865.5 protein_coding 9/13 - - - 1316 1242 414 D gaC/gaT - - -1 - HGNC HGNC:4335 NM_005271.5 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A downstream_gene_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000465164.1 protein_coding_CDS_not_defined - - - - - - - - - - 264 -1 - HGNC HGNC:4335 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000474574.2 retained_intron 4/8 - - - 2817 - - - - - - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000487058.2 retained_intron 1/5 - - - 989 - - - - - - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000681987.1 retained_intron 9/13 - - - 1080 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000681988.1 protein_coding 11/15 - - - 1202 741 247 D gaC/gaT - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682396.1 nonsense_mediated_decay 11/15 - - - 1233 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000682507.1 protein_coding 9/13 - - - 929 741 247 D gaC/gaT - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682622.1 nonsense_mediated_decay 11/15 - - - 1522 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682833.1 nonsense_mediated_decay 8/12 - - - 1077 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683022.1 nonsense_mediated_decay 12/16 - - - 1263 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000683256.1 protein_coding 11/15 - - - 1033 741 247 D gaC/gaT - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000683269.1 protein_coding 12/16 - - - 1399 741 247 D gaC/gaT - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683647.1 retained_intron 7/11 - - - 4576 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A upstream_gene_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683649.1 protein_coding_CDS_not_defined - - - - - - - - - - 2054 -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000683783.1 protein_coding 10/14 - - - 995 741 247 D gaC/gaT - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683813.1 retained_intron 5/9 - - - 970 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684032.1 nonsense_mediated_decay 10/14 - - - 1097 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000684201.1 protein_coding 7/11 - - - 973 966 322 D gaC/gaT - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000684338.1 protein_coding 9/13 - - - 1242 1242 414 D gaC/gaT - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000684372.1 protein_coding 13/17 - - - 1376 741 247 D gaC/gaT - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A downstream_gene_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684392.1 retained_intron - - - - - - - - - - 530 -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684434.1 nonsense_mediated_decay 6/10 - - - 713 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000684546.1 protein_coding 12/16 - - - 1252 741 247 D gaC/gaT - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684690.1 retained_intron 7/11 - - - 1469 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684699.1 retained_intron 8/12 - - - 3821 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 2746 Transcript NM_001318900.1 protein_coding 9/13 - - - 952 843 281 D gaC/gaT - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 2746 Transcript NM_001318901.1 protein_coding 12/16 - - - 1305 741 247 D gaC/gaT - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 2746 Transcript NM_001318902.1 protein_coding 11/15 - - - 1232 741 247 D gaC/gaT - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G OK - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 2746 Transcript NM_001318904.2 protein_coding 10/14 - - - 1543 741 247 D gaC/gaT - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 2746 Transcript NM_001318905.2 protein_coding 12/16 - - - 1669 741 247 D gaC/gaT - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 2746 Transcript NM_001318906.2 protein_coding 10/14 - - - 1376 741 247 D gaC/gaT - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 2746 Transcript NM_005271.5 protein_coding 9/13 - - - 1316 1242 414 D gaC/gaT - - -1 - EntrezGene HGNC:4335 ENST00000277865.5 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 2746 Transcript XM_047425099.1 protein_coding 10/14 - - - 1097 741 247 D gaC/gaT - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:87060197-87060197 A synonymous_variant LOW GLUD1 2746 Transcript XM_047425100.1 protein_coding 11/15 - - - 3087 741 247 D gaC/gaT - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000277865.5 protein_coding 8/13 - - - 1225 1151 384 S/T aGt/aCt - - -1 - HGNC HGNC:4335 NM_005271.5 - 1 P1 - Ensembl - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000465164.1 protein_coding_CDS_not_defined 2/2 - - - 230 - - - - - - -1 - HGNC HGNC:4335 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000474574.2 retained_intron 3/8 - - - 2726 - - - - - - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000487058.2 retained_intron 1/5 - - - 452 - - - - - - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000681987.1 retained_intron 8/13 - - - 989 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000681988.1 protein_coding 10/15 - - - 1111 650 217 S/T aGt/aCt - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682396.1 nonsense_mediated_decay 10/15 - - - 1142 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000682507.1 protein_coding 8/13 - - - 838 650 217 S/T aGt/aCt - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682622.1 nonsense_mediated_decay 10/15 - - - 1431 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682833.1 nonsense_mediated_decay 7/12 - - - 986 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683022.1 nonsense_mediated_decay 11/16 - - - 1172 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000683256.1 protein_coding 10/15 - - - 942 650 217 S/T aGt/aCt - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000683269.1 protein_coding 11/16 - - - 1308 650 217 S/T aGt/aCt - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683647.1 retained_intron 6/11 - - - 4485 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G upstream_gene_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683649.1 protein_coding_CDS_not_defined - - - - - - - - - - 2591 -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000683783.1 protein_coding 9/14 - - - 904 650 217 S/T aGt/aCt - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683813.1 retained_intron 4/9 - - - 879 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684032.1 nonsense_mediated_decay 9/14 - - - 1006 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G intron_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684201.1 protein_coding - 6/10 - - - - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000684338.1 protein_coding 8/13 - - - 1151 1151 384 S/T aGt/aCt - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000684372.1 protein_coding 12/17 - - - 1285 650 217 S/T aGt/aCt - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684392.1 retained_intron 7/7 - - - 1882 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684434.1 nonsense_mediated_decay 5/10 - - - 622 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000684546.1 protein_coding 11/16 - - - 1161 650 217 S/T aGt/aCt - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684690.1 retained_intron 7/11 - - - 932 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684699.1 retained_intron 8/12 - - - 3284 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 2746 Transcript NM_001318900.1 protein_coding 8/13 - - - 861 752 251 S/T aGt/aCt - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - C C OK tolerated_low_confidence(0.21) benign(0) - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 2746 Transcript NM_001318901.1 protein_coding 11/16 - - - 1214 650 217 S/T aGt/aCt - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - C C OK tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 2746 Transcript NM_001318902.1 protein_coding 10/15 - - - 1141 650 217 S/T aGt/aCt - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - C C OK tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 2746 Transcript NM_001318904.2 protein_coding 9/14 - - - 1452 650 217 S/T aGt/aCt - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 2746 Transcript NM_001318905.2 protein_coding 11/16 - - - 1578 650 217 S/T aGt/aCt - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 2746 Transcript NM_001318906.2 protein_coding 9/14 - - - 1285 650 217 S/T aGt/aCt - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 2746 Transcript NM_005271.5 protein_coding 8/13 - - - 1225 1151 384 S/T aGt/aCt - - -1 - EntrezGene HGNC:4335 ENST00000277865.5 - - - - RefSeq - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 2746 Transcript XM_047425099.1 protein_coding 9/14 - - - 1006 650 217 S/T aGt/aCt - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060734-87060734 G missense_variant MODERATE GLUD1 2746 Transcript XM_047425100.1 protein_coding 10/15 - - - 2996 650 217 S/T aGt/aCt - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - C C - tolerated_low_confidence(0.25) benign(0) - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000277865.5 protein_coding 8/13 - - - 1195 1121 374 A/V gCc/gTc - - -1 - HGNC HGNC:4335 NM_005271.5 - 1 P1 - Ensembl - G G - tolerated_low_confidence(0.34) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000465164.1 protein_coding_CDS_not_defined 2/2 - - - 200 - - - - - - -1 - HGNC HGNC:4335 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000474574.2 retained_intron 3/8 - - - 2696 - - - - - - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000487058.2 retained_intron 1/5 - - - 422 - - - - - - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000681987.1 retained_intron 8/13 - - - 959 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000681988.1 protein_coding 10/15 - - - 1081 620 207 A/V gCc/gTc - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682396.1 nonsense_mediated_decay 10/15 - - - 1112 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000682507.1 protein_coding 8/13 - - - 808 620 207 A/V gCc/gTc - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682622.1 nonsense_mediated_decay 10/15 - - - 1401 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682833.1 nonsense_mediated_decay 7/12 - - - 956 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683022.1 nonsense_mediated_decay 11/16 - - - 1142 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000683256.1 protein_coding 10/15 - - - 912 620 207 A/V gCc/gTc - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000683269.1 protein_coding 11/16 - - - 1278 620 207 A/V gCc/gTc - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683647.1 retained_intron 6/11 - - - 4455 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A upstream_gene_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683649.1 protein_coding_CDS_not_defined - - - - - - - - - - 2621 -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000683783.1 protein_coding 9/14 - - - 874 620 207 A/V gCc/gTc - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683813.1 retained_intron 4/9 - - - 849 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684032.1 nonsense_mediated_decay 9/14 - - - 976 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A intron_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684201.1 protein_coding - 6/10 - - - - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000684338.1 protein_coding 8/13 - - - 1121 1121 374 A/V gCc/gTc - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - tolerated_low_confidence(0.36) benign(0) - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000684372.1 protein_coding 12/17 - - - 1255 620 207 A/V gCc/gTc - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684392.1 retained_intron 7/7 - - - 1852 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684434.1 nonsense_mediated_decay 5/10 - - - 592 - - - - - - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 ENSG00000148672 Transcript ENST00000684546.1 protein_coding 11/16 - - - 1131 620 207 A/V gCc/gTc - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684690.1 retained_intron 7/11 - - - 902 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684699.1 retained_intron 8/12 - - - 3254 - - - - - - -1 - HGNC HGNC:4335 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 2746 Transcript NM_001318900.1 protein_coding 8/13 - - - 831 722 241 A/V gCc/gTc - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G OK tolerated_low_confidence(0.4) benign(0.005) - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 2746 Transcript NM_001318901.1 protein_coding 11/16 - - - 1184 620 207 A/V gCc/gTc - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G OK tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 2746 Transcript NM_001318902.1 protein_coding 10/15 - - - 1111 620 207 A/V gCc/gTc - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G OK tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 2746 Transcript NM_001318904.2 protein_coding 9/14 - - - 1422 620 207 A/V gCc/gTc - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G - tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 2746 Transcript NM_001318905.2 protein_coding 11/16 - - - 1548 620 207 A/V gCc/gTc - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G - tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 2746 Transcript NM_001318906.2 protein_coding 9/14 - - - 1255 620 207 A/V gCc/gTc - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G - tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 2746 Transcript NM_005271.5 protein_coding 8/13 - - - 1195 1121 374 A/V gCc/gTc - - -1 - EntrezGene HGNC:4335 ENST00000277865.5 - - - - RefSeq - G G - tolerated_low_confidence(0.34) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 2746 Transcript XM_047425099.1 protein_coding 9/14 - - - 976 620 207 A/V gCc/gTc - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G - tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87060764-87060764 A missense_variant MODERATE GLUD1 2746 Transcript XM_047425100.1 protein_coding 10/15 - - - 2966 620 207 A/V gCc/gTc - - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - G G - tolerated_low_confidence(0.41) benign(0.014) - - - - - - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000277865.5 protein_coding 7/13 - - - 1016 942 314 L ctA/ctG rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 NM_005271.5 - 1 P1 - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000465164.1 protein_coding_CDS_not_defined 1/2 - - - 21 - - - - rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - 2 - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000474574.2 retained_intron 2/8 - - - 2517 - - - - rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000487058.2 retained_intron 1/5 - - - 154 - - - - rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - 3 - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000681987.1 retained_intron 7/13 - - - 780 - - - - rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000681988.1 protein_coding 9/15 - - - 902 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682396.1 nonsense_mediated_decay 9/15 - - - 933 - - - - rs9421572,COSV53278976 - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000682507.1 protein_coding 7/13 - - - 629 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682622.1 nonsense_mediated_decay 9/15 - - - 1222 - - - - rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000682833.1 nonsense_mediated_decay 6/12 - - - 777 - - - - rs9421572,COSV53278976 - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683022.1 nonsense_mediated_decay 10/16 - - - 963 - - - - rs9421572,COSV53278976 - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000683256.1 protein_coding 9/15 - - - 733 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000683269.1 protein_coding 10/16 - - - 1099 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683647.1 retained_intron 5/11 - - - 4276 - - - - rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C upstream_gene_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683649.1 protein_coding_CDS_not_defined - - - - - - - - - rs9421572,COSV53278976 2889 -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000683783.1 protein_coding 8/14 - - - 695 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000683813.1 retained_intron 3/9 - - - 670 - - - - rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684032.1 nonsense_mediated_decay 8/14 - - - 797 - - - - rs9421572,COSV53278976 - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C intron_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684201.1 protein_coding - 6/10 - - - - - - - rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000684338.1 protein_coding 7/13 - - - 942 942 314 L ctA/ctG rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000684372.1 protein_coding 11/17 - - - 1076 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684392.1 retained_intron 6/7 - - - 1673 - - - - rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684434.1 nonsense_mediated_decay 4/10 - - - 413 - - - - rs9421572,COSV53278976 - -1 cds_start_NF HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 ENSG00000148672 Transcript ENST00000684546.1 protein_coding 10/16 - - - 952 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684690.1 retained_intron 6/11 - - - 723 - - - - rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C non_coding_transcript_exon_variant MODIFIER GLUD1 ENSG00000148672 Transcript ENST00000684699.1 retained_intron 7/12 - - - 3075 - - - - rs9421572,COSV53278976 - -1 - HGNC HGNC:4335 - - - - - Ensembl - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 2746 Transcript NM_001318900.1 protein_coding 7/13 - - - 652 543 181 L ctA/ctG rs9421572,COSV53278976 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T OK - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 2746 Transcript NM_001318901.1 protein_coding 10/16 - - - 1005 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T OK - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 2746 Transcript NM_001318902.1 protein_coding 9/15 - - - 932 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T OK - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 2746 Transcript NM_001318904.2 protein_coding 8/14 - - - 1243 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 2746 Transcript NM_001318905.2 protein_coding 10/16 - - - 1369 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 2746 Transcript NM_001318906.2 protein_coding 8/14 - - - 1076 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 2746 Transcript NM_005271.5 protein_coding 7/13 - - - 1016 942 314 L ctA/ctG rs9421572,COSV53278976 - -1 - EntrezGene HGNC:4335 ENST00000277865.5 - - - - RefSeq - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 2746 Transcript XM_047425099.1 protein_coding 8/14 - - - 797 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87061032-87061032 C synonymous_variant LOW GLUD1 2746 Transcript XM_047425100.1 protein_coding 9/15 - - - 2787 441 147 L ctA/ctG rs9421572,COSV53278976 - -1 - EntrezGene HGNC:4335 - - - - - RefSeq - T T - - - 0.1677 benign 0,1 1,1 25741868,26740944,34789196 - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 ENSG00000122376 Transcript ENST00000298784.5 protein_coding 3/9 - - - 330 216 72 D gaT/gaC rs117866241 - 1 - HGNC HGNC:28773 - - 2 - - Ensembl - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 ENSG00000122376 Transcript ENST00000298786.5 protein_coding 3/10 - - - 320 216 72 D gaT/gaC rs117866241 - 1 - HGNC HGNC:28773 NM_001330112.2 - 5 P1 - Ensembl - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 ENSG00000122376 Transcript ENST00000437629.6 protein_coding 3/3 - - - 905 216 72 D gaT/gaC rs117866241 - 1 cds_end_NF HGNC HGNC:28773 - - 3 - - Ensembl - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C downstream_gene_variant MODIFIER RN7SL733P ENSG00000273946 Transcript ENST00000582253.2 misc_RNA - - - - - - - - - rs117866241 2471 -1 - HGNC HGNC:46749 - - - - - Ensembl - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001330112.2 protein_coding 3/10 - - - 320 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 ENST00000298786.5 - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377158.1 protein_coding 2/8 - - - 264 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377159.1 protein_coding 4/10 - - - 436 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377160.1 protein_coding 3/10 - - - 320 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377161.1 protein_coding 3/10 - - - 320 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377162.1 protein_coding 2/8 - - - 264 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377163.1 protein_coding 3/10 - - - 320 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377164.1 protein_coding 2/7 - - - 264 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377165.1 protein_coding 3/8 - - - 320 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377166.1 protein_coding 3/10 - - - 320 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377167.1 protein_coding 4/11 - - - 436 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377168.1 protein_coding 4/11 - - - 368 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377169.1 protein_coding 3/10 - - - 320 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377170.1 protein_coding - 2/9 - - - - - - - rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377171.1 protein_coding 3/11 - - - 320 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377172.1 protein_coding 3/9 - - - 320 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript NM_019054.3 protein_coding 3/9 - - - 320 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165105.1 misc_RNA - 2/7 - - - - - - - rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165106.1 misc_RNA - 3/9 - - - - - - - rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165108.1 misc_RNA - 2/8 - - - - - - - rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_006717905.4 protein_coding 2/10 - - - 244 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_011539877.3 protein_coding 4/12 - - - 386 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_011539879.3 protein_coding 2/10 - - - 229 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425370.1 protein_coding 2/10 - - - 537 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425371.1 protein_coding 2/10 - - - 537 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425372.1 protein_coding 2/9 - - - 537 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425373.1 protein_coding 2/9 - - - 537 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425374.1 protein_coding 2/9 - - - 537 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425375.1 protein_coding 2/9 - - - 537 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425376.1 protein_coding 2/8 - - - 537 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425377.1 protein_coding 2/8 - - - 537 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425378.1 protein_coding 2/10 - - - 537 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425379.1 protein_coding 2/9 - - - 537 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87151570-87151570 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425380.1 protein_coding 2/8 - - - 537 216 72 D gaT/gaC rs117866241 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.0014 - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 ENSG00000122376 Transcript ENST00000298784.5 protein_coding 3/9 - - - 1221 1107 369 N aaT/aaC - - 1 - HGNC HGNC:28773 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 ENSG00000122376 Transcript ENST00000298786.5 protein_coding 3/10 - - - 1211 1107 369 N aaT/aaC - - 1 - HGNC HGNC:28773 NM_001330112.2 - 5 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:87152461-87152461 C downstream_gene_variant MODIFIER SHLD2 ENSG00000122376 Transcript ENST00000437629.6 protein_coding - - - - - - - - - - 827 1 cds_end_NF HGNC HGNC:28773 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:87152461-87152461 C downstream_gene_variant MODIFIER RN7SL733P ENSG00000273946 Transcript ENST00000582253.2 misc_RNA - - - - - - - - - - 1580 -1 - HGNC HGNC:46749 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript NM_001330112.2 protein_coding 3/10 - - - 1211 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 ENST00000298786.5 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377158.1 protein_coding 2/8 - - - 1155 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377159.1 protein_coding 4/10 - - - 1327 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377160.1 protein_coding 3/10 - - - 1211 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377161.1 protein_coding 3/10 - - - 1211 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377162.1 protein_coding 2/8 - - - 1155 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377163.1 protein_coding 3/10 - - - 1211 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377164.1 protein_coding 2/7 - - - 1155 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377165.1 protein_coding 3/8 - - - 1211 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377166.1 protein_coding - 3/9 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377167.1 protein_coding - 4/10 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377168.1 protein_coding - 4/10 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377169.1 protein_coding - 3/9 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377170.1 protein_coding - 3/9 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377171.1 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377172.1 protein_coding - 3/8 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript NM_019054.3 protein_coding 3/9 - - - 1211 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165105.1 misc_RNA - 2/7 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165106.1 misc_RNA - 3/9 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165108.1 misc_RNA - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript XM_006717905.4 protein_coding 2/10 - - - 1135 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript XM_011539877.3 protein_coding 4/12 - - - 1277 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript XM_011539879.3 protein_coding 2/10 - - - 1120 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425370.1 protein_coding 2/10 - - - 1428 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425371.1 protein_coding 2/10 - - - 1428 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425372.1 protein_coding 2/9 - - - 1428 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425373.1 protein_coding 2/9 - - - 1428 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425374.1 protein_coding 2/9 - - - 1428 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425375.1 protein_coding 2/9 - - - 1428 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425376.1 protein_coding 2/8 - - - 1428 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425377.1 protein_coding 2/8 - - - 1428 1107 369 N aaT/aaC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant MODIFIER SHLD2 54537 Transcript XM_047425378.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant MODIFIER SHLD2 54537 Transcript XM_047425379.1 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152461-87152461 C intron_variant MODIFIER SHLD2 54537 Transcript XM_047425380.1 protein_coding - 2/7 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 ENSG00000122376 Transcript ENST00000298784.5 protein_coding 3/9 - - - 1254 1140 380 C tgT/tgC - - 1 - HGNC HGNC:28773 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 ENSG00000122376 Transcript ENST00000298786.5 protein_coding 3/10 - - - 1244 1140 380 C tgT/tgC - - 1 - HGNC HGNC:28773 NM_001330112.2 - 5 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:87152494-87152494 C downstream_gene_variant MODIFIER SHLD2 ENSG00000122376 Transcript ENST00000437629.6 protein_coding - - - - - - - - - - 860 1 cds_end_NF HGNC HGNC:28773 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:87152494-87152494 C downstream_gene_variant MODIFIER RN7SL733P ENSG00000273946 Transcript ENST00000582253.2 misc_RNA - - - - - - - - - - 1547 -1 - HGNC HGNC:46749 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript NM_001330112.2 protein_coding 3/10 - - - 1244 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 ENST00000298786.5 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377158.1 protein_coding 2/8 - - - 1188 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377159.1 protein_coding 4/10 - - - 1360 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377160.1 protein_coding 3/10 - - - 1244 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377161.1 protein_coding 3/10 - - - 1244 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377162.1 protein_coding 2/8 - - - 1188 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377163.1 protein_coding 3/10 - - - 1244 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377164.1 protein_coding 2/7 - - - 1188 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377165.1 protein_coding 3/8 - - - 1244 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377166.1 protein_coding - 3/9 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377167.1 protein_coding - 4/10 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377168.1 protein_coding - 4/10 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377169.1 protein_coding - 3/9 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377170.1 protein_coding - 3/9 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377171.1 protein_coding - 3/10 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377172.1 protein_coding - 3/8 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript NM_019054.3 protein_coding 3/9 - - - 1244 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165105.1 misc_RNA - 2/7 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165106.1 misc_RNA - 3/9 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165108.1 misc_RNA - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript XM_006717905.4 protein_coding 2/10 - - - 1168 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript XM_011539877.3 protein_coding 4/12 - - - 1310 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript XM_011539879.3 protein_coding 2/10 - - - 1153 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425370.1 protein_coding 2/10 - - - 1461 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425371.1 protein_coding 2/10 - - - 1461 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425372.1 protein_coding 2/9 - - - 1461 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425373.1 protein_coding 2/9 - - - 1461 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425374.1 protein_coding 2/9 - - - 1461 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425375.1 protein_coding 2/9 - - - 1461 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425376.1 protein_coding 2/8 - - - 1461 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425377.1 protein_coding 2/8 - - - 1461 1140 380 C tgT/tgC - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant MODIFIER SHLD2 54537 Transcript XM_047425378.1 protein_coding - 2/9 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant MODIFIER SHLD2 54537 Transcript XM_047425379.1 protein_coding - 2/8 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87152494-87152494 C intron_variant MODIFIER SHLD2 54537 Transcript XM_047425380.1 protein_coding - 2/7 - - - - - - - - - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 ENSG00000122376 Transcript ENST00000298784.5 protein_coding 5/9 - - - 1762 1648 550 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - HGNC HGNC:28773 - - 2 - - Ensembl - A A - deleterious(0.01) possibly_damaging(0.734) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 ENSG00000122376 Transcript ENST00000298786.5 protein_coding 5/10 - - - 1752 1648 550 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - HGNC HGNC:28773 NM_001330112.2 - 5 P1 - Ensembl - A A - deleterious(0) possibly_damaging(0.895) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001330112.2 protein_coding 5/10 - - - 1752 1648 550 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 ENST00000298786.5 - - - - RefSeq - A A - deleterious(0) possibly_damaging(0.895) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377158.1 protein_coding 4/8 - - - 1696 1648 550 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) possibly_damaging(0.734) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377159.1 protein_coding 6/10 - - - 1868 1648 550 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) possibly_damaging(0.734) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377160.1 protein_coding 6/10 - - - 1896 1792 598 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0) probably_damaging(0.938) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377161.1 protein_coding 5/10 - - - 1752 1648 550 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) possibly_damaging(0.86) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377162.1 protein_coding 3/8 - - - 1588 1540 514 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0) possibly_damaging(0.849) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377163.1 protein_coding 5/10 - - - 1752 1648 550 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) possibly_damaging(0.86) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377164.1 protein_coding 3/7 - - - 1588 1540 514 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0) possibly_damaging(0.849) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377165.1 protein_coding 4/8 - - - 1644 1540 514 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0) possibly_damaging(0.849) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377166.1 protein_coding 5/10 - - - 705 601 201 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) probably_damaging(0.929) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377167.1 protein_coding 6/11 - - - 821 601 201 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) probably_damaging(0.929) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377168.1 protein_coding 6/11 - - - 753 601 201 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) probably_damaging(0.929) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377169.1 protein_coding 5/10 - - - 705 601 201 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) probably_damaging(0.929) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377170.1 protein_coding 5/10 - - - 400 244 82 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) possibly_damaging(0.801) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377171.1 protein_coding 5/11 - - - 705 601 201 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.02) probably_damaging(0.966) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_001377172.1 protein_coding 5/9 - - - 705 601 201 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - tolerated(0.06) probably_damaging(0.961) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript NM_019054.3 protein_coding 5/9 - - - 1752 1648 550 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) possibly_damaging(0.734) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T non_coding_transcript_exon_variant MODIFIER SHLD2 54537 Transcript NR_165105.1 misc_RNA 4/8 - - - 222 - - - - rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T non_coding_transcript_exon_variant MODIFIER SHLD2 54537 Transcript NR_165106.1 misc_RNA 5/10 - - - 503 - - - - rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T non_coding_transcript_exon_variant MODIFIER SHLD2 54537 Transcript NR_165108.1 misc_RNA 4/9 - - - 222 - - - - rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_006717905.4 protein_coding 5/10 - - - 1820 1792 598 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_011539877.3 protein_coding 7/12 - - - 1962 1792 598 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_011539879.3 protein_coding 5/10 - - - 1805 1792 598 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_047425370.1 protein_coding 5/10 - - - 2113 1792 598 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_047425371.1 protein_coding 5/10 - - - 2113 1792 598 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_047425372.1 protein_coding 4/9 - - - 1969 1648 550 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0) possibly_damaging(0.895) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_047425373.1 protein_coding 4/9 - - - 1969 1648 550 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) possibly_damaging(0.86) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_047425374.1 protein_coding 5/9 - - - 2113 1792 598 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0) probably_damaging(0.938) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_047425375.1 protein_coding 5/9 - - - 2113 1792 598 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_047425376.1 protein_coding 4/8 - - - 1969 1648 550 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) possibly_damaging(0.734) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_047425377.1 protein_coding 4/8 - - - 1969 1648 550 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_047425378.1 protein_coding 5/10 - - - 1066 745 249 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_047425379.1 protein_coding 4/9 - - - 922 601 201 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - deleterious(0.01) probably_damaging(0.929) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T missense_variant MODERATE SHLD2 54537 Transcript XM_047425380.1 protein_coding 4/8 - - - 922 601 201 S/C Agt/Tgt rs11202365,COSV53955025,COSV53957749 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - tolerated(0.06) probably_damaging(0.961) 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T intron_variant,non_coding_transcript_variant MODIFIER LOC124902475 124902475 Transcript XR_007062222.1 lncRNA - 1/2 - - - - - - - rs11202365,COSV53955025,COSV53957749 - -1 - EntrezGene - - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87170492-87170492 T intron_variant,non_coding_transcript_variant MODIFIER LOC124902475 124902475 Transcript XR_007062223.1 lncRNA - 1/2 - - - - - - - rs11202365,COSV53955025,COSV53957749 - -1 - EntrezGene - - - - - - RefSeq - A A - - - 0.2754 - 0,1,1 1,1,1 29942023,32327693 - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 ENSG00000122376 Transcript ENST00000298784.5 protein_coding - 6/8 - - - - - - - rs11202370,COSV53955539 - 1 - HGNC HGNC:28773 - - 2 - - Ensembl - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 ENSG00000122376 Transcript ENST00000298786.5 protein_coding - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - HGNC HGNC:28773 NM_001330112.2 - 5 P1 - Ensembl - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001330112.2 protein_coding - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 ENST00000298786.5 - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377158.1 protein_coding - 5/7 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377159.1 protein_coding - 7/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377160.1 protein_coding - 7/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377161.1 protein_coding - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377162.1 protein_coding - 4/7 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377163.1 protein_coding - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377164.1 protein_coding - 4/6 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377165.1 protein_coding - 5/7 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377166.1 protein_coding - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377167.1 protein_coding - 7/10 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377168.1 protein_coding - 7/10 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377169.1 protein_coding - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377170.1 protein_coding - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377171.1 protein_coding - 7/10 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_001377172.1 protein_coding - 6/8 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript NM_019054.3 protein_coding - 6/8 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165105.1 misc_RNA - 5/7 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165106.1 misc_RNA - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165108.1 misc_RNA - 5/8 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_006717905.4 protein_coding - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_011539877.3 protein_coding - 8/11 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_011539879.3 protein_coding - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_047425370.1 protein_coding - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_047425371.1 protein_coding - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_047425372.1 protein_coding - 5/8 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_047425373.1 protein_coding - 5/8 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_047425374.1 protein_coding - 6/8 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_047425375.1 protein_coding - 6/8 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_047425376.1 protein_coding - 5/7 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_047425377.1 protein_coding - 5/7 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_047425378.1 protein_coding - 6/9 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_047425379.1 protein_coding - 5/8 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G intron_variant MODIFIER SHLD2 54537 Transcript XM_047425380.1 protein_coding - 5/7 - - - - - - - rs11202370,COSV53955539 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G upstream_gene_variant MODIFIER LOC124902475 124902475 Transcript XR_007062222.1 lncRNA - - - - - - - - - rs11202370,COSV53955539 3161 -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87175833-87175833 G upstream_gene_variant MODIFIER LOC124902475 124902475 Transcript XR_007062223.1 lncRNA - - - - - - - - - rs11202370,COSV53955539 4545 -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.5917 - 0,1 0,1 - - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 ENSG00000122376 Transcript ENST00000298784.5 protein_coding 7/9 - - - 2208 2094 698 G ggT/ggC rs7081609,COSV53955464 - 1 - HGNC HGNC:28773 - - 2 - - Ensembl - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 ENSG00000122376 Transcript ENST00000298786.5 protein_coding 8/10 - - - 2405 2301 767 G ggT/ggC rs7081609,COSV53955464 - 1 - HGNC HGNC:28773 NM_001330112.2 - 5 P1 - Ensembl - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001330112.2 protein_coding 8/10 - - - 2405 2301 767 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 ENST00000298786.5 - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377158.1 protein_coding 6/8 - - - 2142 2094 698 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377159.1 protein_coding 8/10 - - - 2314 2094 698 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377160.1 protein_coding 8/10 - - - 2342 2238 746 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377161.1 protein_coding 8/10 - - - 2354 2250 750 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377162.1 protein_coding 6/8 - - - 2241 2193 731 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C intron_variant MODIFIER SHLD2 54537 Transcript NM_001377163.1 protein_coding - 7/9 - - - - - - - rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377164.1 protein_coding 5/7 - - - 2034 1986 662 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377165.1 protein_coding 6/8 - - - 2090 1986 662 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377166.1 protein_coding 8/10 - - - 1358 1254 418 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377167.1 protein_coding 9/11 - - - 1474 1254 418 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377168.1 protein_coding 9/11 - - - 1406 1254 418 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377169.1 protein_coding 8/10 - - - 1358 1254 418 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377170.1 protein_coding 8/10 - - - 1053 897 299 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377171.1 protein_coding 9/11 - - - 1454 1350 450 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_001377172.1 protein_coding 7/9 - - - 1151 1047 349 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript NM_019054.3 protein_coding 7/9 - - - 2198 2094 698 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C non_coding_transcript_exon_variant MODIFIER SHLD2 54537 Transcript NR_165105.1 misc_RNA 6/8 - - - 668 - - - - rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C non_coding_transcript_exon_variant MODIFIER SHLD2 54537 Transcript NR_165106.1 misc_RNA 8/10 - - - 1156 - - - - rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C non_coding_transcript_exon_variant MODIFIER SHLD2 54537 Transcript NR_165108.1 misc_RNA 7/9 - - - 875 - - - - rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_006717905.4 protein_coding 8/10 - - - 2473 2445 815 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_011539877.3 protein_coding 10/12 - - - 2615 2445 815 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_011539879.3 protein_coding 8/10 - - - 2458 2445 815 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425370.1 protein_coding 8/10 - - - 2766 2445 815 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425371.1 protein_coding 8/10 - - - 2715 2394 798 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425372.1 protein_coding 7/9 - - - 2622 2301 767 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425373.1 protein_coding 7/9 - - - 2571 2250 750 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425374.1 protein_coding 7/9 - - - 2559 2238 746 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425375.1 protein_coding 7/9 - - - 2508 2187 729 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425376.1 protein_coding 6/8 - - - 2415 2094 698 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425377.1 protein_coding 6/8 - - - 2364 2043 681 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425378.1 protein_coding 8/10 - - - 1719 1398 466 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425379.1 protein_coding 7/9 - - - 1575 1254 418 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180205-87180205 C synonymous_variant LOW SHLD2 54537 Transcript XM_047425380.1 protein_coding 6/8 - - - 1368 1047 349 G ggT/ggC rs7081609,COSV53955464 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - T T - - - 0.7933 - 0,1 1,1 33356394 - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 ENSG00000122376 Transcript ENST00000298784.5 protein_coding - 7/8 - - - - - - - rs10887700,COSV53955547 - 1 - HGNC HGNC:28773 - - 2 - - Ensembl - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 ENSG00000122376 Transcript ENST00000298786.5 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - HGNC HGNC:28773 NM_001330112.2 - 5 P1 - Ensembl - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001330112.2 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 ENST00000298786.5 - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377158.1 protein_coding - 6/7 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377159.1 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377160.1 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377161.1 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377162.1 protein_coding - 6/7 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377163.1 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377164.1 protein_coding - 5/6 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377165.1 protein_coding - 6/7 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377166.1 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377167.1 protein_coding - 9/10 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377168.1 protein_coding - 9/10 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377169.1 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377170.1 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377171.1 protein_coding - 9/10 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_001377172.1 protein_coding - 7/8 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript NM_019054.3 protein_coding - 7/8 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165105.1 misc_RNA - 6/7 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165106.1 misc_RNA - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant,non_coding_transcript_variant MODIFIER SHLD2 54537 Transcript NR_165108.1 misc_RNA - 7/8 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_006717905.4 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_011539877.3 protein_coding - 10/11 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_011539879.3 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_047425370.1 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_047425371.1 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_047425372.1 protein_coding - 7/8 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_047425373.1 protein_coding - 7/8 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_047425374.1 protein_coding - 7/8 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_047425375.1 protein_coding - 7/8 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_047425376.1 protein_coding - 6/7 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_047425377.1 protein_coding - 6/7 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_047425378.1 protein_coding - 8/9 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_047425379.1 protein_coding - 7/8 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87180339-87180339 T intron_variant MODIFIER SHLD2 54537 Transcript XM_047425380.1 protein_coding - 6/7 - - - - - - - rs10887700,COSV53955547 - 1 - EntrezGene HGNC:28773 - - - - - RefSeq - A A - - - 0.5000 - 0,1 0,1 - - - - - - . 10:87365854-87365854 G intron_variant MODIFIER NUTM2D ENSG00000214562 Transcript ENST00000381697.7 protein_coding - 6/6 - - - - - - - rs4934329,COSV67745903 - 1 - HGNC HGNC:23447 NM_001382304.1 - 1 P1 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:87365854-87365854 G intron_variant MODIFIER NUTM2D ENSG00000214562 Transcript ENST00000412718.3 protein_coding - 6/6 - - - - - - - rs4934329,COSV67745903 - 1 - HGNC HGNC:23447 - - 5 - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:87365854-87365854 G missense_variant MODERATE NUTM2D ENSG00000214562 Transcript ENST00000465545.1 protein_coding 2/2 - - - 381 382 128 L/V Cta/Gta rs4934329,COSV67745903 - 1 cds_start_NF HGNC HGNC:23447 - - 2 - - Ensembl - C C - tolerated_low_confidence(0.2) benign(0) - - 0,1 0,1 - - - - - - . 10:87365854-87365854 G intron_variant MODIFIER NUTM2D 728130 Transcript NM_001009610.2 protein_coding - 6/6 - - - - - - - rs4934329,COSV67745903 - 1 - EntrezGene HGNC:23447 - - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:87365854-87365854 G intron_variant MODIFIER NUTM2D 728130 Transcript NM_001382304.1 protein_coding - 6/6 - - - - - - - rs4934329,COSV67745903 - 1 - EntrezGene HGNC:23447 ENST00000381697.7 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:87642783-87642783 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000196566 Transcript ENST00000354527.2 lncRNA - 1/3 - - - - - - - rs1037750949 - -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:87642783-87642783 C non_coding_transcript_exon_variant MODIFIER RPS26P38 ENSG00000234192 Transcript ENST00000414476.1 processed_pseudogene 1/1 - - - 177 - - - - rs1037750949 - 1 - HGNC HGNC:36406 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87642783-87642783 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000225913 Transcript ENST00000438082.1 lncRNA - 2/3 - - - - - - - rs1037750949 - 1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:87642783-87642783 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001180402 enhancer - - - - - - - - - rs1037750949 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:87642797-87642797 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000196566 Transcript ENST00000354527.2 lncRNA - 1/3 - - - - - - - rs899263702 - -1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:87642797-87642797 T non_coding_transcript_exon_variant MODIFIER RPS26P38 ENSG00000234192 Transcript ENST00000414476.1 processed_pseudogene 1/1 - - - 191 - - - - rs899263702 - 1 - HGNC HGNC:36406 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:87642797-87642797 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000225913 Transcript ENST00000438082.1 lncRNA - 2/3 - - - - - - - rs899263702 - 1 - - - - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:87642797-87642797 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001180402 enhancer - - - - - - - - - rs899263702 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:87642865-87642865 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000196566 Transcript ENST00000354527.2 lncRNA - 1/3 - - - - - - - rs906774183 - -1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:87642865-87642865 C non_coding_transcript_exon_variant MODIFIER RPS26P38 ENSG00000234192 Transcript ENST00000414476.1 processed_pseudogene 1/1 - - - 259 - - - - rs906774183 - 1 - HGNC HGNC:36406 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:87642865-87642865 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000225913 Transcript ENST00000438082.1 lncRNA - 2/3 - - - - - - - rs906774183 - 1 - - - - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:87642982-87642982 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000196566 Transcript ENST00000354527.2 lncRNA - 1/3 - - - - - - - rs7070474 - -1 - - - - - 3 - - Ensembl - A A - - - 0.5108 - - - - - - - - - . 10:87642982-87642982 G downstream_gene_variant MODIFIER RPS26P38 ENSG00000234192 Transcript ENST00000414476.1 processed_pseudogene - - - - - - - - - rs7070474 28 1 - HGNC HGNC:36406 - - - - - Ensembl - A A - - - 0.5108 - - - - - - - - - . 10:87642982-87642982 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000225913 Transcript ENST00000438082.1 lncRNA - 2/3 - - - - - - - rs7070474 - 1 - - - - - 3 - - Ensembl - A A - - - 0.5108 - - - - - - - - - . 10:87703703-87703703 C intron_variant MODIFIER PAPSS2 ENSG00000198682 Transcript ENST00000361175.8 protein_coding - 1/11 - - - - - - - rs7923151,COSV63265082 - 1 - HGNC HGNC:8604 - - 1 P4 - Ensembl - G G - - - 0.5467 - 0,1 0,1 - - - - - - . 10:87703703-87703703 C intron_variant MODIFIER PAPSS2 ENSG00000198682 Transcript ENST00000456849.2 protein_coding - 1/12 - - - - - - - rs7923151,COSV63265082 - 1 - HGNC HGNC:8604 NM_001015880.2 - 1 A1 - Ensembl - G G - - - 0.5467 - 0,1 0,1 - - - - - - . 10:87703703-87703703 C intron_variant,non_coding_transcript_variant MODIFIER PAPSS2 ENSG00000198682 Transcript ENST00000465996.5 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs7923151,COSV63265082 - 1 - HGNC HGNC:8604 - - 2 - - Ensembl - G G - - - 0.5467 - 0,1 0,1 - - - - - - . 10:87703703-87703703 C intron_variant,non_coding_transcript_variant MODIFIER PAPSS2 ENSG00000198682 Transcript ENST00000482258.1 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs7923151,COSV63265082 - 1 - HGNC HGNC:8604 - - 5 - - Ensembl - G G - - - 0.5467 - 0,1 0,1 - - - - - - . 10:87703703-87703703 C intron_variant MODIFIER PAPSS2 9060 Transcript NM_001015880.2 protein_coding - 1/12 - - - - - - - rs7923151,COSV63265082 - 1 - EntrezGene HGNC:8604 ENST00000456849.2 - - - - RefSeq - G G - - - 0.5467 - 0,1 0,1 - - - - - - . 10:87703703-87703703 C intron_variant MODIFIER PAPSS2 9060 Transcript NM_004670.4 protein_coding - 1/11 - - - - - - - rs7923151,COSV63265082 - 1 - EntrezGene HGNC:8604 - - - - - RefSeq - G G - - - 0.5467 - 0,1 0,1 - - - - - - . 10:87703723-87703723 A intron_variant MODIFIER PAPSS2 ENSG00000198682 Transcript ENST00000361175.8 protein_coding - 1/11 - - - - - - - rs7923162,COSV63264567 - 1 - HGNC HGNC:8604 - - 1 P4 - Ensembl - G G - - - 0.2588 - 0,1 0,1 - - - - - - . 10:87703723-87703723 A intron_variant MODIFIER PAPSS2 ENSG00000198682 Transcript ENST00000456849.2 protein_coding - 1/12 - - - - - - - rs7923162,COSV63264567 - 1 - HGNC HGNC:8604 NM_001015880.2 - 1 A1 - Ensembl - G G - - - 0.2588 - 0,1 0,1 - - - - - - . 10:87703723-87703723 A intron_variant,non_coding_transcript_variant MODIFIER PAPSS2 ENSG00000198682 Transcript ENST00000465996.5 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs7923162,COSV63264567 - 1 - HGNC HGNC:8604 - - 2 - - Ensembl - G G - - - 0.2588 - 0,1 0,1 - - - - - - . 10:87703723-87703723 A intron_variant,non_coding_transcript_variant MODIFIER PAPSS2 ENSG00000198682 Transcript ENST00000482258.1 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs7923162,COSV63264567 - 1 - HGNC HGNC:8604 - - 5 - - Ensembl - G G - - - 0.2588 - 0,1 0,1 - - - - - - . 10:87703723-87703723 A intron_variant MODIFIER PAPSS2 9060 Transcript NM_001015880.2 protein_coding - 1/12 - - - - - - - rs7923162,COSV63264567 - 1 - EntrezGene HGNC:8604 ENST00000456849.2 - - - - RefSeq - G G - - - 0.2588 - 0,1 0,1 - - - - - - . 10:87703723-87703723 A intron_variant MODIFIER PAPSS2 9060 Transcript NM_004670.4 protein_coding - 1/11 - - - - - - - rs7923162,COSV63264567 - 1 - EntrezGene HGNC:8604 - - - - - RefSeq - G G - - - 0.2588 - 0,1 0,1 - - - - - - . 10:87864471-87864471 G start_lost HIGH PTEN ENSG00000171862 Transcript ENST00000371953.8 protein_coding 1/9 - - - 847 2 1 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 NM_000314.8 - 1 P1 - Ensembl - T T - deleterious(0) probably_damaging(0.92) - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G upstream_gene_variant MODIFIER KLLN ENSG00000227268 Transcript ENST00000445946.5 protein_coding - - - - - - - - - COSV105289760,COSV64290003,COSV64299893 938 -1 - HGNC HGNC:37212 NM_001126049.2 - - P1 - Ensembl - T T - - - - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G non_coding_transcript_exon_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000462694.1 retained_intron 1/2 - - - 4 - - - - COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 - - 2 - - Ensembl - T T - - - - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G start_lost HIGH PTEN ENSG00000171862 Transcript ENST00000472832.3 protein_coding 1/8 - - - 143 2 1 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 - - 2 - - Ensembl - T T - deleterious(0) possibly_damaging(0.872) - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G non_coding_transcript_exon_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000487939.1 protein_coding_CDS_not_defined 1/2 - - - 23 - - - - COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 - - 3 - - Ensembl - T T - - - - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G start_lost,NMD_transcript_variant HIGH PTEN ENSG00000171862 Transcript ENST00000686459.1 nonsense_mediated_decay 1/10 - - - 144 2 1 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 - - - - - Ensembl - T T - deleterious_low_confidence(0) probably_damaging(0.977) - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G start_lost HIGH PTEN ENSG00000171862 Transcript ENST00000688308.1 protein_coding 2/10 - - - 494 2 1 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 - - - P1 - Ensembl - T T - deleterious(0) probably_damaging(0.92) - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G start_lost,NMD_transcript_variant HIGH PTEN ENSG00000171862 Transcript ENST00000688922.2 nonsense_mediated_decay 1/10 - - - 143 2 1 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 - - - - - Ensembl - T T - deleterious_low_confidence(0) probably_damaging(0.917) - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G downstream_gene_variant MODIFIER - ENSG00000289051 Transcript ENST00000692337.1 protein_coding - - - - - - - - - COSV105289760,COSV64290003,COSV64299893 817 1 - - - - - - P1 - Ensembl - T T - - - - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G missense_variant MODERATE PTEN ENSG00000171862 Transcript ENST00000693560.1 protein_coding 2/10 - - - 1033 521 174 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 - - - - - Ensembl - T T - deleterious(0.02) probably_damaging(0.989) - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G start_lost HIGH PTEN ENSG00000171862 Transcript ENST00000700021.1 protein_coding 1/8 - - - 677 2 1 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 - - - - - Ensembl - T T - deleterious(0) benign(0.045) - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G start_lost,NMD_transcript_variant HIGH PTEN ENSG00000171862 Transcript ENST00000700022.1 nonsense_mediated_decay 1/8 - - - 393 2 1 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 - - - - - Ensembl - T T - deleterious_low_confidence(0) possibly_damaging(0.697) - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G start_lost HIGH PTEN ENSG00000171862 Transcript ENST00000700029.2 protein_coding 1/10 - - - 847 2 1 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 - - - - - Ensembl - T T - - - - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G start_lost,NMD_transcript_variant HIGH PTEN ENSG00000171862 Transcript ENST00000706955.1 nonsense_mediated_decay 1/11 - - - 847 2 1 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 - - - - - Ensembl - T T - deleterious_low_confidence(0) benign(0.095) - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G start_lost,NMD_transcript_variant HIGH PTEN ENSG00000171862 Transcript ENST00000710265.1 nonsense_mediated_decay 1/10 - - - 847 2 1 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - HGNC HGNC:9588 - - - - - Ensembl - T T - - - - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G start_lost HIGH PTEN 5728 Transcript NM_000314.8 protein_coding 1/9 - - - 847 2 1 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - EntrezGene HGNC:9588 ENST00000371953.8 - - - - RefSeq - T T - deleterious(0) probably_damaging(0.92) - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G upstream_gene_variant MODIFIER KLLN 100144748 Transcript NM_001126049.2 protein_coding - - - - - - - - - COSV105289760,COSV64290003,COSV64299893 938 -1 - EntrezGene HGNC:37212 ENST00000445946.5 - - - - RefSeq - T T - - - - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G missense_variant MODERATE PTEN 5728 Transcript NM_001304717.5 protein_coding 2/10 - - - 846 521 174 M/R aTg/aGg COSV105289760,COSV64290003,COSV64299893 - 1 - EntrezGene HGNC:9588 - - - - - RefSeq - T T FAILED deleterious(0.02) probably_damaging(0.989) - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G 5_prime_UTR_variant MODIFIER PTEN 5728 Transcript NM_001304718.2 protein_coding 1/9 - - - 846 - - - - COSV105289760,COSV64290003,COSV64299893 - 1 - EntrezGene HGNC:9588 - - - - - RefSeq - T T OK - - - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000031121 promoter - - - - - - - - - COSV105289760,COSV64290003,COSV64299893 - - - - - - - - - - - - - - - - - - - 1,1,1 1,1,1 - - - - - - . 10:87864471-87864471 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00525578083 - - - - - - - - - - COSV105289760,COSV64290003,COSV64299893 - 1 - - - - - - - - - - - - - - - - - 1,1,1 1,1,1 - ENSPFM0379 2 Y -0.054 MEIS2,MEIS3,TGIF2,TGIF2LX,PKNOX1,PKNOX2,TGIF1 . 10:87960992-87960992 T synonymous_variant LOW PTEN ENSG00000171862 Transcript ENST00000371953.8 protein_coding 8/9 - - - 1745 900 300 I atC/atT rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 NM_000314.8 - 1 P1 - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T synonymous_variant LOW PTEN ENSG00000171862 Transcript ENST00000472832.3 protein_coding 8/8 - - - 1041 900 300 I atC/atT rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - 2 - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000686459.1 nonsense_mediated_decay 9/10 - - - 1201 - - - - rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T non_coding_transcript_exon_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000688158.2 protein_coding_CDS_not_defined 10/11 - - - 1635 - - - - rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T synonymous_variant LOW PTEN ENSG00000171862 Transcript ENST00000688308.1 protein_coding 9/10 - - - 1392 900 300 I atC/atT rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - P1 - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000688922.2 nonsense_mediated_decay 9/10 - - - 1093 - - - - rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T synonymous_variant LOW PTEN ENSG00000171862 Transcript ENST00000693560.1 protein_coding 9/10 - - - 1931 1419 473 I atC/atT rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T synonymous_variant LOW PTEN ENSG00000171862 Transcript ENST00000700021.1 protein_coding 7/8 - - - 1530 855 285 I atC/atT rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000700022.1 nonsense_mediated_decay 7/8 - - - 1149 - - - - rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T non_coding_transcript_exon_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000700023.1 retained_intron 4/5 - - - 2058 - - - - rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T non_coding_transcript_exon_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000700024.1 retained_intron 3/4 - - - 2292 - - - - rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T non_coding_transcript_exon_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000700025.1 retained_intron 3/3 - - - 1669 - - - - rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T non_coding_transcript_exon_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000700026.1 retained_intron 2/2 - - - 537 - - - - rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T synonymous_variant LOW PTEN ENSG00000171862 Transcript ENST00000700029.2 protein_coding 9/10 - - - 1838 993 331 I atC/atT rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000706955.1 nonsense_mediated_decay 10/11 - - - 1915 - - - - rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T synonymous_variant,NMD_transcript_variant LOW PTEN ENSG00000171862 Transcript ENST00000710265.1 nonsense_mediated_decay 8/10 - - - 1745 900 300 I atC/atT rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - HGNC HGNC:9588 - - - - - Ensembl - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T synonymous_variant LOW PTEN 5728 Transcript NM_000314.8 protein_coding 8/9 - - - 1745 900 300 I atC/atT rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - EntrezGene HGNC:9588 ENST00000371953.8 - - - - RefSeq - C C - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T synonymous_variant LOW PTEN 5728 Transcript NM_001304717.5 protein_coding 9/10 - - - 1744 1419 473 I atC/atT rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - EntrezGene HGNC:9588 - - - - - RefSeq - C C FAILED - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T synonymous_variant LOW PTEN 5728 Transcript NM_001304718.2 protein_coding 8/9 - - - 1858 309 103 I atC/atT rs550122918,CD115955,COSV64288931,COSV64289107 - 1 - EntrezGene HGNC:9588 - - - - - RefSeq - C C OK - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87960992-87960992 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000411055 enhancer - - - - - - - - - rs550122918,CD115955,COSV64288931,COSV64289107 - - - - - - - - - - - - - - - - - 0.0002 likely_benign 0,0,1,1 1,1,1,1 - - - - - - . 10:87961034-87961034 G synonymous_variant LOW PTEN ENSG00000171862 Transcript ENST00000371953.8 protein_coding 8/9 - - - 1787 942 314 E gaA/gaG rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 NM_000314.8 - 1 P1 - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G synonymous_variant LOW PTEN ENSG00000171862 Transcript ENST00000472832.3 protein_coding 8/8 - - - 1083 942 314 E gaA/gaG rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - 2 - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000686459.1 nonsense_mediated_decay 9/10 - - - 1243 - - - - rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G non_coding_transcript_exon_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000688158.2 protein_coding_CDS_not_defined 10/11 - - - 1677 - - - - rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G synonymous_variant LOW PTEN ENSG00000171862 Transcript ENST00000688308.1 protein_coding 9/10 - - - 1434 942 314 E gaA/gaG rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - P1 - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000688922.2 nonsense_mediated_decay 9/10 - - - 1135 - - - - rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G synonymous_variant LOW PTEN ENSG00000171862 Transcript ENST00000693560.1 protein_coding 9/10 - - - 1973 1461 487 E gaA/gaG rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G synonymous_variant LOW PTEN ENSG00000171862 Transcript ENST00000700021.1 protein_coding 7/8 - - - 1572 897 299 E gaA/gaG rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000700022.1 nonsense_mediated_decay 7/8 - - - 1191 - - - - rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G non_coding_transcript_exon_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000700023.1 retained_intron 4/5 - - - 2100 - - - - rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G non_coding_transcript_exon_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000700024.1 retained_intron 3/4 - - - 2334 - - - - rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G non_coding_transcript_exon_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000700025.1 retained_intron 3/3 - - - 1711 - - - - rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G non_coding_transcript_exon_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000700026.1 retained_intron 2/2 - - - 579 - - - - rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G synonymous_variant LOW PTEN ENSG00000171862 Transcript ENST00000700029.2 protein_coding 9/10 - - - 1880 1035 345 E gaA/gaG rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PTEN ENSG00000171862 Transcript ENST00000706955.1 nonsense_mediated_decay 10/11 - - - 1957 - - - - rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G synonymous_variant,NMD_transcript_variant LOW PTEN ENSG00000171862 Transcript ENST00000710265.1 nonsense_mediated_decay 8/10 - - - 1787 942 314 E gaA/gaG rs1589666037,COSV100910054,COSV64290700 - 1 - HGNC HGNC:9588 - - - - - Ensembl - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G synonymous_variant LOW PTEN 5728 Transcript NM_000314.8 protein_coding 8/9 - - - 1787 942 314 E gaA/gaG rs1589666037,COSV100910054,COSV64290700 - 1 - EntrezGene HGNC:9588 ENST00000371953.8 - - - - RefSeq - A A - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G synonymous_variant LOW PTEN 5728 Transcript NM_001304717.5 protein_coding 9/10 - - - 1786 1461 487 E gaA/gaG rs1589666037,COSV100910054,COSV64290700 - 1 - EntrezGene HGNC:9588 - - - - - RefSeq - A A FAILED - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G synonymous_variant LOW PTEN 5728 Transcript NM_001304718.2 protein_coding 8/9 - - - 1900 351 117 E gaA/gaG rs1589666037,COSV100910054,COSV64290700 - 1 - EntrezGene HGNC:9588 - - - - - RefSeq - A A OK - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:87961034-87961034 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000411055 enhancer - - - - - - - - - rs1589666037,COSV100910054,COSV64290700 - - - - - - - - - - - - - - - - - - likely_benign 0,1,1 1,1,1 - - - - - - . 10:88596841-88596841 G missense_variant MODERATE LIPJ ENSG00000204022 Transcript ENST00000371939.7 protein_coding 8/11 - - - 942 628 210 I/V Att/Gtt rs1409136 - 1 - HGNC HGNC:21773 NM_001010939.3 - 1 P1 - Ensembl - A A - tolerated(0.45) benign(0.009) 0.8926 - - - - - - - - - . 10:88596841-88596841 G downstream_gene_variant MODIFIER LIPJ ENSG00000204022 Transcript ENST00000526923.1 retained_intron - - - - - - - - - rs1409136 2529 1 - HGNC HGNC:21773 - - 1 - - Ensembl - A A - - - 0.8926 - - - - - - - - - . 10:88596841-88596841 G intron_variant MODIFIER LIPJ ENSG00000204022 Transcript ENST00000531458.1 protein_coding - 2/4 - - - - - - - rs1409136 - 1 cds_start_NF,cds_end_NF HGNC HGNC:21773 - - 3 - - Ensembl - A A - - - 0.8926 - - - - - - - - - . 10:88596841-88596841 G missense_variant MODERATE LIPJ 142910 Transcript NM_001010939.3 protein_coding 8/11 - - - 942 628 210 I/V Att/Gtt rs1409136 - 1 - EntrezGene HGNC:21773 ENST00000371939.7 - - - - RefSeq - A A - tolerated(0.45) benign(0.009) 0.8926 - - - - - - - - - . 10:88596841-88596841 G intron_variant MODIFIER LIPJ 142910 Transcript NM_001394640.1 protein_coding - 7/9 - - - - - - - rs1409136 - 1 - EntrezGene HGNC:21773 - - - - - RefSeq - A A - - - 0.8926 - - - - - - - - - . 10:88596841-88596841 G non_coding_transcript_exon_variant MODIFIER LIPJ 142910 Transcript NR_172141.1 misc_RNA 8/11 - - - 2014 - - - - rs1409136 - 1 - EntrezGene HGNC:21773 - - - - - RefSeq - A A - - - 0.8926 - - - - - - - - - . 10:88596841-88596841 G missense_variant MODERATE LIPJ 142910 Transcript XM_005269542.3 protein_coding 4/7 - - - 387 289 97 I/V Att/Gtt rs1409136 - 1 - EntrezGene HGNC:21773 - - - - - RefSeq - A A - - - 0.8926 - - - - - - - - - . 10:88596841-88596841 G missense_variant MODERATE LIPJ 142910 Transcript XM_006717635.4 protein_coding 8/11 - - - 1960 628 210 I/V Att/Gtt rs1409136 - 1 - EntrezGene HGNC:21773 - - - - - RefSeq - A A - tolerated(0.45) benign(0.009) 0.8926 - - - - - - - - - . 10:88596841-88596841 G missense_variant MODERATE LIPJ 142910 Transcript XM_011539315.2 protein_coding 8/11 - - - 941 628 210 I/V Att/Gtt rs1409136 - 1 - EntrezGene HGNC:21773 - - - - - RefSeq - A A - tolerated(0.45) benign(0.009) 0.8926 - - - - - - - - - . 10:88596841-88596841 G missense_variant MODERATE LIPJ 142910 Transcript XM_011539318.2 protein_coding 3/6 - - - 592 205 69 I/V Att/Gtt rs1409136 - 1 - EntrezGene HGNC:21773 - - - - - RefSeq - A A - - - 0.8926 - - - - - - - - - . 10:88596841-88596841 G missense_variant MODERATE LIPJ 142910 Transcript XM_011539319.1 protein_coding 4/7 - - - 441 82 28 I/V Att/Gtt rs1409136 - 1 - EntrezGene HGNC:21773 - - - - - RefSeq - A A - - - 0.8926 - - - - - - - - - . 10:88596841-88596841 G missense_variant MODERATE LIPJ 142910 Transcript XM_047424642.1 protein_coding 8/12 - - - 942 628 210 I/V Att/Gtt rs1409136 - 1 - EntrezGene HGNC:21773 - - - - - RefSeq - A A - - - 0.8926 - - - - - - - - - . 10:88596841-88596841 G missense_variant MODERATE LIPJ 142910 Transcript XM_047424643.1 protein_coding 8/11 - - - 942 628 210 I/V Att/Gtt rs1409136 - 1 - EntrezGene HGNC:21773 - - - - - RefSeq - A A - - - 0.8926 - - - - - - - - - . 10:88669895-88669895 G missense_variant MODERATE LIPF ENSG00000182333 Transcript ENST00000238983.9 protein_coding 5/10 - - - 542 481 161 T/A Act/Gct rs814628,COSV53284201 - 1 - HGNC HGNC:6622 NM_004190.4 - 1 P1 - Ensembl - A A - deleterious(0.01) probably_damaging(0.959) 0.1679 - 0,1 0,1 18254975,16700901,30407633,16385451,33521546 - - - - - . 10:88669895-88669895 G missense_variant MODERATE LIPF ENSG00000182333 Transcript ENST00000355843.2 protein_coding 6/11 - - - 508 412 138 T/A Act/Gct rs814628,COSV53284201 - 1 - HGNC HGNC:6622 - - 1 - - Ensembl - A A - deleterious(0.01) probably_damaging(0.956) 0.1679 - 0,1 0,1 18254975,16700901,30407633,16385451,33521546 - - - - - . 10:88669895-88669895 G missense_variant MODERATE LIPF ENSG00000182333 Transcript ENST00000394375.7 protein_coding 6/11 - - - 624 511 171 T/A Act/Gct rs814628,COSV53284201 - 1 - HGNC HGNC:6622 - - 2 - - Ensembl - A A - deleterious(0.01) probably_damaging(0.931) 0.1679 - 0,1 0,1 18254975,16700901,30407633,16385451,33521546 - - - - - . 10:88669895-88669895 G missense_variant MODERATE LIPF ENSG00000182333 Transcript ENST00000608620.5 protein_coding 5/10 - - - 444 382 128 T/A Act/Gct rs814628,COSV53284201 - 1 - HGNC HGNC:6622 - - 2 - - Ensembl - A A - deleterious(0.01) possibly_damaging(0.9) 0.1679 - 0,1 0,1 18254975,16700901,30407633,16385451,33521546 - - - - - . 10:88669895-88669895 G downstream_gene_variant MODIFIER LIPF ENSG00000182333 Transcript ENST00000609378.1 retained_intron - - - - - - - - - rs814628,COSV53284201 357 1 - HGNC HGNC:6622 - - 1 - - Ensembl - A A - - - 0.1679 - 0,1 0,1 18254975,16700901,30407633,16385451,33521546 - - - - - . 10:88669895-88669895 G missense_variant MODERATE LIPF 8513 Transcript NM_001198828.2 protein_coding 5/10 - - - 443 382 128 T/A Act/Gct rs814628,COSV53284201 - 1 - EntrezGene HGNC:6622 - - - - - RefSeq - A A - deleterious(0.01) possibly_damaging(0.9) 0.1679 - 0,1 0,1 18254975,16700901,30407633,16385451,33521546 - - - - - . 10:88669895-88669895 G missense_variant MODERATE LIPF 8513 Transcript NM_001198829.2 protein_coding 6/11 - - - 623 511 171 T/A Act/Gct rs814628,COSV53284201 - 1 - EntrezGene HGNC:6622 - - - - - RefSeq - A A - deleterious(0.01) probably_damaging(0.931) 0.1679 - 0,1 0,1 18254975,16700901,30407633,16385451,33521546 - - - - - . 10:88669895-88669895 G missense_variant MODERATE LIPF 8513 Transcript NM_001198830.2 protein_coding 6/11 - - - 524 412 138 T/A Act/Gct rs814628,COSV53284201 - 1 - EntrezGene HGNC:6622 - - - - - RefSeq - A A - deleterious(0.01) probably_damaging(0.956) 0.1679 - 0,1 0,1 18254975,16700901,30407633,16385451,33521546 - - - - - . 10:88669895-88669895 G missense_variant MODERATE LIPF 8513 Transcript NM_004190.4 protein_coding 5/10 - - - 542 481 161 T/A Act/Gct rs814628,COSV53284201 - 1 - EntrezGene HGNC:6622 ENST00000238983.9 - - - - RefSeq - A A - deleterious(0.01) probably_damaging(0.959) 0.1679 - 0,1 0,1 18254975,16700901,30407633,16385451,33521546 - - - - - . 10:88669895-88669895 G missense_variant MODERATE LIPF 8513 Transcript XM_011540311.2 protein_coding 5/10 - - - 538 481 161 T/A Act/Gct rs814628,COSV53284201 - 1 - EntrezGene HGNC:6622 - - - - - RefSeq - A A - deleterious(0.01) probably_damaging(0.959) 0.1679 - 0,1 0,1 18254975,16700901,30407633,16385451,33521546 - - - - - . 10:88678450-88678450 G synonymous_variant LOW LIPF ENSG00000182333 Transcript ENST00000238983.9 protein_coding 10/10 - - - 1027 966 322 Q caA/caG rs1228187,COSV53282603 - 1 - HGNC HGNC:6622 NM_004190.4 - 1 P1 - Ensembl - A A - - - 0.2284 - 0,1 0,1 16385451 - - - - - . 10:88678450-88678450 G synonymous_variant LOW LIPF ENSG00000182333 Transcript ENST00000355843.2 protein_coding 11/11 - - - 993 897 299 Q caA/caG rs1228187,COSV53282603 - 1 - HGNC HGNC:6622 - - 1 - - Ensembl - A A - - - 0.2284 - 0,1 0,1 16385451 - - - - - . 10:88678450-88678450 G synonymous_variant LOW LIPF ENSG00000182333 Transcript ENST00000394375.7 protein_coding 11/11 - - - 1109 996 332 Q caA/caG rs1228187,COSV53282603 - 1 - HGNC HGNC:6622 - - 2 - - Ensembl - A A - - - 0.2284 - 0,1 0,1 16385451 - - - - - . 10:88678450-88678450 G non_coding_transcript_exon_variant MODIFIER LIPF ENSG00000182333 Transcript ENST00000496797.1 retained_intron 3/3 - - - 243 - - - - rs1228187,COSV53282603 - 1 - HGNC HGNC:6622 - - 2 - - Ensembl - A A - - - 0.2284 - 0,1 0,1 16385451 - - - - - . 10:88678450-88678450 G synonymous_variant LOW LIPF ENSG00000182333 Transcript ENST00000608620.5 protein_coding 10/10 - - - 929 867 289 Q caA/caG rs1228187,COSV53282603 - 1 - HGNC HGNC:6622 - - 2 - - Ensembl - A A - - - 0.2284 - 0,1 0,1 16385451 - - - - - . 10:88678450-88678450 G synonymous_variant LOW LIPF 8513 Transcript NM_001198828.2 protein_coding 10/10 - - - 928 867 289 Q caA/caG rs1228187,COSV53282603 - 1 - EntrezGene HGNC:6622 - - - - - RefSeq - A A - - - 0.2284 - 0,1 0,1 16385451 - - - - - . 10:88678450-88678450 G synonymous_variant LOW LIPF 8513 Transcript NM_001198829.2 protein_coding 11/11 - - - 1108 996 332 Q caA/caG rs1228187,COSV53282603 - 1 - EntrezGene HGNC:6622 - - - - - RefSeq - A A - - - 0.2284 - 0,1 0,1 16385451 - - - - - . 10:88678450-88678450 G synonymous_variant LOW LIPF 8513 Transcript NM_001198830.2 protein_coding 11/11 - - - 1009 897 299 Q caA/caG rs1228187,COSV53282603 - 1 - EntrezGene HGNC:6622 - - - - - RefSeq - A A - - - 0.2284 - 0,1 0,1 16385451 - - - - - . 10:88678450-88678450 G synonymous_variant LOW LIPF 8513 Transcript NM_004190.4 protein_coding 10/10 - - - 1027 966 322 Q caA/caG rs1228187,COSV53282603 - 1 - EntrezGene HGNC:6622 ENST00000238983.9 - - - - RefSeq - A A - - - 0.2284 - 0,1 0,1 16385451 - - - - - . 10:88678450-88678450 G synonymous_variant LOW LIPF 8513 Transcript XM_011540311.2 protein_coding 10/10 - - - 1023 966 322 Q caA/caG rs1228187,COSV53282603 - 1 - EntrezGene HGNC:6622 - - - - - RefSeq - A A - - - 0.2284 - 0,1 0,1 16385451 - - - - - . 10:88724663-88724663 A intron_variant MODIFIER LIPK ENSG00000204021 Transcript ENST00000404190.3 protein_coding - 2/9 - - - - - - - rs56390975 - 1 - HGNC HGNC:23444 NM_001080518.2 - 1 P1 - Ensembl - C C - - - 0.8740 - - - - - - - - - . 10:88724663-88724663 A upstream_gene_variant MODIFIER KRT8P38 ENSG00000226358 Transcript ENST00000441370.1 processed_pseudogene - - - - - - - - - rs56390975 2822 1 - HGNC HGNC:39872 - - - - - Ensembl - C C - - - 0.8740 - - - - - - - - - . 10:88724663-88724663 A intron_variant MODIFIER LIPK 643414 Transcript NM_001080518.2 protein_coding - 2/9 - - - - - - - rs56390975 - 1 - EntrezGene HGNC:23444 ENST00000404190.3 - - - - RefSeq - C C - - - 0.8740 - - - - - - - - - . 10:88724663-88724663 A intron_variant MODIFIER LIPK 643414 Transcript NM_001378091.1 protein_coding - 3/10 - - - - - - - rs56390975 - 1 - EntrezGene HGNC:23444 - - - - - RefSeq - C C - - - 0.8740 - - - - - - - - - . 10:88724663-88724663 A intron_variant MODIFIER LIPK 643414 Transcript XM_011540073.4 protein_coding - 2/9 - - - - - - - rs56390975 - 1 - EntrezGene HGNC:23444 - - - - - RefSeq - C C - - - 0.8740 - - - - - - - - - . 10:88724663-88724663 A intron_variant MODIFIER LIPK 643414 Transcript XM_011540075.2 protein_coding - 3/10 - - - - - - - rs56390975 - 1 - EntrezGene HGNC:23444 - - - - - RefSeq - C C - - - 0.8740 - - - - - - - - - . 10:88724663-88724663 A intron_variant MODIFIER LIPK 643414 Transcript XM_017016545.2 protein_coding - 2/8 - - - - - - - rs56390975 - 1 - EntrezGene HGNC:23444 - - - - - RefSeq - C C - - - 0.8740 - - - - - - - - - . 10:88724663-88724663 A intron_variant MODIFIER LIPK 643414 Transcript XM_017016546.3 protein_coding - 2/9 - - - - - - - rs56390975 - 1 - EntrezGene HGNC:23444 - - - - - RefSeq - C C - - - 0.8740 - - - - - - - - - . 10:88724663-88724663 A intron_variant MODIFIER LIPK 643414 Transcript XM_017016547.3 protein_coding - 2/8 - - - - - - - rs56390975 - 1 - EntrezGene HGNC:23444 - - - - - RefSeq - C C - - - 0.8740 - - - - - - - - - . 10:88724663-88724663 A intron_variant MODIFIER LIPK 643414 Transcript XM_017016548.3 protein_coding - 2/8 - - - - - - - rs56390975 - 1 - EntrezGene HGNC:23444 - - - - - RefSeq - C C - - - 0.8740 - - - - - - - - - . 10:88724663-88724663 A intron_variant,non_coding_transcript_variant MODIFIER LIPK 643414 Transcript XR_001747183.3 misc_RNA - 2/10 - - - - - - - rs56390975 - 1 - EntrezGene HGNC:23444 - - - - - RefSeq - C C - - - 0.8740 - - - - - - - - - . 10:88724663-88724663 A intron_variant,non_coding_transcript_variant MODIFIER LIPK 643414 Transcript XR_001747184.3 misc_RNA - 2/7 - - - - - - - rs56390975 - 1 - EntrezGene HGNC:23444 - - - - - RefSeq - C C - - - 0.8740 - - - - - - - - - . 10:88828516-88828516 T intron_variant MODIFIER ANKRD22 ENSG00000152766 Transcript ENST00000371930.5 protein_coding - 3/5 - - - - - - - rs3814692,COSV64237193 - -1 - HGNC HGNC:28321 NM_144590.3 - 1 P1 - Ensembl - C C - - - 0.0264 - 0,1 0,1 - - - - - - . 10:88828516-88828516 T intron_variant MODIFIER ANKRD22 118932 Transcript NM_144590.3 protein_coding - 3/5 - - - - - - - rs3814692,COSV64237193 - -1 - EntrezGene HGNC:28321 ENST00000371930.5 - - - - RefSeq - C C - - - 0.0264 - 0,1 0,1 - - - - - - . 10:88828516-88828516 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000947871 enhancer - - - - - - - - - rs3814692,COSV64237193 - - - - - - - - - - - - - - - - - 0.0264 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T non_coding_transcript_exon_variant MODIFIER STAMBPL1 ENSG00000138134 Transcript ENST00000371922.1 retained_intron 4/6 - - - 1375 - - - - rs34083181,COSV100904935 - 1 - HGNC HGNC:24105 - - 2 - - Ensembl - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 ENSG00000138134 Transcript ENST00000371924.5 protein_coding 8/10 - - - 1684 1050 350 P ccC/ccT rs34083181,COSV100904935 - 1 - HGNC HGNC:24105 - - 1 P1 - Ensembl - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 ENSG00000138134 Transcript ENST00000371926.8 protein_coding 9/11 - - - 1497 1050 350 P ccC/ccT rs34083181,COSV100904935 - 1 - HGNC HGNC:24105 NM_020799.4 - 1 P1 - Ensembl - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 ENSG00000138134 Transcript ENST00000371927.7 protein_coding 9/11 - - - 2008 1050 350 P ccC/ccT rs34083181,COSV100904935 - 1 - HGNC HGNC:24105 - - 2 - - Ensembl - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 57559 Transcript NM_020799.4 protein_coding 9/11 - - - 1497 1050 350 P ccC/ccT rs34083181,COSV100904935 - 1 - EntrezGene HGNC:24105 ENST00000371926.8 - - - - RefSeq - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 57559 Transcript XM_006717930.4 protein_coding 9/11 - - - 1738 1050 350 P ccC/ccT rs34083181,COSV100904935 - 1 - EntrezGene HGNC:24105 - - - - - RefSeq - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 57559 Transcript XM_011539983.2 protein_coding 10/12 - - - 1658 1050 350 P ccC/ccT rs34083181,COSV100904935 - 1 - EntrezGene HGNC:24105 - - - - - RefSeq - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 57559 Transcript XM_011539985.3 protein_coding 10/12 - - - 3156 1050 350 P ccC/ccT rs34083181,COSV100904935 - 1 - EntrezGene HGNC:24105 - - - - - RefSeq - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 57559 Transcript XM_017016456.2 protein_coding 10/12 - - - 1571 1050 350 P ccC/ccT rs34083181,COSV100904935 - 1 - EntrezGene HGNC:24105 - - - - - RefSeq - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 57559 Transcript XM_017016457.3 protein_coding 8/10 - - - 1359 912 304 P ccC/ccT rs34083181,COSV100904935 - 1 - EntrezGene HGNC:24105 - - - - - RefSeq - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 57559 Transcript XM_017016458.2 protein_coding 7/9 - - - 1081 732 244 P ccC/ccT rs34083181,COSV100904935 - 1 - EntrezGene HGNC:24105 - - - - - RefSeq - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 57559 Transcript XM_047425551.1 protein_coding 11/13 - - - 3634 1050 350 P ccC/ccT rs34083181,COSV100904935 - 1 - EntrezGene HGNC:24105 - - - - - RefSeq - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 57559 Transcript XM_047425552.1 protein_coding 11/13 - - - 1753 1050 350 P ccC/ccT rs34083181,COSV100904935 - 1 - EntrezGene HGNC:24105 - - - - - RefSeq - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 57559 Transcript XM_047425553.1 protein_coding 11/13 - - - 2136 1050 350 P ccC/ccT rs34083181,COSV100904935 - 1 - EntrezGene HGNC:24105 - - - - - RefSeq - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 57559 Transcript XM_047425554.1 protein_coding 12/14 - - - 2007 1050 350 P ccC/ccT rs34083181,COSV100904935 - 1 - EntrezGene HGNC:24105 - - - - - RefSeq - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T synonymous_variant LOW STAMBPL1 57559 Transcript XM_047425555.1 protein_coding 9/11 - - - 1520 912 304 P ccC/ccT rs34083181,COSV100904935 - 1 - EntrezGene HGNC:24105 - - - - - RefSeq - C C - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88921291-88921291 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001180463 enhancer - - - - - - - - - rs34083181,COSV100904935 - - - - - - - - - - - - - - - - - 0.0266 - 0,1 0,1 - - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000313771.10 protein_coding_CDS_not_defined - - - - - - - - - rs2234767,CR973384 1789 1 - HGNC HGNC:11920 - - 1 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000355279.2 protein_coding - - - - - - - - - rs2234767,CR973384 1378 1 - HGNC HGNC:11920 - - 1 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000355740.8 protein_coding - - - - - - - - - rs2234767,CR973384 1328 1 - HGNC HGNC:11920 - - 1 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000357339.7 protein_coding - - - - - - - - - rs2234767,CR973384 1060 1 - HGNC HGNC:11920 - - 1 A2 - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000371857.8 retained_intron - - - - - - - - - rs2234767,CR973384 1888 1 - HGNC HGNC:11920 - - 2 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A intron_variant MODIFIER ACTA2 ENSG00000107796 Transcript ENST00000415557.2 protein_coding - 1/8 - - - - - - - rs2234767,CR973384 - -1 - HGNC HGNC:130 - - 3 P1 - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A intron_variant MODIFIER ACTA2 ENSG00000107796 Transcript ENST00000458159.6 protein_coding - 1/8 - - - - - - - rs2234767,CR973384 - -1 - HGNC HGNC:130 - - 3 P1 - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000460510.6 protein_coding - - - - - - - - - rs2234767,CR973384 1456 1 - HGNC HGNC:11920 - - 3 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000466081.6 retained_intron - - - - - - - - - rs2234767,CR973384 1929 1 - HGNC HGNC:11920 - - 3 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000477270.6 protein_coding - - - - - - - - - rs2234767,CR973384 1515 1 - HGNC HGNC:11920 - - 5 A2 - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000479522.6 nonsense_mediated_decay - - - - - - - - - rs2234767,CR973384 1232 1 - HGNC HGNC:11920 - - 1 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000484444.6 nonsense_mediated_decay - - - - - - - - - rs2234767,CR973384 1353 1 - HGNC HGNC:11920 - - 1 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000487314.1 protein_coding_CDS_not_defined - - - - - - - - - rs2234767,CR973384 1949 1 - HGNC HGNC:11920 - - 5 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000488877.6 nonsense_mediated_decay - - - - - - - - - rs2234767,CR973384 1378 1 - HGNC HGNC:11920 - - 1 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000492756.7 nonsense_mediated_decay - - - - - - - - - rs2234767,CR973384 1196 1 - HGNC HGNC:11920 - - 1 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000494410.5 protein_coding - - - - - - - - - rs2234767,CR973384 1353 1 - HGNC HGNC:11920 - - 1 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000494799.6 protein_coding - - - - - - - - - rs2234767,CR973384 1932 1 - HGNC HGNC:11920 - - 3 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000562983.3 protein_coding - - - - - - - - - rs2234767,CR973384 1286 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000612663.6 nonsense_mediated_decay - - - - - - - - - rs2234767,CR973384 1083 1 - HGNC HGNC:11920 - - 5 - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER - ENSG00000275693 Transcript ENST00000620386.1 misc_RNA - - - - - - - - - rs2234767,CR973384 2871 1 - - - - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A downstream_gene_variant MODIFIER - ENSG00000286116 Transcript ENST00000651408.1 lncRNA - - - - - - - - - rs2234767,CR973384 546 -1 - - - - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000652046.1 protein_coding - - - - - - - - - rs2234767,CR973384 1299 1 - HGNC HGNC:11920 NM_000043.6 - - P4 - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000688239.1 protein_coding_CDS_not_defined 3/4 - - - 291 - - - - rs2234767,CR973384 - 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A missense_variant MODERATE FAS ENSG00000026103 Transcript ENST00000690268.1 protein_coding 3/11 - - - 271 31 11 A/T Gcc/Acc rs2234767,CR973384 - 1 - HGNC HGNC:11920 - - - A2 - Ensembl - G G - deleterious_low_confidence(0) - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696723.1 protein_coding_CDS_not_defined 2/10 - - - 3583 - - - - rs2234767,CR973384 - 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696741.1 retained_intron - - - - - - - - - rs2234767,CR973384 1075 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696742.1 retained_intron - - - - - - - - - rs2234767,CR973384 1196 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696743.1 retained_intron - - - - - - - - - rs2234767,CR973384 1206 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696744.1 protein_coding_CDS_not_defined - - - - - - - - - rs2234767,CR973384 1769 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696767.1 retained_intron - - - - - - - - - rs2234767,CR973384 1196 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696768.1 protein_coding - - - - - - - - - rs2234767,CR973384 1306 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696769.1 retained_intron - - - - - - - - - rs2234767,CR973384 1454 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696770.1 retained_intron - - - - - - - - - rs2234767,CR973384 1915 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696771.1 protein_coding - - - - - - - - - rs2234767,CR973384 1929 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696772.1 retained_intron - - - - - - - - - rs2234767,CR973384 1932 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696773.1 retained_intron - - - - - - - - - rs2234767,CR973384 1939 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696774.1 retained_intron - - - - - - - - - rs2234767,CR973384 1156 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696775.1 retained_intron - - - - - - - - - rs2234767,CR973384 1196 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696776.1 protein_coding - - - - - - - - - rs2234767,CR973384 1196 1 - HGNC HGNC:11920 - - - A2 - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696777.1 retained_intron - - - - - - - - - rs2234767,CR973384 1196 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696778.1 retained_intron - - - - - - - - - rs2234767,CR973384 1196 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696779.1 protein_coding - - - - - - - - - rs2234767,CR973384 1196 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696780.1 protein_coding - - - - - - - - - rs2234767,CR973384 1197 1 - HGNC HGNC:11920 - - - A2 - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696781.1 protein_coding - - - - - - - - - rs2234767,CR973384 1299 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696782.1 nonsense_mediated_decay - - - - - - - - - rs2234767,CR973384 1305 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696992.1 protein_coding_CDS_not_defined 2/10 - - - 1067 - - - - rs2234767,CR973384 - 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696993.1 protein_coding_CDS_not_defined - - - - - - - - - rs2234767,CR973384 1196 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696994.1 retained_intron - - - - - - - - - rs2234767,CR973384 1196 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696995.1 retained_intron - - - - - - - - - rs2234767,CR973384 1196 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696996.1 retained_intron - - - - - - - - - rs2234767,CR973384 1197 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696997.1 nonsense_mediated_decay - - - - - - - - - rs2234767,CR973384 1248 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696998.1 retained_intron - - - - - - - - - rs2234767,CR973384 1932 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696999.1 protein_coding - - - - - - - - - rs2234767,CR973384 1939 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697035.1 protein_coding - - - - - - - - - rs2234767,CR973384 1196 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697036.1 nonsense_mediated_decay - - - - - - - - - rs2234767,CR973384 1304 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697037.1 protein_coding_CDS_not_defined - - - - - - - - - rs2234767,CR973384 1789 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697093.1 retained_intron - - - - - - - - - rs2234767,CR973384 1154 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697094.1 retained_intron - - - - - - - - - rs2234767,CR973384 1239 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697095.1 nonsense_mediated_decay - - - - - - - - - rs2234767,CR973384 1276 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697096.1 retained_intron - - - - - - - - - rs2234767,CR973384 1322 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697097.1 protein_coding - - - - - - - - - rs2234767,CR973384 1517 1 - HGNC HGNC:11920 - - - - - Ensembl - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript NM_000043.6 protein_coding - - - - - - - - - rs2234767,CR973384 1299 1 - EntrezGene HGNC:11920 ENST00000652046.1 - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A intron_variant MODIFIER ACTA2 59 Transcript NM_001141945.2 protein_coding - 1/8 - - - - - - - rs2234767,CR973384 - -1 - EntrezGene HGNC:130 - - - - - RefSeq - G G OK - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript NM_001320619.2 protein_coding - - - - - - - - - rs2234767,CR973384 1299 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A intron_variant MODIFIER ACTA2 59 Transcript NM_001320855.1 protein_coding - 1/8 - - - - - - - rs2234767,CR973384 - -1 - EntrezGene HGNC:130 - - - - - RefSeq - G G OK - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript NM_152871.4 protein_coding - - - - - - - - - rs2234767,CR973384 1299 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript NM_152872.4 protein_coding - - - - - - - - - rs2234767,CR973384 1299 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript NR_028033.4 misc_RNA - - - - - - - - - rs2234767,CR973384 1299 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript NR_028034.4 misc_RNA - - - - - - - - - rs2234767,CR973384 1299 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript NR_028035.4 misc_RNA - - - - - - - - - rs2234767,CR973384 1299 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript NR_028036.4 misc_RNA - - - - - - - - - rs2234767,CR973384 1299 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A downstream_gene_variant MODIFIER FAS-AS1 100302740 Transcript NR_028371.1 lncRNA - - - - - - - - - rs2234767,CR973384 1923 -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript NR_135313.2 misc_RNA - - - - - - - - - rs2234767,CR973384 1299 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript NR_135314.2 misc_RNA - - - - - - - - - rs2234767,CR973384 1932 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript NR_135315.2 misc_RNA - - - - - - - - - rs2234767,CR973384 1932 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A missense_variant MODERATE FAS 355 Transcript XM_006717819.4 protein_coding 2/10 - - - 9329 31 11 A/T Gcc/Acc rs2234767,CR973384 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - deleterious_low_confidence(0) - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A missense_variant MODERATE FAS 355 Transcript XM_011539764.3 protein_coding 2/10 - - - 2948 112 38 A/T Gcc/Acc rs2234767,CR973384 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A missense_variant MODERATE FAS 355 Transcript XM_011539765.3 protein_coding 2/9 - - - 127 112 38 A/T Gcc/Acc rs2234767,CR973384 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A missense_variant MODERATE FAS 355 Transcript XM_011539766.3 protein_coding 2/10 - - - 79 31 11 A/T Gcc/Acc rs2234767,CR973384 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - deleterious_low_confidence(0) - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript XM_011539767.4 protein_coding - - - - - - - - - rs2234767,CR973384 1550 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A upstream_gene_variant MODIFIER FAS 355 Transcript XM_047425178.1 protein_coding - - - - - - - - - rs2234767,CR973384 1632 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A missense_variant MODERATE FAS 355 Transcript XM_047425179.1 protein_coding 2/7 - - - 127 112 38 A/T Gcc/Acc rs2234767,CR973384 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A missense_variant MODERATE FAS 355 Transcript XM_047425180.1 protein_coding 2/6 - - - 127 112 38 A/T Gcc/Acc rs2234767,CR973384 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - G G - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:88989499-88989499 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000031278 promoter - - - - - - - - - rs2234767,CR973384 - - - - - - - - - - - - - - - - - 0.1841 risk_factor - 1,1 28652652,21926110,30793520,31428123,31516756,21085187,21160888,15937082,18757527,18805939,19240174,19941645,20106900,20219325,20385987,20438363,20959405,21864388,23141929,23185509,23392773,23720679,23749041,24248546,24424626,24587306,25976983,26602921,26759270,26788026,26819081,26858129,26905515,27009330,27524883,27603042,27790710,28850937,28971183,29611722,29734947,30937706,31425784,23406059,22347493,29250672,30392849,19669200,19766542,21036138,23065220,22084312,24568648,27940354,28617356,29535370,30383736,23326385,27103831,30498395,26893830,29072392,23865866,28107433,28085094,23181125,22282500,26587033,24347794,22740964,24014103,24598538,29419701,29177066,26823859,24348139,31804351,17014925,20445773,18361934,22386066,16271851,26910909,21940365,26064279,31425593,34071181,25932173,34078296,29068570,33819921,32351390,32782727,33403042,32209020,23991993,34366198,35637613,34758846,35395775,35846355,36350953 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000313771.10 protein_coding_CDS_not_defined 7/9 - - - 951 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 1 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS ENSG00000026103 Transcript ENST00000355279.2 protein_coding 7/8 - - - 642 642 214 T acT/acC rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 1 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C intron_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000355740.8 protein_coding - 6/7 - - - - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 1 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS ENSG00000026103 Transcript ENST00000357339.7 protein_coding 6/8 - - - 897 579 193 T acT/acC rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 1 A2 - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000371857.8 retained_intron 5/7 - - - 2187 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 2 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 5_prime_UTR_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000460510.6 protein_coding 7/9 - - - 1014 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 3 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000466081.6 retained_intron 4/6 - - - 2037 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 3 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS ENSG00000026103 Transcript ENST00000477270.6 protein_coding 7/9 - - - 811 687 229 T acT/acC rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 5 A2 - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000479522.6 nonsense_mediated_decay 4/6 - - - 478 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 1 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000484444.6 nonsense_mediated_decay 5/7 - - - 420 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 1 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000487314.1 protein_coding_CDS_not_defined 7/8 - - - 791 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 5 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000488877.6 nonsense_mediated_decay 6/8 - - - 533 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 1 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000492756.7 nonsense_mediated_decay 5/7 - - - 652 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 1 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C intron_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000494410.5 protein_coding - 5/6 - - - - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 1 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 5_prime_UTR_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000494799.6 protein_coding 5/7 - - - 561 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 3 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 5_prime_UTR_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000562983.3 protein_coding 8/10 - - - 841 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant,NMD_transcript_variant LOW FAS ENSG00000026103 Transcript ENST00000612663.6 nonsense_mediated_decay 7/10 - - - 937 642 214 T acT/acC rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 5 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000640140.2 protein_coding_CDS_not_defined 7/9 - - - 787 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 5 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C upstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000640250.2 protein_coding_CDS_not_defined - - - - - - - - - rs2234978,CM045201 610 1 - HGNC HGNC:11920 - - 5 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000640681.2 protein_coding_CDS_not_defined 7/9 - - - 746 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - 5 - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS ENSG00000026103 Transcript ENST00000652046.1 protein_coding 7/9 - - - 721 642 214 T acT/acC rs2234978,CM045201 - 1 - HGNC HGNC:11920 NM_000043.6 - - P4 - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS ENSG00000026103 Transcript ENST00000690268.1 protein_coding 9/11 - - - 963 723 241 T acT/acC rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - A2 - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696723.1 protein_coding_CDS_not_defined 8/10 - - - 4275 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696741.1 retained_intron 5/7 - - - 2280 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696742.1 retained_intron 6/8 - - - 2007 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696743.1 retained_intron 5/6 - - - 2149 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696744.1 protein_coding_CDS_not_defined 7/9 - - - 681 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696767.1 retained_intron 6/8 - - - 976 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C intron_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696768.1 protein_coding - 5/6 - - - - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696769.1 retained_intron 5/7 - - - 2331 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696770.1 retained_intron 3/3 - - - 4752 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 5_prime_UTR_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696771.1 protein_coding 6/8 - - - 748 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696772.1 retained_intron 6/8 - - - 1991 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696773.1 retained_intron 6/8 - - - 1984 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696774.1 retained_intron 4/4 - - - 3740 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C downstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696775.1 retained_intron - - - - - - - - - rs2234978,CM045201 2705 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS ENSG00000026103 Transcript ENST00000696776.1 protein_coding 8/10 - - - 917 735 245 T acT/acC rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - A2 - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696777.1 retained_intron 4/6 - - - 2050 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696778.1 retained_intron 7/9 - - - 824 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C intron_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696779.1 protein_coding - 3/4 - - - - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS ENSG00000026103 Transcript ENST00000696780.1 protein_coding 7/9 - - - 853 672 224 T acT/acC rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - A2 - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C intron_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696781.1 protein_coding - 4/5 - - - - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant,NMD_transcript_variant LOW FAS ENSG00000026103 Transcript ENST00000696782.1 nonsense_mediated_decay 6/9 - - - 652 579 193 T acT/acC rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696783.1 retained_intron 1/3 - - - 2510 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696992.1 protein_coding_CDS_not_defined 8/10 - - - 1759 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C downstream_gene_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696994.1 retained_intron - - - - - - - - - rs2234978,CM045201 4077 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696995.1 retained_intron 5/5 - - - 2159 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696996.1 retained_intron 7/8 - - - 823 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696997.1 nonsense_mediated_decay 8/10 - - - 921 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696998.1 retained_intron 3/5 - - - 1896 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 5_prime_UTR_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000696999.1 protein_coding 5/7 - - - 629 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS ENSG00000026103 Transcript ENST00000697035.1 protein_coding 7/9 - - - 824 642 214 T acT/acC rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697036.1 nonsense_mediated_decay 6/7 - - - 607 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697037.1 protein_coding_CDS_not_defined 7/9 - - - 677 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697093.1 retained_intron 7/7 - - - 866 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697094.1 retained_intron 6/7 - - - 1964 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697095.1 nonsense_mediated_decay 6/8 - - - 2278 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697096.1 retained_intron 6/8 - - - 1775 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 5_prime_UTR_variant MODIFIER FAS ENSG00000026103 Transcript ENST00000697097.1 protein_coding 8/10 - - - 916 - - - - rs2234978,CM045201 - 1 - HGNC HGNC:11920 - - - - - Ensembl - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS 355 Transcript NM_000043.6 protein_coding 7/9 - - - 721 642 214 T acT/acC rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 ENST00000652046.1 - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C intron_variant MODIFIER FAS 355 Transcript NM_001320619.2 protein_coding - 6/7 - - - - - - - rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS 355 Transcript NM_152871.4 protein_coding 6/8 - - - 658 579 193 T acT/acC rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS 355 Transcript NM_152872.4 protein_coding 7/8 - - - 721 642 214 T acT/acC rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS 355 Transcript NR_028033.4 misc_RNA 5/7 - - - 549 - - - - rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS 355 Transcript NR_028034.4 misc_RNA 4/6 - - - 411 - - - - rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS 355 Transcript NR_028035.4 misc_RNA 5/7 - - - 474 - - - - rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS 355 Transcript NR_028036.4 misc_RNA 6/8 - - - 612 - - - - rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C intron_variant,non_coding_transcript_variant MODIFIER FAS 355 Transcript NR_135313.2 misc_RNA - 5/6 - - - - - - - rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS 355 Transcript NR_135314.2 misc_RNA 7/9 - - - 808 - - - - rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C non_coding_transcript_exon_variant MODIFIER FAS 355 Transcript NR_135315.2 misc_RNA 5/7 - - - 561 - - - - rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS 355 Transcript XM_006717819.4 protein_coding 8/10 - - - 10021 723 241 T acT/acC rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS 355 Transcript XM_011539764.3 protein_coding 8/10 - - - 3640 804 268 T acT/acC rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS 355 Transcript XM_011539765.3 protein_coding 7/9 - - - 756 741 247 T acT/acC rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS 355 Transcript XM_011539766.3 protein_coding 8/10 - - - 771 723 241 T acT/acC rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS 355 Transcript XM_011539767.4 protein_coding 7/9 - - - 776 687 229 T acT/acC rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C synonymous_variant LOW FAS 355 Transcript XM_047425178.1 protein_coding 6/8 - - - 631 624 208 T acT/acC rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 3_prime_UTR_variant MODIFIER FAS 355 Transcript XM_047425179.1 protein_coding 7/7 - - - 710 - - - - rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89012072-89012072 C 3_prime_UTR_variant MODIFIER FAS 355 Transcript XM_047425180.1 protein_coding 6/6 - - - 647 - - - - rs2234978,CM045201 - 1 - EntrezGene HGNC:11920 - - - - - RefSeq - T T - - - 0.7754 benign - 1,1 25741868,27417569,24033266,22295056,27834829,20959405,27009330,21858107,22347493,23378343,20813889,19669200,25103824,21625619,31228212,21436341,20694011,29657992,22983578,31804351,16271851,26690594,34566427,33507988 - - - - - . 10:89225030-89225030 G downstream_gene_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000282673.5 protein_coding - - - - - - - - - rs2297473 79 -1 cds_end_NF HGNC HGNC:6617 - - 3 - - Ensembl - T T - - - 0.4557 benign - 1 - - - - - - . 10:89225030-89225030 G intron_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000336233.10 protein_coding - 6/9 - - - - - - - rs2297473 - -1 - HGNC HGNC:6617 NM_000235.4 - 1 P1 - Ensembl - T T - - - 0.4557 benign - 1 - - - - - - . 10:89225030-89225030 G intron_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000371837.5 protein_coding - 5/8 - - - - - - - rs2297473 - -1 - HGNC HGNC:6617 - - 2 - - Ensembl - T T - - - 0.4557 benign - 1 - - - - - - . 10:89225030-89225030 G intron_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000428800.5 protein_coding - 5/6 - - - - - - - rs2297473 - -1 cds_end_NF HGNC HGNC:6617 - - 1 - - Ensembl - T T - - - 0.4557 benign - 1 - - - - - - . 10:89225030-89225030 G intron_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000456827.5 protein_coding - 4/7 - - - - - - - rs2297473 - -1 - HGNC HGNC:6617 - - 3 - - Ensembl - T T - - - 0.4557 benign - 1 - - - - - - . 10:89225030-89225030 G intron_variant MODIFIER LIPA 3988 Transcript NM_000235.4 protein_coding - 6/9 - - - - - - - rs2297473 - -1 - EntrezGene HGNC:6617 ENST00000336233.10 - - - - RefSeq - T T - - - 0.4557 benign - 1 - - - - - - . 10:89225030-89225030 G intron_variant MODIFIER LIPA 3988 Transcript NM_001127605.3 protein_coding - 6/9 - - - - - - - rs2297473 - -1 - EntrezGene HGNC:6617 - - - - - RefSeq - T T - - - 0.4557 benign - 1 - - - - - - . 10:89225030-89225030 G intron_variant MODIFIER LIPA 3988 Transcript NM_001288979.2 protein_coding - 4/7 - - - - - - - rs2297473 - -1 - EntrezGene HGNC:6617 - - - - - RefSeq - T T - - - 0.4557 benign - 1 - - - - - - . 10:89225030-89225030 G intron_variant MODIFIER LIPA 3988 Transcript XM_024448023.2 protein_coding - 6/9 - - - - - - - rs2297473 - -1 - EntrezGene HGNC:6617 - - - - - RefSeq - T T - - - 0.4557 benign - 1 - - - - - - . 10:89225030-89225030 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000411343 CTCF_binding_site - - - - - - - - - rs2297473 - - - - - - - - - - - - - - - - - 0.4557 benign - 1 - - - - - - . 10:89225030-89225030 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000947920 promoter - - - - - - - - - rs2297473 - - - - - - - - - - - - - - - - - 0.4557 benign - 1 - - - - - - . 10:89225233-89225233 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW LIPA ENSG00000107798 Transcript ENST00000282673.5 protein_coding - 5/5 - - - - - - - rs2297472,COSV51079077 - -1 cds_end_NF HGNC HGNC:6617 - - 3 - - Ensembl - G G - - - 0.3189 benign 0,1 1,1 25741868,30985853,16730122,25624737,28642624,33407676 - - - - - . 10:89225233-89225233 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW LIPA ENSG00000107798 Transcript ENST00000336233.10 protein_coding - 5/9 - - - - - - - rs2297472,COSV51079077 - -1 - HGNC HGNC:6617 NM_000235.4 - 1 P1 - Ensembl - G G - - - 0.3189 benign 0,1 1,1 25741868,30985853,16730122,25624737,28642624,33407676 - - - - - . 10:89225233-89225233 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW LIPA ENSG00000107798 Transcript ENST00000371837.5 protein_coding - 4/8 - - - - - - - rs2297472,COSV51079077 - -1 - HGNC HGNC:6617 - - 2 - - Ensembl - G G - - - 0.3189 benign 0,1 1,1 25741868,30985853,16730122,25624737,28642624,33407676 - - - - - . 10:89225233-89225233 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW LIPA ENSG00000107798 Transcript ENST00000428800.5 protein_coding - 4/6 - - - - - - - rs2297472,COSV51079077 - -1 cds_end_NF HGNC HGNC:6617 - - 1 - - Ensembl - G G - - - 0.3189 benign 0,1 1,1 25741868,30985853,16730122,25624737,28642624,33407676 - - - - - . 10:89225233-89225233 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW LIPA ENSG00000107798 Transcript ENST00000456827.5 protein_coding - 3/7 - - - - - - - rs2297472,COSV51079077 - -1 - HGNC HGNC:6617 - - 3 - - Ensembl - G G - - - 0.3189 benign 0,1 1,1 25741868,30985853,16730122,25624737,28642624,33407676 - - - - - . 10:89225233-89225233 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW LIPA 3988 Transcript NM_000235.4 protein_coding - 5/9 - - - - - - - rs2297472,COSV51079077 - -1 - EntrezGene HGNC:6617 ENST00000336233.10 - - - - RefSeq - G G - - - 0.3189 benign 0,1 1,1 25741868,30985853,16730122,25624737,28642624,33407676 - - - - - . 10:89225233-89225233 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW LIPA 3988 Transcript NM_001127605.3 protein_coding - 5/9 - - - - - - - rs2297472,COSV51079077 - -1 - EntrezGene HGNC:6617 - - - - - RefSeq - G G - - - 0.3189 benign 0,1 1,1 25741868,30985853,16730122,25624737,28642624,33407676 - - - - - . 10:89225233-89225233 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW LIPA 3988 Transcript NM_001288979.2 protein_coding - 3/7 - - - - - - - rs2297472,COSV51079077 - -1 - EntrezGene HGNC:6617 - - - - - RefSeq - G G - - - 0.3189 benign 0,1 1,1 25741868,30985853,16730122,25624737,28642624,33407676 - - - - - . 10:89225233-89225233 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW LIPA 3988 Transcript XM_024448023.2 protein_coding - 5/9 - - - - - - - rs2297472,COSV51079077 - -1 - EntrezGene HGNC:6617 - - - - - RefSeq - G G - - - 0.3189 benign 0,1 1,1 25741868,30985853,16730122,25624737,28642624,33407676 - - - - - . 10:89225233-89225233 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000411343 CTCF_binding_site - - - - - - - - - rs2297472,COSV51079077 - - - - - - - - - - - - - - - - - 0.3189 benign 0,1 1,1 25741868,30985853,16730122,25624737,28642624,33407676 - - - - - . 10:89225233-89225233 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000947920 promoter - - - - - - - - - rs2297472,COSV51079077 - - - - - - - - - - - - - - - - - 0.3189 benign 0,1 1,1 25741868,30985853,16730122,25624737,28642624,33407676 - - - - - . 10:89306703-89306703 A intron_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000282673.5 protein_coding - 1/5 - - - - - - - rs954439 - -1 cds_end_NF HGNC HGNC:6617 - - 3 - - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A synonymous_variant LOW IFIT2 ENSG00000119922 Transcript ENST00000371826.4 protein_coding 2/2 - - - 825 747 249 V gtT/gtA rs954439 - 1 - HGNC HGNC:5409 NM_001547.5 - 1 P1 - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A intron_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000371837.5 protein_coding - 2/8 - - - - - - - rs954439 - -1 - HGNC HGNC:6617 - - 2 - - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A intron_variant,non_coding_transcript_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000463623.1 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs954439 - -1 - HGNC HGNC:6617 - - 3 - - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A intron_variant,non_coding_transcript_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000487618.5 protein_coding_CDS_not_defined - 2/3 - - - - - - - rs954439 - -1 - HGNC HGNC:6617 - - 1 - - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A intron_variant MODIFIER IFIT2 ENSG00000119922 Transcript ENST00000611722.2 protein_coding - 1/1 - - - - - - - rs954439 - 1 cds_start_NF HGNC HGNC:5409 - - 5 - - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A synonymous_variant LOW IFIT2 ENSG00000119922 Transcript ENST00000638108.1 protein_coding 5/5 - - - 1506 747 249 V gtT/gtA rs954439 - 1 - HGNC HGNC:5409 - - 5 P1 - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A intron_variant,non_coding_transcript_variant MODIFIER IFIT2 ENSG00000119922 Transcript ENST00000679606.1 protein_coding_CDS_not_defined - 1/1 - - - - - - - rs954439 - 1 - HGNC HGNC:5409 - - - - - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A intron_variant,non_coding_transcript_variant MODIFIER IFIT2 ENSG00000119922 Transcript ENST00000679608.1 protein_coding_CDS_not_defined - 1/1 - - - - - - - rs954439 - 1 - HGNC HGNC:5409 - - - - - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A intron_variant MODIFIER IFIT2 ENSG00000119922 Transcript ENST00000679619.1 protein_coding - 1/1 - - - - - - - rs954439 - 1 cds_start_NF HGNC HGNC:5409 - - - - - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A synonymous_variant LOW IFIT2 ENSG00000119922 Transcript ENST00000679734.1 protein_coding 3/3 - - - 1179 675 225 V gtT/gtA rs954439 - 1 - HGNC HGNC:5409 - - - - - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A synonymous_variant LOW IFIT2 ENSG00000119922 Transcript ENST00000679755.1 protein_coding 2/2 - - - 850 675 225 V gtT/gtA rs954439 - 1 - HGNC HGNC:5409 - - - - - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A synonymous_variant LOW IFIT2 ENSG00000119922 Transcript ENST00000680381.1 protein_coding 4/4 - - - 1265 675 225 V gtT/gtA rs954439 - 1 - HGNC HGNC:5409 - - - - - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A synonymous_variant LOW IFIT2 ENSG00000119922 Transcript ENST00000680809.1 protein_coding 3/3 - - - 836 747 249 V gtT/gtA rs954439 - 1 - HGNC HGNC:5409 - - - P1 - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A synonymous_variant LOW IFIT2 ENSG00000119922 Transcript ENST00000680954.1 protein_coding 3/3 - - - 1106 747 249 V gtT/gtA rs954439 - 1 - HGNC HGNC:5409 - - - P1 - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A synonymous_variant,NMD_transcript_variant LOW IFIT2 ENSG00000119922 Transcript ENST00000681843.1 nonsense_mediated_decay 1/2 - - - 742 744 248 V gtT/gtA rs954439 - 1 cds_start_NF HGNC HGNC:5409 - - - - - Ensembl - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A synonymous_variant LOW IFIT2 3433 Transcript NM_001547.5 protein_coding 2/2 - - - 825 747 249 V gtT/gtA rs954439 - 1 - EntrezGene HGNC:5409 ENST00000371826.4 - - - - RefSeq - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89306703-89306703 A upstream_gene_variant MODIFIER LOC105378419 105378419 Transcript XR_001747539.3 lncRNA - - - - - - - - - rs954439 4800 -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.6813 - - - 16385451 - - - - - . 10:89383772-89383772 A synonymous_variant LOW IFIT1B ENSG00000204010 Transcript ENST00000371809.3 protein_coding 2/2 - - - 539 459 153 G ggT/ggA rs304494,COSV65663309 - 1 - HGNC HGNC:23442 NM_001010987.2 - 1 P1 - Ensembl - T T - - - 0.7117 - 0,1 0,1 - - - - - - . 10:89383772-89383772 A intron_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000371837.5 protein_coding - 2/8 - - - - - - - rs304494,COSV65663309 - -1 - HGNC HGNC:6617 - - 2 - - Ensembl - T T - - - 0.7117 - 0,1 0,1 - - - - - - . 10:89383772-89383772 A synonymous_variant LOW IFIT1B 439996 Transcript NM_001010987.2 protein_coding 2/2 - - - 539 459 153 G ggT/ggA rs304494,COSV65663309 - 1 - EntrezGene HGNC:23442 ENST00000371809.3 - - - - RefSeq - T T - - - 0.7117 - 0,1 0,1 - - - - - - . 10:89402425-89402425 T synonymous_variant LOW IFIT1 ENSG00000185745 Transcript ENST00000371804.4 protein_coding 2/2 - - - 240 150 50 Y taC/taT rs41284944,COSV65661099 - 1 - HGNC HGNC:5407 NM_001548.5 - 1 P1 - Ensembl - C C - - - 0.0791 - 0,1 0,1 31055733 - - - - - . 10:89402425-89402425 T intron_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000371837.5 protein_coding - 2/8 - - - - - - - rs41284944,COSV65661099 - -1 - HGNC HGNC:6617 - - 2 - - Ensembl - C C - - - 0.0791 - 0,1 0,1 31055733 - - - - - . 10:89402425-89402425 T synonymous_variant LOW IFIT1 ENSG00000185745 Transcript ENST00000546318.2 protein_coding 3/3 - - - 552 57 19 Y taC/taT rs41284944,COSV65661099 - 1 - HGNC HGNC:5407 - - 3 - - Ensembl - C C - - - 0.0791 - 0,1 0,1 31055733 - - - - - . 10:89402425-89402425 T synonymous_variant LOW IFIT1 3434 Transcript NM_001270927.2 protein_coding 3/3 - - - 337 150 50 Y taC/taT rs41284944,COSV65661099 - 1 - EntrezGene HGNC:5407 - - - - - RefSeq - C C - - - 0.0791 - 0,1 0,1 31055733 - - - - - . 10:89402425-89402425 T synonymous_variant LOW IFIT1 3434 Transcript NM_001270928.2 protein_coding 3/3 - - - 354 57 19 Y taC/taT rs41284944,COSV65661099 - 1 - EntrezGene HGNC:5407 - - - - - RefSeq - C C - - - 0.0791 - 0,1 0,1 31055733 - - - - - . 10:89402425-89402425 T synonymous_variant LOW IFIT1 3434 Transcript NM_001270929.2 protein_coding 3/3 - - - 349 57 19 Y taC/taT rs41284944,COSV65661099 - 1 - EntrezGene HGNC:5407 - - - - - RefSeq - C C - - - 0.0791 - 0,1 0,1 31055733 - - - - - . 10:89402425-89402425 T synonymous_variant LOW IFIT1 3434 Transcript NM_001270930.2 protein_coding 3/3 - - - 475 57 19 Y taC/taT rs41284944,COSV65661099 - 1 - EntrezGene HGNC:5407 - - - - - RefSeq - C C - - - 0.0791 - 0,1 0,1 31055733 - - - - - . 10:89402425-89402425 T synonymous_variant LOW IFIT1 3434 Transcript NM_001548.5 protein_coding 2/2 - - - 240 150 50 Y taC/taT rs41284944,COSV65661099 - 1 - EntrezGene HGNC:5407 ENST00000371804.4 - - - - RefSeq - C C - - - 0.0791 - 0,1 0,1 31055733 - - - - - . 10:89402425-89402425 T downstream_gene_variant MODIFIER LOC107984251 107984251 Transcript XR_001747541.2 lncRNA - - - - - - - - - rs41284944,COSV65661099 2904 -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.0791 - 0,1 0,1 31055733 - - - - - . 10:89402740-89402740 G synonymous_variant LOW IFIT1 ENSG00000185745 Transcript ENST00000371804.4 protein_coding 2/2 - - - 555 465 155 K aaA/aaG rs303211,COSV65661485 - 1 - HGNC HGNC:5407 NM_001548.5 - 1 P1 - Ensembl - A A - - - 0.9766 - 0,1 0,1 20411041 - - - - - . 10:89402740-89402740 G intron_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000371837.5 protein_coding - 2/8 - - - - - - - rs303211,COSV65661485 - -1 - HGNC HGNC:6617 - - 2 - - Ensembl - A A - - - 0.9766 - 0,1 0,1 20411041 - - - - - . 10:89402740-89402740 G synonymous_variant LOW IFIT1 ENSG00000185745 Transcript ENST00000546318.2 protein_coding 3/3 - - - 867 372 124 K aaA/aaG rs303211,COSV65661485 - 1 - HGNC HGNC:5407 - - 3 - - Ensembl - A A - - - 0.9766 - 0,1 0,1 20411041 - - - - - . 10:89402740-89402740 G synonymous_variant LOW IFIT1 3434 Transcript NM_001270927.2 protein_coding 3/3 - - - 652 465 155 K aaA/aaG rs303211,COSV65661485 - 1 - EntrezGene HGNC:5407 - - - - - RefSeq - A A - - - 0.9766 - 0,1 0,1 20411041 - - - - - . 10:89402740-89402740 G synonymous_variant LOW IFIT1 3434 Transcript NM_001270928.2 protein_coding 3/3 - - - 669 372 124 K aaA/aaG rs303211,COSV65661485 - 1 - EntrezGene HGNC:5407 - - - - - RefSeq - A A - - - 0.9766 - 0,1 0,1 20411041 - - - - - . 10:89402740-89402740 G synonymous_variant LOW IFIT1 3434 Transcript NM_001270929.2 protein_coding 3/3 - - - 664 372 124 K aaA/aaG rs303211,COSV65661485 - 1 - EntrezGene HGNC:5407 - - - - - RefSeq - A A - - - 0.9766 - 0,1 0,1 20411041 - - - - - . 10:89402740-89402740 G synonymous_variant LOW IFIT1 3434 Transcript NM_001270930.2 protein_coding 3/3 - - - 790 372 124 K aaA/aaG rs303211,COSV65661485 - 1 - EntrezGene HGNC:5407 - - - - - RefSeq - A A - - - 0.9766 - 0,1 0,1 20411041 - - - - - . 10:89402740-89402740 G synonymous_variant LOW IFIT1 3434 Transcript NM_001548.5 protein_coding 2/2 - - - 555 465 155 K aaA/aaG rs303211,COSV65661485 - 1 - EntrezGene HGNC:5407 ENST00000371804.4 - - - - RefSeq - A A - - - 0.9766 - 0,1 0,1 20411041 - - - - - . 10:89402740-89402740 G downstream_gene_variant MODIFIER LOC107984251 107984251 Transcript XR_001747541.2 lncRNA - - - - - - - - - rs303211,COSV65661485 2589 -1 - EntrezGene - - - - - - RefSeq - A A - - - 0.9766 - 0,1 0,1 20411041 - - - - - . 10:89418243-89418243 T synonymous_variant LOW IFIT5 ENSG00000152778 Transcript ENST00000371795.5 protein_coding 2/2 - - - 1275 1044 348 Y taC/taT rs304448,COSV65655346 - 1 - HGNC HGNC:13328 NM_012420.3 - 1 P1 - Ensembl - C C - - - 0.6508 - 0,1 0,1 - - - - - - . 10:89418243-89418243 T upstream_gene_variant MODIFIER LIPA ENSG00000107798 Transcript ENST00000371837.5 protein_coding - - - - - - - - - rs304448,COSV65655346 3686 -1 - HGNC HGNC:6617 - - 2 - - Ensembl - C C - - - 0.6508 - 0,1 0,1 - - - - - - . 10:89418243-89418243 T 3_prime_UTR_variant MODIFIER IFIT5 ENSG00000152778 Transcript ENST00000679632.1 protein_coding 2/2 - - - 527 - - - - rs304448,COSV65655346 - 1 cds_start_NF HGNC HGNC:13328 - - - - - Ensembl - C C - - - 0.6508 - 0,1 0,1 - - - - - - . 10:89418243-89418243 T downstream_gene_variant MODIFIER IFIT5 ENSG00000152778 Transcript ENST00000680591.1 protein_coding - - - - - - - - - rs304448,COSV65655346 730 1 cds_end_NF HGNC HGNC:13328 - - - - - Ensembl - C C - - - 0.6508 - 0,1 0,1 - - - - - - . 10:89418243-89418243 T intron_variant MODIFIER IFIT5 ENSG00000152778 Transcript ENST00000681163.1 protein_coding - 2/2 - - - - - - - rs304448,COSV65655346 - 1 - HGNC HGNC:13328 - - - - - Ensembl - C C - - - 0.6508 - 0,1 0,1 - - - - - - . 10:89418243-89418243 T upstream_gene_variant MODIFIER IFIT5 ENSG00000152778 Transcript ENST00000681270.1 protein_coding_CDS_not_defined - - - - - - - - - rs304448,COSV65655346 3014 1 - HGNC HGNC:13328 - - - - - Ensembl - C C - - - 0.6508 - 0,1 0,1 - - - - - - . 10:89418243-89418243 T synonymous_variant LOW IFIT5 ENSG00000152778 Transcript ENST00000681348.1 protein_coding 3/3 - - - 937 900 300 Y taC/taT rs304448,COSV65655346 - 1 - HGNC HGNC:13328 - - - - - Ensembl - C C - - - 0.6508 - 0,1 0,1 - - - - - - . 10:89418243-89418243 T downstream_gene_variant MODIFIER IFIT5 ENSG00000152778 Transcript ENST00000681359.1 protein_coding_CDS_not_defined - - - - - - - - - rs304448,COSV65655346 3330 1 - HGNC HGNC:13328 - - - - - Ensembl - C C - - - 0.6508 - 0,1 0,1 - - - - - - . 10:89418243-89418243 T synonymous_variant LOW IFIT5 ENSG00000152778 Transcript ENST00000681422.1 protein_coding 2/2 - - - 1292 726 242 Y taC/taT rs304448,COSV65655346 - 1 - HGNC HGNC:13328 - - - - - Ensembl - C C - - - 0.6508 - 0,1 0,1 - - - - - - . 10:89418243-89418243 T synonymous_variant LOW IFIT5 24138 Transcript NM_012420.3 protein_coding 2/2 - - - 1275 1044 348 Y taC/taT rs304448,COSV65655346 - 1 - EntrezGene HGNC:13328 ENST00000371795.5 - - - - RefSeq - C C - - - 0.6508 - 0,1 0,1 - - - - - - . 10:89418243-89418243 T intron_variant,non_coding_transcript_variant MODIFIER LOC107984251 107984251 Transcript XR_001747541.2 lncRNA - 1/2 - - - - - - - rs304448,COSV65655346 - -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.6508 - 0,1 0,1 - - - - - - . 10:89724151-89724151 C intron_variant MODIFIER KIF20B ENSG00000138182 Transcript ENST00000260753.8 protein_coding - 14/32 - - - - - - - rs7079174 - 1 - HGNC HGNC:7212 - - 1 P4 - Ensembl - G G - - - 0.8498 - - - - - - - - - . 10:89724151-89724151 C intron_variant MODIFIER KIF20B ENSG00000138182 Transcript ENST00000371728.8 protein_coding - 14/32 - - - - - - - rs7079174 - 1 - HGNC HGNC:7212 NM_001284259.2 - 1 A2 - Ensembl - G G - - - 0.8498 - - - - - - - - - . 10:89724151-89724151 C intron_variant,non_coding_transcript_variant MODIFIER KIF20B ENSG00000138182 Transcript ENST00000478929.1 protein_coding_CDS_not_defined - 1/19 - - - - - - - rs7079174 - 1 - HGNC HGNC:7212 - - 1 - - Ensembl - G G - - - 0.8498 - - - - - - - - - . 10:89724151-89724151 C intron_variant MODIFIER KIF20B 9585 Transcript NM_001284259.2 protein_coding - 14/32 - - - - - - - rs7079174 - 1 - EntrezGene HGNC:7212 ENST00000371728.8 - - - - RefSeq - G G - - - 0.8498 - - - - - - - - - . 10:89724151-89724151 C intron_variant MODIFIER KIF20B 9585 Transcript NM_001382506.1 protein_coding - 13/31 - - - - - - - rs7079174 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - G G - - - 0.8498 - - - - - - - - - . 10:89724151-89724151 C intron_variant MODIFIER KIF20B 9585 Transcript NM_016195.4 protein_coding - 14/32 - - - - - - - rs7079174 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - G G - - - 0.8498 - - - - - - - - - . 10:89724151-89724151 C intron_variant,non_coding_transcript_variant MODIFIER KIF20B 9585 Transcript NR_168374.1 misc_RNA - 13/31 - - - - - - - rs7079174 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - G G - - - 0.8498 - - - - - - - - - . 10:89724151-89724151 C intron_variant,non_coding_transcript_variant MODIFIER KIF20B 9585 Transcript NR_168375.1 misc_RNA - 12/30 - - - - - - - rs7079174 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - G G - - - 0.8498 - - - - - - - - - . 10:89725023-89725023 A synonymous_variant LOW KIF20B ENSG00000138182 Transcript ENST00000260753.8 protein_coding 15/33 - - - 1938 1866 622 E gaG/gaA rs8181361,COSV53304338 - 1 - HGNC HGNC:7212 - - 1 P4 - Ensembl - G G - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89725023-89725023 A synonymous_variant LOW KIF20B ENSG00000138182 Transcript ENST00000371728.8 protein_coding 15/33 - - - 1958 1866 622 E gaG/gaA rs8181361,COSV53304338 - 1 - HGNC HGNC:7212 NM_001284259.2 - 1 A2 - Ensembl - G G - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89725023-89725023 A non_coding_transcript_exon_variant MODIFIER KIF20B ENSG00000138182 Transcript ENST00000478929.1 protein_coding_CDS_not_defined 2/20 - - - 532 - - - - rs8181361,COSV53304338 - 1 - HGNC HGNC:7212 - - 1 - - Ensembl - G G - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89725023-89725023 A synonymous_variant LOW KIF20B 9585 Transcript NM_001284259.2 protein_coding 15/33 - - - 1958 1866 622 E gaG/gaA rs8181361,COSV53304338 - 1 - EntrezGene HGNC:7212 ENST00000371728.8 - - - - RefSeq - G G - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89725023-89725023 A synonymous_variant LOW KIF20B 9585 Transcript NM_001382506.1 protein_coding 14/32 - - - 1745 1653 551 E gaG/gaA rs8181361,COSV53304338 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - G G - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89725023-89725023 A synonymous_variant LOW KIF20B 9585 Transcript NM_016195.4 protein_coding 15/33 - - - 1958 1866 622 E gaG/gaA rs8181361,COSV53304338 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - G G - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89725023-89725023 A non_coding_transcript_exon_variant MODIFIER KIF20B 9585 Transcript NR_168374.1 misc_RNA 14/32 - - - 1795 - - - - rs8181361,COSV53304338 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - G G - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89725023-89725023 A non_coding_transcript_exon_variant MODIFIER KIF20B 9585 Transcript NR_168375.1 misc_RNA 13/31 - - - 1507 - - - - rs8181361,COSV53304338 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - G G - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89737874-89737874 A missense_variant MODERATE KIF20B ENSG00000138182 Transcript ENST00000260753.8 protein_coding 20/33 - - - 2985 2913 971 D/E gaT/gaA rs1062465,COSV53304353 - 1 - HGNC HGNC:7212 - - 1 P4 - Ensembl - T T - tolerated(0.06) benign(0.114) 0.3538 - 0,1 0,1 16385451 - - - - - . 10:89737874-89737874 A missense_variant MODERATE KIF20B ENSG00000138182 Transcript ENST00000371728.8 protein_coding 20/33 - - - 3125 3033 1011 D/E gaT/gaA rs1062465,COSV53304353 - 1 - HGNC HGNC:7212 NM_001284259.2 - 1 A2 - Ensembl - T T - tolerated(0.05) benign(0.111) 0.3538 - 0,1 0,1 16385451 - - - - - . 10:89737874-89737874 A non_coding_transcript_exon_variant MODIFIER KIF20B ENSG00000138182 Transcript ENST00000478929.1 protein_coding_CDS_not_defined 7/20 - - - 1579 - - - - rs1062465,COSV53304353 - 1 - HGNC HGNC:7212 - - 1 - - Ensembl - T T - - - 0.3538 - 0,1 0,1 16385451 - - - - - . 10:89737874-89737874 A missense_variant MODERATE KIF20B 9585 Transcript NM_001284259.2 protein_coding 20/33 - - - 3125 3033 1011 D/E gaT/gaA rs1062465,COSV53304353 - 1 - EntrezGene HGNC:7212 ENST00000371728.8 - - - - RefSeq - T T - tolerated(0.05) benign(0.111) 0.3538 - 0,1 0,1 16385451 - - - - - . 10:89737874-89737874 A missense_variant MODERATE KIF20B 9585 Transcript NM_001382506.1 protein_coding 19/32 - - - 2912 2820 940 D/E gaT/gaA rs1062465,COSV53304353 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - T T - tolerated(0.05) benign(0.034) 0.3538 - 0,1 0,1 16385451 - - - - - . 10:89737874-89737874 A missense_variant MODERATE KIF20B 9585 Transcript NM_016195.4 protein_coding 20/33 - - - 3005 2913 971 D/E gaT/gaA rs1062465,COSV53304353 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - T T - tolerated(0.06) benign(0.114) 0.3538 - 0,1 0,1 16385451 - - - - - . 10:89737874-89737874 A non_coding_transcript_exon_variant MODIFIER KIF20B 9585 Transcript NR_168374.1 misc_RNA 19/32 - - - 2842 - - - - rs1062465,COSV53304353 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - T T - - - 0.3538 - 0,1 0,1 16385451 - - - - - . 10:89737874-89737874 A non_coding_transcript_exon_variant MODIFIER KIF20B 9585 Transcript NR_168375.1 misc_RNA 18/31 - - - 2554 - - - - rs1062465,COSV53304353 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - T T - - - 0.3538 - 0,1 0,1 16385451 - - - - - . 10:89738370-89738370 C missense_variant MODERATE KIF20B ENSG00000138182 Transcript ENST00000260753.8 protein_coding 20/33 - - - 3481 3409 1137 C/R Tgt/Cgt rs1886996,COSV53308149 - 1 - HGNC HGNC:7212 - - 1 P4 - Ensembl - T T - tolerated(0.35) benign(0) 0.8574 - 0,1 0,1 27029813,16385451 - - - - - . 10:89738370-89738370 C missense_variant MODERATE KIF20B ENSG00000138182 Transcript ENST00000371728.8 protein_coding 20/33 - - - 3621 3529 1177 C/R Tgt/Cgt rs1886996,COSV53308149 - 1 - HGNC HGNC:7212 NM_001284259.2 - 1 A2 - Ensembl - T T - tolerated(0.36) benign(0) 0.8574 - 0,1 0,1 27029813,16385451 - - - - - . 10:89738370-89738370 C non_coding_transcript_exon_variant MODIFIER KIF20B ENSG00000138182 Transcript ENST00000478929.1 protein_coding_CDS_not_defined 7/20 - - - 2075 - - - - rs1886996,COSV53308149 - 1 - HGNC HGNC:7212 - - 1 - - Ensembl - T T - - - 0.8574 - 0,1 0,1 27029813,16385451 - - - - - . 10:89738370-89738370 C missense_variant MODERATE KIF20B 9585 Transcript NM_001284259.2 protein_coding 20/33 - - - 3621 3529 1177 C/R Tgt/Cgt rs1886996,COSV53308149 - 1 - EntrezGene HGNC:7212 ENST00000371728.8 - - - - RefSeq - T T - tolerated(0.36) benign(0) 0.8574 - 0,1 0,1 27029813,16385451 - - - - - . 10:89738370-89738370 C missense_variant MODERATE KIF20B 9585 Transcript NM_001382506.1 protein_coding 19/32 - - - 3408 3316 1106 C/R Tgt/Cgt rs1886996,COSV53308149 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - T T - tolerated(0.32) benign(0.003) 0.8574 - 0,1 0,1 27029813,16385451 - - - - - . 10:89738370-89738370 C missense_variant MODERATE KIF20B 9585 Transcript NM_016195.4 protein_coding 20/33 - - - 3501 3409 1137 C/R Tgt/Cgt rs1886996,COSV53308149 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - T T - tolerated(0.35) benign(0) 0.8574 - 0,1 0,1 27029813,16385451 - - - - - . 10:89738370-89738370 C non_coding_transcript_exon_variant MODIFIER KIF20B 9585 Transcript NR_168374.1 misc_RNA 19/32 - - - 3338 - - - - rs1886996,COSV53308149 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - T T - - - 0.8574 - 0,1 0,1 27029813,16385451 - - - - - . 10:89738370-89738370 C non_coding_transcript_exon_variant MODIFIER KIF20B 9585 Transcript NR_168375.1 misc_RNA 18/31 - - - 3050 - - - - rs1886996,COSV53308149 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - T T - - - 0.8574 - 0,1 0,1 27029813,16385451 - - - - - . 10:89738497-89738497 G missense_variant MODERATE KIF20B ENSG00000138182 Transcript ENST00000260753.8 protein_coding 20/33 - - - 3608 3536 1179 N/S aAt/aGt rs1886997,COSV53304374 - 1 - HGNC HGNC:7212 - - 1 P4 - Ensembl - A A - tolerated(0.81) benign(0) 0.3570 - 0,1 0,1 16385451,31511551 - - - - - . 10:89738497-89738497 G missense_variant MODERATE KIF20B ENSG00000138182 Transcript ENST00000371728.8 protein_coding 20/33 - - - 3748 3656 1219 N/S aAt/aGt rs1886997,COSV53304374 - 1 - HGNC HGNC:7212 NM_001284259.2 - 1 A2 - Ensembl - A A - tolerated(0.84) benign(0) 0.3570 - 0,1 0,1 16385451,31511551 - - - - - . 10:89738497-89738497 G non_coding_transcript_exon_variant MODIFIER KIF20B ENSG00000138182 Transcript ENST00000478929.1 protein_coding_CDS_not_defined 7/20 - - - 2202 - - - - rs1886997,COSV53304374 - 1 - HGNC HGNC:7212 - - 1 - - Ensembl - A A - - - 0.3570 - 0,1 0,1 16385451,31511551 - - - - - . 10:89738497-89738497 G missense_variant MODERATE KIF20B 9585 Transcript NM_001284259.2 protein_coding 20/33 - - - 3748 3656 1219 N/S aAt/aGt rs1886997,COSV53304374 - 1 - EntrezGene HGNC:7212 ENST00000371728.8 - - - - RefSeq - A A - tolerated(0.84) benign(0) 0.3570 - 0,1 0,1 16385451,31511551 - - - - - . 10:89738497-89738497 G missense_variant MODERATE KIF20B 9585 Transcript NM_001382506.1 protein_coding 19/32 - - - 3535 3443 1148 N/S aAt/aGt rs1886997,COSV53304374 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - A A - tolerated(0.86) benign(0.003) 0.3570 - 0,1 0,1 16385451,31511551 - - - - - . 10:89738497-89738497 G missense_variant MODERATE KIF20B 9585 Transcript NM_016195.4 protein_coding 20/33 - - - 3628 3536 1179 N/S aAt/aGt rs1886997,COSV53304374 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - A A - tolerated(0.81) benign(0) 0.3570 - 0,1 0,1 16385451,31511551 - - - - - . 10:89738497-89738497 G non_coding_transcript_exon_variant MODIFIER KIF20B 9585 Transcript NR_168374.1 misc_RNA 19/32 - - - 3465 - - - - rs1886997,COSV53304374 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - A A - - - 0.3570 - 0,1 0,1 16385451,31511551 - - - - - . 10:89738497-89738497 G non_coding_transcript_exon_variant MODIFIER KIF20B 9585 Transcript NR_168375.1 misc_RNA 18/31 - - - 3177 - - - - rs1886997,COSV53304374 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - A A - - - 0.3570 - 0,1 0,1 16385451,31511551 - - - - - . 10:89738561-89738561 G synonymous_variant LOW KIF20B ENSG00000138182 Transcript ENST00000260753.8 protein_coding 20/33 - - - 3672 3600 1200 K aaA/aaG rs1886998,COSV53304387 - 1 - HGNC HGNC:7212 - - 1 P4 - Ensembl - A A - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89738561-89738561 G synonymous_variant LOW KIF20B ENSG00000138182 Transcript ENST00000371728.8 protein_coding 20/33 - - - 3812 3720 1240 K aaA/aaG rs1886998,COSV53304387 - 1 - HGNC HGNC:7212 NM_001284259.2 - 1 A2 - Ensembl - A A - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89738561-89738561 G non_coding_transcript_exon_variant MODIFIER KIF20B ENSG00000138182 Transcript ENST00000478929.1 protein_coding_CDS_not_defined 7/20 - - - 2266 - - - - rs1886998,COSV53304387 - 1 - HGNC HGNC:7212 - - 1 - - Ensembl - A A - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89738561-89738561 G synonymous_variant LOW KIF20B 9585 Transcript NM_001284259.2 protein_coding 20/33 - - - 3812 3720 1240 K aaA/aaG rs1886998,COSV53304387 - 1 - EntrezGene HGNC:7212 ENST00000371728.8 - - - - RefSeq - A A - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89738561-89738561 G synonymous_variant LOW KIF20B 9585 Transcript NM_001382506.1 protein_coding 19/32 - - - 3599 3507 1169 K aaA/aaG rs1886998,COSV53304387 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - A A - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89738561-89738561 G synonymous_variant LOW KIF20B 9585 Transcript NM_016195.4 protein_coding 20/33 - - - 3692 3600 1200 K aaA/aaG rs1886998,COSV53304387 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - A A - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89738561-89738561 G non_coding_transcript_exon_variant MODIFIER KIF20B 9585 Transcript NR_168374.1 misc_RNA 19/32 - - - 3529 - - - - rs1886998,COSV53304387 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - A A - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89738561-89738561 G non_coding_transcript_exon_variant MODIFIER KIF20B 9585 Transcript NR_168375.1 misc_RNA 18/31 - - - 3241 - - - - rs1886998,COSV53304387 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - A A - - - 0.3570 - 0,1 0,1 - - - - - - . 10:89743903-89743903 G synonymous_variant LOW KIF20B ENSG00000138182 Transcript ENST00000260753.8 protein_coding 22/33 - - - 3963 3891 1297 K aaA/aaG rs1126480,COSV53304403 - 1 - HGNC HGNC:7212 - - 1 P4 - Ensembl - A A - - - 0.3538 - 0,1 0,1 - - - - - - . 10:89743903-89743903 G synonymous_variant LOW KIF20B ENSG00000138182 Transcript ENST00000371728.8 protein_coding 22/33 - - - 4103 4011 1337 K aaA/aaG rs1126480,COSV53304403 - 1 - HGNC HGNC:7212 NM_001284259.2 - 1 A2 - Ensembl - A A - - - 0.3538 - 0,1 0,1 - - - - - - . 10:89743903-89743903 G non_coding_transcript_exon_variant MODIFIER KIF20B ENSG00000138182 Transcript ENST00000478929.1 protein_coding_CDS_not_defined 9/20 - - - 2557 - - - - rs1126480,COSV53304403 - 1 - HGNC HGNC:7212 - - 1 - - Ensembl - A A - - - 0.3538 - 0,1 0,1 - - - - - - . 10:89743903-89743903 G synonymous_variant LOW KIF20B 9585 Transcript NM_001284259.2 protein_coding 22/33 - - - 4103 4011 1337 K aaA/aaG rs1126480,COSV53304403 - 1 - EntrezGene HGNC:7212 ENST00000371728.8 - - - - RefSeq - A A - - - 0.3538 - 0,1 0,1 - - - - - - . 10:89743903-89743903 G synonymous_variant LOW KIF20B 9585 Transcript NM_001382506.1 protein_coding 21/32 - - - 3890 3798 1266 K aaA/aaG rs1126480,COSV53304403 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - A A - - - 0.3538 - 0,1 0,1 - - - - - - . 10:89743903-89743903 G synonymous_variant LOW KIF20B 9585 Transcript NM_016195.4 protein_coding 22/33 - - - 3983 3891 1297 K aaA/aaG rs1126480,COSV53304403 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - A A - - - 0.3538 - 0,1 0,1 - - - - - - . 10:89743903-89743903 G non_coding_transcript_exon_variant MODIFIER KIF20B 9585 Transcript NR_168374.1 misc_RNA 21/32 - - - 3820 - - - - rs1126480,COSV53304403 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - A A - - - 0.3538 - 0,1 0,1 - - - - - - . 10:89743903-89743903 G non_coding_transcript_exon_variant MODIFIER KIF20B 9585 Transcript NR_168375.1 misc_RNA 20/31 - - - 3532 - - - - rs1126480,COSV53304403 - 1 - EntrezGene HGNC:7212 - - - - - RefSeq - A A - - - 0.3538 - 0,1 0,1 - - - - - - . 10:91807080-91807080 C intron_variant MODIFIER TNKS2 ENSG00000107854 Transcript ENST00000371627.5 protein_coding - 1/26 - - - - - - - rs1589643101 - 1 - HGNC HGNC:15677 NM_025235.4 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:91807080-91807080 C downstream_gene_variant MODIFIER SRP9P1 ENSG00000180581 Transcript ENST00000445874.1 processed_pseudogene - - - - - - - - - rs1589643101 99 -1 - HGNC HGNC:23402 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:91807080-91807080 C intron_variant MODIFIER TNKS2 ENSG00000107854 Transcript ENST00000710380.1 protein_coding - 1/26 - - - - - - - rs1589643101 - 1 - HGNC HGNC:15677 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:91807080-91807080 C intron_variant MODIFIER TNKS2 80351 Transcript NM_025235.4 protein_coding - 1/26 - - - - - - - rs1589643101 - 1 - EntrezGene HGNC:15677 ENST00000371627.5 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:91807080-91807080 C intron_variant MODIFIER TNKS2 80351 Transcript XM_011540213.2 protein_coding - 1/26 - - - - - - - rs1589643101 - 1 - EntrezGene HGNC:15677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:91807080-91807080 C intron_variant MODIFIER TNKS2 80351 Transcript XM_017016701.2 protein_coding - 1/12 - - - - - - - rs1589643101 - 1 - EntrezGene HGNC:15677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:91807080-91807080 C intron_variant MODIFIER TNKS2 80351 Transcript XM_047425795.1 protein_coding - 1/12 - - - - - - - rs1589643101 - 1 - EntrezGene HGNC:15677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 ENSG00000107864 Transcript ENST00000265997.5 protein_coding - 7/9 - - - - - - - rs1229578,COSV56454684 - -1 - HGNC HGNC:21746 NM_014912.5 - 1 - - Ensembl - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 ENSG00000107864 Transcript ENST00000412050.8 protein_coding - 7/9 - - - - - - - rs1229578,COSV56454684 - -1 - HGNC HGNC:21746 - - 1 P1 - Ensembl - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 ENSG00000107864 Transcript ENST00000614585.4 protein_coding - 7/9 - - - - - - - rs1229578,COSV56454684 - -1 - HGNC HGNC:21746 - - 5 - - Ensembl - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript NM_001178137.2 protein_coding - 7/9 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript NM_014912.5 protein_coding - 7/9 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 ENST00000265997.5 - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_005269630.5 protein_coding - 7/9 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_006717715.4 protein_coding - 8/10 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_011539514.3 protein_coding - 7/9 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_011539515.3 protein_coding - 8/10 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_011539517.3 protein_coding - 6/8 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_011539518.3 protein_coding - 8/10 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_011539519.3 protein_coding - 5/7 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_011539520.3 protein_coding - 5/7 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_017015927.2 protein_coding - 4/6 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_024447893.2 protein_coding - 8/10 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_024447894.2 protein_coding - 8/10 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_024447895.2 protein_coding - 8/10 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_047424807.1 protein_coding - 9/11 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_047424808.1 protein_coding - 7/9 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_047424809.1 protein_coding - 8/10 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_047424810.1 protein_coding - 7/9 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_047424812.1 protein_coding - 9/11 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_047424813.1 protein_coding - 7/9 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_047424814.1 protein_coding - 8/10 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_047424815.1 protein_coding - 7/9 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_047424816.1 protein_coding - 7/9 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C splice_polypyrimidine_tract_variant,intron_variant LOW CPEB3 22849 Transcript XM_047424818.1 protein_coding - 5/7 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424819.1 protein_coding - 8/8 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424820.1 protein_coding - 7/7 - - - - - - - rs1229578,COSV56454684 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92091957-92091957 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001180620 enhancer - - - - - - - - - rs1229578,COSV56454684 - - - - - - - - - - - - - - - - - 0.7554 - 0,1 0,1 - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000265997.5 protein_coding - 6/9 - - - - - - - rs796238810 - -1 - HGNC HGNC:21746 NM_014912.5 - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:92118957-92118957 A non_coding_transcript_exon_variant MODIFIER SDHCP2 ENSG00000214549 Transcript ENST00000398565.2 processed_pseudogene 1/1 - - - 294 - - - - rs796238810 - 1 - HGNC HGNC:45177 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000412050.8 protein_coding - 6/9 - - - - - - - rs796238810 - -1 - HGNC HGNC:21746 - - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000614585.4 protein_coding - 6/9 - - - - - - - rs796238810 - -1 - HGNC HGNC:21746 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript NM_001178137.2 protein_coding - 6/9 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript NM_014912.5 protein_coding - 6/9 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 ENST00000265997.5 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_005269630.5 protein_coding - 6/9 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_006717715.4 protein_coding - 7/10 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_011539514.3 protein_coding - 6/9 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_011539515.3 protein_coding - 7/10 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_011539517.3 protein_coding - 5/8 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_011539518.3 protein_coding - 7/10 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_011539519.3 protein_coding - 4/7 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_011539520.3 protein_coding - 4/7 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_017015927.2 protein_coding - 3/6 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_024447893.2 protein_coding - 7/10 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_024447894.2 protein_coding - 7/10 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_024447895.2 protein_coding - 7/10 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_047424807.1 protein_coding - 8/11 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_047424808.1 protein_coding - 6/9 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_047424809.1 protein_coding - 7/10 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_047424810.1 protein_coding - 6/9 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_047424812.1 protein_coding - 8/11 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_047424813.1 protein_coding - 6/9 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_047424814.1 protein_coding - 7/10 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_047424815.1 protein_coding - 6/9 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_047424816.1 protein_coding - 6/9 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_047424818.1 protein_coding - 4/7 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_047424819.1 protein_coding - 7/8 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A intron_variant MODIFIER CPEB3 22849 Transcript XM_047424820.1 protein_coding - 6/7 - - - - - - - rs796238810 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A downstream_gene_variant MODIFIER LOC107984254 107984254 Transcript XR_001747551.3 lncRNA - - - - - - - - - rs796238810 3429 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118957-92118957 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000411928 enhancer - - - - - - - - - rs796238810 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000265997.5 protein_coding - 6/9 - - - - - - - - - -1 - HGNC HGNC:21746 NM_014912.5 - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:92118960-92118960 T non_coding_transcript_exon_variant MODIFIER SDHCP2 ENSG00000214549 Transcript ENST00000398565.2 processed_pseudogene 1/1 - - - 297 - - - - - - 1 - HGNC HGNC:45177 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000412050.8 protein_coding - 6/9 - - - - - - - - - -1 - HGNC HGNC:21746 - - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000614585.4 protein_coding - 6/9 - - - - - - - - - -1 - HGNC HGNC:21746 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript NM_001178137.2 protein_coding - 6/9 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript NM_014912.5 protein_coding - 6/9 - - - - - - - - - -1 - EntrezGene HGNC:21746 ENST00000265997.5 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_005269630.5 protein_coding - 6/9 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_006717715.4 protein_coding - 7/10 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_011539514.3 protein_coding - 6/9 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_011539515.3 protein_coding - 7/10 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_011539517.3 protein_coding - 5/8 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_011539518.3 protein_coding - 7/10 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_011539519.3 protein_coding - 4/7 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_011539520.3 protein_coding - 4/7 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_017015927.2 protein_coding - 3/6 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_024447893.2 protein_coding - 7/10 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_024447894.2 protein_coding - 7/10 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_024447895.2 protein_coding - 7/10 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424807.1 protein_coding - 8/11 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424808.1 protein_coding - 6/9 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424809.1 protein_coding - 7/10 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424810.1 protein_coding - 6/9 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424812.1 protein_coding - 8/11 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424813.1 protein_coding - 6/9 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424814.1 protein_coding - 7/10 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424815.1 protein_coding - 6/9 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424816.1 protein_coding - 6/9 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424818.1 protein_coding - 4/7 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424819.1 protein_coding - 7/8 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424820.1 protein_coding - 6/7 - - - - - - - - - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T downstream_gene_variant MODIFIER LOC107984254 107984254 Transcript XR_001747551.3 lncRNA - - - - - - - - - - 3432 1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:92118960-92118960 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000411928 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000265997.5 protein_coding - 6/9 - - - - - - - rs75823882 - -1 - HGNC HGNC:21746 NM_014912.5 - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:92119051-92119051 C non_coding_transcript_exon_variant MODIFIER SDHCP2 ENSG00000214549 Transcript ENST00000398565.2 processed_pseudogene 1/1 - - - 388 - - - - rs75823882 - 1 - HGNC HGNC:45177 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000412050.8 protein_coding - 6/9 - - - - - - - rs75823882 - -1 - HGNC HGNC:21746 - - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000614585.4 protein_coding - 6/9 - - - - - - - rs75823882 - -1 - HGNC HGNC:21746 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript NM_001178137.2 protein_coding - 6/9 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript NM_014912.5 protein_coding - 6/9 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 ENST00000265997.5 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_005269630.5 protein_coding - 6/9 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_006717715.4 protein_coding - 7/10 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_011539514.3 protein_coding - 6/9 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_011539515.3 protein_coding - 7/10 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_011539517.3 protein_coding - 5/8 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_011539518.3 protein_coding - 7/10 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_011539519.3 protein_coding - 4/7 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_011539520.3 protein_coding - 4/7 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_017015927.2 protein_coding - 3/6 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_024447893.2 protein_coding - 7/10 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_024447894.2 protein_coding - 7/10 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_024447895.2 protein_coding - 7/10 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424807.1 protein_coding - 8/11 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424808.1 protein_coding - 6/9 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424809.1 protein_coding - 7/10 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424810.1 protein_coding - 6/9 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424812.1 protein_coding - 8/11 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424813.1 protein_coding - 6/9 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424814.1 protein_coding - 7/10 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424815.1 protein_coding - 6/9 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424816.1 protein_coding - 6/9 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424818.1 protein_coding - 4/7 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424819.1 protein_coding - 7/8 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C intron_variant MODIFIER CPEB3 22849 Transcript XM_047424820.1 protein_coding - 6/7 - - - - - - - rs75823882 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C downstream_gene_variant MODIFIER LOC107984254 107984254 Transcript XR_001747551.3 lncRNA - - - - - - - - - rs75823882 3523 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:92119051-92119051 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000411928 enhancer - - - - - - - - - rs75823882 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000265997.5 protein_coding - 6/9 - - - - - - - rs79031676 - -1 - HGNC HGNC:21746 NM_014912.5 - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:92119065-92119065 G non_coding_transcript_exon_variant MODIFIER SDHCP2 ENSG00000214549 Transcript ENST00000398565.2 processed_pseudogene 1/1 - - - 402 - - - - rs79031676 - 1 - HGNC HGNC:45177 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000412050.8 protein_coding - 6/9 - - - - - - - rs79031676 - -1 - HGNC HGNC:21746 - - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000614585.4 protein_coding - 6/9 - - - - - - - rs79031676 - -1 - HGNC HGNC:21746 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript NM_001178137.2 protein_coding - 6/9 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript NM_014912.5 protein_coding - 6/9 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 ENST00000265997.5 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_005269630.5 protein_coding - 6/9 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_006717715.4 protein_coding - 7/10 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_011539514.3 protein_coding - 6/9 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_011539515.3 protein_coding - 7/10 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_011539517.3 protein_coding - 5/8 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_011539518.3 protein_coding - 7/10 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_011539519.3 protein_coding - 4/7 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_011539520.3 protein_coding - 4/7 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_017015927.2 protein_coding - 3/6 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_024447893.2 protein_coding - 7/10 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_024447894.2 protein_coding - 7/10 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_024447895.2 protein_coding - 7/10 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_047424807.1 protein_coding - 8/11 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_047424808.1 protein_coding - 6/9 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_047424809.1 protein_coding - 7/10 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_047424810.1 protein_coding - 6/9 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_047424812.1 protein_coding - 8/11 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_047424813.1 protein_coding - 6/9 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_047424814.1 protein_coding - 7/10 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_047424815.1 protein_coding - 6/9 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_047424816.1 protein_coding - 6/9 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_047424818.1 protein_coding - 4/7 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_047424819.1 protein_coding - 7/8 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G intron_variant MODIFIER CPEB3 22849 Transcript XM_047424820.1 protein_coding - 6/7 - - - - - - - rs79031676 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G downstream_gene_variant MODIFIER LOC107984254 107984254 Transcript XR_001747551.3 lncRNA - - - - - - - - - rs79031676 3537 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:92119065-92119065 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000411928 enhancer - - - - - - - - - rs79031676 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000265997.5 protein_coding - 6/9 - - - - - - - rs74357884 - -1 - HGNC HGNC:21746 NM_014912.5 - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:92119115-92119115 T non_coding_transcript_exon_variant MODIFIER SDHCP2 ENSG00000214549 Transcript ENST00000398565.2 processed_pseudogene 1/1 - - - 452 - - - - rs74357884 - 1 - HGNC HGNC:45177 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000412050.8 protein_coding - 6/9 - - - - - - - rs74357884 - -1 - HGNC HGNC:21746 - - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 ENSG00000107864 Transcript ENST00000614585.4 protein_coding - 6/9 - - - - - - - rs74357884 - -1 - HGNC HGNC:21746 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript NM_001178137.2 protein_coding - 6/9 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript NM_014912.5 protein_coding - 6/9 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 ENST00000265997.5 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_005269630.5 protein_coding - 6/9 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_006717715.4 protein_coding - 7/10 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_011539514.3 protein_coding - 6/9 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_011539515.3 protein_coding - 7/10 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_011539517.3 protein_coding - 5/8 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_011539518.3 protein_coding - 7/10 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_011539519.3 protein_coding - 4/7 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_011539520.3 protein_coding - 4/7 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_017015927.2 protein_coding - 3/6 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_024447893.2 protein_coding - 7/10 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_024447894.2 protein_coding - 7/10 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_024447895.2 protein_coding - 7/10 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424807.1 protein_coding - 8/11 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424808.1 protein_coding - 6/9 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424809.1 protein_coding - 7/10 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424810.1 protein_coding - 6/9 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424812.1 protein_coding - 8/11 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424813.1 protein_coding - 6/9 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424814.1 protein_coding - 7/10 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424815.1 protein_coding - 6/9 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424816.1 protein_coding - 6/9 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424818.1 protein_coding - 4/7 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424819.1 protein_coding - 7/8 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T intron_variant MODIFIER CPEB3 22849 Transcript XM_047424820.1 protein_coding - 6/7 - - - - - - - rs74357884 - -1 - EntrezGene HGNC:21746 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T downstream_gene_variant MODIFIER LOC107984254 107984254 Transcript XR_001747551.3 lncRNA - - - - - - - - - rs74357884 3587 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:92119115-92119115 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000411928 enhancer - - - - - - - - - rs74357884 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:92669210-92669210 C non_coding_transcript_exon_variant MODIFIER EIF2S2P3 ENSG00000236493 Transcript ENST00000428356.1 processed_pseudogene 1/1 - - - 534 - - - - - - -1 - HGNC HGNC:31664 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:92669219-92669219 G non_coding_transcript_exon_variant MODIFIER EIF2S2P3 ENSG00000236493 Transcript ENST00000428356.1 processed_pseudogene 1/1 - - - 525 - - - - - - -1 - HGNC HGNC:31664 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:92669401-92669401 C non_coding_transcript_exon_variant MODIFIER EIF2S2P3 ENSG00000236493 Transcript ENST00000428356.1 processed_pseudogene 1/1 - - - 343 - - - - - - -1 - HGNC HGNC:31664 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:92669498-92669498 C non_coding_transcript_exon_variant MODIFIER EIF2S2P3 ENSG00000236493 Transcript ENST00000428356.1 processed_pseudogene 1/1 - - - 246 - - - - - - -1 - HGNC HGNC:31664 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:92669541-92669541 T non_coding_transcript_exon_variant MODIFIER EIF2S2P3 ENSG00000236493 Transcript ENST00000428356.1 processed_pseudogene 1/1 - - - 203 - - - - - - -1 - HGNC HGNC:31664 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:92669545-92669545 A non_coding_transcript_exon_variant MODIFIER EIF2S2P3 ENSG00000236493 Transcript ENST00000428356.1 processed_pseudogene 1/1 - - - 199 - - - - - - -1 - HGNC HGNC:31664 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:92669610-92669610 T non_coding_transcript_exon_variant MODIFIER EIF2S2P3 ENSG00000236493 Transcript ENST00000428356.1 processed_pseudogene 1/1 - - - 134 - - - - - - -1 - HGNC HGNC:31664 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:93284006-93284006 A non_coding_transcript_exon_variant MODIFIER RPL17P34 ENSG00000213432 Transcript ENST00000394133.2 processed_pseudogene 1/1 - - - 553 - - - - rs2797565 - -1 - HGNC HGNC:36756 - - - - - Ensembl - G G - - - 0.8299 - - - - - - - - - . 10:93284054-93284054 G non_coding_transcript_exon_variant MODIFIER RPL17P34 ENSG00000213432 Transcript ENST00000394133.2 processed_pseudogene 1/1 - - - 505 - - - - rs4113605 - -1 - HGNC HGNC:36756 - - - - - Ensembl - T T - - - 0.5501 - - - - - - - - - . 10:93284126-93284126 T non_coding_transcript_exon_variant MODIFIER RPL17P34 ENSG00000213432 Transcript ENST00000394133.2 processed_pseudogene 1/1 - - - 433 - - - - rs547633991 - -1 - HGNC HGNC:36756 - - - - - Ensembl - C C - - - 0.0002 - - - - - - - - - . 10:93284197-93284197 T non_coding_transcript_exon_variant MODIFIER RPL17P34 ENSG00000213432 Transcript ENST00000394133.2 processed_pseudogene 1/1 - - - 362 - - - - - - -1 - HGNC HGNC:36756 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:93284366-93284366 C non_coding_transcript_exon_variant MODIFIER RPL17P34 ENSG00000213432 Transcript ENST00000394133.2 processed_pseudogene 1/1 - - - 193 - - - - - - -1 - HGNC HGNC:36756 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:93284389-93284389 A non_coding_transcript_exon_variant MODIFIER RPL17P34 ENSG00000213432 Transcript ENST00000394133.2 processed_pseudogene 1/1 - - - 170 - - - - - - -1 - HGNC HGNC:36756 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:93284416-93284416 C non_coding_transcript_exon_variant MODIFIER RPL17P34 ENSG00000213432 Transcript ENST00000394133.2 processed_pseudogene 1/1 - - - 143 - - - - - - -1 - HGNC HGNC:36756 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:93284579-93284579 A upstream_gene_variant MODIFIER RPL17P34 ENSG00000213432 Transcript ENST00000394133.2 processed_pseudogene - - - - - - - - - rs7358167 21 -1 - HGNC HGNC:36756 - - - - - Ensembl - T T - - - 0.4071 - - - - - - - - - . 10:93313149-93313149 C synonymous_variant LOW MYOF ENSG00000138119 Transcript ENST00000358334.9 protein_coding 50/53 - - - 5721 5721 1907 R agA/agG rs787666 - -1 - HGNC HGNC:3656 - - 1 - - Ensembl - T T - - - 0.8435 benign - 1 - - - - - - . 10:93313149-93313149 C synonymous_variant LOW MYOF ENSG00000138119 Transcript ENST00000359263.9 protein_coding 51/54 - - - 5900 5760 1920 R agA/agG rs787666 - -1 - HGNC HGNC:3656 NM_013451.4 - 1 P1 - Ensembl - T T - - - 0.8435 benign - 1 - - - - - - . 10:93313149-93313149 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER MYOF ENSG00000138119 Transcript ENST00000463743.5 nonsense_mediated_decay 31/34 - - - 3852 - - - - rs787666 - -1 cds_start_NF HGNC HGNC:3656 - - 5 - - Ensembl - T T - - - 0.8435 benign - 1 - - - - - - . 10:93313149-93313149 C synonymous_variant LOW MYOF 26509 Transcript NM_013451.4 protein_coding 51/54 - - - 5900 5760 1920 R agA/agG rs787666 - -1 - EntrezGene HGNC:3656 ENST00000359263.9 - - - - RefSeq - T T - - - 0.8435 benign - 1 - - - - - - . 10:93313149-93313149 C synonymous_variant LOW MYOF 26509 Transcript NM_133337.3 protein_coding 50/53 - - - 5861 5721 1907 R agA/agG rs787666 - -1 - EntrezGene HGNC:3656 - - - - - RefSeq - T T - - - 0.8435 benign - 1 - - - - - - . 10:93313149-93313149 C synonymous_variant LOW MYOF 26509 Transcript XM_005269693.5 protein_coding 52/55 - - - 5957 5817 1939 R agA/agG rs787666 - -1 - EntrezGene HGNC:3656 - - - - - RefSeq - T T - - - 0.8435 benign - 1 - - - - - - . 10:93313149-93313149 C synonymous_variant LOW MYOF 26509 Transcript XM_005269694.6 protein_coding 51/54 - - - 5918 5778 1926 R agA/agG rs787666 - -1 - EntrezGene HGNC:3656 - - - - - RefSeq - T T - - - 0.8435 benign - 1 - - - - - - . 10:93313149-93313149 C synonymous_variant LOW MYOF 26509 Transcript XM_017016068.3 protein_coding 51/54 - - - 5711 5391 1797 R agA/agG rs787666 - -1 - EntrezGene HGNC:3656 - - - - - RefSeq - T T - - - 0.8435 benign - 1 - - - - - - . 10:93313149-93313149 C synonymous_variant LOW MYOF 26509 Transcript XM_017016069.2 protein_coding 52/55 - - - 5793 5391 1797 R agA/agG rs787666 - -1 - EntrezGene HGNC:3656 - - - - - RefSeq - T T - - - 0.8435 benign - 1 - - - - - - . 10:93313149-93313149 C synonymous_variant LOW MYOF 26509 Transcript XM_047425048.1 protein_coding 52/55 - - - 5865 5763 1921 R agA/agG rs787666 - -1 - EntrezGene HGNC:3656 - - - - - RefSeq - T T - - - 0.8435 benign - 1 - - - - - - . 10:93313149-93313149 C synonymous_variant LOW MYOF 26509 Transcript XM_047425049.1 protein_coding 51/54 - - - 5901 5391 1797 R agA/agG rs787666 - -1 - EntrezGene HGNC:3656 - - - - - RefSeq - T T - - - 0.8435 benign - 1 - - - - - - . 10:93313149-93313149 C synonymous_variant LOW MYOF 26509 Transcript XM_047425050.1 protein_coding 48/51 - - - 5403 5247 1749 R agA/agG rs787666 - -1 - EntrezGene HGNC:3656 - - - - - RefSeq - T T - - - 0.8435 benign - 1 - - - - - - . 10:93503224-93503224 G missense_variant MODERATE CEP55 ENSG00000138180 Transcript ENST00000371485.8 protein_coding 3/9 - - - 619 295 99 T/A Aca/Gca rs7080916 - 1 - HGNC HGNC:1161 NM_018131.5 - 1 P1 - Ensembl - A A - tolerated(0.25) benign(0) 0.9830 benign - 1 - - - - - - . 10:93503224-93503224 G upstream_gene_variant MODIFIER CEP55 ENSG00000138180 Transcript ENST00000445435.1 protein_coding - - - - - - - - - rs7080916 3786 1 cds_start_NF HGNC HGNC:1161 - - 2 - - Ensembl - A A - - - 0.9830 benign - 1 - - - - - - . 10:93503224-93503224 G missense_variant MODERATE CEP55 55165 Transcript NM_001127182.2 protein_coding 3/9 - - - 477 295 99 T/A Aca/Gca rs7080916 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - tolerated(0.25) benign(0) 0.9830 benign - 1 - - - - - - . 10:93503224-93503224 G missense_variant MODERATE CEP55 55165 Transcript NM_018131.5 protein_coding 3/9 - - - 619 295 99 T/A Aca/Gca rs7080916 - 1 - EntrezGene HGNC:1161 ENST00000371485.8 - - - - RefSeq - A A - tolerated(0.25) benign(0) 0.9830 benign - 1 - - - - - - . 10:93503224-93503224 G 5_prime_UTR_variant MODIFIER CEP55 55165 Transcript XM_011539918.2 protein_coding 2/8 - - - 211 - - - - rs7080916 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.9830 benign - 1 - - - - - - . 10:93503224-93503224 G 5_prime_UTR_variant MODIFIER CEP55 55165 Transcript XM_011539919.2 protein_coding 3/9 - - - 481 - - - - rs7080916 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.9830 benign - 1 - - - - - - . 10:93503224-93503224 G 5_prime_UTR_variant MODIFIER CEP55 55165 Transcript XM_011539920.3 protein_coding 3/9 - - - 328 - - - - rs7080916 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.9830 benign - 1 - - - - - - . 10:93503224-93503224 G 5_prime_UTR_variant MODIFIER CEP55 55165 Transcript XM_017016372.2 protein_coding 3/9 - - - 470 - - - - rs7080916 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.9830 benign - 1 - - - - - - . 10:93503224-93503224 G 5_prime_UTR_variant MODIFIER CEP55 55165 Transcript XM_017016373.2 protein_coding 3/9 - - - 492 - - - - rs7080916 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.9830 benign - 1 - - - - - - . 10:93503224-93503224 G 5_prime_UTR_variant MODIFIER CEP55 55165 Transcript XM_047425416.1 protein_coding 3/9 - - - 339 - - - - rs7080916 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.9830 benign - 1 - - - - - - . 10:93503224-93503224 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000412228 enhancer - - - - - - - - - rs7080916 - - - - - - - - - - - - - - - - - 0.9830 benign - 1 - - - - - - . 10:93516985-93516985 C missense_variant MODERATE CEP55 ENSG00000138180 Transcript ENST00000371485.8 protein_coding 6/9 - - - 1054 730 244 A/P Gca/Cca rs41308663,COSV65184750 - 1 - HGNC HGNC:1161 NM_018131.5 - 1 P1 - Ensembl - G G - deleterious(0) possibly_damaging(0.778) 0.0905 benign 0,1 1,1 - - - - - - . 10:93516985-93516985 C missense_variant MODERATE CEP55 ENSG00000138180 Transcript ENST00000445435.1 protein_coding 3/4 - - - 249 250 84 A/P Gca/Cca rs41308663,COSV65184750 - 1 cds_start_NF HGNC HGNC:1161 - - 2 - - Ensembl - G G - deleterious(0) probably_damaging(0.95) 0.0905 benign 0,1 1,1 - - - - - - . 10:93516985-93516985 C upstream_gene_variant MODIFIER CEP55 ENSG00000138180 Transcript ENST00000496302.1 protein_coding_CDS_not_defined - - - - - - - - - rs41308663,COSV65184750 222 1 - HGNC HGNC:1161 - - 5 - - Ensembl - G G - - - 0.0905 benign 0,1 1,1 - - - - - - . 10:93516985-93516985 C missense_variant MODERATE CEP55 55165 Transcript NM_001127182.2 protein_coding 6/9 - - - 912 730 244 A/P Gca/Cca rs41308663,COSV65184750 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - G G - deleterious(0) possibly_damaging(0.778) 0.0905 benign 0,1 1,1 - - - - - - . 10:93516985-93516985 C missense_variant MODERATE CEP55 55165 Transcript NM_018131.5 protein_coding 6/9 - - - 1054 730 244 A/P Gca/Cca rs41308663,COSV65184750 - 1 - EntrezGene HGNC:1161 ENST00000371485.8 - - - - RefSeq - G G - deleterious(0) possibly_damaging(0.778) 0.0905 benign 0,1 1,1 - - - - - - . 10:93516985-93516985 C missense_variant MODERATE CEP55 55165 Transcript XM_011539918.2 protein_coding 5/8 - - - 646 223 75 A/P Gca/Cca rs41308663,COSV65184750 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - G G - - - 0.0905 benign 0,1 1,1 - - - - - - . 10:93516985-93516985 C missense_variant MODERATE CEP55 55165 Transcript XM_011539919.2 protein_coding 6/9 - - - 916 223 75 A/P Gca/Cca rs41308663,COSV65184750 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - G G - - - 0.0905 benign 0,1 1,1 - - - - - - . 10:93516985-93516985 C missense_variant MODERATE CEP55 55165 Transcript XM_011539920.3 protein_coding 6/9 - - - 763 223 75 A/P Gca/Cca rs41308663,COSV65184750 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - G G - - - 0.0905 benign 0,1 1,1 - - - - - - . 10:93516985-93516985 C missense_variant MODERATE CEP55 55165 Transcript XM_017016372.2 protein_coding 6/9 - - - 905 223 75 A/P Gca/Cca rs41308663,COSV65184750 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - G G - - - 0.0905 benign 0,1 1,1 - - - - - - . 10:93516985-93516985 C missense_variant MODERATE CEP55 55165 Transcript XM_017016373.2 protein_coding 6/9 - - - 927 223 75 A/P Gca/Cca rs41308663,COSV65184750 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - G G - - - 0.0905 benign 0,1 1,1 - - - - - - . 10:93516985-93516985 C missense_variant MODERATE CEP55 55165 Transcript XM_047425416.1 protein_coding 6/9 - - - 774 223 75 A/P Gca/Cca rs41308663,COSV65184750 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - G G - - - 0.0905 benign 0,1 1,1 - - - - - - . 10:93518839-93518839 C intron_variant MODIFIER CEP55 ENSG00000138180 Transcript ENST00000371485.8 protein_coding - 6/8 - - - - - - - rs2280604,COSV65184756 - 1 - HGNC HGNC:1161 NM_018131.5 - 1 P1 - Ensembl - T T - - - 0.0615 - 0,1 0,1 - - - - - - . 10:93518839-93518839 C intron_variant MODIFIER CEP55 ENSG00000138180 Transcript ENST00000445435.1 protein_coding - 3/3 - - - - - - - rs2280604,COSV65184756 - 1 cds_start_NF HGNC HGNC:1161 - - 2 - - Ensembl - T T - - - 0.0615 - 0,1 0,1 - - - - - - . 10:93518839-93518839 C intron_variant,non_coding_transcript_variant MODIFIER CEP55 ENSG00000138180 Transcript ENST00000496302.1 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs2280604,COSV65184756 - 1 - HGNC HGNC:1161 - - 5 - - Ensembl - T T - - - 0.0615 - 0,1 0,1 - - - - - - . 10:93518839-93518839 C intron_variant MODIFIER CEP55 55165 Transcript NM_001127182.2 protein_coding - 6/8 - - - - - - - rs2280604,COSV65184756 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - T T - - - 0.0615 - 0,1 0,1 - - - - - - . 10:93518839-93518839 C intron_variant MODIFIER CEP55 55165 Transcript NM_018131.5 protein_coding - 6/8 - - - - - - - rs2280604,COSV65184756 - 1 - EntrezGene HGNC:1161 ENST00000371485.8 - - - - RefSeq - T T - - - 0.0615 - 0,1 0,1 - - - - - - . 10:93518839-93518839 C intron_variant MODIFIER CEP55 55165 Transcript XM_011539918.2 protein_coding - 5/7 - - - - - - - rs2280604,COSV65184756 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - T T - - - 0.0615 - 0,1 0,1 - - - - - - . 10:93518839-93518839 C intron_variant MODIFIER CEP55 55165 Transcript XM_011539919.2 protein_coding - 6/8 - - - - - - - rs2280604,COSV65184756 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - T T - - - 0.0615 - 0,1 0,1 - - - - - - . 10:93518839-93518839 C intron_variant MODIFIER CEP55 55165 Transcript XM_011539920.3 protein_coding - 6/8 - - - - - - - rs2280604,COSV65184756 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - T T - - - 0.0615 - 0,1 0,1 - - - - - - . 10:93518839-93518839 C intron_variant MODIFIER CEP55 55165 Transcript XM_017016372.2 protein_coding - 6/8 - - - - - - - rs2280604,COSV65184756 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - T T - - - 0.0615 - 0,1 0,1 - - - - - - . 10:93518839-93518839 C intron_variant MODIFIER CEP55 55165 Transcript XM_017016373.2 protein_coding - 6/8 - - - - - - - rs2280604,COSV65184756 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - T T - - - 0.0615 - 0,1 0,1 - - - - - - . 10:93518839-93518839 C intron_variant MODIFIER CEP55 55165 Transcript XM_047425416.1 protein_coding - 6/8 - - - - - - - rs2280604,COSV65184756 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - T T - - - 0.0615 - 0,1 0,1 - - - - - - . 10:93519072-93519072 G intron_variant MODIFIER CEP55 ENSG00000138180 Transcript ENST00000371485.8 protein_coding - 7/8 - - - - - - - rs2280605 - 1 - HGNC HGNC:1161 NM_018131.5 - 1 P1 - Ensembl - A A - - - 0.6276 - - - - - - - - - . 10:93519072-93519072 G 3_prime_UTR_variant MODIFIER CEP55 ENSG00000138180 Transcript ENST00000445435.1 protein_coding 4/4 - - - 708 - - - - rs2280605 - 1 cds_start_NF HGNC HGNC:1161 - - 2 - - Ensembl - A A - - - 0.6276 - - - - - - - - - . 10:93519072-93519072 G intron_variant,non_coding_transcript_variant MODIFIER CEP55 ENSG00000138180 Transcript ENST00000496302.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs2280605 - 1 - HGNC HGNC:1161 - - 5 - - Ensembl - A A - - - 0.6276 - - - - - - - - - . 10:93519072-93519072 G intron_variant MODIFIER CEP55 55165 Transcript NM_001127182.2 protein_coding - 7/8 - - - - - - - rs2280605 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.6276 - - - - - - - - - . 10:93519072-93519072 G intron_variant MODIFIER CEP55 55165 Transcript NM_018131.5 protein_coding - 7/8 - - - - - - - rs2280605 - 1 - EntrezGene HGNC:1161 ENST00000371485.8 - - - - RefSeq - A A - - - 0.6276 - - - - - - - - - . 10:93519072-93519072 G intron_variant MODIFIER CEP55 55165 Transcript XM_011539918.2 protein_coding - 6/7 - - - - - - - rs2280605 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.6276 - - - - - - - - - . 10:93519072-93519072 G intron_variant MODIFIER CEP55 55165 Transcript XM_011539919.2 protein_coding - 7/8 - - - - - - - rs2280605 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.6276 - - - - - - - - - . 10:93519072-93519072 G intron_variant MODIFIER CEP55 55165 Transcript XM_011539920.3 protein_coding - 7/8 - - - - - - - rs2280605 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.6276 - - - - - - - - - . 10:93519072-93519072 G intron_variant MODIFIER CEP55 55165 Transcript XM_017016372.2 protein_coding - 7/8 - - - - - - - rs2280605 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.6276 - - - - - - - - - . 10:93519072-93519072 G intron_variant MODIFIER CEP55 55165 Transcript XM_017016373.2 protein_coding - 7/8 - - - - - - - rs2280605 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.6276 - - - - - - - - - . 10:93519072-93519072 G intron_variant MODIFIER CEP55 55165 Transcript XM_047425416.1 protein_coding - 7/8 - - - - - - - rs2280605 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.6276 - - - - - - - - - . 10:93519749-93519749 T missense_variant MODERATE CEP55 ENSG00000138180 Transcript ENST00000371485.8 protein_coding 8/9 - - - 1457 1133 378 H/L cAt/cTt rs2293277,COSV65184775 - 1 - HGNC HGNC:1161 NM_018131.5 - 1 P1 - Ensembl - A A - deleterious(0) benign(0.136) 0.5597 benign 0,1 1,1 16385451,26201965,28264986,24490137,28195579 - - - - - . 10:93519749-93519749 T downstream_gene_variant MODIFIER CEP55 ENSG00000138180 Transcript ENST00000445435.1 protein_coding - - - - - - - - - rs2293277,COSV65184775 638 1 cds_start_NF HGNC HGNC:1161 - - 2 - - Ensembl - A A - - - 0.5597 benign 0,1 1,1 16385451,26201965,28264986,24490137,28195579 - - - - - . 10:93519749-93519749 T non_coding_transcript_exon_variant MODIFIER CEP55 ENSG00000138180 Transcript ENST00000496302.1 protein_coding_CDS_not_defined 3/3 - - - 182 - - - - rs2293277,COSV65184775 - 1 - HGNC HGNC:1161 - - 5 - - Ensembl - A A - - - 0.5597 benign 0,1 1,1 16385451,26201965,28264986,24490137,28195579 - - - - - . 10:93519749-93519749 T missense_variant MODERATE CEP55 55165 Transcript NM_001127182.2 protein_coding 8/9 - - - 1315 1133 378 H/L cAt/cTt rs2293277,COSV65184775 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - deleterious(0) benign(0.136) 0.5597 benign 0,1 1,1 16385451,26201965,28264986,24490137,28195579 - - - - - . 10:93519749-93519749 T missense_variant MODERATE CEP55 55165 Transcript NM_018131.5 protein_coding 8/9 - - - 1457 1133 378 H/L cAt/cTt rs2293277,COSV65184775 - 1 - EntrezGene HGNC:1161 ENST00000371485.8 - - - - RefSeq - A A - deleterious(0) benign(0.136) 0.5597 benign 0,1 1,1 16385451,26201965,28264986,24490137,28195579 - - - - - . 10:93519749-93519749 T missense_variant MODERATE CEP55 55165 Transcript XM_011539918.2 protein_coding 7/8 - - - 1049 626 209 H/L cAt/cTt rs2293277,COSV65184775 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.5597 benign 0,1 1,1 16385451,26201965,28264986,24490137,28195579 - - - - - . 10:93519749-93519749 T missense_variant MODERATE CEP55 55165 Transcript XM_011539919.2 protein_coding 8/9 - - - 1319 626 209 H/L cAt/cTt rs2293277,COSV65184775 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.5597 benign 0,1 1,1 16385451,26201965,28264986,24490137,28195579 - - - - - . 10:93519749-93519749 T missense_variant MODERATE CEP55 55165 Transcript XM_011539920.3 protein_coding 8/9 - - - 1166 626 209 H/L cAt/cTt rs2293277,COSV65184775 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.5597 benign 0,1 1,1 16385451,26201965,28264986,24490137,28195579 - - - - - . 10:93519749-93519749 T missense_variant MODERATE CEP55 55165 Transcript XM_017016372.2 protein_coding 8/9 - - - 1308 626 209 H/L cAt/cTt rs2293277,COSV65184775 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.5597 benign 0,1 1,1 16385451,26201965,28264986,24490137,28195579 - - - - - . 10:93519749-93519749 T missense_variant MODERATE CEP55 55165 Transcript XM_017016373.2 protein_coding 8/9 - - - 1330 626 209 H/L cAt/cTt rs2293277,COSV65184775 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.5597 benign 0,1 1,1 16385451,26201965,28264986,24490137,28195579 - - - - - . 10:93519749-93519749 T missense_variant MODERATE CEP55 55165 Transcript XM_047425416.1 protein_coding 8/9 - - - 1177 626 209 H/L cAt/cTt rs2293277,COSV65184775 - 1 - EntrezGene HGNC:1161 - - - - - RefSeq - A A - - - 0.5597 benign 0,1 1,1 16385451,26201965,28264986,24490137,28195579 - - - - - . 10:93621033-93621033 A intron_variant MODIFIER PDE6C ENSG00000095464 Transcript ENST00000371447.4 protein_coding - 3/21 - - - - - - - rs1223306,COSV65118283 - 1 - HGNC HGNC:8787 NM_006204.4 - 1 P1 - Ensembl - G G - - - 0.4910 benign 0,1 1,1 - - - - - - . 10:93621033-93621033 A intron_variant MODIFIER PDE6C 5146 Transcript NM_006204.4 protein_coding - 3/21 - - - - - - - rs1223306,COSV65118283 - 1 - EntrezGene HGNC:8787 ENST00000371447.4 - - - - RefSeq - G G - - - 0.4910 benign 0,1 1,1 - - - - - - . 10:93622016-93622016 A missense_variant MODERATE PDE6C ENSG00000095464 Transcript ENST00000371447.4 protein_coding 4/22 - - - 997 808 270 S/T Tca/Aca rs701865,CM1213490,COSV65115349 - 1 - HGNC HGNC:8787 NM_006204.4 - 1 P1 - Ensembl - T T - tolerated_low_confidence(1) benign(0) 0.4143 benign 0,0,1 1,1,1 25741868,16385451,17008408,22449891 - - - - - . 10:93622016-93622016 A missense_variant MODERATE PDE6C 5146 Transcript NM_006204.4 protein_coding 4/22 - - - 997 808 270 S/T Tca/Aca rs701865,CM1213490,COSV65115349 - 1 - EntrezGene HGNC:8787 ENST00000371447.4 - - - - RefSeq - T T - tolerated_low_confidence(1) benign(0) 0.4143 benign 0,0,1 1,1,1 25741868,16385451,17008408,22449891 - - - - - . 10:93629284-93629284 A synonymous_variant LOW PDE6C ENSG00000095464 Transcript ENST00000371447.4 protein_coding 8/22 - - - 1287 1098 366 A gcG/gcA rs714550,COSV65115807 - 1 - HGNC HGNC:8787 NM_006204.4 - 1 P1 - Ensembl - G G - - - 0.3958 benign 0,1 1,1 25741868 - - - - - . 10:93629284-93629284 A synonymous_variant LOW PDE6C 5146 Transcript NM_006204.4 protein_coding 8/22 - - - 1287 1098 366 A gcG/gcA rs714550,COSV65115807 - 1 - EntrezGene HGNC:8787 ENST00000371447.4 - - - - RefSeq - G G - - - 0.3958 benign 0,1 1,1 25741868 - - - - - . 10:93673367-93673367 G intron_variant MODIFIER FRA10AC1 ENSG00000148690 Transcript ENST00000359204.5 protein_coding - 12/13 - - - - - - - rs1326214,COSV63274168 - -1 - HGNC HGNC:1162 NM_145246.5 - 1 P1 - Ensembl - A A - - - 0.4936 - 0,1 0,1 - - - - - - . 10:93673367-93673367 G non_coding_transcript_exon_variant MODIFIER FRA10AC1 ENSG00000148690 Transcript ENST00000460752.1 protein_coding_CDS_not_defined 1/2 - - - 1938 - - - - rs1326214,COSV63274168 - -1 - HGNC HGNC:1162 - - 1 - - Ensembl - A A - - - 0.4936 - 0,1 0,1 - - - - - - . 10:93673367-93673367 G upstream_gene_variant MODIFIER FRA10AC1 ENSG00000148690 Transcript ENST00000462771.1 protein_coding_CDS_not_defined - - - - - - - - - rs1326214,COSV63274168 336 -1 - HGNC HGNC:1162 - - 3 - - Ensembl - A A - - - 0.4936 - 0,1 0,1 - - - - - - . 10:93673367-93673367 G upstream_gene_variant MODIFIER FRA10AC1 ENSG00000148690 Transcript ENST00000483229.1 protein_coding_CDS_not_defined - - - - - - - - - rs1326214,COSV63274168 1276 -1 - HGNC HGNC:1162 - - 3 - - Ensembl - A A - - - 0.4936 - 0,1 0,1 - - - - - - . 10:93673367-93673367 G intron_variant MODIFIER FRA10AC1 118924 Transcript NM_001347712.2 protein_coding - 12/13 - - - - - - - rs1326214,COSV63274168 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - A A - - - 0.4936 - 0,1 0,1 - - - - - - . 10:93673367-93673367 G intron_variant MODIFIER FRA10AC1 118924 Transcript NM_001347713.2 protein_coding - 13/14 - - - - - - - rs1326214,COSV63274168 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - A A - - - 0.4936 - 0,1 0,1 - - - - - - . 10:93673367-93673367 G intron_variant MODIFIER FRA10AC1 118924 Transcript NM_001347714.2 protein_coding - 12/13 - - - - - - - rs1326214,COSV63274168 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - A A - - - 0.4936 - 0,1 0,1 - - - - - - . 10:93673367-93673367 G intron_variant MODIFIER FRA10AC1 118924 Transcript NM_001347715.2 protein_coding - 13/14 - - - - - - - rs1326214,COSV63274168 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - A A - - - 0.4936 - 0,1 0,1 - - - - - - . 10:93673367-93673367 G intron_variant MODIFIER FRA10AC1 118924 Transcript NM_145246.5 protein_coding - 12/13 - - - - - - - rs1326214,COSV63274168 - -1 - EntrezGene HGNC:1162 ENST00000359204.5 - - - - RefSeq - A A - - - 0.4936 - 0,1 0,1 - - - - - - . 10:93673367-93673367 G intron_variant,non_coding_transcript_variant MODIFIER FRA10AC1 118924 Transcript NR_144635.2 misc_RNA - 11/12 - - - - - - - rs1326214,COSV63274168 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - A A - - - 0.4936 - 0,1 0,1 - - - - - - . 10:93694924-93694924 C missense_variant MODERATE FRA10AC1 ENSG00000148690 Transcript ENST00000359204.5 protein_coding 5/14 - - - 451 233 78 T/R aCa/aGa rs2275438 - -1 - HGNC HGNC:1162 NM_145246.5 - 1 P1 - Ensembl - G G - deleterious(0.03) benign(0) 0.3606 - - - - - - - - - . 10:93694924-93694924 C missense_variant MODERATE FRA10AC1 118924 Transcript NM_001347712.2 protein_coding 5/14 - - - 652 233 78 T/R aCa/aGa rs2275438 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - G G - deleterious(0.03) benign(0) 0.3606 - - - - - - - - - . 10:93694924-93694924 C missense_variant MODERATE FRA10AC1 118924 Transcript NM_001347713.2 protein_coding 6/15 - - - 571 233 78 T/R aCa/aGa rs2275438 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - G G - deleterious(0.03) benign(0) 0.3606 - - - - - - - - - . 10:93694924-93694924 C missense_variant MODERATE FRA10AC1 118924 Transcript NM_001347714.2 protein_coding 5/14 - - - 544 233 78 T/R aCa/aGa rs2275438 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - G G - deleterious(0.03) benign(0) 0.3606 - - - - - - - - - . 10:93694924-93694924 C missense_variant MODERATE FRA10AC1 118924 Transcript NM_001347715.2 protein_coding 6/15 - - - 528 233 78 T/R aCa/aGa rs2275438 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - G G - deleterious(0.03) benign(0) 0.3606 - - - - - - - - - . 10:93694924-93694924 C missense_variant MODERATE FRA10AC1 118924 Transcript NM_145246.5 protein_coding 5/14 - - - 451 233 78 T/R aCa/aGa rs2275438 - -1 - EntrezGene HGNC:1162 ENST00000359204.5 - - - - RefSeq - G G - deleterious(0.03) benign(0) 0.3606 - - - - - - - - - . 10:93694924-93694924 C non_coding_transcript_exon_variant MODIFIER FRA10AC1 118924 Transcript NR_144635.2 misc_RNA 5/13 - - - 451 - - - - rs2275438 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - G G - - - 0.3606 - - - - - - - - - . 10:93700060-93700060 T missense_variant MODERATE FRA10AC1 ENSG00000148690 Transcript ENST00000359204.5 protein_coding 2/14 - - - 265 47 16 R/H cGc/cAc rs726817,COSV63272927 - -1 - HGNC HGNC:1162 NM_145246.5 - 1 P1 - Ensembl - C C - tolerated(0.34) benign(0) 0.6226 - 0,1 0,1 21912186,16385451 - - - - - . 10:93700060-93700060 T missense_variant MODERATE FRA10AC1 118924 Transcript NM_001347712.2 protein_coding 2/14 - - - 466 47 16 R/H cGc/cAc rs726817,COSV63272927 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - C C - tolerated(0.34) benign(0) 0.6226 - 0,1 0,1 21912186,16385451 - - - - - . 10:93700060-93700060 T missense_variant MODERATE FRA10AC1 118924 Transcript NM_001347713.2 protein_coding 3/15 - - - 385 47 16 R/H cGc/cAc rs726817,COSV63272927 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - C C - tolerated(0.34) benign(0) 0.6226 - 0,1 0,1 21912186,16385451 - - - - - . 10:93700060-93700060 T missense_variant MODERATE FRA10AC1 118924 Transcript NM_001347714.2 protein_coding 2/14 - - - 358 47 16 R/H cGc/cAc rs726817,COSV63272927 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - C C - tolerated(0.34) benign(0) 0.6226 - 0,1 0,1 21912186,16385451 - - - - - . 10:93700060-93700060 T missense_variant MODERATE FRA10AC1 118924 Transcript NM_001347715.2 protein_coding 3/15 - - - 342 47 16 R/H cGc/cAc rs726817,COSV63272927 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - C C - tolerated(0.34) benign(0) 0.6226 - 0,1 0,1 21912186,16385451 - - - - - . 10:93700060-93700060 T missense_variant MODERATE FRA10AC1 118924 Transcript NM_145246.5 protein_coding 2/14 - - - 265 47 16 R/H cGc/cAc rs726817,COSV63272927 - -1 - EntrezGene HGNC:1162 ENST00000359204.5 - - - - RefSeq - C C - tolerated(0.34) benign(0) 0.6226 - 0,1 0,1 21912186,16385451 - - - - - . 10:93700060-93700060 T non_coding_transcript_exon_variant MODIFIER FRA10AC1 118924 Transcript NR_144635.2 misc_RNA 2/13 - - - 265 - - - - rs726817,COSV63272927 - -1 - EntrezGene HGNC:1162 - - - - - RefSeq - C C - - - 0.6226 - 0,1 0,1 21912186,16385451 - - - - - . 10:93792896-93792896 C synonymous_variant LOW LGI1 ENSG00000108231 Transcript ENST00000371413.4 protein_coding 6/8 - - - 657 657 219 F ttT/ttC rs1111820 - 1 - HGNC HGNC:6572 - - 1 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C synonymous_variant LOW LGI1 ENSG00000108231 Transcript ENST00000371418.9 protein_coding 6/8 - - - 866 657 219 F ttT/ttC rs1111820 - 1 - HGNC HGNC:6572 NM_005097.4 - 1 P1 - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C non_coding_transcript_exon_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000485458.3 retained_intron 4/6 - - - 4633 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C non_coding_transcript_exon_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000626307.1 retained_intron 1/3 - - - 4572 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 1 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C non_coding_transcript_exon_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000626946.1 retained_intron 1/2 - - - 54 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 4 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C upstream_gene_variant MODIFIER - ENSG00000280485 Transcript ENST00000627075.1 lncRNA - - - - - - - - - rs1111820 4291 -1 - - - - - 3 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000627420.2 nonsense_mediated_decay 4/6 - - - 890 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 1 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C synonymous_variant LOW LGI1 ENSG00000108231 Transcript ENST00000629035.2 protein_coding 5/7 - - - 879 585 195 F ttT/ttC rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C synonymous_variant LOW LGI1 ENSG00000108231 Transcript ENST00000630047.2 protein_coding 4/6 - - - 687 513 171 F ttT/ttC rs1111820 - 1 - HGNC HGNC:6572 - - 2 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C downstream_gene_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000630184.2 protein_coding - - - - - - - - - rs1111820 500 1 - HGNC HGNC:6572 - - 2 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C non_coding_transcript_exon_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000630412.1 protein_coding_CDS_not_defined 3/4 - - - 445 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 4 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000630487.2 nonsense_mediated_decay 6/7 - - - 936 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 3 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C upstream_gene_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000635804.1 protein_coding_CDS_not_defined - - - - - - - - - rs1111820 1658 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C synonymous_variant,NMD_transcript_variant LOW LGI1 ENSG00000108231 Transcript ENST00000635953.1 nonsense_mediated_decay 6/9 - - - 840 657 219 F ttT/ttC rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C synonymous_variant LOW LGI1 ENSG00000108231 Transcript ENST00000636155.1 protein_coding 6/8 - - - 774 657 219 F ttT/ttC rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000636232.1 nonsense_mediated_decay 6/8 - - - 839 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000636754.1 nonsense_mediated_decay 7/9 - - - 927 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000636946.1 nonsense_mediated_decay 6/8 - - - 1281 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000637037.1 nonsense_mediated_decay 7/9 - - - 1132 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C non_coding_transcript_exon_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000637347.1 protein_coding_CDS_not_defined 5/7 - - - 518 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000637611.1 nonsense_mediated_decay 6/8 - - - 903 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C 5_prime_UTR_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000637689.1 protein_coding 6/8 - - - 480 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000637925.1 nonsense_mediated_decay 7/9 - - - 838 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000638049.1 nonsense_mediated_decay 6/8 - - - 748 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - 5 - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C non_coding_transcript_exon_variant MODIFIER LGI1 ENSG00000108231 Transcript ENST00000676175.1 retained_intron 2/4 - - - 2396 - - - - rs1111820 - 1 - HGNC HGNC:6572 - - - - - Ensembl - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C synonymous_variant LOW LGI1 9211 Transcript NM_001308275.2 protein_coding 6/8 - - - 866 657 219 F ttT/ttC rs1111820 - 1 - EntrezGene HGNC:6572 - - - - - RefSeq - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C synonymous_variant LOW LGI1 9211 Transcript NM_001308276.2 protein_coding 4/6 - - - 722 513 171 F ttT/ttC rs1111820 - 1 - EntrezGene HGNC:6572 - - - - - RefSeq - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C synonymous_variant LOW LGI1 9211 Transcript NM_005097.4 protein_coding 6/8 - - - 866 657 219 F ttT/ttC rs1111820 - 1 - EntrezGene HGNC:6572 ENST00000371418.9 - - - - RefSeq - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C non_coding_transcript_exon_variant MODIFIER LGI1 9211 Transcript NR_131777.2 misc_RNA 4/6 - - - 794 - - - - rs1111820 - 1 - EntrezGene HGNC:6572 - - - - - RefSeq - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C synonymous_variant LOW LGI1 9211 Transcript XM_017016911.3 protein_coding 6/8 - - - 866 657 219 F ttT/ttC rs1111820 - 1 - EntrezGene HGNC:6572 - - - - - RefSeq - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C synonymous_variant LOW LGI1 9211 Transcript XM_017016912.3 protein_coding 4/6 - - - 722 513 171 F ttT/ttC rs1111820 - 1 - EntrezGene HGNC:6572 - - - - - RefSeq - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C upstream_gene_variant MODIFIER LOC105378437 105378437 Transcript XR_001747552.2 lncRNA - - - - - - - - - rs1111820 4288 -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.9774 benign - 1 - - - - - - . 10:93792896-93792896 C upstream_gene_variant MODIFIER LOC105378437 105378437 Transcript XR_007062251.1 lncRNA - - - - - - - - - rs1111820 4288 -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.9774 benign - 1 - - - - - - . 10:93958777-93958777 A non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 2764 - - - - - - -1 - HGNC HGNC:23733 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:93958777-93958777 A downstream_gene_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene - - - - - - - - - - 31 -1 - HGNC HGNC:23733 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:93958777-93958777 A downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - - 2715 1 - HGNC HGNC:26607 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:93958777-93958777 A downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000605679.5 nonsense_mediated_decay - - - - - - - - - - 4521 1 - HGNC HGNC:26607 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:93958777-93958777 A non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 3139 - - - - - - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:93958783-93958783 A non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 2758 - - - - - - -1 - HGNC HGNC:23733 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:93958783-93958783 A downstream_gene_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene - - - - - - - - - - 25 -1 - HGNC HGNC:23733 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:93958783-93958783 A downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - - 2721 1 - HGNC HGNC:26607 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:93958783-93958783 A downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000605679.5 nonsense_mediated_decay - - - - - - - - - - 4527 1 - HGNC HGNC:26607 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:93958783-93958783 A non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 3133 - - - - - - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:93958843-93958843 C non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 2698 - - - - rs11815169 - -1 - HGNC HGNC:23733 - - - - - Ensembl - T T - - - 0.2562 - - - - - - - - - . 10:93958843-93958843 C non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene 1/1 - - - 2698 - - - - rs11815169 - -1 - HGNC HGNC:23733 - - - - - Ensembl - T T - - - 0.2562 - - - - - - - - - . 10:93958843-93958843 C downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - rs11815169 2781 1 - HGNC HGNC:26607 - - 5 - - Ensembl - T T - - - 0.2562 - - - - - - - - - . 10:93958843-93958843 C downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000605679.5 nonsense_mediated_decay - - - - - - - - - rs11815169 4587 1 - HGNC HGNC:26607 - - 1 - - Ensembl - T T - - - 0.2562 - - - - - - - - - . 10:93958843-93958843 C non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 3073 - - - - rs11815169 - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - T T - - - 0.2562 - - - - - - - - - . 10:93958876-93958876 T non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 2665 - - - - rs1350665893 - -1 - HGNC HGNC:23733 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:93958876-93958876 T non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene 1/1 - - - 2665 - - - - rs1350665893 - -1 - HGNC HGNC:23733 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:93958876-93958876 T downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - rs1350665893 2814 1 - HGNC HGNC:26607 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:93958876-93958876 T downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000605679.5 nonsense_mediated_decay - - - - - - - - - rs1350665893 4620 1 - HGNC HGNC:26607 - - 1 - - Ensembl - C C - - - - - - - - - - - - - . 10:93958876-93958876 T non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 3040 - - - - rs1350665893 - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:93958952-93958952 C non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 2589 - - - - rs879237867 - -1 - HGNC HGNC:23733 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:93958952-93958952 C non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene 1/1 - - - 2589 - - - - rs879237867 - -1 - HGNC HGNC:23733 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:93958952-93958952 C downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - rs879237867 2890 1 - HGNC HGNC:26607 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:93958952-93958952 C downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000605679.5 nonsense_mediated_decay - - - - - - - - - rs879237867 4696 1 - HGNC HGNC:26607 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:93958952-93958952 C non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 2964 - - - - rs879237867 - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:93959353-93959353 G non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 2188 - - - - rs780649289 - -1 - HGNC HGNC:23733 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:93959353-93959353 G non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene 1/1 - - - 2188 - - - - rs780649289 - -1 - HGNC HGNC:23733 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:93959353-93959353 G downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - rs780649289 3291 1 - HGNC HGNC:26607 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:93959353-93959353 G non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 2563 - - - - rs780649289 - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:93959385-93959385 G non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 2156 - - - - rs879131573 - -1 - HGNC HGNC:23733 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:93959385-93959385 G non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene 1/1 - - - 2156 - - - - rs879131573 - -1 - HGNC HGNC:23733 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:93959385-93959385 G downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - rs879131573 3323 1 - HGNC HGNC:26607 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:93959385-93959385 G non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 2531 - - - - rs879131573 - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:93960655-93960655 A non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 886 - - - - rs1235161025 - -1 - HGNC HGNC:23733 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:93960655-93960655 A non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene 1/1 - - - 886 - - - - rs1235161025 - -1 - HGNC HGNC:23733 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:93960655-93960655 A downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - rs1235161025 4593 1 - HGNC HGNC:26607 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:93960655-93960655 A non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 1261 - - - - rs1235161025 - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:93960658-93960658 T non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 883 - - - - rs767846227 - -1 - HGNC HGNC:23733 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:93960658-93960658 T non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene 1/1 - - - 883 - - - - rs767846227 - -1 - HGNC HGNC:23733 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:93960658-93960658 T downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - rs767846227 4596 1 - HGNC HGNC:26607 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:93960658-93960658 T non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 1258 - - - - rs767846227 - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:93960733-93960733 T non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 808 - - - - rs12570608 - -1 - HGNC HGNC:23733 - - - - - Ensembl - C C - - - 0.1569 - - - - - - - - - . 10:93960733-93960733 T non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene 1/1 - - - 808 - - - - rs12570608 - -1 - HGNC HGNC:23733 - - - - - Ensembl - C C - - - 0.1569 - - - - - - - - - . 10:93960733-93960733 T downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - rs12570608 4671 1 - HGNC HGNC:26607 - - 5 - - Ensembl - C C - - - 0.1569 - - - - - - - - - . 10:93960733-93960733 T non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 1183 - - - - rs12570608 - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - C C - - - 0.1569 - - - - - - - - - . 10:93960744-93960744 C non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 797 - - - - rs12571819 - -1 - HGNC HGNC:23733 - - - - - Ensembl - T T - - - 0.1693 - - - - - - - - - . 10:93960744-93960744 C non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene 1/1 - - - 797 - - - - rs12571819 - -1 - HGNC HGNC:23733 - - - - - Ensembl - T T - - - 0.1693 - - - - - - - - - . 10:93960744-93960744 C downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - rs12571819 4682 1 - HGNC HGNC:26607 - - 5 - - Ensembl - T T - - - 0.1693 - - - - - - - - - . 10:93960744-93960744 C non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 1172 - - - - rs12571819 - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - T T - - - 0.1693 - - - - - - - - - . 10:93960758-93960758 T non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 783 - - - - - - -1 - HGNC HGNC:23733 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:93960758-93960758 T non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene 1/1 - - - 783 - - - - - - -1 - HGNC HGNC:23733 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:93960758-93960758 T downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - - 4696 1 - HGNC HGNC:26607 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:93960758-93960758 T non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 1158 - - - - - - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:93960759-93960759 T non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000480546.1 processed_transcript 1/1 - - - 782 - - - - rs765316001 - -1 - HGNC HGNC:23733 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:93960759-93960759 T non_coding_transcript_exon_variant MODIFIER PIPSL ENSG00000180764 Transcript ENST00000489875.3 transcribed_processed_pseudogene 1/1 - - - 782 - - - - rs765316001 - -1 - HGNC HGNC:23733 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:93960759-93960759 T downstream_gene_variant MODIFIER SLC35G1 ENSG00000176273 Transcript ENST00000494992.5 nonsense_mediated_decay - - - - - - - - - rs765316001 4697 1 - HGNC HGNC:26607 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:93960759-93960759 T non_coding_transcript_exon_variant MODIFIER PIPSL 266971 Transcript NR_002319.2 transcribed_pseudogene 1/1 - - - 1157 - - - - rs765316001 - -1 - EntrezGene HGNC:23733 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:94355078-94355078 A missense_variant MODERATE NOC3L ENSG00000173145 Transcript ENST00000371361.3 protein_coding 6/21 - - - 682 581 194 P/L cCt/cTt rs12572897,COSV64929559 - -1 - HGNC HGNC:24034 NM_022451.11 - 1 P1 - Ensembl - G G - deleterious(0.03) benign(0.001) 0.2061 - 0,1 0,1 29206233 - - - - - . 10:94355078-94355078 A non_coding_transcript_exon_variant MODIFIER NOC3L ENSG00000173145 Transcript ENST00000463649.5 protein_coding_CDS_not_defined 5/10 - - - 1433 - - - - rs12572897,COSV64929559 - -1 - HGNC HGNC:24034 - - 2 - - Ensembl - G G - - - 0.2061 - 0,1 0,1 29206233 - - - - - . 10:94355078-94355078 A missense_variant MODERATE NOC3L 64318 Transcript NM_022451.11 protein_coding 6/21 - - - 682 581 194 P/L cCt/cTt rs12572897,COSV64929559 - -1 - EntrezGene HGNC:24034 ENST00000371361.3 - - - - RefSeq - G G - deleterious(0.03) benign(0.001) 0.2061 - 0,1 0,1 29206233 - - - - - . 10:94355078-94355078 A missense_variant MODERATE NOC3L 64318 Transcript XM_047425640.1 protein_coding 6/14 - - - 682 581 194 P/L cCt/cTt rs12572897,COSV64929559 - -1 - EntrezGene HGNC:24034 - - - - - RefSeq - G G - - - 0.2061 - 0,1 0,1 29206233 - - - - - . 10:94355078-94355078 A missense_variant MODERATE NOC3L 64318 Transcript XM_047425641.1 protein_coding 6/14 - - - 682 581 194 P/L cCt/cTt rs12572897,COSV64929559 - -1 - EntrezGene HGNC:24034 - - - - - RefSeq - G G - - - 0.2061 - 0,1 0,1 29206233 - - - - - . 10:94355078-94355078 A non_coding_transcript_exon_variant MODIFIER NOC3L 64318 Transcript XR_002957007.2 misc_RNA 6/22 - - - 682 - - - - rs12572897,COSV64929559 - -1 - EntrezGene HGNC:24034 - - - - - RefSeq - G G - - - 0.2061 - 0,1 0,1 29206233 - - - - - . 10:94355078-94355078 A non_coding_transcript_exon_variant MODIFIER NOC3L 64318 Transcript XR_007061982.1 misc_RNA 6/22 - - - 682 - - - - rs12572897,COSV64929559 - -1 - EntrezGene HGNC:24034 - - - - - RefSeq - G G - - - 0.2061 - 0,1 0,1 29206233 - - - - - . 10:94511541-94511541 C intron_variant MODIFIER TBC1D12 ENSG00000108239 Transcript ENST00000225235.5 protein_coding - 8/12 - - - - - - - rs2860761 - 1 - HGNC HGNC:29082 NM_015188.2 - 1 P1 - Ensembl - A A - - - 0.9924 - - - - - - - - - . 10:94511541-94511541 C intron_variant,non_coding_transcript_variant MODIFIER TBC1D12 ENSG00000108239 Transcript ENST00000485048.1 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2860761 - 1 - HGNC HGNC:29082 - - 2 - - Ensembl - A A - - - 0.9924 - - - - - - - - - . 10:94511541-94511541 C intron_variant MODIFIER TBC1D12 23232 Transcript NM_015188.2 protein_coding - 8/12 - - - - - - - rs2860761 - 1 - EntrezGene HGNC:29082 ENST00000225235.5 - - - - RefSeq - A A - - - 0.9924 - - - - - - - - - . 10:94511541-94511541 C intron_variant MODIFIER TBC1D12 23232 Transcript XM_006717732.5 protein_coding - 7/11 - - - - - - - rs2860761 - 1 - EntrezGene HGNC:29082 - - - - - RefSeq - A A - - - 0.9924 - - - - - - - - - . 10:94511541-94511541 C intron_variant MODIFIER TBC1D12 23232 Transcript XM_011539558.4 protein_coding - 8/12 - - - - - - - rs2860761 - 1 - EntrezGene HGNC:29082 - - - - - RefSeq - A A - - - 0.9924 - - - - - - - - - . 10:94511541-94511541 C intron_variant MODIFIER TBC1D12 23232 Transcript XM_017015998.3 protein_coding - 8/12 - - - - - - - rs2860761 - 1 - EntrezGene HGNC:29082 - - - - - RefSeq - A A - - - 0.9924 - - - - - - - - - . 10:94511541-94511541 C intron_variant MODIFIER TBC1D12 23232 Transcript XM_017015999.3 protein_coding - 7/11 - - - - - - - rs2860761 - 1 - EntrezGene HGNC:29082 - - - - - RefSeq - A A - - - 0.9924 - - - - - - - - - . 10:94511541-94511541 C intron_variant MODIFIER TBC1D12 23232 Transcript XM_047424905.1 protein_coding - 8/9 - - - - - - - rs2860761 - 1 - EntrezGene HGNC:29082 - - - - - RefSeq - A A - - - 0.9924 - - - - - - - - - . 10:94511541-94511541 C downstream_gene_variant MODIFIER TBC1D12 23232 Transcript XM_047424906.1 protein_coding - - - - - - - - - rs2860761 1825 1 - EntrezGene HGNC:29082 - - - - - RefSeq - A A - - - 0.9924 - - - - - - - - - . 10:94511541-94511541 C intron_variant MODIFIER TBC1D12 23232 Transcript XM_047424907.1 protein_coding - 7/11 - - - - - - - rs2860761 - 1 - EntrezGene HGNC:29082 - - - - - RefSeq - A A - - - 0.9924 - - - - - - - - - . 10:94511541-94511541 C downstream_gene_variant MODIFIER TBC1D12 23232 Transcript XR_945637.3 misc_RNA - - - - - - - - - rs2860761 1412 1 - EntrezGene HGNC:29082 - - - - - RefSeq - A A - - - 0.9924 - - - - - - - - - . 10:94554203-94554203 C synonymous_variant LOW HELLS ENSG00000119969 Transcript ENST00000348459.10 protein_coding 3/22 - - - 365 231 77 I atA/atC rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 NM_018063.5 - 1 P1 - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant,NMD_transcript_variant LOW HELLS ENSG00000119969 Transcript ENST00000371332.9 nonsense_mediated_decay 3/21 - - - 231 231 77 I atA/atC rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - 5 - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant LOW HELLS ENSG00000119969 Transcript ENST00000394036.6 protein_coding 3/23 - - - 231 231 77 I atA/atC rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - 1 - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant LOW HELLS ENSG00000119969 Transcript ENST00000394045.6 protein_coding 3/20 - - - 231 231 77 I atA/atC rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - 1 - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant LOW HELLS ENSG00000119969 Transcript ENST00000419900.6 protein_coding 3/22 - - - 779 183 61 I atA/atC rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - 3 - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C non_coding_transcript_exon_variant MODIFIER HELLS ENSG00000119969 Transcript ENST00000462057.2 protein_coding_CDS_not_defined 1/5 - - - 80 - - - - rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - 3 - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C non_coding_transcript_exon_variant MODIFIER HELLS ENSG00000119969 Transcript ENST00000475263.2 retained_intron 3/21 - - - 231 - - - - rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - 3 - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant,NMD_transcript_variant LOW HELLS ENSG00000119969 Transcript ENST00000630929.3 nonsense_mediated_decay 3/23 - - - 231 231 77 I atA/atC rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - 5 - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C non_coding_transcript_exon_variant MODIFIER HELLS ENSG00000119969 Transcript ENST00000698650.1 protein_coding_CDS_not_defined 2/6 - - - 200 - - - - rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - - - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C non_coding_transcript_exon_variant MODIFIER HELLS ENSG00000119969 Transcript ENST00000698651.1 retained_intron 3/12 - - - 365 - - - - rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - - - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER HELLS ENSG00000119969 Transcript ENST00000698673.1 nonsense_mediated_decay 3/6 - - - 386 - - - - rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - - - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant LOW HELLS ENSG00000119969 Transcript ENST00000698675.1 protein_coding 3/22 - - - 231 231 77 I atA/atC rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - - - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant LOW HELLS ENSG00000119969 Transcript ENST00000698799.1 protein_coding 3/20 - - - 231 231 77 I atA/atC rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - - - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant,NMD_transcript_variant LOW HELLS ENSG00000119969 Transcript ENST00000698800.1 nonsense_mediated_decay 3/21 - - - 231 231 77 I atA/atC rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - - - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant,NMD_transcript_variant LOW HELLS ENSG00000119969 Transcript ENST00000698830.1 nonsense_mediated_decay 3/22 - - - 231 231 77 I atA/atC rs11188019,COSV53294530 - 1 - HGNC HGNC:4861 - - - - - Ensembl - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant LOW HELLS 3070 Transcript NM_001289067.2 protein_coding 3/23 - - - 365 231 77 I atA/atC rs11188019,COSV53294530 - 1 - EntrezGene HGNC:4861 - - - - - RefSeq - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant LOW HELLS 3070 Transcript NM_001289068.2 protein_coding 3/22 - - - 320 183 61 I atA/atC rs11188019,COSV53294530 - 1 - EntrezGene HGNC:4861 - - - - - RefSeq - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant LOW HELLS 3070 Transcript NM_001289069.2 protein_coding 3/22 - - - 365 231 77 I atA/atC rs11188019,COSV53294530 - 1 - EntrezGene HGNC:4861 - - - - - RefSeq - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant LOW HELLS 3070 Transcript NM_001289070.2 protein_coding 3/20 - - - 365 231 77 I atA/atC rs11188019,COSV53294530 - 1 - EntrezGene HGNC:4861 - - - - - RefSeq - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C 5_prime_UTR_variant MODIFIER HELLS 3070 Transcript NM_001289071.2 protein_coding 3/23 - - - 365 - - - - rs11188019,COSV53294530 - 1 - EntrezGene HGNC:4861 - - - - - RefSeq - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant LOW HELLS 3070 Transcript NM_001289072.2 protein_coding 3/20 - - - 365 231 77 I atA/atC rs11188019,COSV53294530 - 1 - EntrezGene HGNC:4861 - - - - - RefSeq - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C 5_prime_UTR_variant MODIFIER HELLS 3070 Transcript NM_001289073.2 protein_coding 3/21 - - - 365 - - - - rs11188019,COSV53294530 - 1 - EntrezGene HGNC:4861 - - - - - RefSeq - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C 5_prime_UTR_variant MODIFIER HELLS 3070 Transcript NM_001289074.2 protein_coding 3/23 - - - 365 - - - - rs11188019,COSV53294530 - 1 - EntrezGene HGNC:4861 - - - - - RefSeq - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C 5_prime_UTR_variant MODIFIER HELLS 3070 Transcript NM_001289075.2 protein_coding 3/21 - - - 365 - - - - rs11188019,COSV53294530 - 1 - EntrezGene HGNC:4861 - - - - - RefSeq - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94554203-94554203 C synonymous_variant LOW HELLS 3070 Transcript NM_018063.5 protein_coding 3/22 - - - 365 231 77 I atA/atC rs11188019,COSV53294530 - 1 - EntrezGene HGNC:4861 ENST00000348459.10 - - - - RefSeq - A A - - - 0.5306 benign 0,1 1,1 - - - - - - . 10:94735295-94735295 T missense_variant MODERATE CYP2C18 ENSG00000108242 Transcript ENST00000285979.11 protein_coding 9/9 - - - 1415 1324 442 R/C Cgc/Tgc rs79500998,COSV53672529 - 1 - HGNC HGNC:2620 NM_000772.3 - 1 P1 - Ensembl - C C - deleterious_low_confidence(0.01) probably_damaging(0.986) 0.0006 - 0,1 0,1 24340040 - - - - - . 10:94735295-94735295 T missense_variant MODERATE CYP2C18 ENSG00000108242 Transcript ENST00000339022.6 protein_coding 8/8 - - - 1192 1147 383 R/C Cgc/Tgc rs79500998,COSV53672529 - 1 - HGNC HGNC:2620 - - 1 - - Ensembl - C C - deleterious(0.03) possibly_damaging(0.8) 0.0006 - 0,1 0,1 24340040 - - - - - . 10:94735295-94735295 T missense_variant MODERATE CYP2C18 1562 Transcript NM_000772.3 protein_coding 9/9 - - - 1415 1324 442 R/C Cgc/Tgc rs79500998,COSV53672529 - 1 - EntrezGene HGNC:2620 ENST00000285979.11 - - - - RefSeq - C C - deleterious_low_confidence(0.01) probably_damaging(0.986) 0.0006 - 0,1 0,1 24340040 - - - - - . 10:94735295-94735295 T missense_variant MODERATE CYP2C18 1562 Transcript NM_001128925.2 protein_coding 8/8 - - - 1238 1147 383 R/C Cgc/Tgc rs79500998,COSV53672529 - 1 - EntrezGene HGNC:2620 - - - - - RefSeq - C C - deleterious(0.03) possibly_damaging(0.8) 0.0006 - 0,1 0,1 24340040 - - - - - . 10:94762608-94762608 C upstream_gene_variant MODIFIER CYP2C19 ENSG00000165841 Transcript ENST00000371321.9 protein_coding - - - - - - - - - rs4986894,CR0910597 73 1 - HGNC HGNC:2621 NM_000769.4 - 1 P1 - Ensembl - T T - - - 0.2191 - - 1,1 24944790,18936436,26858644,19164093,30093869,30870275,23555028,24488700,24816252,21358751,23469989,29071720,23412869,30458875,24690327,23786029,30464886,33953602,35754834 - - - - - . 10:94762608-94762608 C upstream_gene_variant MODIFIER CYP2C19 ENSG00000165841 Transcript ENST00000480405.2 protein_coding - - - - - - - - - rs4986894,CR0910597 73 1 - HGNC HGNC:2621 - - 1 - - Ensembl - T T - - - 0.2191 - - 1,1 24944790,18936436,26858644,19164093,30093869,30870275,23555028,24488700,24816252,21358751,23469989,29071720,23412869,30458875,24690327,23786029,30464886,33953602,35754834 - - - - - . 10:94762608-94762608 C upstream_gene_variant MODIFIER CYP2C19 1557 Transcript NM_000769.4 protein_coding - - - - - - - - - rs4986894,CR0910597 73 1 - EntrezGene HGNC:2621 ENST00000371321.9 - - - - RefSeq - T T - - - 0.2191 - - 1,1 24944790,18936436,26858644,19164093,30093869,30870275,23555028,24488700,24816252,21358751,23469989,29071720,23412869,30458875,24690327,23786029,30464886,33953602,35754834 - - - - - . 10:94762804-94762804 T synonymous_variant LOW CYP2C19 ENSG00000165841 Transcript ENST00000371321.9 protein_coding 1/9 - - - 124 99 33 P ccC/ccT rs17885098 - 1 - HGNC HGNC:2621 NM_000769.4 - 1 P1 - Ensembl - C C - - - 0.9081 benign - 1 24944790,26858644,19164093,26785747,29681089,26988277,30870275,21358751,26781306,26799162,23412869,25495412,32820202,26722519,33519226,34195457,28361099,33569925,35300607,32623598 - - - - - . 10:94762804-94762804 T synonymous_variant LOW CYP2C19 ENSG00000165841 Transcript ENST00000480405.2 protein_coding 1/3 - - - 124 99 33 P ccC/ccT rs17885098 - 1 - HGNC HGNC:2621 - - 1 - - Ensembl - C C - - - 0.9081 benign - 1 24944790,26858644,19164093,26785747,29681089,26988277,30870275,21358751,26781306,26799162,23412869,25495412,32820202,26722519,33519226,34195457,28361099,33569925,35300607,32623598 - - - - - . 10:94762804-94762804 T synonymous_variant LOW CYP2C19 1557 Transcript NM_000769.4 protein_coding 1/9 - - - 124 99 33 P ccC/ccT rs17885098 - 1 - EntrezGene HGNC:2621 ENST00000371321.9 - - - - RefSeq - C C - - - 0.9081 benign - 1 24944790,26858644,19164093,26785747,29681089,26988277,30870275,21358751,26781306,26799162,23412869,25495412,32820202,26722519,33519226,34195457,28361099,33569925,35300607,32623598 - - - - - . 10:94781859-94781859 A synonymous_variant LOW CYP2C19 ENSG00000165841 Transcript ENST00000371321.9 protein_coding 5/9 - - - 706 681 227 P ccG/ccA rs4244285,CS941458,COSV64906812 - 1 - HGNC HGNC:2621 NM_000769.4 - 1 P1 - Ensembl - G G - - - 0.2214 likely_benign,drug_response,other 0,0,1 1,1,1 24944790,21708280,23766564,28652652,17048007,22992668,25266489,26091847,27233804,31361092,29193749,29623639,29407631,22569204,26858644,25126975,19164093,26263974,18547414,30356105,20847277,26801900,26785747,29681089,29482947,30093869,31821471,26773420,25419701,27981573,21998633,23300409,26961113,20936101,25897256,28321040,27529241,26444257,20435227,30068618,27249515,27010727,23687222,22784880,27110117,27296832,28178648,29517409,23797323,26870959,27133299,28070995,29461866,30081812,30870275,30706164,20921971,30487649,27233747,29050321,29666902,22479249,21921273,23810503,21289622,21918509,27171561,28095090,29449662,31477036,31998606,31086207,24762860,21712189,23133420,23089684,28280103,19617466,21480951,22702493,23941071,25714468,30758238,24528284,28513222,28687336,21497341,19444287,19706858,21071160,21358751,26781306,26323597,8195181,9093256,11763000,12012142,12172336,15168101,15205367,15590749,16024198,16044105,16772608,17625515,17697139,17900275,18004210,18323861,18346178,18394438,18482659,18521743,18532997 - - - - - . 10:94781859-94781859 A non_coding_transcript_exon_variant MODIFIER CYP2C19 ENSG00000165841 Transcript ENST00000645461.1 retained_intron 4/7 - - - 1734 - - - - rs4244285,CS941458,COSV64906812 - 1 - HGNC HGNC:2621 - - - - - Ensembl - G G - - - 0.2214 likely_benign,drug_response,other 0,0,1 1,1,1 24944790,21708280,23766564,28652652,17048007,22992668,25266489,26091847,27233804,31361092,29193749,29623639,29407631,22569204,26858644,25126975,19164093,26263974,18547414,30356105,20847277,26801900,26785747,29681089,29482947,30093869,31821471,26773420,25419701,27981573,21998633,23300409,26961113,20936101,25897256,28321040,27529241,26444257,20435227,30068618,27249515,27010727,23687222,22784880,27110117,27296832,28178648,29517409,23797323,26870959,27133299,28070995,29461866,30081812,30870275,30706164,20921971,30487649,27233747,29050321,29666902,22479249,21921273,23810503,21289622,21918509,27171561,28095090,29449662,31477036,31998606,31086207,24762860,21712189,23133420,23089684,28280103,19617466,21480951,22702493,23941071,25714468,30758238,24528284,28513222,28687336,21497341,19444287,19706858,21071160,21358751,26781306,26323597,8195181,9093256,11763000,12012142,12172336,15168101,15205367,15590749,16024198,16044105,16772608,17625515,17697139,17900275,18004210,18323861,18346178,18394438,18482659,18521743,18532997 - - - - - . 10:94781859-94781859 A synonymous_variant LOW CYP2C19 1557 Transcript NM_000769.4 protein_coding 5/9 - - - 706 681 227 P ccG/ccA rs4244285,CS941458,COSV64906812 - 1 - EntrezGene HGNC:2621 ENST00000371321.9 - - - - RefSeq - G G - - - 0.2214 likely_benign,drug_response,other 0,0,1 1,1,1 24944790,21708280,23766564,28652652,17048007,22992668,25266489,26091847,27233804,31361092,29193749,29623639,29407631,22569204,26858644,25126975,19164093,26263974,18547414,30356105,20847277,26801900,26785747,29681089,29482947,30093869,31821471,26773420,25419701,27981573,21998633,23300409,26961113,20936101,25897256,28321040,27529241,26444257,20435227,30068618,27249515,27010727,23687222,22784880,27110117,27296832,28178648,29517409,23797323,26870959,27133299,28070995,29461866,30081812,30870275,30706164,20921971,30487649,27233747,29050321,29666902,22479249,21921273,23810503,21289622,21918509,27171561,28095090,29449662,31477036,31998606,31086207,24762860,21712189,23133420,23089684,28280103,19617466,21480951,22702493,23941071,25714468,30758238,24528284,28513222,28687336,21497341,19444287,19706858,21071160,21358751,26781306,26323597,8195181,9093256,11763000,12012142,12172336,15168101,15205367,15590749,16024198,16044105,16772608,17625515,17697139,17900275,18004210,18323861,18346178,18394438,18482659,18521743,18532997 - - - - - . 10:94820445-94820445 G intron_variant MODIFIER CYP2C19 ENSG00000165841 Transcript ENST00000371321.9 protein_coding - 5/8 - - - - - - - rs4417205,COSV64907197 - 1 - HGNC HGNC:2621 NM_000769.4 - 1 P1 - Ensembl - C C - - - 0.2286 - 0,1 0,1 24944790,17048007,26858644,19164093,30870275,23941071,21358751,26021325,26799162,19752777,24690327 - - - - - . 10:94820445-94820445 G intron_variant,non_coding_transcript_variant MODIFIER CYP2C19 ENSG00000165841 Transcript ENST00000645461.1 retained_intron - 4/6 - - - - - - - rs4417205,COSV64907197 - 1 - HGNC HGNC:2621 - - - - - Ensembl - C C - - - 0.2286 - 0,1 0,1 24944790,17048007,26858644,19164093,30870275,23941071,21358751,26021325,26799162,19752777,24690327 - - - - - . 10:94820445-94820445 G intron_variant MODIFIER CYP2C19 1557 Transcript NM_000769.4 protein_coding - 5/8 - - - - - - - rs4417205,COSV64907197 - 1 - EntrezGene HGNC:2621 ENST00000371321.9 - - - - RefSeq - C C - - - 0.2286 - 0,1 0,1 24944790,17048007,26858644,19164093,30870275,23941071,21358751,26021325,26799162,19752777,24690327 - - - - - . 10:94842865-94842865 T synonymous_variant LOW CYP2C19 ENSG00000165841 Transcript ENST00000371321.9 protein_coding 7/9 - - - 1015 990 330 V gtC/gtT rs3758580,COSV64906817 - 1 - HGNC HGNC:2621 NM_000769.4 - 1 P1 - Ensembl - C C - - - 0.2212 - 0,1 0,1 24944790,17048007,26858644,19164093,26785747,29681089,26870959,30870275,21071160,21358751,26781306,26021325,29071720,26799162,24690327,26722519,34026292,33519226,34195457,33569925,35280252,35646073,32623598,36453946,36211438 - - - - - . 10:94842865-94842865 T non_coding_transcript_exon_variant MODIFIER CYP2C19 ENSG00000165841 Transcript ENST00000645461.1 retained_intron 5/7 - - - 1901 - - - - rs3758580,COSV64906817 - 1 - HGNC HGNC:2621 - - - - - Ensembl - C C - - - 0.2212 - 0,1 0,1 24944790,17048007,26858644,19164093,26785747,29681089,26870959,30870275,21071160,21358751,26781306,26021325,29071720,26799162,24690327,26722519,34026292,33519226,34195457,33569925,35280252,35646073,32623598,36453946,36211438 - - - - - . 10:94842865-94842865 T synonymous_variant LOW CYP2C19 1557 Transcript NM_000769.4 protein_coding 7/9 - - - 1015 990 330 V gtC/gtT rs3758580,COSV64906817 - 1 - EntrezGene HGNC:2621 ENST00000371321.9 - - - - RefSeq - C C - - - 0.2212 - 0,1 0,1 24944790,17048007,26858644,19164093,26785747,29681089,26870959,30870275,21071160,21358751,26781306,26021325,29071720,26799162,24690327,26722519,34026292,33519226,34195457,33569925,35280252,35646073,32623598,36453946,36211438 - - - - - . 10:94842866-94842866 G missense_variant MODERATE CYP2C19 ENSG00000165841 Transcript ENST00000371321.9 protein_coding 7/9 - - - 1016 991 331 I/V Att/Gtt rs3758581,CM983294 - 1 - HGNC HGNC:2621 NM_000769.4 - 1 P1 - Ensembl - A A - tolerated_low_confidence(0.34) benign(0.007) 0.9515 benign - 1,1 26858644,19164093,30452466,28817838,30135636,21071160,21358751,26781306,26323597,27798644,29472822,24357089,29296778,26325438,26799162,23689943,30206299,23118231,28603633,25495412,32820202,32004414,32705966,33277594,26722519,32184647,33260705,33111871,34195457,28361099,35505645,35156024,36713839,32623598,34464454,36401149 - - - - - . 10:94842866-94842866 G non_coding_transcript_exon_variant MODIFIER CYP2C19 ENSG00000165841 Transcript ENST00000645461.1 retained_intron 5/7 - - - 1902 - - - - rs3758581,CM983294 - 1 - HGNC HGNC:2621 - - - - - Ensembl - A A - - - 0.9515 benign - 1,1 26858644,19164093,30452466,28817838,30135636,21071160,21358751,26781306,26323597,27798644,29472822,24357089,29296778,26325438,26799162,23689943,30206299,23118231,28603633,25495412,32820202,32004414,32705966,33277594,26722519,32184647,33260705,33111871,34195457,28361099,35505645,35156024,36713839,32623598,34464454,36401149 - - - - - . 10:94842866-94842866 G missense_variant MODERATE CYP2C19 1557 Transcript NM_000769.4 protein_coding 7/9 - - - 1016 991 331 I/V Att/Gtt rs3758581,CM983294 - 1 - EntrezGene HGNC:2621 ENST00000371321.9 - - - - RefSeq - A A - tolerated_low_confidence(0.34) benign(0.007) 0.9515 benign - 1,1 26858644,19164093,30452466,28817838,30135636,21071160,21358751,26781306,26323597,27798644,29472822,24357089,29296778,26325438,26799162,23689943,30206299,23118231,28603633,25495412,32820202,32004414,32705966,33277594,26722519,32184647,33260705,33111871,34195457,28361099,35505645,35156024,36713839,32623598,34464454,36401149 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000277982.9 protein_coding 16/31 - - - 1665 1638 546 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 1 - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000306402.10 protein_coding 15/26 - - - 1291 1065 355 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 1 - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000354106.7 protein_coding 14/28 - - - 1482 1482 494 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 5 - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000361941.7 protein_coding 16/31 - - - 1599 1572 524 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 1 P3 - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000371227.8 protein_coding 16/32 - - - 1624 1434 478 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 1 A2 - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000371239.5 protein_coding 12/25 - - - 969 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 5 - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000371241.5 protein_coding 11/21 - - - 942 942 314 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 5 A1 - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000371245.7 protein_coding 14/28 - - - 1254 1227 409 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 1 - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000371246.6 protein_coding 18/33 - - - 1828 1638 546 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 5 - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000371247.7 protein_coding 18/33 - - - 1755 1572 524 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 NM_001034954.3 - 5 P3 - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000371249.6 protein_coding 15/25 - - - 1528 1338 446 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 1 A2 - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A downstream_gene_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000465489.1 protein_coding_CDS_not_defined - - - - - - - - - rs2274490,COSV53354801 2285 -1 - HGNC HGNC:14565 - - 3 - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A non_coding_transcript_exon_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000472854.5 protein_coding_CDS_not_defined 3/3 - - - 212 - - - - rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 2 - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A non_coding_transcript_exon_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000474353.6 protein_coding_CDS_not_defined 15/21 - - - 2213 - - - - rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 2 - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000607232.5 protein_coding 13/27 - - - 1106 939 313 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - 5 - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000634504.1 protein_coding 2/14 - - - 158 159 53 D gaC/gaT rs2274490,COSV53354801 - -1 cds_start_NF HGNC HGNC:14565 - - 2 - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000647619.2 protein_coding 10/22 - - - 883 885 295 D gaC/gaT rs2274490,COSV53354801 - -1 cds_start_NF HGNC HGNC:14565 - - - - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000649575.2 protein_coding 13/29 - - - 1146 942 314 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - - - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 ENSG00000095637 Transcript ENST00000649911.2 protein_coding 15/28 - - - 1296 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - HGNC HGNC:14565 - - - - - Ensembl - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001034954.3 protein_coding 18/33 - - - 1755 1572 524 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 ENST00000371247.7 - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001034955.2 protein_coding 16/31 - - - 1683 1638 546 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001034956.2 protein_coding 14/28 - - - 1272 1227 409 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001034957.3 protein_coding 13/24 - - - 1125 942 314 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001290294.2 protein_coding 16/32 - - - 1617 1434 478 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001290295.2 protein_coding 14/25 - - - 1152 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001290296.2 protein_coding 14/28 - - - 1527 1482 494 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001290297.3 protein_coding 14/27 - - - 1152 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001290298.3 protein_coding 16/28 - - - 1359 1176 392 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377197.1 protein_coding 16/28 - - - 1665 1482 494 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377198.1 protein_coding 16/28 - - - 1596 1413 471 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377199.1 protein_coding 16/27 - - - 1617 1434 478 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377200.1 protein_coding 15/27 - - - 1521 1338 446 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377201.1 protein_coding 15/26 - - - 1590 1407 469 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377202.1 protein_coding 14/25 - - - 1494 1311 437 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377203.1 protein_coding 16/28 - - - 1323 1140 380 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377204.1 protein_coding 14/28 - - - 1152 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377205.1 protein_coding 15/27 - - - 1296 1113 371 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377206.1 protein_coding 15/27 - - - 1248 1065 355 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377207.1 protein_coding 15/27 - - - 1227 1044 348 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377208.1 protein_coding 16/27 - - - 1323 1140 380 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001377209.1 protein_coding 14/26 - - - 1152 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384447.1 protein_coding 14/29 - - - 1152 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384448.1 protein_coding 13/29 - - - 1125 942 314 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384449.1 protein_coding 14/30 - - - 1152 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384450.1 protein_coding 14/29 - - - 1152 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384451.1 protein_coding 14/28 - - - 1152 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384452.1 protein_coding 14/30 - - - 1152 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384453.1 protein_coding 14/29 - - - 1152 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384454.1 protein_coding 15/30 - - - 1274 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384455.1 protein_coding 13/26 - - - 1066 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384456.1 protein_coding 15/28 - - - 1403 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384457.1 protein_coding 15/28 - - - 1274 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384458.1 protein_coding 16/30 - - - 1356 1173 391 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384459.1 protein_coding 18/30 - - - 1515 1332 444 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384460.1 protein_coding 17/29 - - - 1452 1269 423 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384461.1 protein_coding 16/28 - - - 1356 1173 391 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384462.1 protein_coding 15/27 - - - 1329 1146 382 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384463.1 protein_coding 17/27 - - - 1499 1194 398 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384464.1 protein_coding 15/26 - - - 1281 1098 366 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_001384465.1 protein_coding 17/28 - - - 1488 1305 435 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_006434.4 protein_coding 13/23 - - - 1125 942 314 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_015385.4 protein_coding 15/25 - - - 1521 1338 446 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript NM_024991.3 protein_coding 15/26 - - - 1248 1065 355 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_006717589.3 protein_coding 16/30 - - - 1665 1482 494 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_011539150.3 protein_coding 17/33 - - - 2334 2151 717 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015501.3 protein_coding 17/31 - - - 2334 2151 717 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015502.3 protein_coding 18/30 - - - 2409 2226 742 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015503.3 protein_coding 17/29 - - - 2334 2151 717 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015505.3 protein_coding 17/28 - - - 2334 2151 717 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015507.3 protein_coding 18/29 - - - 2409 2226 742 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015510.3 protein_coding 17/27 - - - 2334 2151 717 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015515.3 protein_coding 17/29 - - - 1692 1509 503 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015517.3 protein_coding 17/28 - - - 1692 1509 503 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015523.2 protein_coding 15/26 - - - 1521 1338 446 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015525.2 protein_coding 15/29 - - - 1227 1044 348 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015530.3 protein_coding 16/27 - - - 1323 1140 380 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015532.3 protein_coding 14/26 - - - 1221 1038 346 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015533.2 protein_coding 14/26 - - - 1200 1017 339 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015536.2 protein_coding 15/26 - - - 1227 1044 348 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015537.3 protein_coding 14/25 - - - 1221 1038 346 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015539.2 protein_coding 13/25 - - - 1125 942 314 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_017015540.2 protein_coding 14/25 - - - 1200 1017 339 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_047424468.1 protein_coding 17/28 - - - 2334 2151 717 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_047424469.1 protein_coding 16/28 - - - 1617 1434 478 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_047424470.1 protein_coding 15/27 - - - 1569 1386 462 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_047424471.1 protein_coding 14/26 - - - 1494 1311 437 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_047424472.1 protein_coding 16/26 - - - 1617 1434 478 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_047424473.1 protein_coding 15/26 - - - 1521 1338 446 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_047424474.1 protein_coding 15/25 - - - 1590 1407 469 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_047424475.1 protein_coding 14/24 - - - 1494 1311 437 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_047424476.1 protein_coding 15/26 - - - 1296 1113 371 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_047424477.1 protein_coding 15/25 - - - 1248 1065 355 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_047424478.1 protein_coding 14/24 - - - 1221 1038 346 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95381766-95381766 A synonymous_variant LOW SORBS1 10580 Transcript XM_047424479.1 protein_coding 14/24 - - - 1152 969 323 D gaC/gaT rs2274490,COSV53354801 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - G G - - - 0.5974 - 0,1 0,1 21300347,26962801,30002559 - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000277982.9 protein_coding - 11/30 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 1 - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000306402.10 protein_coding - 12/25 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 1 - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000354106.7 protein_coding - 10/27 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 5 - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000361941.7 protein_coding - 11/30 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 1 P3 - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000371227.8 protein_coding - 13/31 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 1 A2 - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000371239.5 protein_coding - 9/24 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 5 - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000371241.5 protein_coding - 8/20 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 5 A1 - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000371245.7 protein_coding - 11/27 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 1 - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000371246.6 protein_coding - 13/32 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 5 - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000371247.7 protein_coding - 13/32 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 NM_001034954.3 - 5 P3 - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000371249.6 protein_coding - 12/24 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 1 A2 - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant,non_coding_transcript_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000465489.1 protein_coding_CDS_not_defined - 5/6 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 3 - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant,non_coding_transcript_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000474353.6 protein_coding_CDS_not_defined - 12/20 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 2 - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C downstream_gene_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000486141.3 protein_coding - - - - - - - - - rs17110707,COSV53358267 1866 -1 cds_start_NF,cds_end_NF HGNC HGNC:14565 - - 3 - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000607232.5 protein_coding - 10/26 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - 5 - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000647619.2 protein_coding - 7/21 - - - - - - - rs17110707,COSV53358267 - -1 cds_start_NF HGNC HGNC:14565 - - - - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000649575.2 protein_coding - 10/28 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - - - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 ENSG00000095637 Transcript ENST00000649911.2 protein_coding - 12/27 - - - - - - - rs17110707,COSV53358267 - -1 - HGNC HGNC:14565 - - - - - Ensembl - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001034954.3 protein_coding - 13/32 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 ENST00000371247.7 - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001034955.2 protein_coding - 11/30 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001034956.2 protein_coding - 11/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001034957.3 protein_coding - 10/23 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001290294.2 protein_coding - 13/31 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001290295.2 protein_coding - 11/24 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001290296.2 protein_coding - 10/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001290297.3 protein_coding - 11/26 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001290298.3 protein_coding - 11/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377197.1 protein_coding - 12/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377198.1 protein_coding - 12/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377199.1 protein_coding - 13/26 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377200.1 protein_coding - 12/26 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377201.1 protein_coding - 12/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377202.1 protein_coding - 11/24 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377203.1 protein_coding - 12/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377204.1 protein_coding - 11/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377205.1 protein_coding - 11/26 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377206.1 protein_coding - 12/26 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377207.1 protein_coding - 11/26 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377208.1 protein_coding - 12/26 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001377209.1 protein_coding - 11/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384447.1 protein_coding - 11/28 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384448.1 protein_coding - 10/28 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384449.1 protein_coding - 11/29 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384450.1 protein_coding - 11/28 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384451.1 protein_coding - 11/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384452.1 protein_coding - 11/29 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384453.1 protein_coding - 11/28 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384454.1 protein_coding - 12/29 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384455.1 protein_coding - 10/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384456.1 protein_coding - 12/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384457.1 protein_coding - 12/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384458.1 protein_coding - 11/29 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384459.1 protein_coding - 12/29 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384460.1 protein_coding - 12/28 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384461.1 protein_coding - 11/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384462.1 protein_coding - 10/26 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384463.1 protein_coding - 13/26 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384464.1 protein_coding - 11/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_001384465.1 protein_coding - 11/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_006434.4 protein_coding - 10/22 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_015385.4 protein_coding - 12/24 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript NM_024991.3 protein_coding - 12/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_006717589.3 protein_coding - 12/29 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_011539150.3 protein_coding - 14/32 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015501.3 protein_coding - 14/30 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015502.3 protein_coding - 14/29 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015503.3 protein_coding - 14/28 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015505.3 protein_coding - 14/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015507.3 protein_coding - 14/28 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015510.3 protein_coding - 14/26 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015515.3 protein_coding - 13/28 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015517.3 protein_coding - 13/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015523.2 protein_coding - 12/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015525.2 protein_coding - 11/28 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015530.3 protein_coding - 12/26 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015532.3 protein_coding - 11/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015533.2 protein_coding - 10/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015536.2 protein_coding - 11/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015537.3 protein_coding - 11/24 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015539.2 protein_coding - 10/24 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_017015540.2 protein_coding - 10/24 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_047424468.1 protein_coding - 14/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_047424469.1 protein_coding - 13/27 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_047424470.1 protein_coding - 11/26 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_047424471.1 protein_coding - 11/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_047424472.1 protein_coding - 13/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_047424473.1 protein_coding - 12/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_047424474.1 protein_coding - 12/24 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_047424475.1 protein_coding - 11/23 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_047424476.1 protein_coding - 11/25 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_047424477.1 protein_coding - 12/24 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_047424478.1 protein_coding - 11/23 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95397151-95397151 C intron_variant MODIFIER SORBS1 10580 Transcript XM_047424479.1 protein_coding - 11/23 - - - - - - - rs17110707,COSV53358267 - -1 - EntrezGene HGNC:14565 - - - - - RefSeq - T T - - - 0.1805 - 0,1 0,1 - - - - - - . 10:95938613-95938613 T intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000416301.5 lncRNA - 2/5 - - - - - - - rs4918979 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T 3_prime_UTR_variant MODIFIER CC2D2B ENSG00000188649 Transcript ENST00000423344.6 protein_coding 8/8 - - - 1131 - - - - rs4918979 - 1 - HGNC HGNC:31666 - - 2 - - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000451364.5 lncRNA - 2/3 - - - - - - - rs4918979 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000452728.5 lncRNA - 3/5 - - - - - - - rs4918979 - -1 - HGNC HGNC:45203 - - 3 - - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000454638.5 lncRNA - 2/2 - - - - - - - rs4918979 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B ENSG00000188649 Transcript ENST00000636965.1 protein_coding 7/25 - - - 626 556 186 L Cta/Tta rs4918979 - 1 - HGNC HGNC:31666 - - 5 - - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B ENSG00000188649 Transcript ENST00000646931.3 protein_coding 8/35 - - - 686 580 194 L Cta/Tta rs4918979 - 1 - HGNC HGNC:31666 NM_001349008.3 - - P1 - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000656604.1 lncRNA - 2/2 - - - - - - - rs4918979 - -1 - HGNC HGNC:45203 - - - - - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T non_coding_transcript_exon_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000668038.1 lncRNA 4/4 - - - 1901 - - - - rs4918979 - -1 - HGNC HGNC:45203 - - - - - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000669711.1 lncRNA - 2/6 - - - - - - - rs4918979 - -1 - HGNC HGNC:45203 - - - - - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000671323.1 lncRNA - 5/6 - - - - - - - rs4918979 - -1 - HGNC HGNC:45203 - - - - - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000684888.1 lncRNA - 2/2 - - - - - - - rs4918979 - -1 - HGNC HGNC:45203 - - - - - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T downstream_gene_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000686747.1 lncRNA - - - - - - - - - rs4918979 1350 -1 - HGNC HGNC:45203 - - - - - Ensembl - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T 3_prime_UTR_variant MODIFIER CC2D2B 387707 Transcript NM_001130446.3 protein_coding 8/8 - - - 1121 - - - - rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B 387707 Transcript NM_001349008.3 protein_coding 8/35 - - - 686 580 194 L Cta/Tta rs4918979 - 1 - EntrezGene HGNC:31666 ENST00000646931.3 - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_038444.1 lncRNA - 2/5 - - - - - - - rs4918979 - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T intron_variant MODIFIER CC2D2B 387707 Transcript XM_011539789.4 protein_coding - 5/30 - - - - - - - rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B 387707 Transcript XM_024447995.2 protein_coding 8/35 - - - 694 580 194 L Cta/Tta rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B 387707 Transcript XM_024447996.2 protein_coding 9/36 - - - 742 556 186 L Cta/Tta rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B 387707 Transcript XM_024447998.2 protein_coding 8/34 - - - 686 580 194 L Cta/Tta rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B 387707 Transcript XM_024447999.2 protein_coding 8/34 - - - 686 580 194 L Cta/Tta rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B 387707 Transcript XM_024448001.2 protein_coding 8/34 - - - 686 580 194 L Cta/Tta rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B 387707 Transcript XM_024448002.2 protein_coding 8/33 - - - 686 580 194 L Cta/Tta rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B 387707 Transcript XM_024448003.2 protein_coding 8/33 - - - 686 580 194 L Cta/Tta rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B 387707 Transcript XM_024448004.2 protein_coding 8/32 - - - 686 580 194 L Cta/Tta rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B 387707 Transcript XM_024448005.2 protein_coding 8/29 - - - 686 580 194 L Cta/Tta rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T synonymous_variant LOW CC2D2B 387707 Transcript XM_024448006.2 protein_coding 8/25 - - - 686 580 194 L Cta/Tta rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T intron_variant MODIFIER CC2D2B 387707 Transcript XM_047425225.1 protein_coding - 1/26 - - - - - - - rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T non_coding_transcript_exon_variant MODIFIER CC2D2B 387707 Transcript XR_002956977.2 misc_RNA 8/26 - - - 686 - - - - rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T non_coding_transcript_exon_variant MODIFIER CC2D2B 387707 Transcript XR_002956978.2 misc_RNA 8/26 - - - 686 - - - - rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T non_coding_transcript_exon_variant MODIFIER CC2D2B 387707 Transcript XR_002956979.2 misc_RNA 8/26 - - - 686 - - - - rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95938613-95938613 T non_coding_transcript_exon_variant MODIFIER CC2D2B 387707 Transcript XR_002956980.2 misc_RNA 8/25 - - - 686 - - - - rs4918979 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - C C - - - 0.7652 - - - - - - - - - . 10:95988283-95988283 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000416301.5 lncRNA - 2/5 - - - - - - - rs7900838 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000451364.5 lncRNA - 2/3 - - - - - - - rs7900838 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000452728.5 lncRNA - 2/5 - - - - - - - rs7900838 - -1 - HGNC HGNC:45203 - - 3 - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000454638.5 lncRNA - 2/2 - - - - - - - rs7900838 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A downstream_gene_variant MODIFIER CC2D2B ENSG00000188649 Transcript ENST00000472454.6 nonsense_mediated_decay - - - - - - - - - rs7900838 3588 1 cds_start_NF HGNC HGNC:31666 - - 5 - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER CC2D2B ENSG00000188649 Transcript ENST00000475252.2 nonsense_mediated_decay 5/14 - - - 604 - - - - rs7900838 - 1 cds_start_NF HGNC HGNC:31666 - - 2 - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A intron_variant MODIFIER CC2D2B ENSG00000188649 Transcript ENST00000636965.1 protein_coding - 15/24 - - - - - - - rs7900838 - 1 - HGNC HGNC:31666 - - 5 - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B ENSG00000188649 Transcript ENST00000646931.3 protein_coding 20/35 - - - 2426 2320 774 V/I Gtt/Att rs7900838 - 1 - HGNC HGNC:31666 NM_001349008.3 - - P1 - Ensembl - G G - tolerated(1) benign(0.01) 0.6212 - - - - - - - - - . 10:95988283-95988283 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000656604.1 lncRNA - 2/2 - - - - - - - rs7900838 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000668038.1 lncRNA - 2/3 - - - - - - - rs7900838 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000669711.1 lncRNA - 2/6 - - - - - - - rs7900838 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000671323.1 lncRNA - 2/6 - - - - - - - rs7900838 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000684888.1 lncRNA - 2/2 - - - - - - - rs7900838 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000686747.1 lncRNA - 2/4 - - - - - - - rs7900838 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript NM_001349008.3 protein_coding 20/35 - - - 2426 2320 774 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 ENST00000646931.3 - - - - RefSeq - G G - tolerated(1) benign(0.01) 0.6212 - - - - - - - - - . 10:95988283-95988283 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_038444.1 lncRNA - 2/5 - - - - - - - rs7900838 - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_011539789.4 protein_coding 16/31 - - - 1865 1759 587 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_024447995.2 protein_coding 20/35 - - - 2434 2320 774 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - tolerated(1) benign(0.01) 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_024447996.2 protein_coding 21/36 - - - 2482 2296 766 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_024447998.2 protein_coding 20/34 - - - 2426 2320 774 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_024447999.2 protein_coding 19/34 - - - 2297 2191 731 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_024448001.2 protein_coding 20/34 - - - 2426 2320 774 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_024448002.2 protein_coding 20/33 - - - 2426 2320 774 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_024448003.2 protein_coding 20/33 - - - 2426 2320 774 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_024448004.2 protein_coding 17/32 - - - 1949 1843 615 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_024448005.2 protein_coding 20/29 - - - 2426 2320 774 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_024448006.2 protein_coding 20/25 - - - 2426 2320 774 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_047425225.1 protein_coding 12/27 - - - 1607 1489 497 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_047425226.1 protein_coding 11/26 - - - 1410 1312 438 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A missense_variant MODERATE CC2D2B 387707 Transcript XM_047425227.1 protein_coding 11/26 - - - 1474 1198 400 V/I Gtt/Att rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A non_coding_transcript_exon_variant MODIFIER CC2D2B 387707 Transcript XR_002956977.2 misc_RNA 20/26 - - - 2426 - - - - rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A non_coding_transcript_exon_variant MODIFIER CC2D2B 387707 Transcript XR_002956978.2 misc_RNA 20/26 - - - 2426 - - - - rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A non_coding_transcript_exon_variant MODIFIER CC2D2B 387707 Transcript XR_002956979.2 misc_RNA 20/26 - - - 2426 - - - - rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A non_coding_transcript_exon_variant MODIFIER CC2D2B 387707 Transcript XR_002956980.2 misc_RNA 20/25 - - - 2426 - - - - rs7900838 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001180803 enhancer - - - - - - - - - rs7900838 - - - - - - - - - - - - - - - - - 0.6212 - - - - - - - - - . 10:95988283-95988283 A TF_binding_site_variant MODIFIER - - MotifFeature ENSM00525274979 - - - - - - - - - - rs7900838 - -1 - - - - - - - - - - - - - - - 0.6212 - - - - ENSPFM0091 23 N -0.102 ETV2::EOMES,ETV2::TBX21,ELK1::EOMES,ELK1::TBX21,ETV5::EOMES,ERF::EOMES,ERF::TBX21 . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B ENSG00000188649 Transcript ENST00000344386.3 protein_coding - 7/8 - - - - - - - rs4918984,COSV100729530 - 1 - HGNC HGNC:31666 - - 1 - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B ENSG00000188649 Transcript ENST00000410012.6 protein_coding - 8/11 - - - - - - - rs4918984,COSV100729530 - 1 - HGNC HGNC:31666 - - 2 - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000416301.5 lncRNA - 2/5 - - - - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A downstream_gene_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000449197.1 lncRNA - - - - - - - - - rs4918984,COSV100729530 1754 -1 - HGNC HGNC:45203 - - 2 - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000451364.5 lncRNA - 2/3 - - - - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000452728.5 lncRNA - 2/5 - - - - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - 3 - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000454638.5 lncRNA - 2/2 - - - - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A non_coding_transcript_exon_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000458228.5 lncRNA 4/4 - - - 2470 - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - 1 - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,NMD_transcript_variant MODIFIER CC2D2B ENSG00000188649 Transcript ENST00000475252.2 nonsense_mediated_decay - 12/13 - - - - - - - rs4918984,COSV100729530 - 1 cds_start_NF HGNC HGNC:31666 - - 2 - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B ENSG00000188649 Transcript ENST00000636965.1 protein_coding - 23/24 - - - - - - - rs4918984,COSV100729530 - 1 - HGNC HGNC:31666 - - 5 - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B ENSG00000188649 Transcript ENST00000646931.3 protein_coding - 31/34 - - - - - - - rs4918984,COSV100729530 - 1 - HGNC HGNC:31666 NM_001349008.3 - - P1 - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000656604.1 lncRNA - 2/2 - - - - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000668038.1 lncRNA - 2/3 - - - - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000669711.1 lncRNA - 2/6 - - - - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000671323.1 lncRNA - 2/6 - - - - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000684888.1 lncRNA - 2/2 - - - - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000686747.1 lncRNA - 2/4 - - - - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A downstream_gene_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000691417.2 lncRNA - - - - - - - - - rs4918984,COSV100729530 1748 -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000693608.2 lncRNA - 2/2 - - - - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000701926.1 lncRNA - 3/3 - - - - - - - rs4918984,COSV100729530 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A downstream_gene_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000701996.1 lncRNA - - - - - - - - - rs4918984,COSV100729530 1754 -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript NM_001001732.4 protein_coding - 7/8 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript NM_001159747.2 protein_coding - 8/11 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript NM_001349008.3 protein_coding - 31/34 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 ENST00000646931.3 - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_038444.1 lncRNA - 2/5 - - - - - - - rs4918984,COSV100729530 - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A downstream_gene_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_134320.1 lncRNA - - - - - - - - - rs4918984,COSV100729530 1676 -1 - EntrezGene HGNC:45203 - - - - - RefSeq - G G OK - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A downstream_gene_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_134321.1 lncRNA - - - - - - - - - rs4918984,COSV100729530 1676 -1 - EntrezGene HGNC:45203 - - - - - RefSeq - G G OK - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A downstream_gene_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_134322.1 lncRNA - - - - - - - - - rs4918984,COSV100729530 1676 -1 - EntrezGene HGNC:45203 - - - - - RefSeq - G G OK - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_011539789.4 protein_coding - 27/30 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_024447995.2 protein_coding - 31/34 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_024447996.2 protein_coding - 32/35 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_024447998.2 protein_coding - 30/33 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_024447999.2 protein_coding - 30/33 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_024448001.2 protein_coding - 30/33 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_024448002.2 protein_coding - 31/32 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_024448003.2 protein_coding - 31/32 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_024448004.2 protein_coding - 28/31 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_024448005.2 protein_coding - 26/28 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_047425225.1 protein_coding - 23/26 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_047425226.1 protein_coding - 22/25 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant MODIFIER CC2D2B 387707 Transcript XM_047425227.1 protein_coding - 22/25 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96019524-96019524 A intron_variant,non_coding_transcript_variant MODIFIER CC2D2B 387707 Transcript XR_002956979.2 misc_RNA - 25/25 - - - - - - - rs4918984,COSV100729530 - 1 - EntrezGene HGNC:31666 - - - - - RefSeq - G G - - - 0.7045 - 0,1 0,1 - - - - - - . 10:96056845-96056845 C missense_variant MODERATE CCNJ ENSG00000107443 Transcript ENST00000265992.9 protein_coding 4/6 - - - 792 425 142 L/P cTc/cCc - - 1 - HGNC HGNC:23434 - - 1 - - Ensembl - T T - deleterious(0.01) probably_damaging(0.986) - - - - - - - - - - . 10:96056845-96056845 C missense_variant MODERATE CCNJ ENSG00000107443 Transcript ENST00000403870.7 protein_coding 4/6 - - - 792 425 142 L/P cTc/cCc - - 1 - HGNC HGNC:23434 - - 5 - - Ensembl - T T - deleterious(0.01) probably_damaging(0.977) - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000416301.5 lncRNA - 2/5 - - - - - - - - - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000427846.1 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000451364.5 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000452728.5 lncRNA - 2/5 - - - - - - - - - -1 - HGNC HGNC:45203 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000454638.5 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000458228.5 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:45203 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C missense_variant MODERATE CCNJ ENSG00000107443 Transcript ENST00000465148.3 protein_coding 4/6 - - - 603 425 142 L/P cTc/cCc - - 1 - HGNC HGNC:23434 NM_001134375.2 - 2 P1 - Ensembl - T T - deleterious(0.01) probably_damaging(0.984) - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000656604.1 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000668038.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000669711.1 lncRNA - 2/6 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000671323.1 lncRNA - 2/6 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000684888.1 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000686747.1 lncRNA - 2/4 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000691417.2 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000693608.2 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000701926.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000701996.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056845-96056845 C missense_variant MODERATE CCNJ 54619 Transcript NM_001134375.2 protein_coding 4/6 - - - 603 425 142 L/P cTc/cCc - - 1 - EntrezGene HGNC:23434 ENST00000465148.3 - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.984) - - - - - - - - - - . 10:96056845-96056845 C missense_variant MODERATE CCNJ 54619 Transcript NM_001134376.2 protein_coding 4/6 - - - 603 425 142 L/P cTc/cCc - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.977) - - - - - - - - - - . 10:96056845-96056845 C missense_variant MODERATE CCNJ 54619 Transcript NM_019084.5 protein_coding 4/6 - - - 603 425 142 L/P cTc/cCc - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.986) - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_038444.1 lncRNA - 2/5 - - - - - - - - - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_134320.1 lncRNA - 2/3 - - - - - - - - - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_134321.1 lncRNA - 2/2 - - - - - - - - - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:96056845-96056845 C intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_134322.1 lncRNA - 2/3 - - - - - - - - - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:96056845-96056845 C missense_variant MODERATE CCNJ 54619 Transcript XM_005269921.4 protein_coding 2/4 - - - 257 83 28 L/P cTc/cCc - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:96056845-96056845 C missense_variant MODERATE CCNJ 54619 Transcript XM_011539885.3 protein_coding 4/6 - - - 634 425 142 L/P cTc/cCc - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.984) - - - - - - - - - - . 10:96056845-96056845 C missense_variant MODERATE CCNJ 54619 Transcript XM_017016354.2 protein_coding 3/5 - - - 1236 569 190 L/P cTc/cCc - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:96056845-96056845 C missense_variant MODERATE CCNJ 54619 Transcript XM_017016355.2 protein_coding 3/5 - - - 468 425 142 L/P cTc/cCc - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.986) - - - - - - - - - - . 10:96056845-96056845 C missense_variant MODERATE CCNJ 54619 Transcript XM_017016356.2 protein_coding 3/5 - - - 1236 569 190 L/P cTc/cCc - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:96056845-96056845 C missense_variant MODERATE CCNJ 54619 Transcript XM_047425381.1 protein_coding 2/4 - - - 257 83 28 L/P cTc/cCc - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:96056896-96056896 A missense_variant MODERATE CCNJ ENSG00000107443 Transcript ENST00000265992.9 protein_coding 4/6 - - - 843 476 159 V/E gTa/gAa - - 1 - HGNC HGNC:23434 - - 1 - - Ensembl - T T - deleterious(0.01) probably_damaging(0.998) - - - - - - - - - - . 10:96056896-96056896 A missense_variant MODERATE CCNJ ENSG00000107443 Transcript ENST00000403870.7 protein_coding 4/6 - - - 843 476 159 V/E gTa/gAa - - 1 - HGNC HGNC:23434 - - 5 - - Ensembl - T T - deleterious(0.01) probably_damaging(0.997) - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000416301.5 lncRNA - 2/5 - - - - - - - - - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000427846.1 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000451364.5 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000452728.5 lncRNA - 2/5 - - - - - - - - - -1 - HGNC HGNC:45203 - - 3 - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000454638.5 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000458228.5 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:45203 - - 1 - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A missense_variant MODERATE CCNJ ENSG00000107443 Transcript ENST00000465148.3 protein_coding 4/6 - - - 654 476 159 V/E gTa/gAa - - 1 - HGNC HGNC:23434 NM_001134375.2 - 2 P1 - Ensembl - T T - deleterious(0.01) probably_damaging(0.998) - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000656604.1 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000668038.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000669711.1 lncRNA - 2/6 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000671323.1 lncRNA - 2/6 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000684888.1 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000686747.1 lncRNA - 2/4 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000691417.2 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000693608.2 lncRNA - 2/2 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000701926.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000701996.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:45203 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96056896-96056896 A missense_variant MODERATE CCNJ 54619 Transcript NM_001134375.2 protein_coding 4/6 - - - 654 476 159 V/E gTa/gAa - - 1 - EntrezGene HGNC:23434 ENST00000465148.3 - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.998) - - - - - - - - - - . 10:96056896-96056896 A missense_variant MODERATE CCNJ 54619 Transcript NM_001134376.2 protein_coding 4/6 - - - 654 476 159 V/E gTa/gAa - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.997) - - - - - - - - - - . 10:96056896-96056896 A missense_variant MODERATE CCNJ 54619 Transcript NM_019084.5 protein_coding 4/6 - - - 654 476 159 V/E gTa/gAa - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.998) - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_038444.1 lncRNA - 2/5 - - - - - - - - - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_134320.1 lncRNA - 2/3 - - - - - - - - - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_134321.1 lncRNA - 2/2 - - - - - - - - - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:96056896-96056896 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_134322.1 lncRNA - 2/3 - - - - - - - - - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - T T OK - - - - - - - - - - - - . 10:96056896-96056896 A missense_variant MODERATE CCNJ 54619 Transcript XM_005269921.4 protein_coding 2/4 - - - 308 134 45 V/E gTa/gAa - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:96056896-96056896 A missense_variant MODERATE CCNJ 54619 Transcript XM_011539885.3 protein_coding 4/6 - - - 685 476 159 V/E gTa/gAa - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.998) - - - - - - - - - - . 10:96056896-96056896 A missense_variant MODERATE CCNJ 54619 Transcript XM_017016354.2 protein_coding 3/5 - - - 1287 620 207 V/E gTa/gAa - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:96056896-96056896 A missense_variant MODERATE CCNJ 54619 Transcript XM_017016355.2 protein_coding 3/5 - - - 519 476 159 V/E gTa/gAa - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - deleterious(0.01) probably_damaging(0.998) - - - - - - - - - - . 10:96056896-96056896 A missense_variant MODERATE CCNJ 54619 Transcript XM_017016356.2 protein_coding 3/5 - - - 1287 620 207 V/E gTa/gAa - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:96056896-96056896 A missense_variant MODERATE CCNJ 54619 Transcript XM_047425381.1 protein_coding 2/4 - - - 308 134 45 V/E gTa/gAa - - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:96056901-96056901 A missense_variant MODERATE CCNJ ENSG00000107443 Transcript ENST00000265992.9 protein_coding 4/6 - - - 848 481 161 E/K Gaa/Aaa rs778391284,COSV99796294 - 1 - HGNC HGNC:23434 - - 1 - - Ensembl - G G - tolerated(0.08) possibly_damaging(0.589) - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A missense_variant MODERATE CCNJ ENSG00000107443 Transcript ENST00000403870.7 protein_coding 4/6 - - - 848 481 161 E/K Gaa/Aaa rs778391284,COSV99796294 - 1 - HGNC HGNC:23434 - - 5 - - Ensembl - G G - tolerated(0.08) possibly_damaging(0.453) - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000416301.5 lncRNA - 2/5 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000427846.1 lncRNA - 2/2 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000451364.5 lncRNA - 2/3 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000452728.5 lncRNA - 2/5 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - 3 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000454638.5 lncRNA - 2/2 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000458228.5 lncRNA - 2/3 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - 1 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A missense_variant MODERATE CCNJ ENSG00000107443 Transcript ENST00000465148.3 protein_coding 4/6 - - - 659 481 161 E/K Gaa/Aaa rs778391284,COSV99796294 - 1 - HGNC HGNC:23434 NM_001134375.2 - 2 P1 - Ensembl - G G - tolerated(0.08) possibly_damaging(0.453) - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000656604.1 lncRNA - 2/2 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000668038.1 lncRNA - 2/3 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000669711.1 lncRNA - 2/6 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000671323.1 lncRNA - 2/6 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000684888.1 lncRNA - 2/2 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000686747.1 lncRNA - 2/4 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000691417.2 lncRNA - 2/2 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000693608.2 lncRNA - 2/2 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000701926.1 lncRNA - 2/3 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 ENSG00000226688 Transcript ENST00000701996.1 lncRNA - 2/3 - - - - - - - rs778391284,COSV99796294 - -1 - HGNC HGNC:45203 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A missense_variant MODERATE CCNJ 54619 Transcript NM_001134375.2 protein_coding 4/6 - - - 659 481 161 E/K Gaa/Aaa rs778391284,COSV99796294 - 1 - EntrezGene HGNC:23434 ENST00000465148.3 - - - - RefSeq - G G - tolerated(0.08) possibly_damaging(0.453) - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A missense_variant MODERATE CCNJ 54619 Transcript NM_001134376.2 protein_coding 4/6 - - - 659 481 161 E/K Gaa/Aaa rs778391284,COSV99796294 - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - G G - tolerated(0.08) possibly_damaging(0.453) - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A missense_variant MODERATE CCNJ 54619 Transcript NM_019084.5 protein_coding 4/6 - - - 659 481 161 E/K Gaa/Aaa rs778391284,COSV99796294 - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - G G - tolerated(0.08) possibly_damaging(0.589) - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_038444.1 lncRNA - 2/5 - - - - - - - rs778391284,COSV99796294 - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_134320.1 lncRNA - 2/3 - - - - - - - rs778391284,COSV99796294 - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - G G OK - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_134321.1 lncRNA - 2/2 - - - - - - - rs778391284,COSV99796294 - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - G G OK - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A intron_variant,non_coding_transcript_variant MODIFIER ENTPD1-AS1 728558 Transcript NR_134322.1 lncRNA - 2/3 - - - - - - - rs778391284,COSV99796294 - -1 - EntrezGene HGNC:45203 - - - - - RefSeq - G G OK - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A missense_variant MODERATE CCNJ 54619 Transcript XM_005269921.4 protein_coding 2/4 - - - 313 139 47 E/K Gaa/Aaa rs778391284,COSV99796294 - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A missense_variant MODERATE CCNJ 54619 Transcript XM_011539885.3 protein_coding 4/6 - - - 690 481 161 E/K Gaa/Aaa rs778391284,COSV99796294 - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - G G - tolerated(0.08) possibly_damaging(0.453) - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A missense_variant MODERATE CCNJ 54619 Transcript XM_017016354.2 protein_coding 3/5 - - - 1292 625 209 E/K Gaa/Aaa rs778391284,COSV99796294 - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A missense_variant MODERATE CCNJ 54619 Transcript XM_017016355.2 protein_coding 3/5 - - - 524 481 161 E/K Gaa/Aaa rs778391284,COSV99796294 - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - G G - tolerated(0.08) possibly_damaging(0.589) - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A missense_variant MODERATE CCNJ 54619 Transcript XM_017016356.2 protein_coding 3/5 - - - 1292 625 209 E/K Gaa/Aaa rs778391284,COSV99796294 - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:96056901-96056901 A missense_variant MODERATE CCNJ 54619 Transcript XM_047425381.1 protein_coding 2/4 - - - 313 139 47 E/K Gaa/Aaa rs778391284,COSV99796294 - 1 - EntrezGene HGNC:23434 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A ENSG00000177853 Transcript ENST00000316045.10 protein_coding 6/6 - - - 3149 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - HGNC HGNC:29009 NM_001330736.2 - 1 P1 - Ensembl - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G intron_variant,non_coding_transcript_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000442635.2 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs11188637,COSV60151523 - 1 - HGNC HGNC:29009 - - 5 - - Ensembl - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G downstream_gene_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000488700.5 protein_coding_CDS_not_defined - - - - - - - - - rs11188637,COSV60151523 2544 1 - HGNC HGNC:29009 - - 2 - - Ensembl - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G non_coding_transcript_exon_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000534948.2 retained_intron 2/2 - - - 3072 - - - - rs11188637,COSV60151523 - 1 - HGNC HGNC:29009 - - 1 - - Ensembl - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G intron_variant,non_coding_transcript_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000563195.1 protein_coding_CDS_not_defined - 3/3 - - - - - - - rs11188637,COSV60151523 - 1 - HGNC HGNC:29009 - - 3 - - Ensembl - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A ENSG00000177853 Transcript ENST00000614149.2 protein_coding 6/6 - - - 3098 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - HGNC HGNC:29009 - - 5 P1 - Ensembl - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A ENSG00000177853 Transcript ENST00000624776.4 protein_coding 6/6 - - - 2805 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - HGNC HGNC:29009 - - 1 P1 - Ensembl - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript NM_001278524.2 protein_coding 7/7 - - - 3144 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript NM_001278525.2 protein_coding 6/6 - - - 2805 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript NM_001278526.2 protein_coding 7/7 - - - 1429 651 217 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript NM_001330732.2 protein_coding 6/6 - - - 2778 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript NM_001330733.1 protein_coding 7/7 - - - 3344 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript NM_001330734.1 protein_coding 7/7 - - - 3045 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript NM_001330735.1 protein_coding 6/6 - - - 3193 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript NM_001330736.2 protein_coding 6/6 - - - 3149 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 ENST00000316045.10 - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript NM_001330737.1 protein_coding 7/7 - - - 3220 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript NM_001330738.1 protein_coding 7/7 - - - 3313 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript NM_014803.4 protein_coding 6/6 - - - 3098 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G intron_variant,non_coding_transcript_variant MODIFIER ZNF518A 9849 Transcript NR_138482.1 misc_RNA - 3/4 - - - - - - - rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_011540406.3 protein_coding 7/7 - - - 2907 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_011540410.3 protein_coding 7/7 - - - 2929 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_011540413.4 protein_coding 7/7 - - - 3122 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_011540415.3 protein_coding 6/6 - - - 2756 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_011540419.3 protein_coding 5/5 - - - 2705 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_011540420.3 protein_coding 5/5 - - - 2732 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_017016986.2 protein_coding 7/7 - - - 3317 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_017016989.2 protein_coding 6/6 - - - 2783 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_017016994.3 protein_coding 6/6 - - - 2971 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_024448265.2 protein_coding 7/7 - - - 2934 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_024448267.2 protein_coding 7/7 - - - 3366 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_024448269.2 protein_coding 5/5 - - - 2920 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426044.1 protein_coding 7/7 - - - 3072 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426045.1 protein_coding 7/7 - - - 3339 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426046.1 protein_coding 7/7 - - - 3149 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426047.1 protein_coding 7/7 - - - 2895 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426048.1 protein_coding 7/7 - - - 2922 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426049.1 protein_coding 7/7 - - - 2956 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426050.1 protein_coding 6/6 - - - 2894 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426051.1 protein_coding 6/6 - - - 2921 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426052.1 protein_coding 6/6 - - - 2998 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426053.1 protein_coding 6/6 - - - 2744 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426054.1 protein_coding 6/6 - - - 3215 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426055.1 protein_coding 6/6 - - - 3188 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426056.1 protein_coding 7/7 - - - 3286 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426057.1 protein_coding 6/6 - - - 2771 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426058.1 protein_coding 7/7 - - - 3308 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426059.1 protein_coding 7/7 - - - 3067 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426060.1 protein_coding 6/6 - - - 2916 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426061.1 protein_coding 5/5 - - - 3115 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426062.1 protein_coding 6/6 - - - 3020 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426063.1 protein_coding 6/6 - - - 2993 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426064.1 protein_coding 7/7 - - - 3091 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426065.1 protein_coding 6/6 - - - 2793 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426066.1 protein_coding 5/5 - - - 3142 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426067.1 protein_coding 6/6 - - - 2766 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426068.1 protein_coding 5/5 - - - 2870 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426069.1 protein_coding 5/5 - - - 2843 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426070.1 protein_coding 5/5 - - - 2947 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426071.1 protein_coding 5/5 - - - 2693 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426072.1 protein_coding 5/5 - - - 2720 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96158563-96158563 G synonymous_variant LOW ZNF518A 9849 Transcript XM_047426073.1 protein_coding 3/3 - - - 3912 2241 747 K aaA/aaG rs11188637,COSV60151523 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A ENSG00000177853 Transcript ENST00000316045.10 protein_coding 6/6 - - - 3744 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - HGNC HGNC:29009 NM_001330736.2 - 1 P1 - Ensembl - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C intron_variant,non_coding_transcript_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000442635.2 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs3814228,COSV60151531 - 1 - HGNC HGNC:29009 - - 5 - - Ensembl - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C downstream_gene_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000488700.5 protein_coding_CDS_not_defined - - - - - - - - - rs3814228,COSV60151531 3139 1 - HGNC HGNC:29009 - - 2 - - Ensembl - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C non_coding_transcript_exon_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000534948.2 retained_intron 2/2 - - - 3667 - - - - rs3814228,COSV60151531 - 1 - HGNC HGNC:29009 - - 1 - - Ensembl - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C intron_variant,non_coding_transcript_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000563195.1 protein_coding_CDS_not_defined - 3/3 - - - - - - - rs3814228,COSV60151531 - 1 - HGNC HGNC:29009 - - 3 - - Ensembl - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A ENSG00000177853 Transcript ENST00000614149.2 protein_coding 6/6 - - - 3693 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - HGNC HGNC:29009 - - 5 P1 - Ensembl - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A ENSG00000177853 Transcript ENST00000624776.4 protein_coding 6/6 - - - 3400 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - HGNC HGNC:29009 - - 1 P1 - Ensembl - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript NM_001278524.2 protein_coding 7/7 - - - 3739 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript NM_001278525.2 protein_coding 6/6 - - - 3400 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript NM_001278526.2 protein_coding 7/7 - - - 2024 1246 416 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.06) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript NM_001330732.2 protein_coding 6/6 - - - 3373 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript NM_001330733.1 protein_coding 7/7 - - - 3939 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript NM_001330734.1 protein_coding 7/7 - - - 3640 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript NM_001330735.1 protein_coding 6/6 - - - 3788 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript NM_001330736.2 protein_coding 6/6 - - - 3744 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 ENST00000316045.10 - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript NM_001330737.1 protein_coding 7/7 - - - 3815 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript NM_001330738.1 protein_coding 7/7 - - - 3908 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript NM_014803.4 protein_coding 6/6 - - - 3693 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C intron_variant,non_coding_transcript_variant MODIFIER ZNF518A 9849 Transcript NR_138482.1 misc_RNA - 3/4 - - - - - - - rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_011540406.3 protein_coding 7/7 - - - 3502 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_011540410.3 protein_coding 7/7 - - - 3524 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_011540413.4 protein_coding 7/7 - - - 3717 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_011540415.3 protein_coding 6/6 - - - 3351 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_011540419.3 protein_coding 5/5 - - - 3300 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_011540420.3 protein_coding 5/5 - - - 3327 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_017016986.2 protein_coding 7/7 - - - 3912 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_017016989.2 protein_coding 6/6 - - - 3378 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_017016994.3 protein_coding 6/6 - - - 3566 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_024448265.2 protein_coding 7/7 - - - 3529 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_024448267.2 protein_coding 7/7 - - - 3961 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_024448269.2 protein_coding 5/5 - - - 3515 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426044.1 protein_coding 7/7 - - - 3667 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426045.1 protein_coding 7/7 - - - 3934 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426046.1 protein_coding 7/7 - - - 3744 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426047.1 protein_coding 7/7 - - - 3490 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426048.1 protein_coding 7/7 - - - 3517 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426049.1 protein_coding 7/7 - - - 3551 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426050.1 protein_coding 6/6 - - - 3489 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426051.1 protein_coding 6/6 - - - 3516 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426052.1 protein_coding 6/6 - - - 3593 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426053.1 protein_coding 6/6 - - - 3339 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426054.1 protein_coding 6/6 - - - 3810 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426055.1 protein_coding 6/6 - - - 3783 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426056.1 protein_coding 7/7 - - - 3881 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426057.1 protein_coding 6/6 - - - 3366 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426058.1 protein_coding 7/7 - - - 3903 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426059.1 protein_coding 7/7 - - - 3662 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426060.1 protein_coding 6/6 - - - 3511 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426061.1 protein_coding 5/5 - - - 3710 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426062.1 protein_coding 6/6 - - - 3615 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426063.1 protein_coding 6/6 - - - 3588 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426064.1 protein_coding 7/7 - - - 3686 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426065.1 protein_coding 6/6 - - - 3388 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426066.1 protein_coding 5/5 - - - 3737 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426067.1 protein_coding 6/6 - - - 3361 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426068.1 protein_coding 5/5 - - - 3465 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426069.1 protein_coding 5/5 - - - 3438 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426070.1 protein_coding 5/5 - - - 3542 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426071.1 protein_coding 5/5 - - - 3288 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426072.1 protein_coding 5/5 - - - 3315 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96159158-96159158 C missense_variant MODERATE ZNF518A 9849 Transcript XM_047426073.1 protein_coding 3/3 - - - 4507 2836 946 N/H Aac/Cac rs3814228,COSV60151531 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - tolerated(0.13) possibly_damaging(0.611) 0.0759 - 0,1 0,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A ENSG00000177853 Transcript ENST00000316045.10 protein_coding 6/6 - - - 4891 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - HGNC HGNC:29009 NM_001330736.2 - 1 P1 - Ensembl - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A intron_variant,non_coding_transcript_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000442635.2 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs3814226,COSV60150250,COSV60152637 - 1 - HGNC HGNC:29009 - - 5 - - Ensembl - G G - - - 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A downstream_gene_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000488700.5 protein_coding_CDS_not_defined - - - - - - - - - rs3814226,COSV60150250,COSV60152637 4286 1 - HGNC HGNC:29009 - - 2 - - Ensembl - G G - - - 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A non_coding_transcript_exon_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000534948.2 retained_intron 2/2 - - - 4814 - - - - rs3814226,COSV60150250,COSV60152637 - 1 - HGNC HGNC:29009 - - 1 - - Ensembl - G G - - - 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A intron_variant,non_coding_transcript_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000563195.1 protein_coding_CDS_not_defined - 3/3 - - - - - - - rs3814226,COSV60150250,COSV60152637 - 1 - HGNC HGNC:29009 - - 3 - - Ensembl - G G - - - 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A ENSG00000177853 Transcript ENST00000614149.2 protein_coding 6/6 - - - 4840 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - HGNC HGNC:29009 - - 5 P1 - Ensembl - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A ENSG00000177853 Transcript ENST00000624776.4 protein_coding 6/6 - - - 4547 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - HGNC HGNC:29009 - - 1 P1 - Ensembl - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript NM_001278524.2 protein_coding 7/7 - - - 4886 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript NM_001278525.2 protein_coding 6/6 - - - 4547 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript NM_001278526.2 protein_coding 7/7 - - - 3171 2393 798 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.02) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript NM_001330732.2 protein_coding 6/6 - - - 4520 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript NM_001330733.1 protein_coding 7/7 - - - 5086 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript NM_001330734.1 protein_coding 7/7 - - - 4787 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript NM_001330735.1 protein_coding 6/6 - - - 4935 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript NM_001330736.2 protein_coding 6/6 - - - 4891 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 ENST00000316045.10 - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript NM_001330737.1 protein_coding 7/7 - - - 4962 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript NM_001330738.1 protein_coding 7/7 - - - 5055 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript NM_014803.4 protein_coding 6/6 - - - 4840 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A intron_variant,non_coding_transcript_variant MODIFIER ZNF518A 9849 Transcript NR_138482.1 misc_RNA - 3/4 - - - - - - - rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - - - 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_011540406.3 protein_coding 7/7 - - - 4649 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_011540410.3 protein_coding 7/7 - - - 4671 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_011540413.4 protein_coding 7/7 - - - 4864 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_011540415.3 protein_coding 6/6 - - - 4498 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_011540419.3 protein_coding 5/5 - - - 4447 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_011540420.3 protein_coding 5/5 - - - 4474 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_017016986.2 protein_coding 7/7 - - - 5059 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_017016989.2 protein_coding 6/6 - - - 4525 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_017016994.3 protein_coding 6/6 - - - 4713 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_024448265.2 protein_coding 7/7 - - - 4676 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_024448267.2 protein_coding 7/7 - - - 5108 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_024448269.2 protein_coding 5/5 - - - 4662 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426044.1 protein_coding 7/7 - - - 4814 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426045.1 protein_coding 7/7 - - - 5081 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426046.1 protein_coding 7/7 - - - 4891 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426047.1 protein_coding 7/7 - - - 4637 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426048.1 protein_coding 7/7 - - - 4664 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426049.1 protein_coding 7/7 - - - 4698 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426050.1 protein_coding 6/6 - - - 4636 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426051.1 protein_coding 6/6 - - - 4663 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426052.1 protein_coding 6/6 - - - 4740 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426053.1 protein_coding 6/6 - - - 4486 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426054.1 protein_coding 6/6 - - - 4957 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426055.1 protein_coding 6/6 - - - 4930 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426056.1 protein_coding 7/7 - - - 5028 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426057.1 protein_coding 6/6 - - - 4513 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426058.1 protein_coding 7/7 - - - 5050 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426059.1 protein_coding 7/7 - - - 4809 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426060.1 protein_coding 6/6 - - - 4658 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426061.1 protein_coding 5/5 - - - 4857 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426062.1 protein_coding 6/6 - - - 4762 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426063.1 protein_coding 6/6 - - - 4735 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426064.1 protein_coding 7/7 - - - 4833 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426065.1 protein_coding 6/6 - - - 4535 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426066.1 protein_coding 5/5 - - - 4884 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426067.1 protein_coding 6/6 - - - 4508 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426068.1 protein_coding 5/5 - - - 4612 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426069.1 protein_coding 5/5 - - - 4585 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426070.1 protein_coding 5/5 - - - 4689 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426071.1 protein_coding 5/5 - - - 4435 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426072.1 protein_coding 5/5 - - - 4462 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96160305-96160305 A missense_variant MODERATE ZNF518A 9849 Transcript XM_047426073.1 protein_coding 3/3 - - - 5654 3983 1328 R/Q cGg/cAg rs3814226,COSV60150250,COSV60152637 - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - G G - deleterious(0.01) probably_damaging(0.941) 0.1358 - 0,1,1 0,1,1 - - - - - - . 10:96189877-96189877 G 3_prime_UTR_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000224337.10 protein_coding 17/17 - - - 3638 - - - - - - -1 - HGNC HGNC:14211 NM_013314.4 - 1 P2 - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000371176.7 protein_coding - - - - - - - - - - 1362 -1 - HGNC HGNC:14211 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000413476.6 protein_coding - - - - - - - - - - 1830 -1 - HGNC HGNC:14211 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000427367.6 protein_coding - - - - - - - - - - 1830 -1 - HGNC HGNC:14211 - - 1 - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G non_coding_transcript_exon_variant MODIFIER NPM1P25 ENSG00000229417 Transcript ENST00000429734.1 processed_pseudogene 1/1 - - - 343 - - - - - - -1 - HGNC HGNC:45204 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G intron_variant,non_coding_transcript_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000442635.2 protein_coding_CDS_not_defined - 1/2 - - - - - - - - - 1 - HGNC HGNC:29009 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000467799.7 nonsense_mediated_decay - - - - - - - - - - 1825 -1 - HGNC HGNC:14211 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G intron_variant,non_coding_transcript_variant MODIFIER ZNF518A ENSG00000177853 Transcript ENST00000563195.1 protein_coding_CDS_not_defined - 3/3 - - - - - - - - - 1 - HGNC HGNC:29009 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696248.1 protein_coding - - - - - - - - - - 2096 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696253.1 protein_coding - - - - - - - - - - 2096 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696255.1 nonsense_mediated_decay - - - - - - - - - - 2096 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696257.1 nonsense_mediated_decay - - - - - - - - - - 2096 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696513.1 protein_coding - - - - - - - - - - 1413 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696514.1 protein_coding - - - - - - - - - - 1822 -1 - HGNC HGNC:14211 - - - A1 - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696515.1 retained_intron - - - - - - - - - - 1864 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696516.1 nonsense_mediated_decay - - - - - - - - - - 2096 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696517.1 nonsense_mediated_decay - - - - - - - - - - 2096 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696518.1 nonsense_mediated_decay - - - - - - - - - - 2096 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696519.1 nonsense_mediated_decay - - - - - - - - - - 2096 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696521.1 nonsense_mediated_decay - - - - - - - - - - 2096 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696522.1 nonsense_mediated_decay - - - - - - - - - - 2096 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G downstream_gene_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696523.1 nonsense_mediated_decay - - - - - - - - - - 2096 -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:96189877-96189877 G 3_prime_UTR_variant MODIFIER BLNK 29760 Transcript NM_001114094.2 protein_coding 16/16 - - - 3569 - - - - - - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:96189877-96189877 G 3_prime_UTR_variant MODIFIER BLNK 29760 Transcript NM_001258440.2 protein_coding 16/16 - - - 3482 - - - - - - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:96189877-96189877 G 3_prime_UTR_variant MODIFIER BLNK 29760 Transcript NM_001258441.2 protein_coding 15/15 - - - 3413 - - - - - - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:96189877-96189877 G 3_prime_UTR_variant MODIFIER BLNK 29760 Transcript NM_001258442.2 protein_coding 14/14 - - - 3167 - - - - - - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:96189877-96189877 G 3_prime_UTR_variant MODIFIER BLNK 29760 Transcript NM_013314.4 protein_coding 17/17 - - - 3638 - - - - - - -1 - EntrezGene HGNC:14211 ENST00000224337.10 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:96189877-96189877 G non_coding_transcript_exon_variant MODIFIER BLNK 29760 Transcript NR_047680.2 misc_RNA 16/16 - - - 3462 - - - - - - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:96189877-96189877 G non_coding_transcript_exon_variant MODIFIER BLNK 29760 Transcript NR_047681.2 misc_RNA 15/15 - - - 3410 - - - - - - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:96189877-96189877 G non_coding_transcript_exon_variant MODIFIER BLNK 29760 Transcript NR_047682.2 misc_RNA 15/15 - - - 3405 - - - - - - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:96189877-96189877 G non_coding_transcript_exon_variant MODIFIER BLNK 29760 Transcript NR_047683.2 misc_RNA 14/14 - - - 3343 - - - - - - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:96189877-96189877 G intron_variant,non_coding_transcript_variant MODIFIER ZNF518A 9849 Transcript NR_138482.1 misc_RNA - 3/4 - - - - - - - - - 1 - EntrezGene HGNC:29009 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000224337.10 protein_coding - 1/16 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 NM_013314.4 - 1 P2 - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000371176.7 protein_coding - 1/15 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - 1 - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000413476.6 protein_coding - 1/15 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - 1 - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000427367.6 protein_coding - 1/13 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - 1 - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,NMD_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000467799.7 nonsense_mediated_decay - 1/15 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - 5 - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,non_coding_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000472763.2 retained_intron - 1/6 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - 3 - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000495266.2 protein_coding - 1/3 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - 5 - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696248.1 protein_coding - 1/12 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696253.1 protein_coding - 1/14 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,NMD_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696255.1 nonsense_mediated_decay - 1/12 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,NMD_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696257.1 nonsense_mediated_decay - 1/13 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696513.1 protein_coding - 1/17 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696514.1 protein_coding - 1/16 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - A1 - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,NMD_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696516.1 nonsense_mediated_decay - 1/14 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,NMD_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696517.1 nonsense_mediated_decay - 1/14 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,NMD_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696518.1 nonsense_mediated_decay - 1/13 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,NMD_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696519.1 nonsense_mediated_decay - 1/14 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,NMD_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696521.1 nonsense_mediated_decay - 1/15 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,NMD_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696522.1 nonsense_mediated_decay - 1/13 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,NMD_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696523.1 nonsense_mediated_decay - 1/12 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,NMD_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696524.1 nonsense_mediated_decay - 1/8 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,non_coding_transcript_variant MODIFIER BLNK ENSG00000095585 Transcript ENST00000696525.1 retained_intron - 1/5 - - - - - - - rs2168732,COSV56409708 - -1 - HGNC HGNC:14211 - - - - - Ensembl - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK 29760 Transcript NM_001114094.2 protein_coding - 1/15 - - - - - - - rs2168732,COSV56409708 - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK 29760 Transcript NM_001258440.2 protein_coding - 1/15 - - - - - - - rs2168732,COSV56409708 - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK 29760 Transcript NM_001258441.2 protein_coding - 1/14 - - - - - - - rs2168732,COSV56409708 - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK 29760 Transcript NM_001258442.2 protein_coding - 1/13 - - - - - - - rs2168732,COSV56409708 - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant MODIFIER BLNK 29760 Transcript NM_013314.4 protein_coding - 1/16 - - - - - - - rs2168732,COSV56409708 - -1 - EntrezGene HGNC:14211 ENST00000224337.10 - - - - RefSeq - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,non_coding_transcript_variant MODIFIER BLNK 29760 Transcript NR_047680.2 misc_RNA - 1/15 - - - - - - - rs2168732,COSV56409708 - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,non_coding_transcript_variant MODIFIER BLNK 29760 Transcript NR_047681.2 misc_RNA - 1/14 - - - - - - - rs2168732,COSV56409708 - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,non_coding_transcript_variant MODIFIER BLNK 29760 Transcript NR_047682.2 misc_RNA - 1/14 - - - - - - - rs2168732,COSV56409708 - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96247101-96247101 T intron_variant,non_coding_transcript_variant MODIFIER BLNK 29760 Transcript NR_047683.2 misc_RNA - 1/13 - - - - - - - rs2168732,COSV56409708 - -1 - EntrezGene HGNC:14211 - - - - - RefSeq - A A - - - 0.7015 benign 0,1 1,1 - - - - - - . 10:96318370-96318370 T synonymous_variant LOW DNTT ENSG00000107447 Transcript ENST00000371174.5 protein_coding 2/11 - - - 286 222 74 I atC/atT rs7081385 - 1 - HGNC HGNC:2983 NM_004088.4 - 1 P1 - Ensembl - C C - - - 0.9928 - - - - - - - - - . 10:96318370-96318370 T synonymous_variant LOW DNTT ENSG00000107447 Transcript ENST00000630152.1 protein_coding 2/11 - - - 311 222 74 I atC/atT rs7081385 - 1 - HGNC HGNC:2983 - - 1 - - Ensembl - C C - - - 0.9928 - - - - - - - - - . 10:96318370-96318370 T synonymous_variant LOW DNTT 1791 Transcript NM_001017520.2 protein_coding 2/11 - - - 286 222 74 I atC/atT rs7081385 - 1 - EntrezGene HGNC:2983 - - - - - RefSeq - C C - - - 0.9928 - - - - - - - - - . 10:96318370-96318370 T synonymous_variant LOW DNTT 1791 Transcript NM_004088.4 protein_coding 2/11 - - - 286 222 74 I atC/atT rs7081385 - 1 - EntrezGene HGNC:2983 ENST00000371174.5 - - - - RefSeq - C C - - - 0.9928 - - - - - - - - - . 10:96318482-96318482 G missense_variant MODERATE DNTT ENSG00000107447 Transcript ENST00000371174.5 protein_coding 2/11 - - - 398 334 112 R/G Aga/Gga rs6584066,COSV105293835 - 1 - HGNC HGNC:2983 NM_004088.4 - 1 P1 - Ensembl - A A - tolerated(0.53) - 0.9928 - 0,1 0,1 - - - - - - . 10:96318482-96318482 G missense_variant MODERATE DNTT ENSG00000107447 Transcript ENST00000630152.1 protein_coding 2/11 - - - 423 334 112 R/G Aga/Gga rs6584066,COSV105293835 - 1 - HGNC HGNC:2983 - - 1 - - Ensembl - A A - tolerated(0.55) - 0.9928 - 0,1 0,1 - - - - - - . 10:96318482-96318482 G missense_variant MODERATE DNTT 1791 Transcript NM_001017520.2 protein_coding 2/11 - - - 398 334 112 R/G Aga/Gga rs6584066,COSV105293835 - 1 - EntrezGene HGNC:2983 - - - - - RefSeq - A A - tolerated(0.55) - 0.9928 - 0,1 0,1 - - - - - - . 10:96318482-96318482 G missense_variant MODERATE DNTT 1791 Transcript NM_004088.4 protein_coding 2/11 - - - 398 334 112 R/G Aga/Gga rs6584066,COSV105293835 - 1 - EntrezGene HGNC:2983 ENST00000371174.5 - - - - RefSeq - A A - tolerated(0.53) - 0.9928 - 0,1 0,1 - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN ENSG00000197430 Transcript ENST00000371172.8 protein_coding - 2/5 - - - - - - - rs12572329 - -1 - HGNC HGNC:20707 NM_033207.5 - 1 P1 - Ensembl - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN ENSG00000197430 Transcript ENST00000393870.3 protein_coding - 1/4 - - - - - - - rs12572329 - -1 - HGNC HGNC:20707 - - 3 - - Ensembl - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN ENSG00000197430 Transcript ENST00000393871.5 protein_coding - 1/3 - - - - - - - rs12572329 - -1 - HGNC HGNC:20707 - - 2 - - Ensembl - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN ENSG00000197430 Transcript ENST00000419479.5 protein_coding - 2/4 - - - - - - - rs12572329 - -1 - HGNC HGNC:20707 - - 2 - - Ensembl - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN ENSG00000197430 Transcript ENST00000536387.5 protein_coding - 2/5 - - - - - - - rs12572329 - -1 - HGNC HGNC:20707 - - 3 - - Ensembl - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G upstream_gene_variant MODIFIER OPALIN ENSG00000197430 Transcript ENST00000611913.4 protein_coding - - - - - - - - - rs12572329 60 -1 - HGNC HGNC:20707 - - 5 - - Ensembl - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN 93377 Transcript NM_001040102.3 protein_coding - 1/3 - - - - - - - rs12572329 - -1 - EntrezGene HGNC:20707 - - - - - RefSeq - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN 93377 Transcript NM_001040103.3 protein_coding - 2/6 - - - - - - - rs12572329 - -1 - EntrezGene HGNC:20707 - - - - - RefSeq - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN 93377 Transcript NM_001284320.2 protein_coding - 2/4 - - - - - - - rs12572329 - -1 - EntrezGene HGNC:20707 - - - - - RefSeq - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN 93377 Transcript NM_001284321.2 protein_coding - 1/4 - - - - - - - rs12572329 - -1 - EntrezGene HGNC:20707 - - - - - RefSeq - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G 5_prime_UTR_variant MODIFIER OPALIN 93377 Transcript NM_001284322.2 protein_coding 3/7 - - - 159 - - - - rs12572329 - -1 - EntrezGene HGNC:20707 - - - - - RefSeq - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN 93377 Transcript NM_001284323.2 protein_coding - 2/6 - - - - - - - rs12572329 - -1 - EntrezGene HGNC:20707 - - - - - RefSeq - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN 93377 Transcript NM_001284324.2 protein_coding - 2/6 - - - - - - - rs12572329 - -1 - EntrezGene HGNC:20707 - - - - - RefSeq - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN 93377 Transcript NM_001284326.2 protein_coding - 2/5 - - - - - - - rs12572329 - -1 - EntrezGene HGNC:20707 - - - - - RefSeq - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN 93377 Transcript NM_001284327.2 protein_coding - 2/5 - - - - - - - rs12572329 - -1 - EntrezGene HGNC:20707 - - - - - RefSeq - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant MODIFIER OPALIN 93377 Transcript NM_033207.5 protein_coding - 2/5 - - - - - - - rs12572329 - -1 - EntrezGene HGNC:20707 ENST00000371172.8 - - - - RefSeq - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant,non_coding_transcript_variant MODIFIER OPALIN 93377 Transcript NR_104296.2 misc_RNA - 2/5 - - - - - - - rs12572329 - -1 - EntrezGene HGNC:20707 - - - - - RefSeq - A A - - - 0.2532 - - - - - - - - - . 10:96353515-96353515 G intron_variant,non_coding_transcript_variant MODIFIER OPALIN 93377 Transcript NR_104297.2 misc_RNA - 2/5 - - - - - - - rs12572329 - -1 - EntrezGene HGNC:20707 - - - - - RefSeq - A A - - - 0.2532 - - - - - - - - - . 10:96528035-96528035 T synonymous_variant LOW TM9SF3 ENSG00000077147 Transcript ENST00000371142.9 protein_coding 12/15 - - - 1714 1537 513 R Cgg/Agg rs12779720,COSV64457607,COSV64458255 - -1 - HGNC HGNC:21529 NM_020123.4 - 1 P1 - Ensembl - G G - - - 0.2324 - 0,1,1 0,1,1 - - - - - - . 10:96528035-96528035 T non_coding_transcript_exon_variant MODIFIER TM9SF3 ENSG00000077147 Transcript ENST00000485093.1 protein_coding_CDS_not_defined 1/4 - - - 139 - - - - rs12779720,COSV64457607,COSV64458255 - -1 - HGNC HGNC:21529 - - 5 - - Ensembl - G G - - - 0.2324 - 0,1,1 0,1,1 - - - - - - . 10:96528035-96528035 T non_coding_transcript_exon_variant MODIFIER TM9SF3 ENSG00000077147 Transcript ENST00000649367.1 protein_coding_CDS_not_defined 12/15 - - - 1875 - - - - rs12779720,COSV64457607,COSV64458255 - -1 - HGNC HGNC:21529 - - - - - Ensembl - G G - - - 0.2324 - 0,1,1 0,1,1 - - - - - - . 10:96528035-96528035 T synonymous_variant LOW TM9SF3 56889 Transcript NM_020123.4 protein_coding 12/15 - - - 1714 1537 513 R Cgg/Agg rs12779720,COSV64457607,COSV64458255 - -1 - EntrezGene HGNC:21529 ENST00000371142.9 - - - - RefSeq - G G - - - 0.2324 - 0,1,1 0,1,1 - - - - - - . 10:96528035-96528035 T synonymous_variant LOW TM9SF3 56889 Transcript XM_011539976.3 protein_coding 12/15 - - - 1989 1591 531 R Cgg/Agg rs12779720,COSV64457607,COSV64458255 - -1 - EntrezGene HGNC:21529 - - - - - RefSeq - G G - - - 0.2324 - 0,1,1 0,1,1 - - - - - - . 10:96609779-96609779 G synonymous_variant LOW PIK3AP1 ENSG00000155629 Transcript ENST00000339364.10 protein_coding 14/17 - - - 2223 2103 701 S agT/agC rs3748236,COSV59530437 - -1 - HGNC HGNC:30034 NM_152309.3 - 1 P1 - Ensembl - A A - - - 0.2680 benign 0,1 1,1 - - - - - - . 10:96609779-96609779 G synonymous_variant LOW PIK3AP1 ENSG00000155629 Transcript ENST00000371109.3 protein_coding 7/10 - - - 1082 900 300 S agT/agC rs3748236,COSV59530437 - -1 - HGNC HGNC:30034 - - 1 - - Ensembl - A A - - - 0.2680 benign 0,1 1,1 - - - - - - . 10:96609779-96609779 G synonymous_variant LOW PIK3AP1 ENSG00000155629 Transcript ENST00000371110.6 protein_coding 13/16 - - - 1754 1569 523 S agT/agC rs3748236,COSV59530437 - -1 - HGNC HGNC:30034 - - 2 - - Ensembl - A A - - - 0.2680 benign 0,1 1,1 - - - - - - . 10:96609779-96609779 G non_coding_transcript_exon_variant MODIFIER PIK3AP1 ENSG00000155629 Transcript ENST00000467625.5 protein_coding_CDS_not_defined 3/6 - - - 300 - - - - rs3748236,COSV59530437 - -1 - HGNC HGNC:30034 - - 3 - - Ensembl - A A - - - 0.2680 benign 0,1 1,1 - - - - - - . 10:96609779-96609779 G non_coding_transcript_exon_variant MODIFIER PIK3AP1 ENSG00000155629 Transcript ENST00000489982.1 protein_coding_CDS_not_defined 3/4 - - - 222 - - - - rs3748236,COSV59530437 - -1 - HGNC HGNC:30034 - - 3 - - Ensembl - A A - - - 0.2680 benign 0,1 1,1 - - - - - - . 10:96609779-96609779 G synonymous_variant LOW PIK3AP1 118788 Transcript NM_152309.3 protein_coding 14/17 - - - 2223 2103 701 S agT/agC rs3748236,COSV59530437 - -1 - EntrezGene HGNC:30034 ENST00000339364.10 - - - - RefSeq - A A - - - 0.2680 benign 0,1 1,1 - - - - - - . 10:96609779-96609779 G synonymous_variant LOW PIK3AP1 118788 Transcript XM_005269499.2 protein_coding 13/16 - - - 1715 1569 523 S agT/agC rs3748236,COSV59530437 - -1 - EntrezGene HGNC:30034 - - - - - RefSeq - A A - - - 0.2680 benign 0,1 1,1 - - - - - - . 10:96609779-96609779 G synonymous_variant LOW PIK3AP1 118788 Transcript XM_011539248.2 protein_coding 14/16 - - - 2223 2103 701 S agT/agC rs3748236,COSV59530437 - -1 - EntrezGene HGNC:30034 - - - - - RefSeq - A A - - - 0.2680 benign 0,1 1,1 - - - - - - . 10:96609779-96609779 G synonymous_variant LOW PIK3AP1 118788 Transcript XM_047424566.1 protein_coding 15/18 - - - 2304 1569 523 S agT/agC rs3748236,COSV59530437 - -1 - EntrezGene HGNC:30034 - - - - - RefSeq - A A - - - 0.2680 benign 0,1 1,1 - - - - - - . 10:96609779-96609779 G downstream_gene_variant MODIFIER LOC105378443 105378443 Transcript XR_946220.4 lncRNA - - - - - - - - - rs3748236,COSV59530437 2015 1 - EntrezGene - - - - - - RefSeq - A A - - - 0.2680 benign 0,1 1,1 - - - - - - . 10:96609779-96609779 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000412844 enhancer - - - - - - - - - rs3748236,COSV59530437 - - - - - - - - - - - - - - - - - 0.2680 benign 0,1 1,1 - - - - - - . 10:96620380-96620380 C missense_variant MODERATE PIK3AP1 ENSG00000155629 Transcript ENST00000339364.10 protein_coding 12/17 - - - 2033 1913 638 K/R aAa/aGa rs12784975,COSV59535559 - -1 - HGNC HGNC:30034 NM_152309.3 - 1 P1 - Ensembl - T T - tolerated(1) benign(0.01) 0.1573 benign 0,1 1,1 16385451,32888494,34469753 - - - - - . 10:96620380-96620380 C downstream_gene_variant MODIFIER RNA5SP324 ENSG00000202047 Transcript ENST00000365177.1 rRNA_pseudogene - - - - - - - - - rs12784975,COSV59535559 897 1 - HGNC HGNC:43224 - - - - - Ensembl - T T - - - 0.1573 benign 0,1 1,1 16385451,32888494,34469753 - - - - - . 10:96620380-96620380 C missense_variant MODERATE PIK3AP1 ENSG00000155629 Transcript ENST00000371109.3 protein_coding 5/10 - - - 892 710 237 K/R aAa/aGa rs12784975,COSV59535559 - -1 - HGNC HGNC:30034 - - 1 - - Ensembl - T T - tolerated(0.91) benign(0.025) 0.1573 benign 0,1 1,1 16385451,32888494,34469753 - - - - - . 10:96620380-96620380 C missense_variant MODERATE PIK3AP1 ENSG00000155629 Transcript ENST00000371110.6 protein_coding 11/16 - - - 1564 1379 460 K/R aAa/aGa rs12784975,COSV59535559 - -1 - HGNC HGNC:30034 - - 2 - - Ensembl - T T - tolerated(1) benign(0.01) 0.1573 benign 0,1 1,1 16385451,32888494,34469753 - - - - - . 10:96620380-96620380 C downstream_gene_variant MODIFIER RPS2P36 ENSG00000227032 Transcript ENST00000456516.1 processed_pseudogene - - - - - - - - - rs12784975,COSV59535559 497 -1 - HGNC HGNC:36784 - - - - - Ensembl - T T - - - 0.1573 benign 0,1 1,1 16385451,32888494,34469753 - - - - - . 10:96620380-96620380 C upstream_gene_variant MODIFIER PIK3AP1 ENSG00000155629 Transcript ENST00000467625.5 protein_coding_CDS_not_defined - - - - - - - - - rs12784975,COSV59535559 1592 -1 - HGNC HGNC:30034 - - 3 - - Ensembl - T T - - - 0.1573 benign 0,1 1,1 16385451,32888494,34469753 - - - - - . 10:96620380-96620380 C non_coding_transcript_exon_variant MODIFIER PIK3AP1 ENSG00000155629 Transcript ENST00000489982.1 protein_coding_CDS_not_defined 1/4 - - - 32 - - - - rs12784975,COSV59535559 - -1 - HGNC HGNC:30034 - - 3 - - Ensembl - T T - - - 0.1573 benign 0,1 1,1 16385451,32888494,34469753 - - - - - . 10:96620380-96620380 C missense_variant MODERATE PIK3AP1 118788 Transcript NM_152309.3 protein_coding 12/17 - - - 2033 1913 638 K/R aAa/aGa rs12784975,COSV59535559 - -1 - EntrezGene HGNC:30034 ENST00000339364.10 - - - - RefSeq - T T - tolerated(1) benign(0.01) 0.1573 benign 0,1 1,1 16385451,32888494,34469753 - - - - - . 10:96620380-96620380 C missense_variant MODERATE PIK3AP1 118788 Transcript XM_005269499.2 protein_coding 11/16 - - - 1525 1379 460 K/R aAa/aGa rs12784975,COSV59535559 - -1 - EntrezGene HGNC:30034 - - - - - RefSeq - T T - tolerated(1) benign(0.01) 0.1573 benign 0,1 1,1 16385451,32888494,34469753 - - - - - . 10:96620380-96620380 C missense_variant MODERATE PIK3AP1 118788 Transcript XM_011539248.2 protein_coding 12/16 - - - 2033 1913 638 K/R aAa/aGa rs12784975,COSV59535559 - -1 - EntrezGene HGNC:30034 - - - - - RefSeq - T T - - - 0.1573 benign 0,1 1,1 16385451,32888494,34469753 - - - - - . 10:96620380-96620380 C missense_variant MODERATE PIK3AP1 118788 Transcript XM_047424566.1 protein_coding 13/18 - - - 2114 1379 460 K/R aAa/aGa rs12784975,COSV59535559 - -1 - EntrezGene HGNC:30034 - - - - - RefSeq - T T - tolerated(1) benign(0.01) 0.1573 benign 0,1 1,1 16385451,32888494,34469753 - - - - - . 10:96620380-96620380 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000412849 enhancer - - - - - - - - - rs12784975,COSV59535559 - - - - - - - - - - - - - - - - - 0.1573 benign 0,1 1,1 16385451,32888494,34469753 - - - - - . 10:96623572-96623572 T intron_variant MODIFIER PIK3AP1 ENSG00000155629 Transcript ENST00000339364.10 protein_coding - 10/16 - - - - - - - rs4917745 - -1 - HGNC HGNC:30034 NM_152309.3 - 1 P1 - Ensembl - G G - - - 0.8918 - - - - - - - - - . 10:96623572-96623572 T downstream_gene_variant MODIFIER RNA5SP324 ENSG00000202047 Transcript ENST00000365177.1 rRNA_pseudogene - - - - - - - - - rs4917745 4089 1 - HGNC HGNC:43224 - - - - - Ensembl - G G - - - 0.8918 - - - - - - - - - . 10:96623572-96623572 T intron_variant MODIFIER PIK3AP1 ENSG00000155629 Transcript ENST00000371109.3 protein_coding - 3/9 - - - - - - - rs4917745 - -1 - HGNC HGNC:30034 - - 1 - - Ensembl - G G - - - 0.8918 - - - - - - - - - . 10:96623572-96623572 T intron_variant MODIFIER PIK3AP1 ENSG00000155629 Transcript ENST00000371110.6 protein_coding - 9/15 - - - - - - - rs4917745 - -1 - HGNC HGNC:30034 - - 2 - - Ensembl - G G - - - 0.8918 - - - - - - - - - . 10:96623572-96623572 T upstream_gene_variant MODIFIER RPS2P36 ENSG00000227032 Transcript ENST00000456516.1 processed_pseudogene - - - - - - - - - rs4917745 1865 -1 - HGNC HGNC:36784 - - - - - Ensembl - G G - - - 0.8918 - - - - - - - - - . 10:96623572-96623572 T upstream_gene_variant MODIFIER PIK3AP1 ENSG00000155629 Transcript ENST00000467625.5 protein_coding_CDS_not_defined - - - - - - - - - rs4917745 4784 -1 - HGNC HGNC:30034 - - 3 - - Ensembl - G G - - - 0.8918 - - - - - - - - - . 10:96623572-96623572 T downstream_gene_variant MODIFIER PIK3AP1 ENSG00000155629 Transcript ENST00000468783.1 protein_coding_CDS_not_defined - - - - - - - - - rs4917745 4826 -1 - HGNC HGNC:30034 - - 5 - - Ensembl - G G - - - 0.8918 - - - - - - - - - . 10:96623572-96623572 T upstream_gene_variant MODIFIER PIK3AP1 ENSG00000155629 Transcript ENST00000489982.1 protein_coding_CDS_not_defined - - - - - - - - - rs4917745 3161 -1 - HGNC HGNC:30034 - - 3 - - Ensembl - G G - - - 0.8918 - - - - - - - - - . 10:96623572-96623572 T intron_variant MODIFIER PIK3AP1 118788 Transcript NM_152309.3 protein_coding - 10/16 - - - - - - - rs4917745 - -1 - EntrezGene HGNC:30034 ENST00000339364.10 - - - - RefSeq - G G - - - 0.8918 - - - - - - - - - . 10:96623572-96623572 T intron_variant MODIFIER PIK3AP1 118788 Transcript XM_005269499.2 protein_coding - 9/15 - - - - - - - rs4917745 - -1 - EntrezGene HGNC:30034 - - - - - RefSeq - G G - - - 0.8918 - - - - - - - - - . 10:96623572-96623572 T intron_variant MODIFIER PIK3AP1 118788 Transcript XM_011539248.2 protein_coding - 10/15 - - - - - - - rs4917745 - -1 - EntrezGene HGNC:30034 - - - - - RefSeq - G G - - - 0.8918 - - - - - - - - - . 10:96623572-96623572 T intron_variant MODIFIER PIK3AP1 118788 Transcript XM_047424566.1 protein_coding - 11/17 - - - - - - - rs4917745 - -1 - EntrezGene HGNC:30034 - - - - - RefSeq - G G - - - 0.8918 - - - - - - - - - . 10:96750340-96750340 A non_coding_transcript_exon_variant MODIFIER RPL13AP5 ENSG00000236552 Transcript ENST00000439189.1 processed_pseudogene 1/1 - - - 53 - - - - - - 1 - HGNC HGNC:23736 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:96750340-96750340 A non_coding_transcript_exon_variant MODIFIER RPL13AP5 728658 Transcript NR_026712.1 transcribed_pseudogene 1/1 - - - 75 - - - - - - 1 - EntrezGene HGNC:23736 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:96750340-96750340 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000412876 CTCF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:96750396-96750396 T non_coding_transcript_exon_variant MODIFIER RPL13AP5 ENSG00000236552 Transcript ENST00000439189.1 processed_pseudogene 1/1 - - - 109 - - - - rs1054240392 - 1 - HGNC HGNC:23736 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:96750396-96750396 T non_coding_transcript_exon_variant MODIFIER RPL13AP5 728658 Transcript NR_026712.1 transcribed_pseudogene 1/1 - - - 131 - - - - rs1054240392 - 1 - EntrezGene HGNC:23736 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:96750396-96750396 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000412876 CTCF_binding_site - - - - - - - - - rs1054240392 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:96750401-96750401 C non_coding_transcript_exon_variant MODIFIER RPL13AP5 ENSG00000236552 Transcript ENST00000439189.1 processed_pseudogene 1/1 - - - 114 - - - - - - 1 - HGNC HGNC:23736 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96750401-96750401 C non_coding_transcript_exon_variant MODIFIER RPL13AP5 728658 Transcript NR_026712.1 transcribed_pseudogene 1/1 - - - 136 - - - - - - 1 - EntrezGene HGNC:23736 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:96750401-96750401 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000412876 CTCF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:96750552-96750552 A non_coding_transcript_exon_variant MODIFIER RPL13AP5 ENSG00000236552 Transcript ENST00000439189.1 processed_pseudogene 1/1 - - - 265 - - - - - - 1 - HGNC HGNC:23736 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:96750552-96750552 A non_coding_transcript_exon_variant MODIFIER RPL13AP5 728658 Transcript NR_026712.1 transcribed_pseudogene 1/1 - - - 287 - - - - - - 1 - EntrezGene HGNC:23736 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:96750552-96750552 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000412876 CTCF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:96750582-96750582 T non_coding_transcript_exon_variant MODIFIER RPL13AP5 ENSG00000236552 Transcript ENST00000439189.1 processed_pseudogene 1/1 - - - 295 - - - - - - 1 - HGNC HGNC:23736 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:96750582-96750582 T non_coding_transcript_exon_variant MODIFIER RPL13AP5 728658 Transcript NR_026712.1 transcribed_pseudogene 1/1 - - - 317 - - - - - - 1 - EntrezGene HGNC:23736 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:96750582-96750582 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000412876 CTCF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:96750590-96750590 C non_coding_transcript_exon_variant MODIFIER RPL13AP5 ENSG00000236552 Transcript ENST00000439189.1 processed_pseudogene 1/1 - - - 303 - - - - rs1311833344 - 1 - HGNC HGNC:23736 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:96750590-96750590 C non_coding_transcript_exon_variant MODIFIER RPL13AP5 728658 Transcript NR_026712.1 transcribed_pseudogene 1/1 - - - 325 - - - - rs1311833344 - 1 - EntrezGene HGNC:23736 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:96750590-96750590 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000412876 CTCF_binding_site - - - - - - - - - rs1311833344 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:96750665-96750665 T non_coding_transcript_exon_variant MODIFIER RPL13AP5 ENSG00000236552 Transcript ENST00000439189.1 processed_pseudogene 1/1 - - - 378 - - - - rs900247607 - 1 - HGNC HGNC:23736 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:96750665-96750665 T non_coding_transcript_exon_variant MODIFIER RPL13AP5 728658 Transcript NR_026712.1 transcribed_pseudogene 1/1 - - - 400 - - - - rs900247607 - 1 - EntrezGene HGNC:23736 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:96750716-96750716 T non_coding_transcript_exon_variant MODIFIER RPL13AP5 ENSG00000236552 Transcript ENST00000439189.1 processed_pseudogene 1/1 - - - 429 - - - - - - 1 - HGNC HGNC:23736 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:96750716-96750716 T non_coding_transcript_exon_variant MODIFIER RPL13AP5 728658 Transcript NR_026712.1 transcribed_pseudogene 1/1 - - - 451 - - - - - - 1 - EntrezGene HGNC:23736 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:96982264-96982264 T synonymous_variant LOW LCOR ENSG00000196233 Transcript ENST00000421806.4 protein_coding 8/8 - - - 2309 1804 602 L Ctg/Ttg rs7098255,COSV53715007 - 1 - HGNC HGNC:29503 NM_001346516.2 - 3 - - Ensembl - C C - - - 0.1400 - 0,1 0,1 - - - - - - . 10:96982264-96982264 T downstream_gene_variant MODIFIER LCOR ENSG00000196233 Transcript ENST00000675117.1 protein_coding - - - - - - - - - rs7098255,COSV53715007 223 1 cds_end_NF HGNC HGNC:29503 - - - - - Ensembl - C C - - - 0.1400 - 0,1 0,1 - - - - - - . 10:96982264-96982264 T synonymous_variant LOW LCOR 84458 Transcript NM_001346516.2 protein_coding 8/8 - - - 2309 1804 602 L Ctg/Ttg rs7098255,COSV53715007 - 1 - EntrezGene HGNC:29503 ENST00000421806.4 - - - - RefSeq - C C - - - 0.1400 - 0,1 0,1 - - - - - - . 10:96982848-96982848 T synonymous_variant LOW LCOR ENSG00000196233 Transcript ENST00000421806.4 protein_coding 8/8 - - - 2893 2388 796 L ctC/ctT rs3814163,COSV53715015 - 1 - HGNC HGNC:29503 NM_001346516.2 - 3 - - Ensembl - C C - - - 0.2065 - 0,1 0,1 - - - - - - . 10:96982848-96982848 T downstream_gene_variant MODIFIER LCOR ENSG00000196233 Transcript ENST00000675117.1 protein_coding - - - - - - - - - rs3814163,COSV53715015 807 1 cds_end_NF HGNC HGNC:29503 - - - - - Ensembl - C C - - - 0.2065 - 0,1 0,1 - - - - - - . 10:96982848-96982848 T synonymous_variant LOW LCOR 84458 Transcript NM_001346516.2 protein_coding 8/8 - - - 2893 2388 796 L ctC/ctT rs3814163,COSV53715015 - 1 - EntrezGene HGNC:29503 ENST00000421806.4 - - - - RefSeq - C C - - - 0.2065 - 0,1 0,1 - - - - - - . 10:97256331-97256331 C intron_variant MODIFIER ARHGAP19 ENSG00000213390 Transcript ENST00000358308.7 protein_coding - 5/10 - - - - - - - rs17112598,COSV57391973 - -1 - HGNC HGNC:23724 - - 1 - - Ensembl - T T - - - 0.0425 - 0,1 0,1 - - - - - - . 10:97256331-97256331 C missense_variant MODERATE ARHGAP19 ENSG00000213390 Transcript ENST00000358531.9 protein_coding 6/12 - - - 924 914 305 Q/R cAg/cGg rs17112598,COSV57391973 - -1 - HGNC HGNC:23724 NM_032900.6 - 1 P4 - Ensembl - T T - deleterious(0.01) possibly_damaging(0.644) 0.0425 - 0,1 0,1 - - - - - - . 10:97256331-97256331 C missense_variant MODERATE ARHGAP19 ENSG00000213390 Transcript ENST00000371027.5 protein_coding 6/12 - - - 917 887 296 Q/R cAg/cGg rs17112598,COSV57391973 - -1 - HGNC HGNC:23724 - - 2 A1 - Ensembl - T T - deleterious(0) possibly_damaging(0.536) 0.0425 - 0,1 0,1 - - - - - - . 10:97256331-97256331 C downstream_gene_variant MODIFIER ARHGAP19 ENSG00000213390 Transcript ENST00000466484.1 protein_coding - - - - - - - - - rs17112598,COSV57391973 3099 -1 cds_end_NF HGNC HGNC:23724 - - 3 - - Ensembl - T T - - - 0.0425 - 0,1 0,1 - - - - - - . 10:97256331-97256331 C intron_variant,non_coding_transcript_variant MODIFIER ARHGAP19 ENSG00000213390 Transcript ENST00000487035.1 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs17112598,COSV57391973 - -1 - HGNC HGNC:23724 - - 2 - - Ensembl - T T - - - 0.0425 - 0,1 0,1 - - - - - - . 10:97256331-97256331 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ARHGAP19 ENSG00000213390 Transcript ENST00000492211.5 nonsense_mediated_decay 7/13 - - - 1005 - - - - rs17112598,COSV57391973 - -1 cds_start_NF HGNC HGNC:23724 - - 2 - - Ensembl - T T - - - 0.0425 - 0,1 0,1 - - - - - - . 10:97256331-97256331 C intron_variant MODIFIER ARHGAP19 84986 Transcript NM_001204300.2 protein_coding - 5/10 - - - - - - - rs17112598,COSV57391973 - -1 - EntrezGene HGNC:23724 - - - - - RefSeq - T T - - - 0.0425 - 0,1 0,1 - - - - - - . 10:97256331-97256331 C missense_variant MODERATE ARHGAP19 84986 Transcript NM_001256423.2 protein_coding 6/12 - - - 910 887 296 Q/R cAg/cGg rs17112598,COSV57391973 - -1 - EntrezGene HGNC:23724 - - - - - RefSeq - T T - deleterious(0) possibly_damaging(0.536) 0.0425 - 0,1 0,1 - - - - - - . 10:97256331-97256331 C missense_variant MODERATE ARHGAP19 84986 Transcript NM_032900.6 protein_coding 6/12 - - - 924 914 305 Q/R cAg/cGg rs17112598,COSV57391973 - -1 - EntrezGene HGNC:23724 ENST00000358531.9 - - - - RefSeq - T T - deleterious(0.01) possibly_damaging(0.644) 0.0425 - 0,1 0,1 - - - - - - . 10:97256331-97256331 C non_coding_transcript_exon_variant MODIFIER ARHGAP19-SLIT1 100533184 Transcript NR_037909.1 lncRNA 6/15 - - - 960 - - - - rs17112598,COSV57391973 - -1 - EntrezGene HGNC:48348 - - - - - RefSeq - T T - - - 0.0425 - 0,1 0,1 - - - - - - . 10:97256331-97256331 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000948721 enhancer - - - - - - - - - rs17112598,COSV57391973 - - - - - - - - - - - - - - - - - 0.0425 - 0,1 0,1 - - - - - - . 10:97259420-97259420 G synonymous_variant LOW ARHGAP19 ENSG00000213390 Transcript ENST00000358308.7 protein_coding 5/11 - - - 868 822 274 H caT/caC rs2253301,COSV57391921 - -1 - HGNC HGNC:23724 - - 1 - - Ensembl - A A - - - 0.8444 - 0,1 0,1 - - - - - - . 10:97259420-97259420 G synonymous_variant LOW ARHGAP19 ENSG00000213390 Transcript ENST00000358531.9 protein_coding 5/12 - - - 832 822 274 H caT/caC rs2253301,COSV57391921 - -1 - HGNC HGNC:23724 NM_032900.6 - 1 P4 - Ensembl - A A - - - 0.8444 - 0,1 0,1 - - - - - - . 10:97259420-97259420 G synonymous_variant LOW ARHGAP19 ENSG00000213390 Transcript ENST00000371027.5 protein_coding 5/12 - - - 825 795 265 H caT/caC rs2253301,COSV57391921 - -1 - HGNC HGNC:23724 - - 2 A1 - Ensembl - A A - - - 0.8444 - 0,1 0,1 - - - - - - . 10:97259420-97259420 G downstream_gene_variant MODIFIER ARHGAP19 ENSG00000213390 Transcript ENST00000466484.1 protein_coding - - - - - - - - - rs2253301,COSV57391921 10 -1 cds_end_NF HGNC HGNC:23724 - - 3 - - Ensembl - A A - - - 0.8444 - 0,1 0,1 - - - - - - . 10:97259420-97259420 G upstream_gene_variant MODIFIER ARHGAP19 ENSG00000213390 Transcript ENST00000487035.1 protein_coding_CDS_not_defined - - - - - - - - - rs2253301,COSV57391921 2905 -1 - HGNC HGNC:23724 - - 2 - - Ensembl - A A - - - 0.8444 - 0,1 0,1 - - - - - - . 10:97259420-97259420 G synonymous_variant,NMD_transcript_variant LOW ARHGAP19 ENSG00000213390 Transcript ENST00000492211.5 nonsense_mediated_decay 5/13 - - - 818 819 273 H caT/caC rs2253301,COSV57391921 - -1 cds_start_NF HGNC HGNC:23724 - - 2 - - Ensembl - A A - - - 0.8444 - 0,1 0,1 - - - - - - . 10:97259420-97259420 G synonymous_variant LOW ARHGAP19 84986 Transcript NM_001204300.2 protein_coding 5/11 - - - 832 822 274 H caT/caC rs2253301,COSV57391921 - -1 - EntrezGene HGNC:23724 - - - - - RefSeq - A A - - - 0.8444 - 0,1 0,1 - - - - - - . 10:97259420-97259420 G synonymous_variant LOW ARHGAP19 84986 Transcript NM_001256423.2 protein_coding 5/12 - - - 818 795 265 H caT/caC rs2253301,COSV57391921 - -1 - EntrezGene HGNC:23724 - - - - - RefSeq - A A - - - 0.8444 - 0,1 0,1 - - - - - - . 10:97259420-97259420 G synonymous_variant LOW ARHGAP19 84986 Transcript NM_032900.6 protein_coding 5/12 - - - 832 822 274 H caT/caC rs2253301,COSV57391921 - -1 - EntrezGene HGNC:23724 ENST00000358531.9 - - - - RefSeq - A A - - - 0.8444 - 0,1 0,1 - - - - - - . 10:97259420-97259420 G non_coding_transcript_exon_variant MODIFIER ARHGAP19-SLIT1 100533184 Transcript NR_037909.1 lncRNA 5/15 - - - 868 - - - - rs2253301,COSV57391921 - -1 - EntrezGene HGNC:48348 - - - - - RefSeq - A A - - - 0.8444 - 0,1 0,1 - - - - - - . 10:97265854-97265854 A splice_donor_region_variant,intron_variant LOW ARHGAP19 ENSG00000213390 Transcript ENST00000358308.7 protein_coding - 2/10 - - - - - - - rs10882884,COSV57391935 - -1 - HGNC HGNC:23724 - - 1 - - Ensembl - T T - - - 0.5038 - 0,1 0,1 - - - - - - . 10:97265854-97265854 A splice_donor_region_variant,intron_variant LOW ARHGAP19 ENSG00000213390 Transcript ENST00000358531.9 protein_coding - 2/11 - - - - - - - rs10882884,COSV57391935 - -1 - HGNC HGNC:23724 NM_032900.6 - 1 P4 - Ensembl - T T - - - 0.5038 - 0,1 0,1 - - - - - - . 10:97265854-97265854 A splice_donor_region_variant,intron_variant LOW ARHGAP19 ENSG00000213390 Transcript ENST00000371027.5 protein_coding - 2/11 - - - - - - - rs10882884,COSV57391935 - -1 - HGNC HGNC:23724 - - 2 A1 - Ensembl - T T - - - 0.5038 - 0,1 0,1 - - - - - - . 10:97265854-97265854 A intron_variant MODIFIER ARHGAP19 ENSG00000213390 Transcript ENST00000466484.1 protein_coding - 2/4 - - - - - - - rs10882884,COSV57391935 - -1 cds_end_NF HGNC HGNC:23724 - - 3 - - Ensembl - T T - - - 0.5038 - 0,1 0,1 - - - - - - . 10:97265854-97265854 A splice_donor_region_variant,intron_variant,NMD_transcript_variant LOW ARHGAP19 ENSG00000213390 Transcript ENST00000492211.5 nonsense_mediated_decay - 2/12 - - - - - - - rs10882884,COSV57391935 - -1 cds_start_NF HGNC HGNC:23724 - - 2 - - Ensembl - T T - - - 0.5038 - 0,1 0,1 - - - - - - . 10:97265854-97265854 A non_coding_transcript_exon_variant MODIFIER ARHGAP19 ENSG00000213390 Transcript ENST00000493068.2 retained_intron 2/2 - - - 338 - - - - rs10882884,COSV57391935 - -1 - HGNC HGNC:23724 - - 2 - - Ensembl - T T - - - 0.5038 - 0,1 0,1 - - - - - - . 10:97265854-97265854 A splice_donor_region_variant,intron_variant LOW ARHGAP19 84986 Transcript NM_001204300.2 protein_coding - 2/10 - - - - - - - rs10882884,COSV57391935 - -1 - EntrezGene HGNC:23724 - - - - - RefSeq - T T - - - 0.5038 - 0,1 0,1 - - - - - - . 10:97265854-97265854 A splice_donor_region_variant,intron_variant LOW ARHGAP19 84986 Transcript NM_001256423.2 protein_coding - 2/11 - - - - - - - rs10882884,COSV57391935 - -1 - EntrezGene HGNC:23724 - - - - - RefSeq - T T - - - 0.5038 - 0,1 0,1 - - - - - - . 10:97265854-97265854 A splice_donor_region_variant,intron_variant LOW ARHGAP19 84986 Transcript NM_032900.6 protein_coding - 2/11 - - - - - - - rs10882884,COSV57391935 - -1 - EntrezGene HGNC:23724 ENST00000358531.9 - - - - RefSeq - T T - - - 0.5038 - 0,1 0,1 - - - - - - . 10:97265854-97265854 A splice_donor_region_variant,intron_variant,non_coding_transcript_variant LOW ARHGAP19-SLIT1 100533184 Transcript NR_037909.1 lncRNA - 2/14 - - - - - - - rs10882884,COSV57391935 - -1 - EntrezGene HGNC:48348 - - - - - RefSeq - T T - - - 0.5038 - 0,1 0,1 - - - - - - . 10:97379383-97379383 A synonymous_variant LOW RRP12 ENSG00000052749 Transcript ENST00000315563.10 protein_coding 12/31 - - - 1460 1408 470 L Ctg/Ttg rs41300217,COSV59665433 - -1 - HGNC HGNC:29100 - - 1 - - Ensembl - G G - - - 0.0597 - 0,1 0,1 - - - - - - . 10:97379383-97379383 A synonymous_variant LOW RRP12 ENSG00000052749 Transcript ENST00000370992.9 protein_coding 15/34 - - - 1817 1708 570 L Ctg/Ttg rs41300217,COSV59665433 - -1 - HGNC HGNC:29100 NM_015179.4 - 1 P1 - Ensembl - G G - - - 0.0597 - 0,1 0,1 - - - - - - . 10:97379383-97379383 A synonymous_variant LOW RRP12 ENSG00000052749 Transcript ENST00000414986.5 protein_coding 13/32 - - - 1664 1525 509 L Ctg/Ttg rs41300217,COSV59665433 - -1 - HGNC HGNC:29100 - - 2 - - Ensembl - G G - - - 0.0597 - 0,1 0,1 - - - - - - . 10:97379383-97379383 A non_coding_transcript_exon_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000490815.1 protein_coding_CDS_not_defined 2/5 - - - 71 - - - - rs41300217,COSV59665433 - -1 - HGNC HGNC:29100 - - 3 - - Ensembl - G G - - - 0.0597 - 0,1 0,1 - - - - - - . 10:97379383-97379383 A synonymous_variant LOW RRP12 ENSG00000052749 Transcript ENST00000536831.5 protein_coding 16/35 - - - 1897 1708 570 L Ctg/Ttg rs41300217,COSV59665433 - -1 - HGNC HGNC:29100 - - 5 P1 - Ensembl - G G - - - 0.0597 - 0,1 0,1 - - - - - - . 10:97379383-97379383 A synonymous_variant LOW RRP12 23223 Transcript NM_001145114.1 protein_coding 13/32 - - - 1664 1525 509 L Ctg/Ttg rs41300217,COSV59665433 - -1 - EntrezGene HGNC:29100 - - - - - RefSeq - G G OK - - 0.0597 - 0,1 0,1 - - - - - - . 10:97379383-97379383 A synonymous_variant LOW RRP12 23223 Transcript NM_001284337.2 protein_coding 12/31 - - - 1517 1408 470 L Ctg/Ttg rs41300217,COSV59665433 - -1 - EntrezGene HGNC:29100 - - - - - RefSeq - G G - - - 0.0597 - 0,1 0,1 - - - - - - . 10:97379383-97379383 A synonymous_variant LOW RRP12 23223 Transcript NM_015179.4 protein_coding 15/34 - - - 1817 1708 570 L Ctg/Ttg rs41300217,COSV59665433 - -1 - EntrezGene HGNC:29100 ENST00000370992.9 - - - - RefSeq - G G - - - 0.0597 - 0,1 0,1 - - - - - - . 10:97379383-97379383 A synonymous_variant LOW RRP12 23223 Transcript XM_011539556.3 protein_coding 15/26 - - - 1817 1708 570 L Ctg/Ttg rs41300217,COSV59665433 - -1 - EntrezGene HGNC:29100 - - - - - RefSeq - G G - - - 0.0597 - 0,1 0,1 - - - - - - . 10:97379383-97379383 A synonymous_variant LOW RRP12 23223 Transcript XM_047424903.1 protein_coding 14/33 - - - 1733 1624 542 L Ctg/Ttg rs41300217,COSV59665433 - -1 - EntrezGene HGNC:29100 - - - - - RefSeq - G G - - - 0.0597 - 0,1 0,1 - - - - - - . 10:97379383-97379383 A synonymous_variant LOW RRP12 23223 Transcript XM_047424904.1 protein_coding 15/20 - - - 1817 1708 570 L Ctg/Ttg rs41300217,COSV59665433 - -1 - EntrezGene HGNC:29100 - - - - - RefSeq - G G - - - 0.0597 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G intron_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000315563.10 protein_coding - 3/30 - - - - - - - rs41303833,COSV59666128 - -1 - HGNC HGNC:29100 - - 1 - - Ensembl - A A - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G intron_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000370992.9 protein_coding - 5/33 - - - - - - - rs41303833,COSV59666128 - -1 - HGNC HGNC:29100 NM_015179.4 - 1 P1 - Ensembl - A A - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G intron_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000414986.5 protein_coding - 3/31 - - - - - - - rs41303833,COSV59666128 - -1 - HGNC HGNC:29100 - - 2 - - Ensembl - A A - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G downstream_gene_variant MODIFIER RPL34P20 ENSG00000231508 Transcript ENST00000442771.1 processed_pseudogene - - - - - - - - - rs41303833,COSV59666128 2478 -1 - HGNC HGNC:35535 - - - - - Ensembl - A A - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000479317.1 retained_intron - - - - - - - - - rs41303833,COSV59666128 2203 -1 - HGNC HGNC:29100 - - 3 - - Ensembl - A A - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G intron_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000536831.5 protein_coding - 6/34 - - - - - - - rs41303833,COSV59666128 - -1 - HGNC HGNC:29100 - - 5 P1 - Ensembl - A A - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G downstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000618765.1 protein_coding - - - - - - - - - rs41303833,COSV59666128 2965 -1 cds_end_NF HGNC HGNC:29100 - - 1 - - Ensembl - A A - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G intron_variant MODIFIER RRP12 23223 Transcript NM_001145114.1 protein_coding - 3/31 - - - - - - - rs41303833,COSV59666128 - -1 - EntrezGene HGNC:29100 - - - - - RefSeq - A A OK - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G intron_variant MODIFIER RRP12 23223 Transcript NM_001284337.2 protein_coding - 3/30 - - - - - - - rs41303833,COSV59666128 - -1 - EntrezGene HGNC:29100 - - - - - RefSeq - A A - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G intron_variant MODIFIER RRP12 23223 Transcript NM_015179.4 protein_coding - 5/33 - - - - - - - rs41303833,COSV59666128 - -1 - EntrezGene HGNC:29100 ENST00000370992.9 - - - - RefSeq - A A - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G intron_variant MODIFIER RRP12 23223 Transcript XM_011539556.3 protein_coding - 5/25 - - - - - - - rs41303833,COSV59666128 - -1 - EntrezGene HGNC:29100 - - - - - RefSeq - A A - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G intron_variant MODIFIER RRP12 23223 Transcript XM_047424903.1 protein_coding - 4/32 - - - - - - - rs41303833,COSV59666128 - -1 - EntrezGene HGNC:29100 - - - - - RefSeq - A A - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G intron_variant MODIFIER RRP12 23223 Transcript XM_047424904.1 protein_coding - 5/19 - - - - - - - rs41303833,COSV59666128 - -1 - EntrezGene HGNC:29100 - - - - - RefSeq - A A - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97390719-97390719 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000948729 enhancer - - - - - - - - - rs41303833,COSV59666128 - - - - - - - - - - - - - - - - - 0.0589 - 0,1 0,1 - - - - - - . 10:97430960-97430960 T synonymous_variant LOW PGAM1 ENSG00000171314 Transcript ENST00000334828.6 protein_coding 3/4 - - - 537 420 140 R cgC/cgT - - 1 - HGNC HGNC:8888 NM_002629.4 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:97430960-97430960 T downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370902.8 protein_coding - - - - - - - - - - 4949 -1 - HGNC HGNC:17286 NM_016046.5 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:97430960-97430960 T upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000439965.6 protein_coding - - - - - - - - - - 4884 -1 cds_end_NF HGNC HGNC:29100 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:97430960-97430960 T non_coding_transcript_exon_variant MODIFIER PGAM1 ENSG00000171314 Transcript ENST00000467867.1 protein_coding_CDS_not_defined 3/4 - - - 676 - - - - - - 1 - HGNC HGNC:8888 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:97430960-97430960 T downstream_gene_variant MODIFIER PGAM1 ENSG00000171314 Transcript ENST00000473929.1 protein_coding_CDS_not_defined - - - - - - - - - - 3517 1 - HGNC HGNC:8888 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:97430960-97430960 T upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000536831.5 protein_coding - - - - - - - - - - 4886 -1 - HGNC HGNC:29100 - - 5 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:97430960-97430960 T upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000619048.1 protein_coding_CDS_not_defined - - - - - - - - - - 4886 -1 - HGNC HGNC:29100 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:97430960-97430960 T upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000621606.4 protein_coding_CDS_not_defined - - - - - - - - - - 4914 -1 - HGNC HGNC:29100 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:97430960-97430960 T upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000622320.4 protein_coding - - - - - - - - - - 4886 -1 cds_end_NF HGNC HGNC:29100 - - 4 - - Ensembl - C C - - - - - - - - - - - - - . 10:97430960-97430960 T synonymous_variant LOW PGAM1 5223 Transcript NM_001317079.2 protein_coding 3/4 - - - 392 375 125 R cgC/cgT - - 1 - EntrezGene HGNC:8888 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97430960-97430960 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318362.2 protein_coding - - - - - - - - - - 4949 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97430960-97430960 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318363.2 protein_coding - - - - - - - - - - 4949 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97430960-97430960 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318364.2 protein_coding - - - - - - - - - - 4949 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97430960-97430960 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318365.2 protein_coding - - - - - - - - - - 4949 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97430960-97430960 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318366.2 protein_coding - - - - - - - - - - 4949 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97430960-97430960 T synonymous_variant LOW PGAM1 5223 Transcript NM_002629.4 protein_coding 3/4 - - - 537 420 140 R cgC/cgT - - 1 - EntrezGene HGNC:8888 ENST00000334828.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97430960-97430960 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_016046.5 protein_coding - - - - - - - - - - 4949 -1 - EntrezGene HGNC:17286 ENST00000370902.8 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97430960-97430960 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NR_134586.2 misc_RNA - - - - - - - - - - 4949 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97430960-97430960 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NR_134587.2 misc_RNA - - - - - - - - - - 4949 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97430960-97430960 T upstream_gene_variant MODIFIER LOC644215 644215 Transcript NR_157582.1 lncRNA - - - - - - - - - - 4903 -1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97430960-97430960 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript XM_011539847.3 protein_coding - - - - - - - - - - 4949 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97430998-97430998 A missense_variant MODERATE PGAM1 ENSG00000171314 Transcript ENST00000334828.6 protein_coding 3/4 - - - 575 458 153 C/Y tGt/tAt rs755640412 - 1 - HGNC HGNC:8888 NM_002629.4 - 1 P1 - Ensembl - G G - deleterious_low_confidence(0.05) benign(0.011) - - - - - - - - - - . 10:97430998-97430998 A downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370902.8 protein_coding - - - - - - - - - rs755640412 4911 -1 - HGNC HGNC:17286 NM_016046.5 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:97430998-97430998 A upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000439965.6 protein_coding - - - - - - - - - rs755640412 4922 -1 cds_end_NF HGNC HGNC:29100 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:97430998-97430998 A non_coding_transcript_exon_variant MODIFIER PGAM1 ENSG00000171314 Transcript ENST00000467867.1 protein_coding_CDS_not_defined 3/4 - - - 714 - - - - rs755640412 - 1 - HGNC HGNC:8888 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:97430998-97430998 A downstream_gene_variant MODIFIER PGAM1 ENSG00000171314 Transcript ENST00000473929.1 protein_coding_CDS_not_defined - - - - - - - - - rs755640412 3555 1 - HGNC HGNC:8888 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:97430998-97430998 A upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000536831.5 protein_coding - - - - - - - - - rs755640412 4924 -1 - HGNC HGNC:29100 - - 5 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:97430998-97430998 A upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000619048.1 protein_coding_CDS_not_defined - - - - - - - - - rs755640412 4924 -1 - HGNC HGNC:29100 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:97430998-97430998 A upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000621606.4 protein_coding_CDS_not_defined - - - - - - - - - rs755640412 4952 -1 - HGNC HGNC:29100 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:97430998-97430998 A upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000622320.4 protein_coding - - - - - - - - - rs755640412 4924 -1 cds_end_NF HGNC HGNC:29100 - - 4 - - Ensembl - G G - - - - - - - - - - - - - . 10:97430998-97430998 A missense_variant MODERATE PGAM1 5223 Transcript NM_001317079.2 protein_coding 3/4 - - - 430 413 138 C/Y tGt/tAt rs755640412 - 1 - EntrezGene HGNC:8888 - - - - - RefSeq - G G - deleterious_low_confidence(0.03) benign(0.003) - - - - - - - - - - . 10:97430998-97430998 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318362.2 protein_coding - - - - - - - - - rs755640412 4911 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97430998-97430998 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318363.2 protein_coding - - - - - - - - - rs755640412 4911 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97430998-97430998 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318364.2 protein_coding - - - - - - - - - rs755640412 4911 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97430998-97430998 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318365.2 protein_coding - - - - - - - - - rs755640412 4911 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97430998-97430998 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318366.2 protein_coding - - - - - - - - - rs755640412 4911 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97430998-97430998 A missense_variant MODERATE PGAM1 5223 Transcript NM_002629.4 protein_coding 3/4 - - - 575 458 153 C/Y tGt/tAt rs755640412 - 1 - EntrezGene HGNC:8888 ENST00000334828.6 - - - - RefSeq - G G - deleterious_low_confidence(0.05) benign(0.011) - - - - - - - - - - . 10:97430998-97430998 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_016046.5 protein_coding - - - - - - - - - rs755640412 4911 -1 - EntrezGene HGNC:17286 ENST00000370902.8 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97430998-97430998 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NR_134586.2 misc_RNA - - - - - - - - - rs755640412 4911 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97430998-97430998 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NR_134587.2 misc_RNA - - - - - - - - - rs755640412 4911 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97430998-97430998 A upstream_gene_variant MODIFIER LOC644215 644215 Transcript NR_157582.1 lncRNA - - - - - - - - - rs755640412 4941 -1 - EntrezGene - - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97430998-97430998 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript XM_011539847.3 protein_coding - - - - - - - - - rs755640412 4911 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97431007-97431007 C missense_variant MODERATE PGAM1 ENSG00000171314 Transcript ENST00000334828.6 protein_coding 3/4 - - - 584 467 156 L/P cTg/cCg - - 1 - HGNC HGNC:8888 NM_002629.4 - 1 P1 - Ensembl - T T - deleterious_low_confidence(0.01) probably_damaging(1) - - - - - - - - - - . 10:97431007-97431007 C downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370902.8 protein_coding - - - - - - - - - - 4902 -1 - HGNC HGNC:17286 NM_016046.5 - 1 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:97431007-97431007 C upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000439965.6 protein_coding - - - - - - - - - - 4931 -1 cds_end_NF HGNC HGNC:29100 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:97431007-97431007 C non_coding_transcript_exon_variant MODIFIER PGAM1 ENSG00000171314 Transcript ENST00000467867.1 protein_coding_CDS_not_defined 3/4 - - - 723 - - - - - - 1 - HGNC HGNC:8888 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:97431007-97431007 C downstream_gene_variant MODIFIER PGAM1 ENSG00000171314 Transcript ENST00000473929.1 protein_coding_CDS_not_defined - - - - - - - - - - 3564 1 - HGNC HGNC:8888 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:97431007-97431007 C upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000536831.5 protein_coding - - - - - - - - - - 4933 -1 - HGNC HGNC:29100 - - 5 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:97431007-97431007 C upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000619048.1 protein_coding_CDS_not_defined - - - - - - - - - - 4933 -1 - HGNC HGNC:29100 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:97431007-97431007 C upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000621606.4 protein_coding_CDS_not_defined - - - - - - - - - - 4961 -1 - HGNC HGNC:29100 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:97431007-97431007 C upstream_gene_variant MODIFIER RRP12 ENSG00000052749 Transcript ENST00000622320.4 protein_coding - - - - - - - - - - 4933 -1 cds_end_NF HGNC HGNC:29100 - - 4 - - Ensembl - T T - - - - - - - - - - - - - . 10:97431007-97431007 C missense_variant MODERATE PGAM1 5223 Transcript NM_001317079.2 protein_coding 3/4 - - - 439 422 141 L/P cTg/cCg - - 1 - EntrezGene HGNC:8888 - - - - - RefSeq - T T - deleterious_low_confidence(0.01) probably_damaging(0.985) - - - - - - - - - - . 10:97431007-97431007 C downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318362.2 protein_coding - - - - - - - - - - 4902 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:97431007-97431007 C downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318363.2 protein_coding - - - - - - - - - - 4902 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:97431007-97431007 C downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318364.2 protein_coding - - - - - - - - - - 4902 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:97431007-97431007 C downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318365.2 protein_coding - - - - - - - - - - 4902 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:97431007-97431007 C downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318366.2 protein_coding - - - - - - - - - - 4902 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:97431007-97431007 C missense_variant MODERATE PGAM1 5223 Transcript NM_002629.4 protein_coding 3/4 - - - 584 467 156 L/P cTg/cCg - - 1 - EntrezGene HGNC:8888 ENST00000334828.6 - - - - RefSeq - T T - deleterious_low_confidence(0.01) probably_damaging(1) - - - - - - - - - - . 10:97431007-97431007 C downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_016046.5 protein_coding - - - - - - - - - - 4902 -1 - EntrezGene HGNC:17286 ENST00000370902.8 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:97431007-97431007 C downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NR_134586.2 misc_RNA - - - - - - - - - - 4902 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:97431007-97431007 C downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NR_134587.2 misc_RNA - - - - - - - - - - 4902 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:97431007-97431007 C upstream_gene_variant MODIFIER LOC644215 644215 Transcript NR_157582.1 lncRNA - - - - - - - - - - 4950 -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:97431007-97431007 C downstream_gene_variant MODIFIER EXOSC1 51013 Transcript XM_011539847.3 protein_coding - - - - - - - - - - 4902 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:97432467-97432467 G synonymous_variant LOW PGAM1 ENSG00000171314 Transcript ENST00000334828.6 protein_coding 4/4 - - - 825 708 236 E gaA/gaG - - 1 - HGNC HGNC:8888 NM_002629.4 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370884.5 protein_coding - - - - - - - - - - 3939 -1 cds_start_NF HGNC HGNC:17286 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370885.8 protein_coding - - - - - - - - - - 3781 -1 - HGNC HGNC:17286 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370886.9 protein_coding - - - - - - - - - - 3777 -1 - HGNC HGNC:17286 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370902.8 protein_coding - - - - - - - - - - 3442 -1 - HGNC HGNC:17286 NM_016046.5 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:97432467-97432467 G non_coding_transcript_exon_variant MODIFIER PGAM1 ENSG00000171314 Transcript ENST00000467867.1 protein_coding_CDS_not_defined 4/4 - - - 964 - - - - - - 1 - HGNC HGNC:8888 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000471049.5 protein_coding_CDS_not_defined - - - - - - - - - - 4073 -1 - HGNC HGNC:17286 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000472345.5 protein_coding_CDS_not_defined - - - - - - - - - - 4793 -1 - HGNC HGNC:17286 - - 3 - - Ensembl - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000477692.6 protein_coding - - - - - - - - - - 3929 -1 cds_start_NF HGNC HGNC:17286 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000485122.6 protein_coding - - - - - - - - - - 3866 -1 - HGNC HGNC:17286 - - 5 - - Ensembl - A A - - - - - - - - - - - - - . 10:97432467-97432467 G synonymous_variant LOW PGAM1 5223 Transcript NM_001317079.2 protein_coding 4/4 - - - 680 663 221 E gaA/gaG - - 1 - EntrezGene HGNC:8888 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318362.2 protein_coding - - - - - - - - - - 3442 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318363.2 protein_coding - - - - - - - - - - 3442 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318364.2 protein_coding - - - - - - - - - - 3442 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318365.2 protein_coding - - - - - - - - - - 3442 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318366.2 protein_coding - - - - - - - - - - 3442 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:97432467-97432467 G synonymous_variant LOW PGAM1 5223 Transcript NM_002629.4 protein_coding 4/4 - - - 825 708 236 E gaA/gaG - - 1 - EntrezGene HGNC:8888 ENST00000334828.6 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_016046.5 protein_coding - - - - - - - - - - 3442 -1 - EntrezGene HGNC:17286 ENST00000370902.8 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NR_134586.2 misc_RNA - - - - - - - - - - 3442 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NR_134587.2 misc_RNA - - - - - - - - - - 3442 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:97432467-97432467 G downstream_gene_variant MODIFIER EXOSC1 51013 Transcript XM_011539847.3 protein_coding - - - - - - - - - - 3442 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:97432569-97432569 T 3_prime_UTR_variant MODIFIER PGAM1 ENSG00000171314 Transcript ENST00000334828.6 protein_coding 4/4 - - - 927 - - - - rs781091486 - 1 - HGNC HGNC:8888 NM_002629.4 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370884.5 protein_coding - - - - - - - - - rs781091486 3837 -1 cds_start_NF HGNC HGNC:17286 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370885.8 protein_coding - - - - - - - - - rs781091486 3679 -1 - HGNC HGNC:17286 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370886.9 protein_coding - - - - - - - - - rs781091486 3675 -1 - HGNC HGNC:17286 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370902.8 protein_coding - - - - - - - - - rs781091486 3340 -1 - HGNC HGNC:17286 NM_016046.5 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:97432569-97432569 T non_coding_transcript_exon_variant MODIFIER PGAM1 ENSG00000171314 Transcript ENST00000467867.1 protein_coding_CDS_not_defined 4/4 - - - 1066 - - - - rs781091486 - 1 - HGNC HGNC:8888 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000471049.5 protein_coding_CDS_not_defined - - - - - - - - - rs781091486 3971 -1 - HGNC HGNC:17286 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000472345.5 protein_coding_CDS_not_defined - - - - - - - - - rs781091486 4691 -1 - HGNC HGNC:17286 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000477692.6 protein_coding - - - - - - - - - rs781091486 3827 -1 cds_start_NF HGNC HGNC:17286 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000485122.6 protein_coding - - - - - - - - - rs781091486 3764 -1 - HGNC HGNC:17286 - - 5 - - Ensembl - C C - - - - - - - - - - - - - . 10:97432569-97432569 T 3_prime_UTR_variant MODIFIER PGAM1 5223 Transcript NM_001317079.2 protein_coding 4/4 - - - 782 - - - - rs781091486 - 1 - EntrezGene HGNC:8888 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318362.2 protein_coding - - - - - - - - - rs781091486 3340 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318363.2 protein_coding - - - - - - - - - rs781091486 3340 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318364.2 protein_coding - - - - - - - - - rs781091486 3340 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318365.2 protein_coding - - - - - - - - - rs781091486 3340 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318366.2 protein_coding - - - - - - - - - rs781091486 3340 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97432569-97432569 T 3_prime_UTR_variant MODIFIER PGAM1 5223 Transcript NM_002629.4 protein_coding 4/4 - - - 927 - - - - rs781091486 - 1 - EntrezGene HGNC:8888 ENST00000334828.6 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_016046.5 protein_coding - - - - - - - - - rs781091486 3340 -1 - EntrezGene HGNC:17286 ENST00000370902.8 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NR_134586.2 misc_RNA - - - - - - - - - rs781091486 3340 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NR_134587.2 misc_RNA - - - - - - - - - rs781091486 3340 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97432569-97432569 T downstream_gene_variant MODIFIER EXOSC1 51013 Transcript XM_011539847.3 protein_coding - - - - - - - - - rs781091486 3340 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:97432570-97432570 A 3_prime_UTR_variant MODIFIER PGAM1 ENSG00000171314 Transcript ENST00000334828.6 protein_coding 4/4 - - - 928 - - - - rs747868063 - 1 - HGNC HGNC:8888 NM_002629.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370884.5 protein_coding - - - - - - - - - rs747868063 3836 -1 cds_start_NF HGNC HGNC:17286 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370885.8 protein_coding - - - - - - - - - rs747868063 3678 -1 - HGNC HGNC:17286 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370886.9 protein_coding - - - - - - - - - rs747868063 3674 -1 - HGNC HGNC:17286 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000370902.8 protein_coding - - - - - - - - - rs747868063 3339 -1 - HGNC HGNC:17286 NM_016046.5 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:97432570-97432570 A non_coding_transcript_exon_variant MODIFIER PGAM1 ENSG00000171314 Transcript ENST00000467867.1 protein_coding_CDS_not_defined 4/4 - - - 1067 - - - - rs747868063 - 1 - HGNC HGNC:8888 - - 2 - - Ensembl - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000471049.5 protein_coding_CDS_not_defined - - - - - - - - - rs747868063 3970 -1 - HGNC HGNC:17286 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000472345.5 protein_coding_CDS_not_defined - - - - - - - - - rs747868063 4690 -1 - HGNC HGNC:17286 - - 3 - - Ensembl - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000477692.6 protein_coding - - - - - - - - - rs747868063 3826 -1 cds_start_NF HGNC HGNC:17286 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 ENSG00000171311 Transcript ENST00000485122.6 protein_coding - - - - - - - - - rs747868063 3763 -1 - HGNC HGNC:17286 - - 5 - - Ensembl - G G - - - - - - - - - - - - - . 10:97432570-97432570 A 3_prime_UTR_variant MODIFIER PGAM1 5223 Transcript NM_001317079.2 protein_coding 4/4 - - - 783 - - - - rs747868063 - 1 - EntrezGene HGNC:8888 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318362.2 protein_coding - - - - - - - - - rs747868063 3339 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318363.2 protein_coding - - - - - - - - - rs747868063 3339 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318364.2 protein_coding - - - - - - - - - rs747868063 3339 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318365.2 protein_coding - - - - - - - - - rs747868063 3339 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_001318366.2 protein_coding - - - - - - - - - rs747868063 3339 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97432570-97432570 A 3_prime_UTR_variant MODIFIER PGAM1 5223 Transcript NM_002629.4 protein_coding 4/4 - - - 928 - - - - rs747868063 - 1 - EntrezGene HGNC:8888 ENST00000334828.6 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NM_016046.5 protein_coding - - - - - - - - - rs747868063 3339 -1 - EntrezGene HGNC:17286 ENST00000370902.8 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NR_134586.2 misc_RNA - - - - - - - - - rs747868063 3339 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript NR_134587.2 misc_RNA - - - - - - - - - rs747868063 3339 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97432570-97432570 A downstream_gene_variant MODIFIER EXOSC1 51013 Transcript XM_011539847.3 protein_coding - - - - - - - - - rs747868063 3339 -1 - EntrezGene HGNC:17286 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000327238.14 protein_coding - 15/28 - - - - - - - rs2236575,COSV59134377 - -1 - HGNC HGNC:13824 - - 5 - - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000355839.10 protein_coding - 16/29 - - - - - - - rs2236575,COSV59134377 - -1 - HGNC HGNC:13824 - - 1 - - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000370782.6 protein_coding - 18/31 - - - - - - - rs2236575,COSV59134377 - -1 - HGNC HGNC:13824 - - 1 P1 - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant,NMD_transcript_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000415383.5 nonsense_mediated_decay - 16/29 - - - - - - - rs2236575,COSV59134377 - -1 - HGNC HGNC:13824 - - 1 - - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A downstream_gene_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000422685.5 protein_coding - - - - - - - - - rs2236575,COSV59134377 4850 -1 cds_end_NF HGNC HGNC:13824 - - 5 - - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant,NMD_transcript_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000434392.5 nonsense_mediated_decay - 8/8 - - - - - - - rs2236575,COSV59134377 - -1 cds_start_NF HGNC HGNC:13824 - - 5 - - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000434538.5 protein_coding - 4/17 - - - - - - - rs2236575,COSV59134377 - -1 cds_start_NF HGNC HGNC:13824 - - 2 - - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A downstream_gene_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000437002.5 protein_coding - - - - - - - - - rs2236575,COSV59134377 3114 -1 cds_end_NF HGNC HGNC:13824 - - 5 - - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000438925.7 protein_coding - 17/30 - - - - - - - rs2236575,COSV59134377 - -1 - HGNC HGNC:13824 NM_022362.5 - 1 P1 - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A downstream_gene_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000441194.5 nonsense_mediated_decay - - - - - - - - - rs2236575,COSV59134377 3672 -1 - HGNC HGNC:13824 - - 5 - - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A upstream_gene_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000478452.1 retained_intron - - - - - - - - - rs2236575,COSV59134377 2975 -1 - HGNC HGNC:13824 - - 2 - - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A upstream_gene_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000480108.1 retained_intron - - - - - - - - - rs2236575,COSV59134377 4615 -1 - HGNC HGNC:13824 - - 2 - - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A downstream_gene_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000483626.5 protein_coding_CDS_not_defined - - - - - - - - - rs2236575,COSV59134377 3692 -1 - HGNC HGNC:13824 - - 5 - - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A upstream_gene_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000495415.5 retained_intron - - - - - - - - - rs2236575,COSV59134377 1999 -1 - HGNC HGNC:13824 - - 5 - - Ensembl - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript NM_001289403.2 protein_coding - 16/29 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript NM_001289404.2 protein_coding - 16/29 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript NM_001289405.2 protein_coding - 18/31 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript NM_001330128.2 protein_coding - 15/28 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript NM_001351356.2 protein_coding - 18/31 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript NM_001351357.2 protein_coding - 16/29 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript NM_001351358.2 protein_coding - 16/29 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript NM_001351359.2 protein_coding - 17/30 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript NM_022362.5 protein_coding - 17/30 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 ENST00000438925.7 - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_006717944.5 protein_coding - 17/30 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_011540063.4 protein_coding - 5/18 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_017016516.3 protein_coding - 18/31 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_017016517.3 protein_coding - 17/30 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_017016518.3 protein_coding - 16/29 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_017016519.3 protein_coding - 16/29 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_017016521.3 protein_coding - 15/28 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_047425621.1 protein_coding - 17/30 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_047425622.1 protein_coding - 14/27 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_047425623.1 protein_coding - 14/27 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_047425624.1 protein_coding - 17/30 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_047425625.1 protein_coding - 18/23 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_047425626.1 protein_coding - 17/22 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97465981-97465981 A intron_variant MODIFIER MMS19 64210 Transcript XM_047425627.1 protein_coding - 6/19 - - - - - - - rs2236575,COSV59134377 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - T T - - - 0.3842 - 0,1 0,1 19318433,23632208 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 ENSG00000155229 Transcript ENST00000327238.14 protein_coding 3/29 - - - 203 203 68 A/G gCa/gGa rs2275586 - -1 - HGNC HGNC:13824 - - 5 - - Ensembl - G G - tolerated(1) benign(0) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 ENSG00000155229 Transcript ENST00000355839.10 protein_coding 3/30 - - - 428 203 68 A/G gCa/gGa rs2275586 - -1 - HGNC HGNC:13824 - - 1 - - Ensembl - G G - tolerated(1) benign(0) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 ENSG00000155229 Transcript ENST00000370782.6 protein_coding 4/32 - - - 274 203 68 A/G gCa/gGa rs2275586 - -1 - HGNC HGNC:13824 - - 1 P1 - Ensembl - G G - tolerated(1) benign(0) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000415383.5 nonsense_mediated_decay 2/30 - - - 158 - - - - rs2275586 - -1 - HGNC HGNC:13824 - - 1 - - Ensembl - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 ENSG00000155229 Transcript ENST00000422685.5 protein_coding 3/10 - - - 248 203 68 A/G gCa/gGa rs2275586 - -1 cds_end_NF HGNC HGNC:13824 - - 5 - - Ensembl - G G - tolerated(1) benign(0.003) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 ENSG00000155229 Transcript ENST00000437002.5 protein_coding 3/12 - - - 229 203 68 A/G gCa/gGa rs2275586 - -1 cds_end_NF HGNC HGNC:13824 - - 5 - - Ensembl - G G - tolerated(1) benign(0.001) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 ENSG00000155229 Transcript ENST00000438925.7 protein_coding 3/31 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - HGNC HGNC:13824 NM_022362.5 - 1 P1 - Ensembl - G G - tolerated(1) benign(0) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant,NMD_transcript_variant MODERATE MMS19 ENSG00000155229 Transcript ENST00000439048.1 nonsense_mediated_decay 3/8 - - - 218 203 68 A/G gCa/gGa rs2275586 - -1 - HGNC HGNC:13824 - - 5 - - Ensembl - G G - tolerated(1) benign(0.003) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000441194.5 nonsense_mediated_decay 2/10 - - - 202 - - - - rs2275586 - -1 - HGNC HGNC:13824 - - 5 - - Ensembl - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant,NMD_transcript_variant MODERATE MMS19 ENSG00000155229 Transcript ENST00000448660.5 nonsense_mediated_decay 3/8 - - - 248 197 66 A/G gCa/gGa rs2275586 - -1 - HGNC HGNC:13824 - - 5 - - Ensembl - G G - tolerated(1) benign(0.001) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C non_coding_transcript_exon_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000477575.1 retained_intron 3/6 - - - 266 - - - - rs2275586 - -1 - HGNC HGNC:13824 - - 2 - - Ensembl - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C non_coding_transcript_exon_variant MODIFIER MMS19 ENSG00000155229 Transcript ENST00000483626.5 protein_coding_CDS_not_defined 3/11 - - - 190 - - - - rs2275586 - -1 - HGNC HGNC:13824 - - 5 - - Ensembl - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript NM_001289403.2 protein_coding 3/30 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - tolerated(1) benign(0) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C 5_prime_UTR_variant MODIFIER MMS19 64210 Transcript NM_001289404.2 protein_coding 2/30 - - - 192 - - - - rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript NM_001289405.2 protein_coding 4/32 - - - 310 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - tolerated(1) benign(0) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript NM_001330128.2 protein_coding 3/29 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - tolerated(1) benign(0) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript NM_001351356.2 protein_coding 3/32 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - tolerated(1) benign(0.001) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C 5_prime_UTR_variant MODIFIER MMS19 64210 Transcript NM_001351357.2 protein_coding 2/30 - - - 192 - - - - rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C 5_prime_UTR_variant MODIFIER MMS19 64210 Transcript NM_001351358.2 protein_coding 2/30 - - - 192 - - - - rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C 5_prime_UTR_variant MODIFIER MMS19 64210 Transcript NM_001351359.2 protein_coding 2/31 - - - 192 - - - - rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript NM_022362.5 protein_coding 3/31 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 ENST00000438925.7 - - - - RefSeq - G G - tolerated(1) benign(0) 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript XM_006717944.5 protein_coding 3/31 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript XM_017016516.3 protein_coding 3/32 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript XM_017016517.3 protein_coding 3/31 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript XM_017016518.3 protein_coding 3/30 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript XM_017016519.3 protein_coding 3/30 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript XM_017016521.3 protein_coding 3/29 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript XM_047425621.1 protein_coding 3/31 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript XM_047425622.1 protein_coding 3/28 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript XM_047425623.1 protein_coding 3/28 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C 5_prime_UTR_variant MODIFIER MMS19 64210 Transcript XM_047425624.1 protein_coding 3/31 - - - 111 - - - - rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript XM_047425625.1 protein_coding 3/24 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C missense_variant MODERATE MMS19 64210 Transcript XM_047425626.1 protein_coding 3/23 - - - 241 203 68 A/G gCa/gGa rs2275586 - -1 - EntrezGene HGNC:13824 - - - - - RefSeq - G G - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97481001-97481001 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001180908 enhancer - - - - - - - - - rs2275586 - - - - - - - - - - - - - - - - - 0.9375 - - - 18817904,16385451,26139527 - - - - - . 10:97619449-97619449 C intron_variant MODIFIER MORN4 ENSG00000171160 Transcript ENST00000307450.11 protein_coding - 2/4 - - - - - - - rs10159784,COSV56730534 - -1 - HGNC HGNC:24001 NM_178832.4 - 1 P1 - Ensembl - A A - - - 0.1008 - 0,1 0,1 - - - - - - . 10:97619449-97619449 C 3_prime_UTR_variant MODIFIER MORN4 ENSG00000171160 Transcript ENST00000370635.3 protein_coding 2/2 - - - 380 - - - - rs10159784,COSV56730534 - -1 - HGNC HGNC:24001 - - 1 - - Ensembl - A A - - - 0.1008 - 0,1 0,1 - - - - - - . 10:97619449-97619449 C intron_variant MODIFIER MORN4 ENSG00000171160 Transcript ENST00000478953.1 protein_coding - 2/3 - - - - - - - rs10159784,COSV56730534 - -1 - HGNC HGNC:24001 - - 2 - - Ensembl - A A - - - 0.1008 - 0,1 0,1 - - - - - - . 10:97619449-97619449 C intron_variant MODIFIER MORN4 118812 Transcript NM_001098831.2 protein_coding - 2/4 - - - - - - - rs10159784,COSV56730534 - -1 - EntrezGene HGNC:24001 - - - - - RefSeq - A A - - - 0.1008 - 0,1 0,1 - - - - - - . 10:97619449-97619449 C intron_variant MODIFIER MORN4 118812 Transcript NM_178832.4 protein_coding - 2/4 - - - - - - - rs10159784,COSV56730534 - -1 - EntrezGene HGNC:24001 ENST00000307450.11 - - - - RefSeq - A A - - - 0.1008 - 0,1 0,1 - - - - - - . 10:97619449-97619449 C intron_variant MODIFIER MORN4 118812 Transcript XM_011539251.4 protein_coding - 2/4 - - - - - - - rs10159784,COSV56730534 - -1 - EntrezGene HGNC:24001 - - - - - RefSeq - A A - - - 0.1008 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L ENSG00000166024 Transcript ENST00000298999.8 protein_coding 6/10 - - - 2242 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - HGNC HGNC:23512 NM_001351015.2 - 5 P2 - Ensembl - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L ENSG00000166024 Transcript ENST00000314594.6 protein_coding 3/7 - - - 2050 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - HGNC HGNC:23512 - - 5 P2 - Ensembl - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L ENSG00000166024 Transcript ENST00000370584.7 protein_coding 5/9 - - - 2224 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - HGNC HGNC:23512 - - 2 P2 - Ensembl - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L ENSG00000166024 Transcript ENST00000370586.6 protein_coding 3/7 - - - 338 143 48 H/R cAt/cGt rs1952061,COSV54398691 - 1 - HGNC HGNC:23512 - - 3 A2 - Ensembl - A A - tolerated(0.86) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L ENSG00000166024 Transcript ENST00000612478.4 protein_coding 5/9 - - - 2189 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - HGNC HGNC:23512 - - 5 A2 - Ensembl - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L ENSG00000166024 Transcript ENST00000613938.4 protein_coding 2/6 - - - 251 143 48 H/R cAt/cGt rs1952061,COSV54398691 - 1 - HGNC HGNC:23512 - - 5 A2 - Ensembl - A A - tolerated(0.86) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_001256619.2 protein_coding 7/11 - - - 2284 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_001256620.2 protein_coding 5/9 - - - 2191 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_001256621.2 protein_coding 4/8 - - - 388 143 48 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(0.86) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_001351010.2 protein_coding 8/12 - - - 2417 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_001351011.2 protein_coding 7/11 - - - 2353 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_001351012.2 protein_coding 5/9 - - - 2505 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_001351013.2 protein_coding 4/8 - - - 2094 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_001351014.2 protein_coding 7/11 - - - 2339 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_001351015.2 protein_coding 6/10 - - - 2242 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 ENST00000298999.8 - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_001351016.2 protein_coding 3/7 - - - 1989 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_001351017.2 protein_coding 5/9 - - - 2149 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_014472.5 protein_coding 5/9 - - - 2187 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript NM_138469.3 protein_coding 6/10 - - - 2284 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_011539640.2 protein_coding 8/12 - - - 2381 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_011539641.2 protein_coding 7/11 - - - 2326 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_011539642.2 protein_coding 8/12 - - - 2644 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_011539643.2 protein_coding 6/10 - - - 2233 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_011539644.3 protein_coding 6/10 - - - 2229 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_011539645.3 protein_coding 6/10 - - - 2547 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_011539646.2 protein_coding 5/9 - - - 2136 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_011539648.2 protein_coding 4/8 - - - 2031 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_017016081.2 protein_coding 6/10 - - - 2602 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_024447941.2 protein_coding 6/10 - - - 2191 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425061.1 protein_coding 9/13 - - - 2520 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425062.1 protein_coding 9/13 - - - 2459 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425063.1 protein_coding 9/13 - - - 2699 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425064.1 protein_coding 8/12 - - - 2348 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425065.1 protein_coding 8/12 - - - 2699 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425066.1 protein_coding 9/13 - - - 2741 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425067.1 protein_coding 7/11 - - - 2606 1967 656 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425068.1 protein_coding 6/10 - - - 2560 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425069.1 protein_coding 8/12 - - - 2450 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425070.1 protein_coding 9/13 - - - 2514 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425071.1 protein_coding 7/11 - - - 2657 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425072.1 protein_coding 8/12 - - - 2735 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425073.1 protein_coding 7/11 - - - 2306 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425074.1 protein_coding 8/12 - - - 2657 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425075.1 protein_coding 7/11 - - - 2920 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425076.1 protein_coding 8/12 - - - 2403 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425077.1 protein_coding 9/13 - - - 2589 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425078.1 protein_coding 6/10 - - - 2246 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G missense_variant MODERATE R3HCC1L 27291 Transcript XM_047425079.1 protein_coding 7/11 - - - 2602 1925 642 H/R cAt/cGt rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G downstream_gene_variant MODIFIER R3HCC1L 27291 Transcript XM_047425085.1 protein_coding - - - - - - - - - rs1952061,COSV54398691 1545 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - - - 0.9918 - 0,1 0,1 - - - - - - . 10:98231651-98231651 G intron_variant,non_coding_transcript_variant MODIFIER R3HCC1L 27291 Transcript XR_007061959.1 misc_RNA - 6/7 - - - - - - - rs1952061,COSV54398691 - 1 - EntrezGene HGNC:23512 - - - - - RefSeq - A A - - - 0.9918 - 0,1 0,1 - - - - - - . 10:99747452-99747452 C intron_variant MODIFIER CUTC ENSG00000119929 Transcript ENST00000370472.4 protein_coding - 6/7 - - - - - - - rs138197859,COSV65081617 - 1 cds_end_NF HGNC HGNC:24271 - - 5 - - Ensembl - T T - - - 0.0036 - 0,1 0,1 - - - - - - . 10:99747452-99747452 C intron_variant MODIFIER CUTC ENSG00000119929 Transcript ENST00000370476.10 protein_coding - 6/8 - - - - - - - rs138197859,COSV65081617 - 1 - HGNC HGNC:24271 NM_015960.3 - 1 P1 - Ensembl - T T - - - 0.0036 - 0,1 0,1 - - - - - - . 10:99747452-99747452 C intron_variant,NMD_transcript_variant MODIFIER CUTC ENSG00000119929 Transcript ENST00000471520.5 nonsense_mediated_decay - 6/7 - - - - - - - rs138197859,COSV65081617 - 1 - HGNC HGNC:24271 - - 1 - - Ensembl - T T - - - 0.0036 - 0,1 0,1 - - - - - - . 10:99747452-99747452 C downstream_gene_variant MODIFIER CUTC ENSG00000119929 Transcript ENST00000493385.5 protein_coding_CDS_not_defined - - - - - - - - - rs138197859,COSV65081617 4129 1 - HGNC HGNC:24271 - - 3 - - Ensembl - T T - - - 0.0036 - 0,1 0,1 - - - - - - . 10:99747452-99747452 C intron_variant MODIFIER CUTC 51076 Transcript NM_015960.3 protein_coding - 6/8 - - - - - - - rs138197859,COSV65081617 - 1 - EntrezGene HGNC:24271 ENST00000370476.10 - - - - RefSeq - T T - - - 0.0036 - 0,1 0,1 - - - - - - . 10:99784690-99784690 T non_coding_transcript_exon_variant MODIFIER ABCC2 ENSG00000023839 Transcript ENST00000370434.1 retained_intron 2/7 - - - 198 - - - - rs927344 - 1 - HGNC HGNC:53 - - 2 - - Ensembl - A A - - - 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T downstream_gene_variant MODIFIER NANOGP6 ENSG00000227351 Transcript ENST00000429190.2 processed_pseudogene - - - - - - - - - rs927344 3874 -1 - HGNC HGNC:23104 - - - - - Ensembl - A A - - - 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T missense_variant MODERATE ABCC2 ENSG00000023839 Transcript ENST00000647814.1 protein_coding 2/32 - - - 321 116 39 Y/F tAc/tTc rs927344 - 1 - HGNC HGNC:53 NM_000392.5 - - P1 - Ensembl - A A - tolerated_low_confidence(1) benign(0) 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T non_coding_transcript_exon_variant MODIFIER ABCC2 ENSG00000023839 Transcript ENST00000647836.1 protein_coding_CDS_not_defined 2/7 - - - 321 - - - - rs927344 - 1 - HGNC HGNC:53 - - - - - Ensembl - A A - - - 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T missense_variant,NMD_transcript_variant MODERATE ABCC2 ENSG00000023839 Transcript ENST00000648324.1 nonsense_mediated_decay 2/9 - - - 256 116 39 Y/F tAc/tTc rs927344 - 1 - HGNC HGNC:53 - - - - - Ensembl - A A - tolerated(1) benign(0.005) 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T missense_variant MODERATE ABCC2 ENSG00000023839 Transcript ENST00000648689.1 protein_coding 2/5 - - - 321 116 39 Y/F tAc/tTc rs927344 - 1 - HGNC HGNC:53 - - - - - Ensembl - A A - tolerated(1) benign(0.012) 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T missense_variant,NMD_transcript_variant MODERATE ABCC2 ENSG00000023839 Transcript ENST00000649493.1 nonsense_mediated_decay 2/9 - - - 158 116 39 Y/F tAc/tTc rs927344 - 1 - HGNC HGNC:53 - - - - - Ensembl - A A - tolerated(1) benign(0.005) 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T missense_variant,NMD_transcript_variant MODERATE ABCC2 ENSG00000023839 Transcript ENST00000649932.1 nonsense_mediated_decay 2/8 - - - 256 116 39 Y/F tAc/tTc rs927344 - 1 - HGNC HGNC:53 - - - - - Ensembl - A A - tolerated(1) benign(0.012) 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T missense_variant MODERATE ABCC2 1244 Transcript NM_000392.5 protein_coding 2/32 - - - 321 116 39 Y/F tAc/tTc rs927344 - 1 - EntrezGene HGNC:53 ENST00000647814.1 - - - - RefSeq - A A - tolerated_low_confidence(1) benign(0) 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T missense_variant MODERATE ABCC2 1244 Transcript XM_006717631.5 protein_coding 2/21 - - - 321 116 39 Y/F tAc/tTc rs927344 - 1 - EntrezGene HGNC:53 - - - - - RefSeq - A A - - - 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T missense_variant MODERATE ABCC2 1244 Transcript XM_011539291.4 protein_coding 2/21 - - - 321 116 39 Y/F tAc/tTc rs927344 - 1 - EntrezGene HGNC:53 - - - - - RefSeq - A A - - - 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T missense_variant MODERATE ABCC2 1244 Transcript XM_017015675.3 protein_coding 2/20 - - - 321 116 39 Y/F tAc/tTc rs927344 - 1 - EntrezGene HGNC:53 - - - - - RefSeq - A A - - - 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T missense_variant MODERATE ABCC2 1244 Transcript XM_047424598.1 protein_coding 2/26 - - - 321 116 39 Y/F tAc/tTc rs927344 - 1 - EntrezGene HGNC:53 - - - - - RefSeq - A A - - - 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T non_coding_transcript_exon_variant MODIFIER ABCC2 1244 Transcript XR_945604.4 misc_RNA 2/30 - - - 321 - - - - rs927344 - 1 - EntrezGene HGNC:53 - - - - - RefSeq - A A - - - 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99784690-99784690 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000413581 promoter - - - - - - - - - rs927344 - - - - - - - - - - - - - - - - - 0.9946 benign - 1 22318656,34302046,33688237,34964797,36278153 - - - - - . 10:99956727-99956727 A synonymous_variant LOW DNMBP ENSG00000107554 Transcript ENST00000324109.9 protein_coding 4/17 - - - 867 747 249 V gtC/gtT rs3750715,COSV60625822 - -1 - HGNC HGNC:30373 NM_015221.4 - 1 P1 - Ensembl - G G - - - 0.0759 - 0,1 0,1 - - - - - - . 10:99956727-99956727 A intron_variant,non_coding_transcript_variant MODIFIER DNMBP-AS1 ENSG00000227695 Transcript ENST00000434409.2 lncRNA - 4/4 - - - - - - - rs3750715,COSV60625822 - 1 - HGNC HGNC:20431 - - 2 - - Ensembl - G G - - - 0.0759 - 0,1 0,1 - - - - - - . 10:99956727-99956727 A intron_variant,non_coding_transcript_variant MODIFIER DNMBP-AS1 ENSG00000227695 Transcript ENST00000661150.1 lncRNA - 2/2 - - - - - - - rs3750715,COSV60625822 - 1 - HGNC HGNC:20431 - - - - - Ensembl - G G - - - 0.0759 - 0,1 0,1 - - - - - - . 10:99956727-99956727 A intron_variant,non_coding_transcript_variant MODIFIER DNMBP-AS1 ENSG00000227695 Transcript ENST00000661385.1 lncRNA - 3/3 - - - - - - - rs3750715,COSV60625822 - 1 - HGNC HGNC:20431 - - - - - Ensembl - G G - - - 0.0759 - 0,1 0,1 - - - - - - . 10:99956727-99956727 A synonymous_variant LOW DNMBP 23268 Transcript NM_015221.4 protein_coding 4/17 - - - 867 747 249 V gtC/gtT rs3750715,COSV60625822 - -1 - EntrezGene HGNC:30373 ENST00000324109.9 - - - - RefSeq - G G - - - 0.0759 - 0,1 0,1 - - - - - - . 10:99956727-99956727 A intron_variant,non_coding_transcript_variant MODIFIER DNMBP-AS1 100188954 Transcript NR_024130.3 lncRNA - 4/4 - - - - - - - rs3750715,COSV60625822 - 1 - EntrezGene HGNC:20431 - - - - - RefSeq - G G - - - 0.0759 - 0,1 0,1 - - - - - - . 10:99956727-99956727 A synonymous_variant LOW DNMBP 23268 Transcript XM_011539559.3 protein_coding 5/18 - - - 949 747 249 V gtC/gtT rs3750715,COSV60625822 - -1 - EntrezGene HGNC:30373 - - - - - RefSeq - G G - - - 0.0759 - 0,1 0,1 - - - - - - . 10:99956727-99956727 A synonymous_variant LOW DNMBP 23268 Transcript XM_047424910.1 protein_coding 5/18 - - - 4186 747 249 V gtC/gtT rs3750715,COSV60625822 - -1 - EntrezGene HGNC:30373 - - - - - RefSeq - G G - - - 0.0759 - 0,1 0,1 - - - - - - . 10:100063639-100063639 T synonymous_variant LOW CPN1 ENSG00000120054 Transcript ENST00000370418.8 protein_coding 5/9 - - - 1090 846 282 G ggG/ggA rs17852464,COSV64942351,COSV64942618 - -1 - HGNC HGNC:2312 NM_001308.3 - 1 P1 - Ensembl - C C - - - 0.0681 - 0,1,1 0,1,1 - - - - - - . 10:100063639-100063639 T synonymous_variant LOW CPN1 ENSG00000120054 Transcript ENST00000441382.1 protein_coding 2/5 - - - 294 237 79 G ggG/ggA rs17852464,COSV64942351,COSV64942618 - -1 cds_end_NF HGNC HGNC:2312 - - 2 - - Ensembl - C C - - - 0.0681 - 0,1,1 0,1,1 - - - - - - . 10:100063639-100063639 T synonymous_variant LOW CPN1 1369 Transcript NM_001308.3 protein_coding 5/9 - - - 1090 846 282 G ggG/ggA rs17852464,COSV64942351,COSV64942618 - -1 - EntrezGene HGNC:2312 ENST00000370418.8 - - - - RefSeq - C C - - - 0.0681 - 0,1,1 0,1,1 - - - - - - . 10:100237030-100237030 T intron_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000354105.10 protein_coding - 11/13 - - - - - - - rs10437479 - -1 - HGNC HGNC:25613 NM_018294.6 - 1 P1 - Ensembl - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T downstream_gene_variant MODIFIER SNORA12 ENSG00000212464 Transcript ENST00000391162.1 snoRNA - - - - - - - - - rs10437479 126 -1 - HGNC HGNC:32600 - - - - - Ensembl - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T downstream_gene_variant MODIFIER CHUK-DT ENSG00000227492 Transcript ENST00000444359.1 lncRNA - - - - - - - - - rs10437479 3030 1 - HGNC HGNC:55813 - - 5 - - Ensembl - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T downstream_gene_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000466408.1 retained_intron - - - - - - - - - rs10437479 1153 -1 - HGNC HGNC:25613 - - 2 - - Ensembl - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T downstream_gene_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000466955.5 protein_coding_CDS_not_defined - - - - - - - - - rs10437479 1128 -1 - HGNC HGNC:25613 - - 3 - - Ensembl - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T intron_variant,NMD_transcript_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000468709.5 nonsense_mediated_decay - 10/12 - - - - - - - rs10437479 - -1 - HGNC HGNC:25613 - - 2 - - Ensembl - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T intron_variant,non_coding_transcript_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000478047.1 retained_intron - 2/4 - - - - - - - rs10437479 - -1 - HGNC HGNC:25613 - - 2 - - Ensembl - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T intron_variant,NMD_transcript_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000482452.5 nonsense_mediated_decay - 9/12 - - - - - - - rs10437479 - -1 - HGNC HGNC:25613 - - 5 - - Ensembl - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T downstream_gene_variant MODIFIER CHUK-DT ENSG00000227492 Transcript ENST00000667469.1 lncRNA - - - - - - - - - rs10437479 2632 1 - HGNC HGNC:55813 - - - - - Ensembl - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T intron_variant MODIFIER CWF19L1 55280 Transcript NM_001303404.2 protein_coding - 11/12 - - - - - - - rs10437479 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T intron_variant MODIFIER CWF19L1 55280 Transcript NM_001303405.2 protein_coding - 11/13 - - - - - - - rs10437479 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T intron_variant MODIFIER CWF19L1 55280 Transcript NM_001303406.2 protein_coding - 8/10 - - - - - - - rs10437479 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T intron_variant MODIFIER CWF19L1 55280 Transcript NM_001303407.2 protein_coding - 10/12 - - - - - - - rs10437479 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T intron_variant MODIFIER CWF19L1 55280 Transcript NM_018294.6 protein_coding - 11/13 - - - - - - - rs10437479 - -1 - EntrezGene HGNC:25613 ENST00000354105.10 - - - - RefSeq - C C - - - 0.0821 - - - - - - - - - . 10:100237030-100237030 T downstream_gene_variant MODIFIER SNORA12 677800 Transcript NR_002954.1 snoRNA - - - - - - - - - rs10437479 126 -1 - EntrezGene HGNC:32600 - - - - - RefSeq - C C - - - 0.0821 - - - - - - - - - . 10:100245863-100245863 T synonymous_variant LOW CWF19L1 ENSG00000095485 Transcript ENST00000354105.10 protein_coding 9/14 - - - 945 900 300 R agG/agA rs12269345,COSV62499066 - -1 - HGNC HGNC:25613 NM_018294.6 - 1 P1 - Ensembl - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T upstream_gene_variant MODIFIER PHB1P9 ENSG00000230224 Transcript ENST00000453578.1 processed_pseudogene - - - - - - - - - rs12269345,COSV62499066 2408 1 - HGNC HGNC:39288 - - - - - Ensembl - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T non_coding_transcript_exon_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000466408.1 retained_intron 1/3 - - - 254 - - - - rs12269345,COSV62499066 - -1 - HGNC HGNC:25613 - - 2 - - Ensembl - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T non_coding_transcript_exon_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000466955.5 protein_coding_CDS_not_defined 5/7 - - - 441 - - - - rs12269345,COSV62499066 - -1 - HGNC HGNC:25613 - - 3 - - Ensembl - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000468709.5 nonsense_mediated_decay 8/13 - - - 756 - - - - rs12269345,COSV62499066 - -1 - HGNC HGNC:25613 - - 2 - - Ensembl - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T downstream_gene_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000473842.1 protein_coding - - - - - - - - - rs12269345,COSV62499066 4411 -1 cds_end_NF HGNC HGNC:25613 - - 5 - - Ensembl - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T intron_variant,non_coding_transcript_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000478047.1 retained_intron - 1/4 - - - - - - - rs12269345,COSV62499066 - -1 - HGNC HGNC:25613 - - 2 - - Ensembl - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000482452.5 nonsense_mediated_decay 7/13 - - - 588 - - - - rs12269345,COSV62499066 - -1 - HGNC HGNC:25613 - - 5 - - Ensembl - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T non_coding_transcript_exon_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000496796.5 protein_coding_CDS_not_defined 6/6 - - - 664 - - - - rs12269345,COSV62499066 - -1 - HGNC HGNC:25613 - - 3 - - Ensembl - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T synonymous_variant LOW CWF19L1 55280 Transcript NM_001303404.2 protein_coding 9/13 - - - 945 900 300 R agG/agA rs12269345,COSV62499066 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T synonymous_variant LOW CWF19L1 55280 Transcript NM_001303405.2 protein_coding 9/14 - - - 990 489 163 R agG/agA rs12269345,COSV62499066 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T synonymous_variant LOW CWF19L1 55280 Transcript NM_001303406.2 protein_coding 6/11 - - - 679 489 163 R agG/agA rs12269345,COSV62499066 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T synonymous_variant LOW CWF19L1 55280 Transcript NM_001303407.2 protein_coding 8/13 - - - 714 165 55 R agG/agA rs12269345,COSV62499066 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100245863-100245863 T synonymous_variant LOW CWF19L1 55280 Transcript NM_018294.6 protein_coding 9/14 - - - 945 900 300 R agG/agA rs12269345,COSV62499066 - -1 - EntrezGene HGNC:25613 ENST00000354105.10 - - - - RefSeq - C C - - - 0.0841 - 0,1 0,1 - - - - - - . 10:100246924-100246924 T synonymous_variant LOW CWF19L1 ENSG00000095485 Transcript ENST00000354105.10 protein_coding 8/14 - - - 765 720 240 A gcG/gcA rs17112787,COSV62499336 - -1 - HGNC HGNC:25613 NM_018294.6 - 1 P1 - Ensembl - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T upstream_gene_variant MODIFIER PHB1P9 ENSG00000230224 Transcript ENST00000453578.1 processed_pseudogene - - - - - - - - - rs17112787,COSV62499336 1347 1 - HGNC HGNC:39288 - - - - - Ensembl - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T upstream_gene_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000466408.1 retained_intron - - - - - - - - - rs17112787,COSV62499336 808 -1 - HGNC HGNC:25613 - - 2 - - Ensembl - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T non_coding_transcript_exon_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000466955.5 protein_coding_CDS_not_defined 4/7 - - - 261 - - - - rs17112787,COSV62499336 - -1 - HGNC HGNC:25613 - - 3 - - Ensembl - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000468709.5 nonsense_mediated_decay 7/13 - - - 576 - - - - rs17112787,COSV62499336 - -1 - HGNC HGNC:25613 - - 2 - - Ensembl - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T downstream_gene_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000473842.1 protein_coding - - - - - - - - - rs17112787,COSV62499336 3350 -1 cds_end_NF HGNC HGNC:25613 - - 5 - - Ensembl - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T intron_variant,non_coding_transcript_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000478047.1 retained_intron - 1/4 - - - - - - - rs17112787,COSV62499336 - -1 - HGNC HGNC:25613 - - 2 - - Ensembl - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T 3_prime_UTR_variant,NMD_transcript_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000482452.5 nonsense_mediated_decay 6/13 - - - 408 - - - - rs17112787,COSV62499336 - -1 - HGNC HGNC:25613 - - 5 - - Ensembl - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T non_coding_transcript_exon_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000496796.5 protein_coding_CDS_not_defined 5/6 - - - 484 - - - - rs17112787,COSV62499336 - -1 - HGNC HGNC:25613 - - 3 - - Ensembl - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T synonymous_variant LOW CWF19L1 55280 Transcript NM_001303404.2 protein_coding 8/13 - - - 765 720 240 A gcG/gcA rs17112787,COSV62499336 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T synonymous_variant LOW CWF19L1 55280 Transcript NM_001303405.2 protein_coding 8/14 - - - 810 309 103 A gcG/gcA rs17112787,COSV62499336 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T synonymous_variant LOW CWF19L1 55280 Transcript NM_001303406.2 protein_coding 5/11 - - - 499 309 103 A gcG/gcA rs17112787,COSV62499336 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T 5_prime_UTR_variant MODIFIER CWF19L1 55280 Transcript NM_001303407.2 protein_coding 7/13 - - - 534 - - - - rs17112787,COSV62499336 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100246924-100246924 T synonymous_variant LOW CWF19L1 55280 Transcript NM_018294.6 protein_coding 8/14 - - - 765 720 240 A gcG/gcA rs17112787,COSV62499336 - -1 - EntrezGene HGNC:25613 ENST00000354105.10 - - - - RefSeq - C C - - - 0.1084 benign,likely_benign 0,1 1,1 - - - - - - . 10:100256287-100256287 T missense_variant MODERATE CWF19L1 ENSG00000095485 Transcript ENST00000354105.10 protein_coding 5/14 - - - 524 479 160 C/Y tGt/tAt rs2270962,COSV62499069 - -1 - HGNC HGNC:25613 NM_018294.6 - 1 P1 - Ensembl - C C - tolerated(0.07) benign(0) 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T upstream_gene_variant MODIFIER RNU6-422P ENSG00000207362 Transcript ENST00000384632.1 snRNA - - - - - - - - - rs2270962,COSV62499069 2284 1 - HGNC HGNC:47385 - - - - - Ensembl - C C - - - 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T intron_variant,non_coding_transcript_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000466955.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs2270962,COSV62499069 - -1 - HGNC HGNC:25613 - - 3 - - Ensembl - C C - - - 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T intron_variant,NMD_transcript_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000468709.5 nonsense_mediated_decay - 4/12 - - - - - - - rs2270962,COSV62499069 - -1 - HGNC HGNC:25613 - - 2 - - Ensembl - C C - - - 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T missense_variant MODERATE CWF19L1 ENSG00000095485 Transcript ENST00000473842.1 protein_coding 4/6 - - - 451 377 126 C/Y tGt/tAt rs2270962,COSV62499069 - -1 cds_end_NF HGNC HGNC:25613 - - 5 - - Ensembl - C C - tolerated(0.09) benign(0) 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T upstream_gene_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000478047.1 retained_intron - - - - - - - - - rs2270962,COSV62499069 1668 -1 - HGNC HGNC:25613 - - 2 - - Ensembl - C C - - - 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T intron_variant,NMD_transcript_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000482452.5 nonsense_mediated_decay - 3/12 - - - - - - - rs2270962,COSV62499069 - -1 - HGNC HGNC:25613 - - 5 - - Ensembl - C C - - - 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T non_coding_transcript_exon_variant MODIFIER CWF19L1 ENSG00000095485 Transcript ENST00000496796.5 protein_coding_CDS_not_defined 2/6 - - - 243 - - - - rs2270962,COSV62499069 - -1 - HGNC HGNC:25613 - - 3 - - Ensembl - C C - - - 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T missense_variant MODERATE CWF19L1 55280 Transcript NM_001303404.2 protein_coding 5/13 - - - 524 479 160 C/Y tGt/tAt rs2270962,COSV62499069 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - tolerated(0.09) benign(0) 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T missense_variant MODERATE CWF19L1 55280 Transcript NM_001303405.2 protein_coding 5/14 - - - 569 68 23 C/Y tGt/tAt rs2270962,COSV62499069 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - tolerated(0.07) benign(0) 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T missense_variant MODERATE CWF19L1 55280 Transcript NM_001303406.2 protein_coding 2/11 - - - 258 68 23 C/Y tGt/tAt rs2270962,COSV62499069 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - tolerated(0.07) benign(0) 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T intron_variant MODIFIER CWF19L1 55280 Transcript NM_001303407.2 protein_coding - 4/12 - - - - - - - rs2270962,COSV62499069 - -1 - EntrezGene HGNC:25613 - - - - - RefSeq - C C - - - 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T missense_variant MODERATE CWF19L1 55280 Transcript NM_018294.6 protein_coding 5/14 - - - 524 479 160 C/Y tGt/tAt rs2270962,COSV62499069 - -1 - EntrezGene HGNC:25613 ENST00000354105.10 - - - - RefSeq - C C - tolerated(0.07) benign(0) 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100256287-100256287 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000413685 enhancer - - - - - - - - - rs2270962,COSV62499069 - - - - - - - - - - - - - - - - - 0.2510 likely_benign 0,1 1,1 21881118,16385451,17728769 - - - - - . 10:100291214-100291216 G intron_variant MODIFIER PKD2L1 ENSG00000107593 Transcript ENST00000318222.4 protein_coding - 12/15 - - - - - - - - - -1 - HGNC HGNC:9011 NM_016112.3 - 1 P1 - Ensembl - - - - - - - - - - - - - - - - . 10:100291214-100291216 G upstream_gene_variant MODIFIER BLOC1S2 ENSG00000196072 Transcript ENST00000361832.2 protein_coding_CDS_not_defined - - - - - - - - - - 4543 -1 - HGNC HGNC:20984 - - 5 - - Ensembl - - - - - - - - - - - - - - - - . 10:100291214-100291216 G upstream_gene_variant MODIFIER BLOC1S2 ENSG00000196072 Transcript ENST00000370372.7 protein_coding - - - - - - - - - - 4536 -1 - HGNC HGNC:20984 NM_173809.5 - 1 P1 - Ensembl - - - - - - - - - - - - - - - - . 10:100291214-100291216 G upstream_gene_variant MODIFIER BLOC1S2 ENSG00000196072 Transcript ENST00000441611.5 protein_coding - - - - - - - - - - 4859 -1 - HGNC HGNC:20984 - - 1 - - Ensembl - - - - - - - - - - - - - - - - . 10:100291214-100291216 G intron_variant MODIFIER PKD2L1 ENSG00000107593 Transcript ENST00000465680.2 protein_coding - 1/1 - - - - - - - - - -1 cds_start_NF HGNC HGNC:9011 - - 3 - - Ensembl - - - - - - - - - - - - - - - - . 10:100291214-100291216 G intron_variant,NMD_transcript_variant MODIFIER PKD2L1 ENSG00000107593 Transcript ENST00000528248.1 nonsense_mediated_decay - 12/15 - - - - - - - - - -1 cds_start_NF HGNC HGNC:9011 - - 1 - - Ensembl - - - - - - - - - - - - - - - - . 10:100291214-100291216 G upstream_gene_variant MODIFIER BLOC1S2 ENSG00000196072 Transcript ENST00000614731.4 protein_coding - - - - - - - - - - 4838 -1 - HGNC HGNC:20984 - - 2 - - Ensembl - - - - - - - - - - - - - - - - . 10:100291214-100291216 G upstream_gene_variant MODIFIER BLOC1S2 282991 Transcript NM_001001342.2 protein_coding - - - - - - - - - - 4852 -1 - EntrezGene HGNC:20984 - - - - - RefSeq - - - OK - - - - - - - - - - - - . 10:100291214-100291216 G intron_variant MODIFIER PKD2L1 9033 Transcript NM_001253837.2 protein_coding - 12/15 - - - - - - - - - -1 - EntrezGene HGNC:9011 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:100291214-100291216 G upstream_gene_variant MODIFIER BLOC1S2 282991 Transcript NM_001282436.2 protein_coding - - - - - - - - - - 4536 -1 - EntrezGene HGNC:20984 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:100291214-100291216 G upstream_gene_variant MODIFIER BLOC1S2 282991 Transcript NM_001282437.2 protein_coding - - - - - - - - - - 4536 -1 - EntrezGene HGNC:20984 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:100291214-100291216 G upstream_gene_variant MODIFIER BLOC1S2 282991 Transcript NM_001282438.1 protein_coding - - - - - - - - - - 4838 -1 - EntrezGene HGNC:20984 - - - - - RefSeq - - - OK - - - - - - - - - - - - . 10:100291214-100291216 G upstream_gene_variant MODIFIER BLOC1S2 282991 Transcript NM_001282439.2 protein_coding - - - - - - - - - - 4536 -1 - EntrezGene HGNC:20984 - - - - - RefSeq - - - - - - - - - - - - - - - - . 10:100291214-100291216 G intron_variant MODIFIER PKD2L1 9033 Transcript NM_016112.3 protein_coding - 12/15 - - - - - - - - - -1 - EntrezGene HGNC:9011 ENST00000318222.4 - - - - RefSeq - - - - - - - - - - - - - - - - . 10:100291214-100291216 G upstream_gene_variant MODIFIER BLOC1S2 282991 Transcript NM_173809.5 protein_coding - - - - - - - - - - 4536 -1 - EntrezGene HGNC:20984 ENST00000370372.7 - - - - RefSeq - - - - - - - - - - - - - - - - . 10:100360841-100360841 T missense_variant MODERATE SCD ENSG00000099194 Transcript ENST00000370355.3 protein_coding 6/6 - - - 1260 988 330 L/F Ctc/Ttc - - 1 - HGNC HGNC:10571 NM_005063.5 - 1 P1 - Ensembl - C C - tolerated_low_confidence(0.06) benign(0.051) - - - - - - - - - - . 10:100360841-100360841 T missense_variant MODERATE SCD 6319 Transcript NM_005063.5 protein_coding 6/6 - - - 1260 988 330 L/F Ctc/Ttc - - 1 - EntrezGene HGNC:10571 ENST00000370355.3 - - - - RefSeq - C C - tolerated_low_confidence(0.06) benign(0.051) - - - - - - - - - - . 10:100360912-100360912 G missense_variant MODERATE SCD ENSG00000099194 Transcript ENST00000370355.3 protein_coding 6/6 - - - 1331 1059 353 D/E gaT/gaG COSV64853545 - 1 - HGNC HGNC:10571 NM_005063.5 - 1 P1 - Ensembl - T T - deleterious(0.04) benign(0.11) - - 1 1 - - - - - - . 10:100360912-100360912 G missense_variant MODERATE SCD 6319 Transcript NM_005063.5 protein_coding 6/6 - - - 1331 1059 353 D/E gaT/gaG COSV64853545 - 1 - EntrezGene HGNC:10571 ENST00000370355.3 - - - - RefSeq - T T - deleterious(0.04) benign(0.11) - - 1 1 - - - - - - . 10:100463200-100463200 C missense_variant MODERATE WNT8B ENSG00000075290 Transcript ENST00000343737.6 protein_coding 1/6 - - - 192 32 11 C/S tGt/tCt rs3793771,COSV100648937,COSV59325045,COSV59326419 - 1 - HGNC HGNC:12789 NM_003393.4 - 1 P1 - Ensembl - G G - tolerated(0.23) benign(0) 0.1863 - 0,1,1,1 0,1,1,1 24980784,16385451,26173102 - - - - - . 10:100463200-100463200 C missense_variant MODERATE WNT8B 7479 Transcript NM_003393.4 protein_coding 1/6 - - - 192 32 11 C/S tGt/tCt rs3793771,COSV100648937,COSV59325045,COSV59326419 - 1 - EntrezGene HGNC:12789 ENST00000343737.6 - - - - RefSeq - G G - tolerated(0.23) benign(0) 0.1863 - 0,1,1,1 0,1,1,1 24980784,16385451,26173102 - - - - - . 10:100505426-100505426 A missense_variant MODERATE SEC31B ENSG00000075826 Transcript ENST00000370345.8 protein_coding 10/26 - - - 1239 1114 372 P/S Cca/Tca rs2295772,COSV64824807 - -1 - HGNC HGNC:23197 NM_015490.4 - 1 P1 - Ensembl - G G - tolerated(0.92) benign(0) 0.1851 - 0,1 0,1 16385451 - - - - - . 10:100505426-100505426 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000462434.5 nonsense_mediated_decay 9/25 - - - 1720 - - - - rs2295772,COSV64824807 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - G G - - - 0.1851 - 0,1 0,1 16385451 - - - - - . 10:100505426-100505426 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000469546.6 nonsense_mediated_decay 8/21 - - - 1701 - - - - rs2295772,COSV64824807 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - G G - - - 0.1851 - 0,1 0,1 16385451 - - - - - . 10:100505426-100505426 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000479697.5 nonsense_mediated_decay 8/26 - - - 1585 - - - - rs2295772,COSV64824807 - -1 - HGNC HGNC:23197 - - 1 - - Ensembl - G G - - - 0.1851 - 0,1 0,1 16385451 - - - - - . 10:100505426-100505426 A downstream_gene_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000480905.1 nonsense_mediated_decay - - - - - - - - - rs2295772,COSV64824807 910 -1 - HGNC HGNC:23197 - - 3 - - Ensembl - G G - - - 0.1851 - 0,1 0,1 16385451 - - - - - . 10:100505426-100505426 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000482456.6 nonsense_mediated_decay 9/25 - - - 1060 - - - - rs2295772,COSV64824807 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - G G - - - 0.1851 - 0,1 0,1 16385451 - - - - - . 10:100505426-100505426 A non_coding_transcript_exon_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000484848.5 retained_intron 4/14 - - - 1350 - - - - rs2295772,COSV64824807 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - G G - - - 0.1851 - 0,1 0,1 16385451 - - - - - . 10:100505426-100505426 A non_coding_transcript_exon_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000490567.1 retained_intron 3/4 - - - 383 - - - - rs2295772,COSV64824807 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - G G - - - 0.1851 - 0,1 0,1 16385451 - - - - - . 10:100505426-100505426 A missense_variant MODERATE SEC31B 25956 Transcript NM_015490.4 protein_coding 10/26 - - - 1239 1114 372 P/S Cca/Tca rs2295772,COSV64824807 - -1 - EntrezGene HGNC:23197 ENST00000370345.8 - - - - RefSeq - G G - tolerated(0.92) benign(0) 0.1851 - 0,1 0,1 16385451 - - - - - . 10:100506058-100506058 G synonymous_variant LOW SEC31B ENSG00000075826 Transcript ENST00000370345.8 protein_coding 9/26 - - - 1151 1026 342 H caT/caC rs2295773,COSV64824811 - -1 - HGNC HGNC:23197 NM_015490.4 - 1 P1 - Ensembl - A A - - - 0.1851 - 0,1 0,1 - - - - - - . 10:100506058-100506058 G synonymous_variant,NMD_transcript_variant LOW SEC31B ENSG00000075826 Transcript ENST00000462434.5 nonsense_mediated_decay 9/25 - - - 1088 1023 341 H caT/caC rs2295773,COSV64824811 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - A A - - - 0.1851 - 0,1 0,1 - - - - - - . 10:100506058-100506058 G synonymous_variant,NMD_transcript_variant LOW SEC31B ENSG00000075826 Transcript ENST00000469546.6 nonsense_mediated_decay 8/21 - - - 1069 1026 342 H caT/caC rs2295773,COSV64824811 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - A A - - - 0.1851 - 0,1 0,1 - - - - - - . 10:100506058-100506058 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000479697.5 nonsense_mediated_decay 8/26 - - - 953 - - - - rs2295773,COSV64824811 - -1 - HGNC HGNC:23197 - - 1 - - Ensembl - A A - - - 0.1851 - 0,1 0,1 - - - - - - . 10:100506058-100506058 G downstream_gene_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000480905.1 nonsense_mediated_decay - - - - - - - - - rs2295773,COSV64824811 278 -1 - HGNC HGNC:23197 - - 3 - - Ensembl - A A - - - 0.1851 - 0,1 0,1 - - - - - - . 10:100506058-100506058 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000482456.6 nonsense_mediated_decay 8/25 - - - 972 - - - - rs2295773,COSV64824811 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - A A - - - 0.1851 - 0,1 0,1 - - - - - - . 10:100506058-100506058 G non_coding_transcript_exon_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000484848.5 retained_intron 4/14 - - - 718 - - - - rs2295773,COSV64824811 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - A A - - - 0.1851 - 0,1 0,1 - - - - - - . 10:100506058-100506058 G non_coding_transcript_exon_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000490567.1 retained_intron 2/4 - - - 295 - - - - rs2295773,COSV64824811 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - A A - - - 0.1851 - 0,1 0,1 - - - - - - . 10:100506058-100506058 G synonymous_variant LOW SEC31B 25956 Transcript NM_015490.4 protein_coding 9/26 - - - 1151 1026 342 H caT/caC rs2295773,COSV64824811 - -1 - EntrezGene HGNC:23197 ENST00000370345.8 - - - - RefSeq - A A - - - 0.1851 - 0,1 0,1 - - - - - - . 10:100506090-100506090 C missense_variant MODERATE SEC31B ENSG00000075826 Transcript ENST00000370345.8 protein_coding 9/26 - - - 1119 994 332 S/A Tct/Gct rs2295774,COSV64824800 - -1 - HGNC HGNC:23197 NM_015490.4 - 1 P1 - Ensembl - A A - deleterious(0) probably_damaging(0.987) 0.1500 - 0,1 0,1 28379579,16385451 - - - - - . 10:100506090-100506090 C missense_variant,NMD_transcript_variant MODERATE SEC31B ENSG00000075826 Transcript ENST00000462434.5 nonsense_mediated_decay 9/25 - - - 1056 991 331 S/A Tct/Gct rs2295774,COSV64824800 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - A A - deleterious_low_confidence(0) probably_damaging(0.999) 0.1500 - 0,1 0,1 28379579,16385451 - - - - - . 10:100506090-100506090 C missense_variant,NMD_transcript_variant MODERATE SEC31B ENSG00000075826 Transcript ENST00000469546.6 nonsense_mediated_decay 8/21 - - - 1037 994 332 S/A Tct/Gct rs2295774,COSV64824800 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - A A - deleterious_low_confidence(0) probably_damaging(0.98) 0.1500 - 0,1 0,1 28379579,16385451 - - - - - . 10:100506090-100506090 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000479697.5 nonsense_mediated_decay 8/26 - - - 921 - - - - rs2295774,COSV64824800 - -1 - HGNC HGNC:23197 - - 1 - - Ensembl - A A - - - 0.1500 - 0,1 0,1 28379579,16385451 - - - - - . 10:100506090-100506090 C downstream_gene_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000480905.1 nonsense_mediated_decay - - - - - - - - - rs2295774,COSV64824800 246 -1 - HGNC HGNC:23197 - - 3 - - Ensembl - A A - - - 0.1500 - 0,1 0,1 28379579,16385451 - - - - - . 10:100506090-100506090 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000482456.6 nonsense_mediated_decay 8/25 - - - 940 - - - - rs2295774,COSV64824800 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - A A - - - 0.1500 - 0,1 0,1 28379579,16385451 - - - - - . 10:100506090-100506090 C non_coding_transcript_exon_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000484848.5 retained_intron 4/14 - - - 686 - - - - rs2295774,COSV64824800 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - A A - - - 0.1500 - 0,1 0,1 28379579,16385451 - - - - - . 10:100506090-100506090 C non_coding_transcript_exon_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000490567.1 retained_intron 2/4 - - - 263 - - - - rs2295774,COSV64824800 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - A A - - - 0.1500 - 0,1 0,1 28379579,16385451 - - - - - . 10:100506090-100506090 C missense_variant MODERATE SEC31B 25956 Transcript NM_015490.4 protein_coding 9/26 - - - 1119 994 332 S/A Tct/Gct rs2295774,COSV64824800 - -1 - EntrezGene HGNC:23197 ENST00000370345.8 - - - - RefSeq - A A - deleterious(0) probably_damaging(0.987) 0.1500 - 0,1 0,1 28379579,16385451 - - - - - . 10:100509328-100509328 A missense_variant MODERATE SEC31B ENSG00000075826 Transcript ENST00000370345.8 protein_coding 4/26 - - - 512 387 129 L/F ttG/ttT rs3793706,COSV100944804,COSV64824815 - -1 - HGNC HGNC:23197 NM_015490.4 - 1 P1 - Ensembl - C C - tolerated(1) benign(0) 0.1941 - 0,1,1 0,1,1 28379579,16385451 - - - - - . 10:100509328-100509328 A missense_variant,NMD_transcript_variant MODERATE SEC31B ENSG00000075826 Transcript ENST00000462434.5 nonsense_mediated_decay 4/25 - - - 452 387 129 L/F ttG/ttT rs3793706,COSV100944804,COSV64824815 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - C C - tolerated_low_confidence(1) benign(0) 0.1941 - 0,1,1 0,1,1 28379579,16385451 - - - - - . 10:100509328-100509328 A missense_variant,NMD_transcript_variant MODERATE SEC31B ENSG00000075826 Transcript ENST00000469546.6 nonsense_mediated_decay 3/21 - - - 430 387 129 L/F ttG/ttT rs3793706,COSV100944804,COSV64824815 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - C C - tolerated_low_confidence(1) benign(0) 0.1941 - 0,1,1 0,1,1 28379579,16385451 - - - - - . 10:100509328-100509328 A intron_variant,NMD_transcript_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000479697.5 nonsense_mediated_decay - 3/25 - - - - - - - rs3793706,COSV100944804,COSV64824815 - -1 - HGNC HGNC:23197 - - 1 - - Ensembl - C C - - - 0.1941 - 0,1,1 0,1,1 28379579,16385451 - - - - - . 10:100509328-100509328 A intron_variant,NMD_transcript_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000480905.1 nonsense_mediated_decay - 3/6 - - - - - - - rs3793706,COSV100944804,COSV64824815 - -1 - HGNC HGNC:23197 - - 3 - - Ensembl - C C - - - 0.1941 - 0,1,1 0,1,1 28379579,16385451 - - - - - . 10:100509328-100509328 A intron_variant,NMD_transcript_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000482456.6 nonsense_mediated_decay - 3/24 - - - - - - - rs3793706,COSV100944804,COSV64824815 - -1 - HGNC HGNC:23197 - - 5 - - Ensembl - C C - - - 0.1941 - 0,1,1 0,1,1 28379579,16385451 - - - - - . 10:100509328-100509328 A upstream_gene_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000484848.5 retained_intron - - - - - - - - - rs3793706,COSV100944804,COSV64824815 535 -1 - HGNC HGNC:23197 - - 5 - - Ensembl - C C - - - 0.1941 - 0,1,1 0,1,1 28379579,16385451 - - - - - . 10:100509328-100509328 A upstream_gene_variant MODIFIER SEC31B ENSG00000075826 Transcript ENST00000490567.1 retained_intron - - - - - - - - - rs3793706,COSV100944804,COSV64824815 2857 -1 - HGNC HGNC:23197 - - 5 - - Ensembl - C C - - - 0.1941 - 0,1,1 0,1,1 28379579,16385451 - - - - - . 10:100509328-100509328 A missense_variant MODERATE SEC31B 25956 Transcript NM_015490.4 protein_coding 4/26 - - - 512 387 129 L/F ttG/ttT rs3793706,COSV100944804,COSV64824815 - -1 - EntrezGene HGNC:23197 ENST00000370345.8 - - - - RefSeq - C C - tolerated(1) benign(0) 0.1941 - 0,1,1 0,1,1 28379579,16385451 - - - - - . 10:100509328-100509328 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000261112 CTCF_binding_site - - - - - - - - - rs3793706,COSV100944804,COSV64824815 - - - - - - - - - - - - - - - - - 0.1941 - 0,1,1 0,1,1 28379579,16385451 - - - - - . 10:100509328-100509328 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000949050 enhancer - - - - - - - - - rs3793706,COSV100944804,COSV64824815 - - - - - - - - - - - - - - - - - 0.1941 - 0,1,1 0,1,1 28379579,16385451 - - - - - . 10:100536304-100536304 G intron_variant MODIFIER HIF1AN ENSG00000166135 Transcript ENST00000299163.7 protein_coding - 1/7 - - - - - - - rs2295779,COSV54500531 - 1 - HGNC HGNC:17113 NM_017902.3 - 1 P1 - Ensembl - A A - - - 0.1811 - 0,1 0,1 - - - - - - . 10:100536304-100536304 G upstream_gene_variant MODIFIER HIF1AN ENSG00000166135 Transcript ENST00000478787.1 retained_intron - - - - - - - - - rs2295779,COSV54500531 166 1 - HGNC HGNC:17113 - - 3 - - Ensembl - A A - - - 0.1811 - 0,1 0,1 - - - - - - . 10:100536304-100536304 G intron_variant,NMD_transcript_variant MODIFIER HIF1AN ENSG00000166135 Transcript ENST00000526476.5 nonsense_mediated_decay - 1/4 - - - - - - - rs2295779,COSV54500531 - 1 - HGNC HGNC:17113 - - 3 - - Ensembl - A A - - - 0.1811 - 0,1 0,1 - - - - - - . 10:100536304-100536304 G non_coding_transcript_exon_variant MODIFIER HIF1AN ENSG00000166135 Transcript ENST00000528044.1 protein_coding_CDS_not_defined 1/2 - - - 107 - - - - rs2295779,COSV54500531 - 1 - HGNC HGNC:17113 - - 4 - - Ensembl - A A - - - 0.1811 - 0,1 0,1 - - - - - - . 10:100536304-100536304 G intron_variant MODIFIER HIF1AN ENSG00000166135 Transcript ENST00000533589.6 protein_coding - 1/5 - - - - - - - rs2295779,COSV54500531 - 1 cds_end_NF HGNC HGNC:17113 - - 3 - - Ensembl - A A - - - 0.1811 - 0,1 0,1 - - - - - - . 10:100536304-100536304 G intron_variant MODIFIER HIF1AN 55662 Transcript NM_017902.3 protein_coding - 1/7 - - - - - - - rs2295779,COSV54500531 - 1 - EntrezGene HGNC:17113 ENST00000299163.7 - - - - RefSeq - A A - - - 0.1811 - 0,1 0,1 - - - - - - . 10:100536304-100536304 G intron_variant MODIFIER HIF1AN 55662 Transcript XM_011539940.3 protein_coding - 1/7 - - - - - - - rs2295779,COSV54500531 - 1 - EntrezGene HGNC:17113 - - - - - RefSeq - A A - - - 0.1811 - 0,1 0,1 - - - - - - . 10:100536304-100536304 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000032518 promoter - - - - - - - - - rs2295779,COSV54500531 - - - - - - - - - - - - - - - - - 0.1811 - 0,1 0,1 - - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000299179.9 protein_coding - - - - - - - - - rs3740485,COSV54550546 3370 -1 - HGNC HGNC:14517 - - 1 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK ENSG00000107815 Transcript ENST00000311916.8 protein_coding - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - HGNC HGNC:1160 NM_021830.5 - 1 P1 - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000318325.6 protein_coding - - - - - - - - - rs3740485,COSV54550546 3367 -1 - HGNC HGNC:14517 - - 1 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000318364.13 protein_coding - - - - - - - - - rs3740485,COSV54550546 3367 -1 - HGNC HGNC:14517 NM_032112.3 - 1 P1 - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000342071.5 protein_coding - - - - - - - - - rs3740485,COSV54550546 3349 -1 - HGNC HGNC:14517 - - 5 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK ENSG00000107815 Transcript ENST00000370228.2 protein_coding - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - HGNC HGNC:1160 - - 1 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000370234.4 protein_coding - - - - - - - - - rs3740485,COSV54550546 3381 -1 - HGNC HGNC:14517 - - 1 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000370236.5 protein_coding - - - - - - - - - rs3740485,COSV54550546 3381 -1 - HGNC HGNC:14517 - - 2 P1 - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000370241.7 protein_coding - - - - - - - - - rs3740485,COSV54550546 3408 -1 - HGNC HGNC:14517 - - 5 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000370242.8 protein_coding - - - - - - - - - rs3740485,COSV54550546 3367 -1 - HGNC HGNC:14517 - - 2 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000448244.5 protein_coding - - - - - - - - - rs3740485,COSV54550546 3431 -1 cds_start_NF HGNC HGNC:14517 - - 5 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T downstream_gene_variant MODIFIER TWNK ENSG00000107815 Transcript ENST00000459764.1 protein_coding - - - - - - - - - rs3740485,COSV54550546 980 1 cds_end_NF HGNC HGNC:1160 - - 3 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK ENSG00000107815 Transcript ENST00000473656.5 protein_coding - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - HGNC HGNC:1160 - - 2 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000476012.5 protein_coding_CDS_not_defined - - - - - - - - - rs3740485,COSV54550546 3594 -1 - HGNC HGNC:14517 - - 1 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK ENSG00000107815 Transcript ENST00000476766.5 protein_coding - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - HGNC HGNC:1160 - - 3 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000477279.1 protein_coding - - - - - - - - - rs3740485,COSV54550546 3349 -1 - HGNC HGNC:14517 - - 2 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T downstream_gene_variant MODIFIER SEMA4G ENSG00000095539 Transcript ENST00000484128.2 protein_coding_CDS_not_defined - - - - - - - - - rs3740485,COSV54550546 4993 1 - HGNC HGNC:10735 - - 2 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000487059.1 retained_intron - - - - - - - - - rs3740485,COSV54550546 3351 -1 - HGNC HGNC:14517 - - 2 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000493646.1 protein_coding_CDS_not_defined - - - - - - - - - rs3740485,COSV54550546 3578 -1 - HGNC HGNC:14517 - - 1 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000523148.5 protein_coding - - - - - - - - - rs3740485,COSV54550546 3668 -1 cds_start_NF HGNC HGNC:14517 - - 3 - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW TWNK ENSG00000107815 Transcript ENST00000643860.1 nonsense_mediated_decay - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - HGNC HGNC:1160 - - - - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TWNK ENSG00000107815 Transcript ENST00000646226.1 retained_intron - 3/3 - - - - - - - rs3740485,COSV54550546 - 1 - HGNC HGNC:1160 - - - - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW TWNK ENSG00000107815 Transcript ENST00000647109.1 nonsense_mediated_decay - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 cds_start_NF HGNC HGNC:1160 - - - - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW TWNK ENSG00000107815 Transcript ENST00000650396.1 nonsense_mediated_decay - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 cds_start_NF HGNC HGNC:1160 - - - - - Ensembl - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK 56652 Transcript NM_001163812.2 protein_coding - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK 56652 Transcript NM_001163813.2 protein_coding - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK 56652 Transcript NM_001163814.2 protein_coding - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_001308396.2 protein_coding - - - - - - - - - rs3740485,COSV54550546 3367 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK 56652 Transcript NM_001368275.1 protein_coding - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_001394981.1 protein_coding - - - - - - - - - rs3740485,COSV54550546 3367 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_001394982.1 protein_coding - - - - - - - - - rs3740485,COSV54550546 3367 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_001394983.1 protein_coding - - - - - - - - - rs3740485,COSV54550546 3367 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK 56652 Transcript NM_021830.5 protein_coding - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - EntrezGene HGNC:1160 ENST00000311916.8 - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_032112.3 protein_coding - - - - - - - - - rs3740485,COSV54550546 3367 -1 - EntrezGene HGNC:14517 ENST00000318364.13 - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_176792.3 protein_coding - - - - - - - - - rs3740485,COSV54550546 3367 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_176793.2 protein_coding - - - - - - - - - rs3740485,COSV54550546 3367 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_176794.2 protein_coding - - - - - - - - - rs3740485,COSV54550546 3367 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TWNK 56652 Transcript NR_160738.1 misc_RNA - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TWNK 56652 Transcript NR_160739.1 misc_RNA - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TWNK 56652 Transcript NR_160740.1 misc_RNA - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TWNK 56652 Transcript NR_160741.1 misc_RNA - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TWNK 56652 Transcript NR_160742.1 misc_RNA - 3/4 - - - - - - - rs3740485,COSV54550546 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 84545 Transcript XM_005270231.3 protein_coding - - - - - - - - - rs3740485,COSV54550546 3367 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 84545 Transcript XR_007062007.1 misc_RNA - - - - - - - - - rs3740485,COSV54550546 3367 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990864-100990864 T upstream_gene_variant MODIFIER MRPL43 84545 Transcript XR_246111.6 misc_RNA - - - - - - - - - rs3740485,COSV54550546 3367 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - C C - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000299179.9 protein_coding - - - - - - - - - rs3740486,COSV54550548 3372 -1 - HGNC HGNC:14517 - - 1 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK ENSG00000107815 Transcript ENST00000311916.8 protein_coding - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - HGNC HGNC:1160 NM_021830.5 - 1 P1 - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000318325.6 protein_coding - - - - - - - - - rs3740486,COSV54550548 3369 -1 - HGNC HGNC:14517 - - 1 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000318364.13 protein_coding - - - - - - - - - rs3740486,COSV54550548 3369 -1 - HGNC HGNC:14517 NM_032112.3 - 1 P1 - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000342071.5 protein_coding - - - - - - - - - rs3740486,COSV54550548 3351 -1 - HGNC HGNC:14517 - - 5 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK ENSG00000107815 Transcript ENST00000370228.2 protein_coding - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - HGNC HGNC:1160 - - 1 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000370234.4 protein_coding - - - - - - - - - rs3740486,COSV54550548 3383 -1 - HGNC HGNC:14517 - - 1 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000370236.5 protein_coding - - - - - - - - - rs3740486,COSV54550548 3383 -1 - HGNC HGNC:14517 - - 2 P1 - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000370241.7 protein_coding - - - - - - - - - rs3740486,COSV54550548 3410 -1 - HGNC HGNC:14517 - - 5 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000370242.8 protein_coding - - - - - - - - - rs3740486,COSV54550548 3369 -1 - HGNC HGNC:14517 - - 2 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000448244.5 protein_coding - - - - - - - - - rs3740486,COSV54550548 3433 -1 cds_start_NF HGNC HGNC:14517 - - 5 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C downstream_gene_variant MODIFIER TWNK ENSG00000107815 Transcript ENST00000459764.1 protein_coding - - - - - - - - - rs3740486,COSV54550548 982 1 cds_end_NF HGNC HGNC:1160 - - 3 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK ENSG00000107815 Transcript ENST00000473656.5 protein_coding - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - HGNC HGNC:1160 - - 2 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000476012.5 protein_coding_CDS_not_defined - - - - - - - - - rs3740486,COSV54550548 3596 -1 - HGNC HGNC:14517 - - 1 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK ENSG00000107815 Transcript ENST00000476766.5 protein_coding - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - HGNC HGNC:1160 - - 3 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000477279.1 protein_coding - - - - - - - - - rs3740486,COSV54550548 3351 -1 - HGNC HGNC:14517 - - 2 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C downstream_gene_variant MODIFIER SEMA4G ENSG00000095539 Transcript ENST00000484128.2 protein_coding_CDS_not_defined - - - - - - - - - rs3740486,COSV54550548 4995 1 - HGNC HGNC:10735 - - 2 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000487059.1 retained_intron - - - - - - - - - rs3740486,COSV54550548 3353 -1 - HGNC HGNC:14517 - - 2 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000493646.1 protein_coding_CDS_not_defined - - - - - - - - - rs3740486,COSV54550548 3580 -1 - HGNC HGNC:14517 - - 1 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 ENSG00000055950 Transcript ENST00000523148.5 protein_coding - - - - - - - - - rs3740486,COSV54550548 3670 -1 cds_start_NF HGNC HGNC:14517 - - 3 - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW TWNK ENSG00000107815 Transcript ENST00000643860.1 nonsense_mediated_decay - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - HGNC HGNC:1160 - - - - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TWNK ENSG00000107815 Transcript ENST00000646226.1 retained_intron - 3/3 - - - - - - - rs3740486,COSV54550548 - 1 - HGNC HGNC:1160 - - - - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW TWNK ENSG00000107815 Transcript ENST00000647109.1 nonsense_mediated_decay - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 cds_start_NF HGNC HGNC:1160 - - - - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW TWNK ENSG00000107815 Transcript ENST00000650396.1 nonsense_mediated_decay - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 cds_start_NF HGNC HGNC:1160 - - - - - Ensembl - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK 56652 Transcript NM_001163812.2 protein_coding - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK 56652 Transcript NM_001163813.2 protein_coding - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK 56652 Transcript NM_001163814.2 protein_coding - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_001308396.2 protein_coding - - - - - - - - - rs3740486,COSV54550548 3369 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK 56652 Transcript NM_001368275.1 protein_coding - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_001394981.1 protein_coding - - - - - - - - - rs3740486,COSV54550548 3369 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_001394982.1 protein_coding - - - - - - - - - rs3740486,COSV54550548 3369 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_001394983.1 protein_coding - - - - - - - - - rs3740486,COSV54550548 3369 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW TWNK 56652 Transcript NM_021830.5 protein_coding - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - EntrezGene HGNC:1160 ENST00000311916.8 - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_032112.3 protein_coding - - - - - - - - - rs3740486,COSV54550548 3369 -1 - EntrezGene HGNC:14517 ENST00000318364.13 - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_176792.3 protein_coding - - - - - - - - - rs3740486,COSV54550548 3369 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_176793.2 protein_coding - - - - - - - - - rs3740486,COSV54550548 3369 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 84545 Transcript NM_176794.2 protein_coding - - - - - - - - - rs3740486,COSV54550548 3369 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TWNK 56652 Transcript NR_160738.1 misc_RNA - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TWNK 56652 Transcript NR_160739.1 misc_RNA - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TWNK 56652 Transcript NR_160740.1 misc_RNA - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TWNK 56652 Transcript NR_160741.1 misc_RNA - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW TWNK 56652 Transcript NR_160742.1 misc_RNA - 3/4 - - - - - - - rs3740486,COSV54550548 - 1 - EntrezGene HGNC:1160 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 84545 Transcript XM_005270231.3 protein_coding - - - - - - - - - rs3740486,COSV54550548 3369 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 84545 Transcript XR_007062007.1 misc_RNA - - - - - - - - - rs3740486,COSV54550548 3369 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:100990866-100990866 C upstream_gene_variant MODIFIER MRPL43 84545 Transcript XR_246111.6 misc_RNA - - - - - - - - - rs3740486,COSV54550548 3369 -1 - EntrezGene HGNC:14517 - - - - - RefSeq - T T - - - 0.3760 benign 0,1 1,1 25741868,23250882 - - - - - . 10:101608897-101608897 C downstream_gene_variant MODIFIER FBXW4 ENSG00000107829 Transcript ENST00000331272.9 protein_coding - - - - - - - - - rs7006,COSV58707926 1769 -1 - HGNC HGNC:10847 NM_022039.4 - 1 P2 - Ensembl - T T - - - 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C missense_variant MODERATE DPCD ENSG00000166171 Transcript ENST00000370147.5 protein_coding 6/7 - - - 520 508 170 C/R Tgc/Cgc rs7006,COSV58707926 - 1 - HGNC HGNC:24542 - - 2 - - Ensembl - T T - deleterious_low_confidence(0) probably_damaging(0.922) 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C missense_variant MODERATE DPCD ENSG00000166171 Transcript ENST00000370151.9 protein_coding 5/6 - - - 483 467 156 L/S tTg/tCg rs7006,COSV58707926 - 1 - HGNC HGNC:24542 NM_015448.3 - 1 P1 - Ensembl - T T - tolerated(0.34) benign(0) 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C intron_variant MODIFIER DPCD ENSG00000166171 Transcript ENST00000434727.1 protein_coding - 3/3 - - - - - - - rs7006,COSV58707926 - 1 cds_start_NF HGNC HGNC:24542 - - 3 - - Ensembl - T T - - - 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C downstream_gene_variant MODIFIER FBXW4 ENSG00000107829 Transcript ENST00000470093.5 protein_coding_CDS_not_defined - - - - - - - - - rs7006,COSV58707926 1767 -1 - HGNC HGNC:10847 - - 2 - - Ensembl - T T - - - 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C non_coding_transcript_exon_variant MODIFIER DPCD ENSG00000166171 Transcript ENST00000475443.1 protein_coding_CDS_not_defined 3/4 - - - 289 - - - - rs7006,COSV58707926 - 1 - HGNC HGNC:24542 - - 3 - - Ensembl - T T - - - 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C downstream_gene_variant MODIFIER FBXW4 ENSG00000107829 Transcript ENST00000482428.1 protein_coding_CDS_not_defined - - - - - - - - - rs7006,COSV58707926 2760 -1 - HGNC HGNC:10847 - - 5 - - Ensembl - T T - - - 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C missense_variant MODERATE DPCD ENSG00000166171 Transcript ENST00000626968.2 protein_coding 6/6 - - - 536 508 170 C/R Tgc/Cgc rs7006,COSV58707926 - 1 - HGNC HGNC:24542 - - 5 - - Ensembl - T T - deleterious_low_confidence(0) probably_damaging(0.922) 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C downstream_gene_variant MODIFIER FBXW4 ENSG00000107829 Transcript ENST00000664783.1 protein_coding - - - - - - - - - rs7006,COSV58707926 1770 -1 - HGNC HGNC:10847 - - - A2 - Ensembl - T T - - - 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C downstream_gene_variant MODIFIER FBXW4 6468 Transcript NM_001323541.2 protein_coding - - - - - - - - - rs7006,COSV58707926 1769 -1 - EntrezGene HGNC:10847 - - - - - RefSeq - T T - - - 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C missense_variant MODERATE DPCD 25911 Transcript NM_001329742.2 protein_coding 5/6 - - - 516 500 167 L/S tTg/tCg rs7006,COSV58707926 - 1 - EntrezGene HGNC:24542 - - - - - RefSeq - T T - tolerated(0.3) benign(0.001) 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C missense_variant MODERATE DPCD 25911 Transcript NM_001329743.2 protein_coding 5/6 - - - 447 431 144 L/S tTg/tCg rs7006,COSV58707926 - 1 - EntrezGene HGNC:24542 - - - - - RefSeq - T T - tolerated(0.37) benign(0) 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C missense_variant MODERATE DPCD 25911 Transcript NM_001329744.2 protein_coding 6/7 - - - 524 508 170 C/R Tgc/Cgc rs7006,COSV58707926 - 1 - EntrezGene HGNC:24542 - - - - - RefSeq - T T - deleterious_low_confidence(0) probably_damaging(0.922) 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C missense_variant MODERATE DPCD 25911 Transcript NM_001329745.2 protein_coding 6/7 - - - 556 200 67 L/S tTg/tCg rs7006,COSV58707926 - 1 - EntrezGene HGNC:24542 - - - - - RefSeq - T T - tolerated(0.61) benign(0.026) 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C missense_variant MODERATE DPCD 25911 Transcript NM_015448.3 protein_coding 5/6 - - - 483 467 156 L/S tTg/tCg rs7006,COSV58707926 - 1 - EntrezGene HGNC:24542 ENST00000370151.9 - - - - RefSeq - T T - tolerated(0.34) benign(0) 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C downstream_gene_variant MODIFIER FBXW4 6468 Transcript NM_022039.4 protein_coding - - - - - - - - - rs7006,COSV58707926 1769 -1 - EntrezGene HGNC:10847 ENST00000331272.9 - - - - RefSeq - T T - - - 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C downstream_gene_variant MODIFIER FBXW4 6468 Transcript NR_136613.2 misc_RNA - - - - - - - - - rs7006,COSV58707926 1769 -1 - EntrezGene HGNC:10847 - - - - - RefSeq - T T - - - 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:101608897-101608897 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000949244 enhancer - - - - - - - - - rs7006,COSV58707926 - - - - - - - - - - - - - - - - - 0.2272 benign 0,1 1,1 16385451 - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 ENSG00000120029 Transcript ENST00000311122.5 protein_coding - 2/4 - - - - - - - rs11191190,COSV60750615 - -1 - HGNC HGNC:25788 - - 1 - - Ensembl - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 ENSG00000120029 Transcript ENST00000370033.9 protein_coding - 2/25 - - - - - - - rs11191190,COSV60750615 - -1 - HGNC HGNC:25788 NM_024541.3 - 5 P1 - Ensembl - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript NM_024541.3 protein_coding - 2/25 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 ENST00000370033.9 - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_006717969.1 protein_coding - 2/23 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_011540151.4 protein_coding - 2/25 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_011540152.3 protein_coding - 2/24 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_011540153.3 protein_coding - 2/24 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_011540154.3 protein_coding - 2/23 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_011540157.3 protein_coding - 1/24 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_017016635.2 protein_coding - 2/24 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_017016636.3 protein_coding - 2/24 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_047425733.1 protein_coding - 2/25 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_047425734.1 protein_coding - 2/23 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_047425735.1 protein_coding - 1/23 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_047425736.1 protein_coding - 2/22 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_047425737.1 protein_coding - 2/22 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_047425738.1 protein_coding - 2/22 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant MODIFIER ARMH3 79591 Transcript XM_047425740.1 protein_coding - 2/21 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant,non_coding_transcript_variant MODIFIER ARMH3 79591 Transcript XR_001747199.2 misc_RNA - 2/24 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant,non_coding_transcript_variant MODIFIER ARMH3 79591 Transcript XR_007061987.1 misc_RNA - 2/21 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102040001-102040001 T intron_variant,non_coding_transcript_variant MODIFIER ARMH3 79591 Transcript XR_007061988.1 misc_RNA - 2/15 - - - - - - - rs11191190,COSV60750615 - -1 - EntrezGene HGNC:25788 - - - - - RefSeq - C C - - - 0.3227 - 0,1 0,1 - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 ENSG00000107862 Transcript ENST00000369983.5 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 NM_001377137.1 - 1 P4 - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 ENSG00000107862 Transcript ENST00000673650.1 protein_coding - 24/40 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 ENSG00000107862 Transcript ENST00000674034.1 protein_coding - 24/40 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A upstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000676482.1 nonsense_mediated_decay - - - - - - - - - rs7902882 14 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 ENSG00000107862 Transcript ENST00000676513.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - A1 - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000676560.1 retained_intron - 23/37 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000676673.1 nonsense_mediated_decay - - - - - - - - - rs7902882 1987 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000676682.1 nonsense_mediated_decay - 22/38 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A intron_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000676735.1 protein_coding - 1/1 - - - - - - - rs7902882 - 1 cds_start_NF,cds_end_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000676807.1 retained_intron - 23/26 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000676854.1 nonsense_mediated_decay - - - - - - - - - rs7902882 2691 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000676900.1 nonsense_mediated_decay - - - - - - - - - rs7902882 3598 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A upstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000676927.1 nonsense_mediated_decay - - - - - - - - - rs7902882 514 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 ENSG00000107862 Transcript ENST00000676939.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - A1 - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 ENSG00000107862 Transcript ENST00000676993.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - A1 - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000677017.1 nonsense_mediated_decay - - - - - - - - - rs7902882 2691 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000677098.1 nonsense_mediated_decay - 1/3 - - - - - - - rs7902882 - 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 ENSG00000107862 Transcript ENST00000677240.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - A1 - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 ENSG00000107862 Transcript ENST00000677247.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 ENSG00000107862 Transcript ENST00000677439.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000677487.1 retained_intron - 23/35 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000677506.1 retained_intron - 23/38 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A non_coding_transcript_exon_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000677607.1 retained_intron 1/2 - - - 1443 - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 ENSG00000107862 Transcript ENST00000677618.1 protein_coding - 21/37 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000677627.1 nonsense_mediated_decay - - - - - - - - - rs7902882 3598 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000677629.1 protein_coding_CDS_not_defined - - - - - - - - - rs7902882 1742 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000677655.1 nonsense_mediated_decay - 23/39 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A upstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000677776.1 protein_coding - - - - - - - - - rs7902882 1510 1 cds_start_NF,cds_end_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000677917.1 protein_coding - - - - - - - - - rs7902882 365 1 cds_start_NF,cds_end_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000677975.1 protein_coding_CDS_not_defined - - - - - - - - - rs7902882 1753 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000678007.1 nonsense_mediated_decay - - - - - - - - - rs7902882 365 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000678036.1 nonsense_mediated_decay - 23/39 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000678127.1 protein_coding - - - - - - - - - rs7902882 3598 1 cds_start_NF,cds_end_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A upstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000678319.1 protein_coding - - - - - - - - - rs7902882 1510 1 cds_start_NF,cds_end_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A upstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000678344.1 nonsense_mediated_decay - - - - - - - - - rs7902882 1510 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 ENSG00000107862 Transcript ENST00000678351.1 protein_coding - 21/37 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000678426.1 protein_coding - - - - - - - - - rs7902882 3598 1 cds_start_NF,cds_end_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000678453.1 nonsense_mediated_decay - 1/3 - - - - - - - rs7902882 - 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000678476.1 nonsense_mediated_decay - 23/39 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000678504.1 nonsense_mediated_decay - 23/39 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A upstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000678571.1 nonsense_mediated_decay - - - - - - - - - rs7902882 1510 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000678585.1 retained_intron - 6/22 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000678604.1 protein_coding - - - - - - - - - rs7902882 743 1 cds_start_NF,cds_end_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A upstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000678665.1 protein_coding - - - - - - - - - rs7902882 1510 1 cds_start_NF,cds_end_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000678666.1 retained_intron - 23/38 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000678722.1 nonsense_mediated_decay - 2/3 - - - - - - - rs7902882 - 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000679084.1 nonsense_mediated_decay - - - - - - - - - rs7902882 1637 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000679139.1 protein_coding - - - - - - - - - rs7902882 3598 1 cds_start_NF,cds_end_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000679155.1 nonsense_mediated_decay - 22/38 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000679203.1 nonsense_mediated_decay - - - - - - - - - rs7902882 2691 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 ENSG00000107862 Transcript ENST00000679238.1 protein_coding - 23/37 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000679253.1 nonsense_mediated_decay - - - - - - - - - rs7902882 1987 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 ENSG00000107862 Transcript ENST00000679280.1 retained_intron - 21/37 - - - - - - - rs7902882 - 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000679298.1 protein_coding_CDS_not_defined - - - - - - - - - rs7902882 1325 1 - HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A downstream_gene_variant MODIFIER GBF1 ENSG00000107862 Transcript ENST00000679305.1 nonsense_mediated_decay - - - - - - - - - rs7902882 743 1 cds_start_NF HGNC HGNC:4181 - - - - - Ensembl - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001199378.2 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001199379.2 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001377137.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 ENST00000369983.5 - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001377138.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001377139.1 protein_coding - 21/37 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001377140.1 protein_coding - 21/37 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001377141.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001391922.1 protein_coding - 24/40 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001391923.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001391924.1 protein_coding - 24/40 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001391925.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001391926.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001391927.1 protein_coding - 23/38 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001391928.1 protein_coding - 22/38 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001391929.1 protein_coding - 22/38 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001391930.1 protein_coding - 23/37 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_001391931.1 protein_coding - 21/37 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript NM_004193.3 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 8729 Transcript NR_165085.1 misc_RNA - 21/37 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 8729 Transcript NR_165086.1 misc_RNA - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 8729 Transcript NR_165087.1 misc_RNA - 22/38 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 8729 Transcript NR_165088.1 misc_RNA - 22/38 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 8729 Transcript NR_165089.1 misc_RNA - 22/38 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_006718047.3 protein_coding - 24/40 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_006718048.3 protein_coding - 24/40 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_006718049.3 protein_coding - 24/40 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_011540312.3 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_011540313.3 protein_coding - 24/36 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_011540314.3 protein_coding - 12/28 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_017016861.3 protein_coding - 24/40 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_047425968.1 protein_coding - 24/40 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_047425969.1 protein_coding - 24/40 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_047425970.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_047425971.1 protein_coding - 23/39 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_047425972.1 protein_coding - 22/38 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_047425973.1 protein_coding - 22/38 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_047425974.1 protein_coding - 22/38 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant LOW GBF1 8729 Transcript XM_047425975.1 protein_coding - 22/38 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102369197-102369197 A splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW GBF1 8729 Transcript XR_001747253.3 misc_RNA - 24/27 - - - - - - - rs7902882 - 1 - EntrezGene HGNC:4181 - - - - - RefSeq - T T - - - 0.9882 - - - - - - - - - . 10:102424456-102424456 A intron_variant MODIFIER CUEDC2 ENSG00000107874 Transcript ENST00000369937.5 protein_coding - 4/8 - - - - - - - rs41287462,COSV56523881 - -1 - HGNC HGNC:28352 NM_024040.3 - 1 P1 - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A downstream_gene_variant MODIFIER FBXL15 ENSG00000107872 Transcript ENST00000369956.8 protein_coding - - - - - - - - - rs41287462,COSV56523881 1320 1 - HGNC HGNC:28155 NM_024326.4 - 1 P1 - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A upstream_gene_variant MODIFIER PSD ENSG00000059915 Transcript ENST00000406432.5 protein_coding - - - - - - - - - rs41287462,COSV56523881 4522 -1 - HGNC HGNC:9507 - - 1 P1 - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A downstream_gene_variant MODIFIER FBXL15 ENSG00000107872 Transcript ENST00000425536.1 protein_coding - - - - - - - - - rs41287462,COSV56523881 2268 1 cds_end_NF HGNC HGNC:28155 - - 2 - - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A downstream_gene_variant MODIFIER FBXL15 ENSG00000107872 Transcript ENST00000432590.5 protein_coding - - - - - - - - - rs41287462,COSV56523881 2307 1 cds_end_NF HGNC HGNC:28155 - - 2 - - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A downstream_gene_variant MODIFIER FBXL15 ENSG00000107872 Transcript ENST00000440407.5 protein_coding - - - - - - - - - rs41287462,COSV56523881 2253 1 cds_end_NF HGNC HGNC:28155 - - 5 - - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A downstream_gene_variant MODIFIER FBXL15 ENSG00000107872 Transcript ENST00000457067.1 protein_coding - - - - - - - - - rs41287462,COSV56523881 2944 1 cds_end_NF HGNC HGNC:28155 - - 5 - - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A upstream_gene_variant MODIFIER CUEDC2 ENSG00000107874 Transcript ENST00000465409.1 protein_coding_CDS_not_defined - - - - - - - - - rs41287462,COSV56523881 152 -1 - HGNC HGNC:28352 - - 2 - - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A upstream_gene_variant MODIFIER PSD ENSG00000059915 Transcript ENST00000472685.5 protein_coding_CDS_not_defined - - - - - - - - - rs41287462,COSV56523881 4738 -1 - HGNC HGNC:9507 - - 2 - - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A intron_variant,non_coding_transcript_variant MODIFIER CUEDC2 ENSG00000107874 Transcript ENST00000477994.1 protein_coding_CDS_not_defined - 4/4 - - - - - - - rs41287462,COSV56523881 - -1 - HGNC HGNC:28352 - - 2 - - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A downstream_gene_variant MODIFIER FBXL15 ENSG00000107872 Transcript ENST00000481808.1 protein_coding_CDS_not_defined - - - - - - - - - rs41287462,COSV56523881 3916 1 - HGNC HGNC:28155 - - 4 - - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A intron_variant,non_coding_transcript_variant MODIFIER CUEDC2 ENSG00000107874 Transcript ENST00000486762.6 protein_coding_CDS_not_defined - 3/4 - - - - - - - rs41287462,COSV56523881 - -1 - HGNC HGNC:28352 - - 3 - - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A upstream_gene_variant MODIFIER PSD ENSG00000059915 Transcript ENST00000492902.2 protein_coding_CDS_not_defined - - - - - - - - - rs41287462,COSV56523881 2917 -1 - HGNC HGNC:9507 - - 5 - - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A upstream_gene_variant MODIFIER PSD ENSG00000059915 Transcript ENST00000611678.4 protein_coding - - - - - - - - - rs41287462,COSV56523881 4729 -1 - HGNC HGNC:9507 - - 1 - - Ensembl - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A upstream_gene_variant MODIFIER PSD 5662 Transcript NM_001270965.2 protein_coding - - - - - - - - - rs41287462,COSV56523881 4510 -1 - EntrezGene HGNC:9507 - - - - - RefSeq - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A upstream_gene_variant MODIFIER PSD 5662 Transcript NM_001270966.2 protein_coding - - - - - - - - - rs41287462,COSV56523881 4735 -1 - EntrezGene HGNC:9507 - - - - - RefSeq - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A downstream_gene_variant MODIFIER FBXL15 79176 Transcript NM_001387294.1 protein_coding - - - - - - - - - rs41287462,COSV56523881 1320 1 - EntrezGene HGNC:28155 - - - - - RefSeq - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A intron_variant MODIFIER CUEDC2 79004 Transcript NM_024040.3 protein_coding - 4/8 - - - - - - - rs41287462,COSV56523881 - -1 - EntrezGene HGNC:28352 ENST00000369937.5 - - - - RefSeq - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102424456-102424456 A downstream_gene_variant MODIFIER FBXL15 79176 Transcript NM_024326.4 protein_coding - - - - - - - - - rs41287462,COSV56523881 1320 1 - EntrezGene HGNC:28155 ENST00000369956.8 - - - - RefSeq - G G - - - 0.1973 - 0,1 0,1 - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU ENSG00000107882 Transcript ENST00000369899.6 protein_coding - 3/10 - - - - - - - rs1180701550 - 1 - HGNC HGNC:16466 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU ENSG00000107882 Transcript ENST00000369902.8 protein_coding - 3/11 - - - - - - - rs1180701550 - 1 - HGNC HGNC:16466 NM_016169.4 - 1 P1 - Ensembl - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU ENSG00000107882 Transcript ENST00000423559.2 protein_coding - 3/9 - - - - - - - rs1180701550 - 1 - HGNC HGNC:16466 - - 1 - - Ensembl - G G - - - - - - - - - - - - - . 10:102572932-102572932 A non_coding_transcript_exon_variant MODIFIER RPL23AP58 ENSG00000228657 Transcript ENST00000440453.1 processed_pseudogene 1/1 - - - 294 - - - - rs1180701550 - -1 - HGNC HGNC:36138 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU 51684 Transcript NM_001178133.2 protein_coding - 3/10 - - - - - - - rs1180701550 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU 51684 Transcript NM_016169.4 protein_coding - 3/11 - - - - - - - rs1180701550 - 1 - EntrezGene HGNC:16466 ENST00000369902.8 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU 51684 Transcript XM_011539858.4 protein_coding - 3/12 - - - - - - - rs1180701550 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU 51684 Transcript XM_011539860.4 protein_coding - 3/12 - - - - - - - rs1180701550 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU 51684 Transcript XM_011539861.4 protein_coding - 3/11 - - - - - - - rs1180701550 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU 51684 Transcript XM_011539863.4 protein_coding - 3/12 - - - - - - - rs1180701550 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU 51684 Transcript XM_011539864.3 protein_coding - 3/10 - - - - - - - rs1180701550 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU 51684 Transcript XM_047425335.1 protein_coding - 4/13 - - - - - - - rs1180701550 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU 51684 Transcript XM_047425336.1 protein_coding - 4/13 - - - - - - - rs1180701550 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU 51684 Transcript XM_047425337.1 protein_coding - 4/12 - - - - - - - rs1180701550 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU 51684 Transcript XM_047425338.1 protein_coding - 4/12 - - - - - - - rs1180701550 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:102572932-102572932 A intron_variant MODIFIER SUFU 51684 Transcript XM_047425339.1 protein_coding - 3/12 - - - - - - - rs1180701550 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:102627177-102627177 C splice_region_variant,synonymous_variant LOW SUFU ENSG00000107882 Transcript ENST00000369902.8 protein_coding 11/12 - - - 1480 1299 433 I atT/atC rs17114803,COSV64017293 - 1 - HGNC HGNC:16466 NM_016169.4 - 1 P1 - Ensembl - T T - - - 0.2460 benign 0,1 1,1 25741868,25380769,28421078,23826113,26067905 - - - - - . 10:102627177-102627177 C splice_region_variant,synonymous_variant LOW SUFU 51684 Transcript NM_016169.4 protein_coding 11/12 - - - 1480 1299 433 I atT/atC rs17114803,COSV64017293 - 1 - EntrezGene HGNC:16466 ENST00000369902.8 - - - - RefSeq - T T - - - 0.2460 benign 0,1 1,1 25741868,25380769,28421078,23826113,26067905 - - - - - . 10:102627177-102627177 C splice_region_variant,synonymous_variant LOW SUFU 51684 Transcript XM_011539858.4 protein_coding 12/13 - - - 1609 1428 476 I atT/atC rs17114803,COSV64017293 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.2460 benign 0,1 1,1 25741868,25380769,28421078,23826113,26067905 - - - - - . 10:102627177-102627177 C splice_region_variant,synonymous_variant LOW SUFU 51684 Transcript XM_011539860.4 protein_coding 12/13 - - - 1606 1425 475 I atT/atC rs17114803,COSV64017293 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.2460 benign 0,1 1,1 25741868,25380769,28421078,23826113,26067905 - - - - - . 10:102627177-102627177 C splice_region_variant,synonymous_variant LOW SUFU 51684 Transcript XM_011539861.4 protein_coding 11/12 - - - 1483 1302 434 I atT/atC rs17114803,COSV64017293 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.2460 benign 0,1 1,1 25741868,25380769,28421078,23826113,26067905 - - - - - . 10:102627177-102627177 C splice_region_variant,synonymous_variant LOW SUFU 51684 Transcript XM_011539863.4 protein_coding 12/13 - - - 1414 1254 418 I atT/atC rs17114803,COSV64017293 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.2460 benign 0,1 1,1 25741868,25380769,28421078,23826113,26067905 - - - - - . 10:102627177-102627177 C splice_region_variant,synonymous_variant LOW SUFU 51684 Transcript XM_047425335.1 protein_coding 13/14 - - - 1625 1428 476 I atT/atC rs17114803,COSV64017293 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.2460 benign 0,1 1,1 25741868,25380769,28421078,23826113,26067905 - - - - - . 10:102627177-102627177 C splice_region_variant,synonymous_variant LOW SUFU 51684 Transcript XM_047425336.1 protein_coding 13/14 - - - 1746 1350 450 I atT/atC rs17114803,COSV64017293 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.2460 benign 0,1 1,1 25741868,25380769,28421078,23826113,26067905 - - - - - . 10:102627177-102627177 C splice_region_variant,synonymous_variant LOW SUFU 51684 Transcript XM_047425337.1 protein_coding 12/13 - - - 1620 1224 408 I atT/atC rs17114803,COSV64017293 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.2460 benign 0,1 1,1 25741868,25380769,28421078,23826113,26067905 - - - - - . 10:102627177-102627177 C splice_region_variant,synonymous_variant LOW SUFU 51684 Transcript XM_047425338.1 protein_coding 12/13 - - - 1617 1221 407 I atT/atC rs17114803,COSV64017293 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.2460 benign 0,1 1,1 25741868,25380769,28421078,23826113,26067905 - - - - - . 10:102627177-102627177 C splice_region_variant,synonymous_variant LOW SUFU 51684 Transcript XM_047425339.1 protein_coding 12/13 - - - 1874 1212 404 I atT/atC rs17114803,COSV64017293 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.2460 benign 0,1 1,1 25741868,25380769,28421078,23826113,26067905 - - - - - . 10:102627262-102627262 C intron_variant MODIFIER SUFU ENSG00000107882 Transcript ENST00000369902.8 protein_coding - 11/11 - - - - - - - rs12414407,COSV64017850 - 1 - HGNC HGNC:16466 NM_016169.4 - 1 P1 - Ensembl - T T - - - 0.7196 benign 0,1 1,1 25741868,26627480,23538333,24067507,27617143,34300206 - - - - - . 10:102627262-102627262 C intron_variant MODIFIER SUFU 51684 Transcript NM_016169.4 protein_coding - 11/11 - - - - - - - rs12414407,COSV64017850 - 1 - EntrezGene HGNC:16466 ENST00000369902.8 - - - - RefSeq - T T - - - 0.7196 benign 0,1 1,1 25741868,26627480,23538333,24067507,27617143,34300206 - - - - - . 10:102627262-102627262 C intron_variant MODIFIER SUFU 51684 Transcript XM_011539858.4 protein_coding - 12/12 - - - - - - - rs12414407,COSV64017850 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.7196 benign 0,1 1,1 25741868,26627480,23538333,24067507,27617143,34300206 - - - - - . 10:102627262-102627262 C intron_variant MODIFIER SUFU 51684 Transcript XM_011539860.4 protein_coding - 12/12 - - - - - - - rs12414407,COSV64017850 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.7196 benign 0,1 1,1 25741868,26627480,23538333,24067507,27617143,34300206 - - - - - . 10:102627262-102627262 C intron_variant MODIFIER SUFU 51684 Transcript XM_011539861.4 protein_coding - 11/11 - - - - - - - rs12414407,COSV64017850 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.7196 benign 0,1 1,1 25741868,26627480,23538333,24067507,27617143,34300206 - - - - - . 10:102627262-102627262 C intron_variant MODIFIER SUFU 51684 Transcript XM_011539863.4 protein_coding - 12/12 - - - - - - - rs12414407,COSV64017850 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.7196 benign 0,1 1,1 25741868,26627480,23538333,24067507,27617143,34300206 - - - - - . 10:102627262-102627262 C intron_variant MODIFIER SUFU 51684 Transcript XM_047425335.1 protein_coding - 13/13 - - - - - - - rs12414407,COSV64017850 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.7196 benign 0,1 1,1 25741868,26627480,23538333,24067507,27617143,34300206 - - - - - . 10:102627262-102627262 C intron_variant MODIFIER SUFU 51684 Transcript XM_047425336.1 protein_coding - 13/13 - - - - - - - rs12414407,COSV64017850 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.7196 benign 0,1 1,1 25741868,26627480,23538333,24067507,27617143,34300206 - - - - - . 10:102627262-102627262 C intron_variant MODIFIER SUFU 51684 Transcript XM_047425337.1 protein_coding - 12/12 - - - - - - - rs12414407,COSV64017850 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.7196 benign 0,1 1,1 25741868,26627480,23538333,24067507,27617143,34300206 - - - - - . 10:102627262-102627262 C intron_variant MODIFIER SUFU 51684 Transcript XM_047425338.1 protein_coding - 12/12 - - - - - - - rs12414407,COSV64017850 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.7196 benign 0,1 1,1 25741868,26627480,23538333,24067507,27617143,34300206 - - - - - . 10:102627262-102627262 C intron_variant MODIFIER SUFU 51684 Transcript XM_047425339.1 protein_coding - 12/12 - - - - - - - rs12414407,COSV64017850 - 1 - EntrezGene HGNC:16466 - - - - - RefSeq - T T - - - 0.7196 benign 0,1 1,1 25741868,26627480,23538333,24067507,27617143,34300206 - - - - - . 10:102676884-102676884 T 3_prime_UTR_variant MODIFIER ARL3 ENSG00000138175 Transcript ENST00000260746.6 protein_coding 6/6 - - - 681 - - - - rs8354,COSV53300939 - -1 - HGNC HGNC:694 NM_004311.4 - 1 P1 - Ensembl - C C - - - 0.2065 - 0,1 0,1 16385451,28348047,36204584 - - - - - . 10:102676884-102676884 T 3_prime_UTR_variant MODIFIER ARL3 403 Transcript NM_004311.4 protein_coding 6/6 - - - 681 - - - - rs8354,COSV53300939 - -1 - EntrezGene HGNC:694 ENST00000260746.6 - - - - RefSeq - C C - - - 0.2065 - 0,1 0,1 16385451,28348047,36204584 - - - - - . 10:102676884-102676884 T 3_prime_UTR_variant MODIFIER ARL3 403 Transcript XM_017016260.2 protein_coding 6/6 - - - 923 - - - - rs8354,COSV53300939 - -1 - EntrezGene HGNC:694 - - - - - RefSeq - C C - - - 0.2065 - 0,1 0,1 16385451,28348047,36204584 - - - - - . 10:102876898-102876898 C intron_variant MODIFIER AS3MT ENSG00000214435 Transcript ENST00000369880.8 protein_coding - 6/10 - - - - - - - rs3740393,COSV54916141 - 1 - HGNC HGNC:17452 NM_020682.4 - 1 P1 - Ensembl - G G - - - 0.2103 - 0,1 1,1 27437086,20700443,30612060,29421402,25961286,22383894,21247820,22306368,29323258,30703610,25491248,20014157,21731446,23665909,25156000,26928318,28640505,29859237,30153448,24593923,19680750,23343670,26250961,27352405,29874848,29924282,27637898,28224192,23341986,27370415,21320519,31776483,26631737,26177343,25421534,23070617,29500382,22047162,22917110,23093101,19371612,29942085,30595370,31015401,32606422,32888494,32539094,31918184,31493028,34560273,34223716,35051766,35215497 - - - - - . 10:102876898-102876898 C intron_variant MODIFIER AS3MT 57412 Transcript NM_020682.4 protein_coding - 6/10 - - - - - - - rs3740393,COSV54916141 - 1 - EntrezGene HGNC:17452 ENST00000369880.8 - - - - RefSeq - G G - - - 0.2103 - 0,1 1,1 27437086,20700443,30612060,29421402,25961286,22383894,21247820,22306368,29323258,30703610,25491248,20014157,21731446,23665909,25156000,26928318,28640505,29859237,30153448,24593923,19680750,23343670,26250961,27352405,29874848,29924282,27637898,28224192,23341986,27370415,21320519,31776483,26631737,26177343,25421534,23070617,29500382,22047162,22917110,23093101,19371612,29942085,30595370,31015401,32606422,32888494,32539094,31918184,31493028,34560273,34223716,35051766,35215497 - - - - - . 10:102876898-102876898 C intron_variant,non_coding_transcript_variant MODIFIER BORCS7-ASMT 100528007 Transcript NR_037644.1 lncRNA - 10/14 - - - - - - - rs3740393,COSV54916141 - 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.2103 - 0,1 1,1 27437086,20700443,30612060,29421402,25961286,22383894,21247820,22306368,29323258,30703610,25491248,20014157,21731446,23665909,25156000,26928318,28640505,29859237,30153448,24593923,19680750,23343670,26250961,27352405,29874848,29924282,27637898,28224192,23341986,27370415,21320519,31776483,26631737,26177343,25421534,23070617,29500382,22047162,22917110,23093101,19371612,29942085,30595370,31015401,32606422,32888494,32539094,31918184,31493028,34560273,34223716,35051766,35215497 - - - - - . 10:103054405-103054405 C synonymous_variant LOW CNNM2 ENSG00000148842 Transcript ENST00000369878.9 protein_coding 3/8 - - - 2029 1842 614 S agT/agC rs2275271,COSV63997523 - 1 - HGNC HGNC:103 NM_017649.5 - 1 P4 - Ensembl - T T - - - 0.4325 benign 0,1 1,1 26451028,27004590 - - - - - . 10:103054405-103054405 C synonymous_variant LOW CNNM2 ENSG00000148842 Transcript ENST00000433628.2 protein_coding 3/7 - - - 1966 1842 614 S agT/agC rs2275271,COSV63997523 - 1 - HGNC HGNC:103 - - 2 A1 - Ensembl - T T - - - 0.4325 benign 0,1 1,1 26451028,27004590 - - - - - . 10:103054405-103054405 C synonymous_variant LOW CNNM2 54805 Transcript NM_017649.5 protein_coding 3/8 - - - 2029 1842 614 S agT/agC rs2275271,COSV63997523 - 1 - EntrezGene HGNC:103 ENST00000369878.9 - - - - RefSeq - T T - - - 0.4325 benign 0,1 1,1 26451028,27004590 - - - - - . 10:103054405-103054405 C synonymous_variant LOW CNNM2 54805 Transcript NM_199076.3 protein_coding 3/7 - - - 2029 1842 614 S agT/agC rs2275271,COSV63997523 - 1 - EntrezGene HGNC:103 - - - - - RefSeq - T T - - - 0.4325 benign 0,1 1,1 26451028,27004590 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000343289.9 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - 1 P1 - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000369857.9 nonsense_mediated_decay - 16/18 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - 2 - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A downstream_gene_variant MODIFIER CNNM2 ENSG00000148842 Transcript ENST00000369878.9 protein_coding - - - - - - - - - rs10883830 1306 1 - HGNC HGNC:103 NM_017649.5 - 1 P4 - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000404739.8 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 NM_001351169.2 - 1 P1 - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000421281.1 protein_coding - 4/5 - - - - - - - rs10883830 - -1 cds_start_NF,cds_end_NF HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000469228.1 retained_intron - - - - - - - - - rs10883830 2204 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000470299.2 nonsense_mediated_decay - - - - - - - - - rs10883830 1745 -1 - HGNC HGNC:8022 - - 5 - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674728.1 nonsense_mediated_decay - 15/17 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674860.1 protein_coding - 18/20 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675020.1 nonsense_mediated_decay - 16/18 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675040.1 nonsense_mediated_decay - 16/18 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 17/19 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675436.1 nonsense_mediated_decay - 17/19 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675645.1 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675811.1 nonsense_mediated_decay - 18/20 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675985.1 protein_coding - 14/16 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001134373.3 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351169.2 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 ENST00000404739.8 - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351170.2 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351171.2 protein_coding - 17/19 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351172.2 protein_coding - 17/19 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351173.2 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351174.1 protein_coding - 14/16 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351175.2 protein_coding - 17/19 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351176.2 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351177.2 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351178.2 protein_coding - 18/20 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351179.2 protein_coding - 17/19 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351180.2 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351181.2 protein_coding - 13/15 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351182.2 protein_coding - 17/19 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351183.2 protein_coding - 14/16 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351184.2 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351185.2 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351186.2 protein_coding - 18/20 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351187.2 protein_coding - 19/21 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351188.2 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351189.2 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351190.2 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351191.1 protein_coding - 14/16 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351192.1 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351193.1 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351194.2 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351195.2 protein_coding - 17/19 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351196.2 protein_coding - 18/20 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351197.2 protein_coding - 17/19 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript NM_012229.5 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A downstream_gene_variant MODIFIER CNNM2 54805 Transcript NM_017649.5 protein_coding - - - - - - - - - rs10883830 1306 1 - EntrezGene HGNC:103 ENST00000369878.9 - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A downstream_gene_variant MODIFIER CNNM2 54805 Transcript NM_199076.3 protein_coding - - - - - - - - - rs10883830 1306 1 - EntrezGene HGNC:103 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_005269637.6 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_011539537.2 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_017015947.3 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_024447901.2 protein_coding - 17/19 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_024447902.2 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_024447903.2 protein_coding - 14/16 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424844.1 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424845.1 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424846.1 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424847.1 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424848.1 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424849.1 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424850.1 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424851.1 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424852.1 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424853.1 protein_coding - 16/18 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424854.1 protein_coding - 14/16 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424855.1 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424856.1 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424857.1 protein_coding - 15/17 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424858.1 protein_coding - 12/14 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091528-103091528 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424859.1 protein_coding - 9/11 - - - - - - - rs10883830 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2686 benign - 1 21712425 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000343289.9 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - 1 P1 - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000369857.9 nonsense_mediated_decay - 16/18 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - 2 - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T downstream_gene_variant MODIFIER CNNM2 ENSG00000148842 Transcript ENST00000369878.9 protein_coding - - - - - - - - - rs17094683 1322 1 - HGNC HGNC:103 NM_017649.5 - 1 P4 - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000404739.8 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 NM_001351169.2 - 1 P1 - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000421281.1 protein_coding - 4/5 - - - - - - - rs17094683 - -1 cds_start_NF,cds_end_NF HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000469228.1 retained_intron - - - - - - - - - rs17094683 2188 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000470299.2 nonsense_mediated_decay - - - - - - - - - rs17094683 1729 -1 - HGNC HGNC:8022 - - 5 - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674728.1 nonsense_mediated_decay - 15/17 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674860.1 protein_coding - 18/20 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675020.1 nonsense_mediated_decay - 16/18 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675040.1 nonsense_mediated_decay - 16/18 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 17/19 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675436.1 nonsense_mediated_decay - 17/19 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675645.1 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675811.1 nonsense_mediated_decay - 18/20 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675985.1 protein_coding - 14/16 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001134373.3 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351169.2 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 ENST00000404739.8 - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351170.2 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351171.2 protein_coding - 17/19 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351172.2 protein_coding - 17/19 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351173.2 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351174.1 protein_coding - 14/16 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351175.2 protein_coding - 17/19 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351176.2 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351177.2 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351178.2 protein_coding - 18/20 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351179.2 protein_coding - 17/19 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351180.2 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351181.2 protein_coding - 13/15 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351182.2 protein_coding - 17/19 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351183.2 protein_coding - 14/16 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351184.2 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351185.2 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351186.2 protein_coding - 18/20 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351187.2 protein_coding - 19/21 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351188.2 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351189.2 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351190.2 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351191.1 protein_coding - 14/16 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351192.1 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351193.1 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351194.2 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351195.2 protein_coding - 17/19 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351196.2 protein_coding - 18/20 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351197.2 protein_coding - 17/19 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript NM_012229.5 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T downstream_gene_variant MODIFIER CNNM2 54805 Transcript NM_017649.5 protein_coding - - - - - - - - - rs17094683 1322 1 - EntrezGene HGNC:103 ENST00000369878.9 - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T downstream_gene_variant MODIFIER CNNM2 54805 Transcript NM_199076.3 protein_coding - - - - - - - - - rs17094683 1322 1 - EntrezGene HGNC:103 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_005269637.6 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_011539537.2 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_017015947.3 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_024447901.2 protein_coding - 17/19 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_024447902.2 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_024447903.2 protein_coding - 14/16 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424844.1 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424845.1 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424846.1 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424847.1 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424848.1 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424849.1 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424850.1 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424851.1 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424852.1 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424853.1 protein_coding - 16/18 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424854.1 protein_coding - 14/16 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424855.1 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424856.1 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424857.1 protein_coding - 15/17 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424858.1 protein_coding - 12/14 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091544-103091544 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424859.1 protein_coding - 9/11 - - - - - - - rs17094683 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.1566 benign - 1 25380769,21712425,23894747,27901213,35125885 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000343289.9 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - 1 P1 - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000369857.9 nonsense_mediated_decay - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - 2 - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T downstream_gene_variant MODIFIER CNNM2 ENSG00000148842 Transcript ENST00000369878.9 protein_coding - - - - - - - - - rs11191553,COSV58414866 1417 1 - HGNC HGNC:103 NM_017649.5 - 1 P4 - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000404739.8 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 NM_001351169.2 - 1 P1 - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000421281.1 protein_coding - 3/5 - - - - - - - rs11191553,COSV58414866 - -1 cds_start_NF,cds_end_NF HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000469228.1 retained_intron - - - - - - - - - rs11191553,COSV58414866 2093 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000470299.2 nonsense_mediated_decay - - - - - - - - - rs11191553,COSV58414866 1634 -1 - HGNC HGNC:8022 - - 5 - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674728.1 nonsense_mediated_decay - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674860.1 protein_coding - 17/20 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675020.1 nonsense_mediated_decay - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675040.1 nonsense_mediated_decay - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 16/19 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675436.1 nonsense_mediated_decay - 16/19 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675645.1 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675811.1 nonsense_mediated_decay - 17/20 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675985.1 protein_coding - 13/16 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001134373.3 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351169.2 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 ENST00000404739.8 - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351170.2 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351171.2 protein_coding - 16/19 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351172.2 protein_coding - 16/19 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351173.2 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351174.1 protein_coding - 13/16 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351175.2 protein_coding - 16/19 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351176.2 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351177.2 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351178.2 protein_coding - 17/20 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351179.2 protein_coding - 16/19 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351180.2 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351181.2 protein_coding - 12/15 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351182.2 protein_coding - 16/19 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351183.2 protein_coding - 13/16 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351184.2 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351185.2 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351186.2 protein_coding - 17/20 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351187.2 protein_coding - 18/21 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351188.2 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351189.2 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351190.2 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351191.1 protein_coding - 13/16 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351192.1 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351193.1 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351194.2 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351195.2 protein_coding - 16/19 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351196.2 protein_coding - 17/20 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_001351197.2 protein_coding - 16/19 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript NM_012229.5 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T downstream_gene_variant MODIFIER CNNM2 54805 Transcript NM_017649.5 protein_coding - - - - - - - - - rs11191553,COSV58414866 1417 1 - EntrezGene HGNC:103 ENST00000369878.9 - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T downstream_gene_variant MODIFIER CNNM2 54805 Transcript NM_199076.3 protein_coding - - - - - - - - - rs11191553,COSV58414866 1417 1 - EntrezGene HGNC:103 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_005269637.6 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_011539537.2 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_017015947.3 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_024447901.2 protein_coding - 16/19 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_024447902.2 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_024447903.2 protein_coding - 13/16 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424844.1 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424845.1 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424846.1 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424847.1 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424848.1 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424849.1 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424850.1 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424851.1 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424852.1 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424853.1 protein_coding - 15/18 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424854.1 protein_coding - 13/16 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424855.1 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424856.1 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424857.1 protein_coding - 14/17 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424858.1 protein_coding - 11/14 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091639-103091639 T intron_variant MODIFIER NT5C2 22978 Transcript XM_047424859.1 protein_coding - 8/11 - - - - - - - rs11191553,COSV58414866 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2688 benign 0,1 1,1 21712425,23677058,35335935 - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000343289.9 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - 1 P1 - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000369857.9 nonsense_mediated_decay - 15/18 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - 2 - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A downstream_gene_variant MODIFIER CNNM2 ENSG00000148842 Transcript ENST00000369878.9 protein_coding - - - - - - - - - rs79438485 1421 1 - HGNC HGNC:103 NM_017649.5 - 1 P4 - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000404739.8 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 NM_001351169.2 - 1 P1 - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000421281.1 protein_coding - 3/5 - - - - - - - rs79438485 - -1 cds_start_NF,cds_end_NF HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000469228.1 retained_intron - - - - - - - - - rs79438485 2089 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000470299.2 nonsense_mediated_decay - - - - - - - - - rs79438485 1630 -1 - HGNC HGNC:8022 - - 5 - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674728.1 nonsense_mediated_decay - 14/17 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674860.1 protein_coding - 17/20 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675020.1 nonsense_mediated_decay - 15/18 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675040.1 nonsense_mediated_decay - 15/18 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 16/19 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675436.1 nonsense_mediated_decay - 16/19 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675645.1 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675811.1 nonsense_mediated_decay - 17/20 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675985.1 protein_coding - 13/16 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001134373.3 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351169.2 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 ENST00000404739.8 - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351170.2 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351171.2 protein_coding - 16/19 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351172.2 protein_coding - 16/19 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351173.2 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351174.1 protein_coding - 13/16 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351175.2 protein_coding - 16/19 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351176.2 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351177.2 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351178.2 protein_coding - 17/20 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351179.2 protein_coding - 16/19 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351180.2 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351181.2 protein_coding - 12/15 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351182.2 protein_coding - 16/19 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351183.2 protein_coding - 13/16 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351184.2 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351185.2 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351186.2 protein_coding - 17/20 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351187.2 protein_coding - 18/21 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351188.2 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351189.2 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351190.2 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351191.1 protein_coding - 13/16 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351192.1 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351193.1 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351194.2 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351195.2 protein_coding - 16/19 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351196.2 protein_coding - 17/20 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351197.2 protein_coding - 16/19 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript NM_012229.5 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A downstream_gene_variant MODIFIER CNNM2 54805 Transcript NM_017649.5 protein_coding - - - - - - - - - rs79438485 1421 1 - EntrezGene HGNC:103 ENST00000369878.9 - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A downstream_gene_variant MODIFIER CNNM2 54805 Transcript NM_199076.3 protein_coding - - - - - - - - - rs79438485 1421 1 - EntrezGene HGNC:103 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_005269637.6 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_011539537.2 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_017015947.3 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_024447901.2 protein_coding - 16/19 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_024447902.2 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_024447903.2 protein_coding - 13/16 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424844.1 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424845.1 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424846.1 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424847.1 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424848.1 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424849.1 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424850.1 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424851.1 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424852.1 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424853.1 protein_coding - 15/18 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424854.1 protein_coding - 13/16 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424855.1 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424856.1 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424857.1 protein_coding - 14/17 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424858.1 protein_coding - 11/14 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103091643-103091643 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424859.1 protein_coding - 8/11 - - - - - - - rs79438485 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.0437 benign - 1 - - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000343289.9 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - 1 P1 - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000369857.9 nonsense_mediated_decay - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - 2 - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000404739.8 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 NM_001351169.2 - 1 P1 - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C upstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000421281.1 protein_coding - - - - - - - - - rs1926030,COSV58415391 1531 -1 cds_start_NF,cds_end_NF HGNC HGNC:8022 - - 3 - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000452156.5 protein_coding_CDS_not_defined - - - - - - - - - rs1926030,COSV58415391 1392 -1 - HGNC HGNC:8022 - - 5 - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000458345.5 retained_intron - - - - - - - - - rs1926030,COSV58415391 2073 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000461461.5 nonsense_mediated_decay - - - - - - - - - rs1926030,COSV58415391 1409 -1 - HGNC HGNC:8022 - - 5 - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C upstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000469228.1 retained_intron - - - - - - - - - rs1926030,COSV58415391 1364 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000470228.5 retained_intron - - - - - - - - - rs1926030,COSV58415391 2493 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000470299.2 nonsense_mediated_decay - 11/13 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - 5 - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000481549.1 protein_coding_CDS_not_defined - - - - - - - - - rs1926030,COSV58415391 4969 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000487810.5 protein_coding_CDS_not_defined - - - - - - - - - rs1926030,COSV58415391 4027 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000552185.5 nonsense_mediated_decay - - - - - - - - - rs1926030,COSV58415391 3072 -1 cds_start_NF HGNC HGNC:8022 - - 4 - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674728.1 nonsense_mediated_decay - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674860.1 protein_coding - 14/20 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675020.1 nonsense_mediated_decay - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675040.1 nonsense_mediated_decay - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 13/19 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675436.1 nonsense_mediated_decay - 13/19 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675645.1 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675811.1 nonsense_mediated_decay - 14/20 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675985.1 protein_coding - 10/16 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - - - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001134373.3 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351169.2 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 ENST00000404739.8 - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351170.2 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351171.2 protein_coding - 13/19 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351172.2 protein_coding - 13/19 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351173.2 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351174.1 protein_coding - 10/16 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T OK - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351175.2 protein_coding - 13/19 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351176.2 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351177.2 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351178.2 protein_coding - 14/20 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351179.2 protein_coding - 13/19 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351180.2 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351181.2 protein_coding - 9/15 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351182.2 protein_coding - 13/19 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351183.2 protein_coding - 10/16 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351184.2 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351185.2 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351186.2 protein_coding - 14/20 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351187.2 protein_coding - 15/21 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351188.2 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351189.2 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351190.2 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351191.1 protein_coding - 10/16 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T OK - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351192.1 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T OK - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351193.1 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T OK - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351194.2 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351195.2 protein_coding - 13/19 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351196.2 protein_coding - 14/20 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_001351197.2 protein_coding - 13/19 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript NM_012229.5 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_005269637.6 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_011539537.2 protein_coding - 13/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_017015947.3 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_024447901.2 protein_coding - 13/19 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_024447902.2 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_024447903.2 protein_coding - 10/16 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424844.1 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424845.1 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424846.1 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424847.1 protein_coding - 12/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424848.1 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424849.1 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424850.1 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424851.1 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424852.1 protein_coding - 12/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424853.1 protein_coding - 13/18 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424854.1 protein_coding - 11/16 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424855.1 protein_coding - 12/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424856.1 protein_coding - 12/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424857.1 protein_coding - 11/17 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424858.1 protein_coding - 8/14 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095899-103095899 C intron_variant MODIFIER NT5C2 22978 Transcript XM_047424859.1 protein_coding - 5/11 - - - - - - - rs1926030,COSV58415391 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - T T - - - 0.4433 benign 0,1 1,1 21712425,28521044,30595370 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000343289.9 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - 1 P1 - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000369857.9 nonsense_mediated_decay - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - 2 - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000404739.8 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 NM_001351169.2 - 1 P1 - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A upstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000421281.1 protein_coding - - - - - - - - - rs1926029,COSV58417337 1545 -1 cds_start_NF,cds_end_NF HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000452156.5 protein_coding_CDS_not_defined - - - - - - - - - rs1926029,COSV58417337 1378 -1 - HGNC HGNC:8022 - - 5 - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000458345.5 retained_intron - - - - - - - - - rs1926029,COSV58417337 2059 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000461461.5 nonsense_mediated_decay - - - - - - - - - rs1926029,COSV58417337 1395 -1 - HGNC HGNC:8022 - - 5 - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A upstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000469228.1 retained_intron - - - - - - - - - rs1926029,COSV58417337 1378 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000470228.5 retained_intron - - - - - - - - - rs1926029,COSV58417337 2479 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000470299.2 nonsense_mediated_decay - 11/13 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - 5 - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000481549.1 protein_coding_CDS_not_defined - - - - - - - - - rs1926029,COSV58417337 4955 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000487810.5 protein_coding_CDS_not_defined - - - - - - - - - rs1926029,COSV58417337 4013 -1 - HGNC HGNC:8022 - - 3 - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A downstream_gene_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000552185.5 nonsense_mediated_decay - - - - - - - - - rs1926029,COSV58417337 3058 -1 cds_start_NF HGNC HGNC:8022 - - 4 - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674728.1 nonsense_mediated_decay - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674860.1 protein_coding - 14/20 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675020.1 nonsense_mediated_decay - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675040.1 nonsense_mediated_decay - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 13/19 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675436.1 nonsense_mediated_decay - 13/19 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675645.1 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675811.1 nonsense_mediated_decay - 14/20 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675985.1 protein_coding - 10/16 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - - - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001134373.3 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351169.2 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 ENST00000404739.8 - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351170.2 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351171.2 protein_coding - 13/19 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351172.2 protein_coding - 13/19 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351173.2 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351174.1 protein_coding - 10/16 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351175.2 protein_coding - 13/19 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351176.2 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351177.2 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351178.2 protein_coding - 14/20 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351179.2 protein_coding - 13/19 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351180.2 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351181.2 protein_coding - 9/15 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351182.2 protein_coding - 13/19 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351183.2 protein_coding - 10/16 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351184.2 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351185.2 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351186.2 protein_coding - 14/20 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351187.2 protein_coding - 15/21 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351188.2 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351189.2 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351190.2 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351191.1 protein_coding - 10/16 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351192.1 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351193.1 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G OK - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351194.2 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351195.2 protein_coding - 13/19 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351196.2 protein_coding - 14/20 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_001351197.2 protein_coding - 13/19 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript NM_012229.5 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_005269637.6 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_011539537.2 protein_coding - 13/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_017015947.3 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_024447901.2 protein_coding - 13/19 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_024447902.2 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_024447903.2 protein_coding - 10/16 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424844.1 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424845.1 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424846.1 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424847.1 protein_coding - 12/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424848.1 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424849.1 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424850.1 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424851.1 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424852.1 protein_coding - 12/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424853.1 protein_coding - 13/18 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424854.1 protein_coding - 11/16 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424855.1 protein_coding - 12/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424856.1 protein_coding - 12/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424857.1 protein_coding - 11/17 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424858.1 protein_coding - 8/14 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103095913-103095913 A intron_variant MODIFIER NT5C2 22978 Transcript XM_047424859.1 protein_coding - 5/11 - - - - - - - rs1926029,COSV58417337 - -1 - EntrezGene HGNC:8022 - - - - - RefSeq - G G - - - 0.2684 benign 0,1 1,1 25162786,21712425,22383894 - - - - - . 10:103216166-103216166 G non_coding_transcript_exon_variant MODIFIER ST13P13 ENSG00000229256 Transcript ENST00000417082.1 processed_pseudogene 1/1 - - - 458 - - - - - - 1 - HGNC HGNC:38788 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:103216166-103216166 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 1/17 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216166-103216166 G intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 1/19 - - - - - - - - - -1 - HGNC HGNC:8022 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:103216166-103216166 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 1/18 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216166-103216166 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 1/18 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216166-103216166 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 1/17 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216166-103216166 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001181215 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:103216252-103216252 G non_coding_transcript_exon_variant MODIFIER ST13P13 ENSG00000229256 Transcript ENST00000417082.1 processed_pseudogene 1/1 - - - 544 - - - - - - 1 - HGNC HGNC:38788 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:103216252-103216252 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 1/17 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216252-103216252 G intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 1/19 - - - - - - - - - -1 - HGNC HGNC:8022 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:103216252-103216252 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 1/18 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216252-103216252 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 1/18 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216252-103216252 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 1/17 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216252-103216252 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001181215 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:103216347-103216347 C non_coding_transcript_exon_variant MODIFIER ST13P13 ENSG00000229256 Transcript ENST00000417082.1 processed_pseudogene 1/1 - - - 639 - - - - rs1208446501 - 1 - HGNC HGNC:38788 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:103216347-103216347 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 1/17 - - - - - - - rs1208446501 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:103216347-103216347 C intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 1/19 - - - - - - - rs1208446501 - -1 - HGNC HGNC:8022 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:103216347-103216347 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 1/18 - - - - - - - rs1208446501 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:103216347-103216347 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 1/18 - - - - - - - rs1208446501 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:103216347-103216347 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 1/17 - - - - - - - rs1208446501 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:103216347-103216347 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001181215 enhancer - - - - - - - - - rs1208446501 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:103216395-103216395 G non_coding_transcript_exon_variant MODIFIER ST13P13 ENSG00000229256 Transcript ENST00000417082.1 processed_pseudogene 1/1 - - - 687 - - - - - - 1 - HGNC HGNC:38788 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:103216395-103216395 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 1/17 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216395-103216395 G intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 1/19 - - - - - - - - - -1 - HGNC HGNC:8022 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:103216395-103216395 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 1/18 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216395-103216395 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 1/18 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216395-103216395 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 1/17 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216395-103216395 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001181215 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:103216395-103216395 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00167621324 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0523 14 N 0.004 TEAD4::CEBPD . 10:103216395-103216395 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM01051895263 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0554 16 N 0.004 TEAD4::HES7 . 10:103216425-103216425 G non_coding_transcript_exon_variant MODIFIER ST13P13 ENSG00000229256 Transcript ENST00000417082.1 processed_pseudogene 1/1 - - - 717 - - - - - - 1 - HGNC HGNC:38788 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:103216425-103216425 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 1/17 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216425-103216425 G intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 1/19 - - - - - - - - - -1 - HGNC HGNC:8022 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:103216425-103216425 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 1/18 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216425-103216425 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 1/18 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216425-103216425 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 1/17 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216425-103216425 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001181215 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:103216425-103216425 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208804173 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0579 22 N -0.001 TEAD4::SPDEF . 10:103216425-103216425 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208129826 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0522 8 Y -0.090 TEAD4::CEBPD . 10:103216505-103216505 G non_coding_transcript_exon_variant MODIFIER ST13P13 ENSG00000229256 Transcript ENST00000417082.1 processed_pseudogene 1/1 - - - 797 - - - - - - 1 - HGNC HGNC:38788 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:103216505-103216505 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 1/17 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216505-103216505 G intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 1/19 - - - - - - - - - -1 - HGNC HGNC:8022 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:103216505-103216505 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 1/18 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216505-103216505 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 1/18 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216505-103216505 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 1/17 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216505-103216505 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001181215 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:103216505-103216505 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208729440 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0543 12 N 0.012 TEAD4::ETV7 . 10:103216573-103216573 G non_coding_transcript_exon_variant MODIFIER ST13P13 ENSG00000229256 Transcript ENST00000417082.1 processed_pseudogene 1/1 - - - 865 - - - - rs3977753 - 1 - HGNC HGNC:38788 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:103216573-103216573 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 1/17 - - - - - - - rs3977753 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:103216573-103216573 G intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 1/19 - - - - - - - rs3977753 - -1 - HGNC HGNC:8022 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:103216573-103216573 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 1/18 - - - - - - - rs3977753 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:103216573-103216573 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 1/18 - - - - - - - rs3977753 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:103216573-103216573 G intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 1/17 - - - - - - - rs3977753 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:103216573-103216573 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001181215 enhancer - - - - - - - - - rs3977753 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:103216573-103216573 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00187390178 - - - - - - - - - - rs3977753 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0545 18 Y -0.040 TEAD4::FIGLA . 10:103216573-103216573 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00183293872 - - - - - - - - - - rs3977753 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0567 10 Y -0.068 TEAD4::ONECUT2 . 10:103216573-103216573 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00185067392 - - - - - - - - - - rs3977753 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0572 10 N 0.002 TEAD4::PITX1 . 10:103216573-103216573 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00183597185 - - - - - - - - - - rs3977753 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0547 19 N -0.008 TEAD4::FOXI1 . 10:103216573-103216573 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00182988698 - - - - - - - - - - rs3977753 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0559 10 N -0.005 TEAD4::HOXA13 . 10:103216573-103216573 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208319946 - - - - - - - - - - rs3977753 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0560 10 N -0.005 TEAD4::HOXA2,TEAD4::HOXA3 . 10:103216573-103216573 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00186482749 - - - - - - - - - - rs3977753 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0571 10 N -0.012 TEAD4::PITX1 . 10:103216610-103216610 T non_coding_transcript_exon_variant MODIFIER ST13P13 ENSG00000229256 Transcript ENST00000417082.1 processed_pseudogene 1/1 - - - 902 - - - - rs3977754 - 1 - HGNC HGNC:38788 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:103216610-103216610 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 1/17 - - - - - - - rs3977754 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - C C - - - - - - - - - - - - - . 10:103216610-103216610 T intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 1/19 - - - - - - - rs3977754 - -1 - HGNC HGNC:8022 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:103216610-103216610 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 1/18 - - - - - - - rs3977754 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - C C - - - - - - - - - - - - - . 10:103216610-103216610 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 1/18 - - - - - - - rs3977754 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - C C - - - - - - - - - - - - - . 10:103216610-103216610 T intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 1/17 - - - - - - - rs3977754 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - C C - - - - - - - - - - - - - . 10:103216610-103216610 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001181215 enhancer - - - - - - - - - rs3977754 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:103216610-103216610 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00159722857 - - - - - - - - - - rs3977754 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0540 8 N 0.007 TEAD4::ERG . 10:103216610-103216610 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00183187916 - - - - - - - - - - rs3977754 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0573 12 N -0.005 TEAD4::RFX5 . 10:103216610-103216610 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00161091909 - - - - - - - - - - rs3977754 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0532 12 N -0.016 TEAD4::ELK1 . 10:103216610-103216610 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208350814 - - - - - - - - - - rs3977754 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0525 14 Y -0.110 TEAD4::CLOCK,TEAD4::HES7 . 10:103216610-103216610 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00161558465 - - - - - - - - - - rs3977754 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0536 9 N -0.004 TEAD4::EOMES,TEAD4::TBX21 . 10:103216610-103216610 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00184338218 - - - - - - - - - - rs3977754 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0558 13 N -0.005 TEAD4::HOXA13 . 10:103216610-103216610 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208464913 - - - - - - - - - - rs3977754 - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0564 12 N 0.002 TEAD4::MAX . 10:103216744-103216744 C non_coding_transcript_exon_variant MODIFIER ST13P13 ENSG00000229256 Transcript ENST00000417082.1 processed_pseudogene 1/1 - - - 1036 - - - - - - 1 - HGNC HGNC:38788 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:103216744-103216744 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 1/17 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216744-103216744 C intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 1/19 - - - - - - - - - -1 - HGNC HGNC:8022 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:103216744-103216744 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 1/18 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216744-103216744 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 1/18 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216744-103216744 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 1/17 - - - - - - - - - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - A A - - - - - - - - - - - - - . 10:103216744-103216744 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001181215 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:103216744-103216744 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208154958 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0520 1 N -0.059 TEAD4::ALX4 . 10:103216744-103216744 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00204131316 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0565 16 Y -0.121 TEAD4::MAX . 10:103216744-103216744 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00186647176 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0576 2 N -0.030 TEAD4::SOX15 . 10:103216744-103216744 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00187141315 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0570 16 N -0.038 TEAD4::PITX1 . 10:103216744-103216744 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00166655188 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0549 26 Y -0.040 TEAD4::FOXI1 . 10:103216744-103216744 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208536706 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0555 16 N -0.021 TEAD4::HES7 . 10:103216761-103216761 C non_coding_transcript_exon_variant MODIFIER ST13P13 ENSG00000229256 Transcript ENST00000417082.1 processed_pseudogene 1/1 - - - 1053 - - - - rs1444199125 - 1 - HGNC HGNC:38788 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:103216761-103216761 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000674696.1 protein_coding - 1/17 - - - - - - - rs1444199125 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:103216761-103216761 C intron_variant,NMD_transcript_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675164.1 nonsense_mediated_decay - 1/19 - - - - - - - rs1444199125 - -1 - HGNC HGNC:8022 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:103216761-103216761 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000675326.1 protein_coding - 1/18 - - - - - - - rs1444199125 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:103216761-103216761 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676428.1 protein_coding - 1/18 - - - - - - - rs1444199125 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:103216761-103216761 C intron_variant MODIFIER NT5C2 ENSG00000076685 Transcript ENST00000676449.1 protein_coding - 1/17 - - - - - - - rs1444199125 - -1 - HGNC HGNC:8022 - - - P1 - Ensembl - T T - - - - - - - - - - - - - . 10:103216761-103216761 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001181215 enhancer - - - - - - - - - rs1444199125 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:103216761-103216761 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00167056230 - - - - - - - - - - rs1444199125 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0550 7 N 0.014 TEAD4::FOXI1 . 10:103216761-103216761 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00208154958 - - - - - - - - - - rs1444199125 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0520 18 N 0.015 TEAD4::ALX4 . 10:103394332-103394332 G intron_variant MODIFIER ATP5MK ENSG00000173915 Transcript ENST00000309579.7 protein_coding - 1/3 - - - - - - - rs7911488,CR159670,COSV58915207 - -1 - HGNC HGNC:30889 - - 1 P1 - Ensembl - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G 5_prime_UTR_variant MODIFIER ATP5MK ENSG00000173915 Transcript ENST00000337003.4 protein_coding 2/5 - - - 121 - - - - rs7911488,CR159670,COSV58915207 - -1 - HGNC HGNC:30889 - - 1 P1 - Ensembl - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G upstream_gene_variant MODIFIER PDCD11 ENSG00000148843 Transcript ENST00000369797.8 protein_coding - - - - - - - - - rs7911488,CR159670,COSV58915207 2294 1 - HGNC HGNC:13408 NM_014976.2 - 1 P4 - Ensembl - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G intron_variant MODIFIER ATP5MK ENSG00000173915 Transcript ENST00000369811.5 protein_coding - 1/3 - - - - - - - rs7911488,CR159670,COSV58915207 - -1 - HGNC HGNC:30889 - - 2 P1 - Ensembl - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G intron_variant MODIFIER ATP5MK ENSG00000173915 Transcript ENST00000369815.6 protein_coding - 2/4 - - - - - - - rs7911488,CR159670,COSV58915207 - -1 - HGNC HGNC:30889 NM_001206427.2 - 2 P1 - Ensembl - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G 5_prime_UTR_variant MODIFIER ATP5MK ENSG00000173915 Transcript ENST00000369825.6 protein_coding 3/6 - - - 434 - - - - rs7911488,CR159670,COSV58915207 - -1 - HGNC HGNC:30889 - - 5 P1 - Ensembl - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G non_coding_transcript_exon_variant MODIFIER MIR1307 ENSG00000283867 Transcript ENST00000408840.1 miRNA 1/1 - - - 70 - - - - rs7911488,CR159670,COSV58915207 - -1 - HGNC HGNC:35372 - - - - - Ensembl - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G upstream_gene_variant MODIFIER PDCD11 ENSG00000148843 Transcript ENST00000493610.2 nonsense_mediated_decay - - - - - - - - - rs7911488,CR159670,COSV58915207 2318 1 - HGNC HGNC:13408 - - 5 - - Ensembl - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G upstream_gene_variant MODIFIER PDCD11 ENSG00000148843 Transcript ENST00000649849.1 protein_coding - - - - - - - - - rs7911488,CR159670,COSV58915207 2294 1 - HGNC HGNC:13408 - - - A1 - Ensembl - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G intron_variant MODIFIER ATP5MK 84833 Transcript NM_001206426.2 protein_coding - 1/3 - - - - - - - rs7911488,CR159670,COSV58915207 - -1 - EntrezGene HGNC:30889 - - - - - RefSeq - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G intron_variant MODIFIER ATP5MK 84833 Transcript NM_001206427.2 protein_coding - 2/4 - - - - - - - rs7911488,CR159670,COSV58915207 - -1 - EntrezGene HGNC:30889 ENST00000369815.6 - - - - RefSeq - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G upstream_gene_variant MODIFIER PDCD11 22984 Transcript NM_014976.2 protein_coding - - - - - - - - - rs7911488,CR159670,COSV58915207 2294 1 - EntrezGene HGNC:13408 ENST00000369797.8 - - - - RefSeq - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G 5_prime_UTR_variant MODIFIER ATP5MK 84833 Transcript NM_032747.4 protein_coding 2/5 - - - 130 - - - - rs7911488,CR159670,COSV58915207 - -1 - EntrezGene HGNC:30889 - - - - - RefSeq - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G non_coding_transcript_exon_variant MODIFIER MIR1307 100302174 Transcript NR_031707.1 miRNA 1/1 - - - 70 - - - - rs7911488,CR159670,COSV58915207 - -1 - EntrezGene HGNC:35372 - - - - - RefSeq - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G upstream_gene_variant MODIFIER PDCD11 22984 Transcript XM_005269647.4 protein_coding - - - - - - - - - rs7911488,CR159670,COSV58915207 2294 1 - EntrezGene HGNC:13408 - - - - - RefSeq - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G upstream_gene_variant MODIFIER PDCD11 22984 Transcript XM_011539538.3 protein_coding - - - - - - - - - rs7911488,CR159670,COSV58915207 2294 1 - EntrezGene HGNC:13408 - - - - - RefSeq - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G upstream_gene_variant MODIFIER PDCD11 22984 Transcript XM_011539539.3 protein_coding - - - - - - - - - rs7911488,CR159670,COSV58915207 2294 1 - EntrezGene HGNC:13408 - - - - - RefSeq - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103394332-103394332 G 5_prime_UTR_variant MODIFIER ATP5MK 84833 Transcript XM_024448237.2 protein_coding 3/6 - - - 417 - - - - rs7911488,CR159670,COSV58915207 - -1 - EntrezGene HGNC:30889 - - - - - RefSeq - A A - - - 0.3037 - 0,0,1 1,1,1 19680542,20011102,23029284,19458495,26606652,29467929,26630397,24614921,21173033,27352405,25977444,29088787,23562819,30272255,26371044,32811812,32197436,33507700,32128468,32990748,35052835,35361970,36629315,36194484 - - - - - . 10:103735854-103735854 C intron_variant MODIFIER SH3PXD2A ENSG00000107957 Transcript ENST00000355946.7 protein_coding - 3/13 - - - - - - - rs6584568,COSV63508504 - -1 - HGNC HGNC:23664 - - 1 P3 - Ensembl - T T - - - 0.3878 - 0,1 0,1 - - - - - - . 10:103735854-103735854 C intron_variant MODIFIER SH3PXD2A ENSG00000107957 Transcript ENST00000369774.9 protein_coding - 3/14 - - - - - - - rs6584568,COSV63508504 - -1 - HGNC HGNC:23664 NM_001394015.1 - 5 A1 - Ensembl - T T - - - 0.3878 - 0,1 0,1 - - - - - - . 10:103735854-103735854 C intron_variant MODIFIER SH3PXD2A ENSG00000107957 Transcript ENST00000687380.1 protein_coding - 3/6 - - - - - - - rs6584568,COSV63508504 - -1 cds_end_NF HGNC HGNC:23664 - - - - - Ensembl - T T - - - 0.3878 - 0,1 0,1 - - - - - - . 10:103735854-103735854 C intron_variant,non_coding_transcript_variant MODIFIER SH3PXD2A ENSG00000107957 Transcript ENST00000692756.1 protein_coding_CDS_not_defined - 1/11 - - - - - - - rs6584568,COSV63508504 - -1 - HGNC HGNC:23664 - - - - - Ensembl - T T - - - 0.3878 - 0,1 0,1 - - - - - - . 10:103735854-103735854 C intron_variant MODIFIER SH3PXD2A 9644 Transcript NM_001394015.1 protein_coding - 3/14 - - - - - - - rs6584568,COSV63508504 - -1 - EntrezGene HGNC:23664 ENST00000369774.9 - - - - RefSeq - T T - - - 0.3878 - 0,1 0,1 - - - - - - . 10:103735854-103735854 C intron_variant MODIFIER SH3PXD2A 9644 Transcript NM_014631.3 protein_coding - 3/13 - - - - - - - rs6584568,COSV63508504 - -1 - EntrezGene HGNC:23664 - - - - - RefSeq - T T - - - 0.3878 - 0,1 0,1 - - - - - - . 10:104008051-104008051 G intron_variant MODIFIER SLK ENSG00000065613 Transcript ENST00000335753.8 protein_coding - 11/17 - - - - - - - rs17116263 - 1 - HGNC HGNC:11088 - - 1 - - Ensembl - A A - - - 0.0485 - - - - - - - - - . 10:104008051-104008051 G intron_variant MODIFIER SLK ENSG00000065613 Transcript ENST00000369755.4 protein_coding - 11/18 - - - - - - - rs17116263 - 1 - HGNC HGNC:11088 NM_014720.4 - 1 P1 - Ensembl - A A - - - 0.0485 - - - - - - - - - . 10:104008051-104008051 G upstream_gene_variant MODIFIER SLK ENSG00000065613 Transcript ENST00000474260.1 protein_coding_CDS_not_defined - - - - - - - - - rs17116263 147 1 - HGNC HGNC:11088 - - 2 - - Ensembl - A A - - - 0.0485 - - - - - - - - - . 10:104008051-104008051 G upstream_gene_variant MODIFIER SLK ENSG00000065613 Transcript ENST00000672560.1 protein_coding - - - - - - - - - rs17116263 2765 1 cds_start_NF,cds_end_NF HGNC HGNC:11088 - - - - - Ensembl - A A - - - 0.0485 - - - - - - - - - . 10:104008051-104008051 G intron_variant MODIFIER SLK 9748 Transcript NM_001304743.2 protein_coding - 11/17 - - - - - - - rs17116263 - 1 - EntrezGene HGNC:11088 - - - - - RefSeq - A A - - - 0.0485 - - - - - - - - - . 10:104008051-104008051 G intron_variant MODIFIER SLK 9748 Transcript NM_014720.4 protein_coding - 11/18 - - - - - - - rs17116263 - 1 - EntrezGene HGNC:11088 ENST00000369755.4 - - - - RefSeq - A A - - - 0.0485 - - - - - - - - - . 10:104008051-104008051 G intron_variant MODIFIER SLK 9748 Transcript XM_011540401.4 protein_coding - 10/17 - - - - - - - rs17116263 - 1 - EntrezGene HGNC:11088 - - - - - RefSeq - A A - - - 0.0485 - - - - - - - - - . 10:104008051-104008051 G intron_variant MODIFIER SLK 9748 Transcript XM_047426039.1 protein_coding - 10/16 - - - - - - - rs17116263 - 1 - EntrezGene HGNC:11088 - - - - - RefSeq - A A - - - 0.0485 - - - - - - - - - . 10:104057285-104057285 T intron_variant MODIFIER COL17A1 ENSG00000065618 Transcript ENST00000369733.8 protein_coding - 15/50 - - - - - - - rs805699,COSV62228533 - -1 - HGNC HGNC:2194 - - 5 A2 - Ensembl - C C - - - 0.8872 benign 0,1 1,1 - - - - - - . 10:104057285-104057285 T downstream_gene_variant MODIFIER COL17A1 ENSG00000065618 Transcript ENST00000393211.3 protein_coding - - - - - - - - - rs805699,COSV62228533 2032 -1 - HGNC HGNC:2194 - - 1 - - Ensembl - C C - - - 0.8872 benign 0,1 1,1 - - - - - - . 10:104057285-104057285 T upstream_gene_variant MODIFIER COL17A1 ENSG00000065618 Transcript ENST00000480127.2 retained_intron - - - - - - - - - rs805699,COSV62228533 1316 -1 - HGNC HGNC:2194 - - 3 - - Ensembl - C C - - - 0.8872 benign 0,1 1,1 - - - - - - . 10:104057285-104057285 T downstream_gene_variant MODIFIER COL17A1 ENSG00000065618 Transcript ENST00000488320.1 nonsense_mediated_decay - - - - - - - - - rs805699,COSV62228533 2400 -1 cds_start_NF HGNC HGNC:2194 - - 5 - - Ensembl - C C - - - 0.8872 benign 0,1 1,1 - - - - - - . 10:104057285-104057285 T intron_variant MODIFIER COL17A1 ENSG00000065618 Transcript ENST00000648076.2 protein_coding - 16/55 - - - - - - - rs805699,COSV62228533 - -1 - HGNC HGNC:2194 NM_000494.4 - - P2 - Ensembl - C C - - - 0.8872 benign 0,1 1,1 - - - - - - . 10:104057285-104057285 T intron_variant MODIFIER COL17A1 ENSG00000065618 Transcript ENST00000650263.1 protein_coding - 15/21 - - - - - - - rs805699,COSV62228533 - -1 cds_end_NF HGNC HGNC:2194 - - - - - Ensembl - C C - - - 0.8872 benign 0,1 1,1 - - - - - - . 10:104057285-104057285 T intron_variant MODIFIER COL17A1 1308 Transcript NM_000494.4 protein_coding - 16/55 - - - - - - - rs805699,COSV62228533 - -1 - EntrezGene HGNC:2194 ENST00000648076.2 - - - - RefSeq - C C - - - 0.8872 benign 0,1 1,1 - - - - - - . 10:104057285-104057285 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000949550 enhancer - - - - - - - - - rs805699,COSV62228533 - - - - - - - - - - - - - - - - - 0.8872 benign 0,1 1,1 - - - - - - . 10:104214223-104214223 G intron_variant MODIFIER CFAP43 ENSG00000197748 Transcript ENST00000278064.7 protein_coding - 4/21 - - - - - - - rs584082,COSV53378101 - -1 - HGNC HGNC:26684 - - 1 - - Ensembl - C C - - - 0.2031 - 0,1 0,1 - - - - - - . 10:104214223-104214223 G intron_variant MODIFIER CFAP43 ENSG00000197748 Transcript ENST00000357060.8 protein_coding - 4/37 - - - - - - - rs584082,COSV53378101 - -1 - HGNC HGNC:26684 NM_025145.7 - 1 P1 - Ensembl - C C - - - 0.2031 - 0,1 0,1 - - - - - - . 10:104214223-104214223 G intron_variant MODIFIER CFAP43 ENSG00000197748 Transcript ENST00000369719.2 protein_coding - 4/7 - - - - - - - rs584082,COSV53378101 - -1 - HGNC HGNC:26684 - - 2 - - Ensembl - C C - - - 0.2031 - 0,1 0,1 - - - - - - . 10:104214223-104214223 G intron_variant MODIFIER CFAP43 ENSG00000197748 Transcript ENST00000369720.6 protein_coding - 4/10 - - - - - - - rs584082,COSV53378101 - -1 - HGNC HGNC:26684 - - 1 - - Ensembl - C C - - - 0.2031 - 0,1 0,1 - - - - - - . 10:104214223-104214223 G downstream_gene_variant MODIFIER MIR609 ENSG00000208033 Transcript ENST00000385298.1 miRNA - - - - - - - - - rs584082,COSV53378101 4566 -1 - HGNC HGNC:32865 - - - - - Ensembl - C C - - - 0.2031 - 0,1 0,1 - - - - - - . 10:104214223-104214223 G intron_variant MODIFIER CFAP43 80217 Transcript NM_025145.7 protein_coding - 4/37 - - - - - - - rs584082,COSV53378101 - -1 - EntrezGene HGNC:26684 ENST00000357060.8 - - - - RefSeq - C C - - - 0.2031 - 0,1 0,1 - - - - - - . 10:104214223-104214223 G downstream_gene_variant MODIFIER MIR609 693194 Transcript NR_030340.1 miRNA - - - - - - - - - rs584082,COSV53378101 4566 -1 - EntrezGene HGNC:32865 - - - - - RefSeq - C C - - - 0.2031 - 0,1 0,1 - - - - - - . 10:104392353-104392353 A missense_variant MODERATE CFAP58 ENSG00000120051 Transcript ENST00000369704.8 protein_coding 10/18 - - - 1551 1486 496 S/T Tca/Aca rs11192036,COSV63834215 - 1 - HGNC HGNC:26676 NM_001008723.2 - 1 P1 - Ensembl - T T - tolerated(0.46) benign(0.062) 0.2204 - 0,1 0,1 - - - - - - . 10:104392353-104392353 A missense_variant MODERATE CFAP58 159686 Transcript NM_001008723.2 protein_coding 10/18 - - - 1551 1486 496 S/T Tca/Aca rs11192036,COSV63834215 - 1 - EntrezGene HGNC:26676 ENST00000369704.8 - - - - RefSeq - T T - tolerated(0.46) benign(0.062) 0.2204 - 0,1 0,1 - - - - - - . 10:104392353-104392353 A missense_variant MODERATE CFAP58 159686 Transcript NM_001400226.1 protein_coding 11/19 - - - 1763 1432 478 S/T Tca/Aca rs11192036,COSV63834215 - 1 - EntrezGene HGNC:26676 - - - - - RefSeq - T T - tolerated(0.44) benign(0.062) 0.2204 - 0,1 0,1 - - - - - - . 10:104392353-104392353 A missense_variant MODERATE CFAP58 159686 Transcript NM_001400227.1 protein_coding 10/18 - - - 1619 1432 478 S/T Tca/Aca rs11192036,COSV63834215 - 1 - EntrezGene HGNC:26676 - - - - - RefSeq - T T - tolerated(0.44) benign(0.062) 0.2204 - 0,1 0,1 - - - - - - . 10:104406812-104406812 A intron_variant MODIFIER CFAP58 ENSG00000120051 Transcript ENST00000369704.8 protein_coding - 15/17 - - - - - - - rs10786792,COSV63833302 - 1 - HGNC HGNC:26676 NM_001008723.2 - 1 P1 - Ensembl - G G - - - 0.3257 - 0,1 0,1 - - - - - - . 10:104406812-104406812 A intron_variant MODIFIER CFAP58 159686 Transcript NM_001008723.2 protein_coding - 15/17 - - - - - - - rs10786792,COSV63833302 - 1 - EntrezGene HGNC:26676 ENST00000369704.8 - - - - RefSeq - G G - - - 0.3257 - 0,1 0,1 - - - - - - . 10:104406812-104406812 A intron_variant MODIFIER CFAP58 159686 Transcript NM_001400226.1 protein_coding - 16/18 - - - - - - - rs10786792,COSV63833302 - 1 - EntrezGene HGNC:26676 - - - - - RefSeq - G G - - - 0.3257 - 0,1 0,1 - - - - - - . 10:104406812-104406812 A intron_variant MODIFIER CFAP58 159686 Transcript NM_001400227.1 protein_coding - 15/17 - - - - - - - rs10786792,COSV63833302 - 1 - EntrezGene HGNC:26676 - - - - - RefSeq - G G - - - 0.3257 - 0,1 0,1 - - - - - - . 10:104406812-104406812 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000261245 CTCF_binding_site - - - - - - - - - rs10786792,COSV63833302 - - - - - - - - - - - - - - - - - 0.3257 - 0,1 0,1 - - - - - - . 10:104406812-104406812 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000414707 enhancer - - - - - - - - - rs10786792,COSV63833302 - - - - - - - - - - - - - - - - - 0.3257 - 0,1 0,1 - - - - - - . 10:104450029-104450029 G intron_variant MODIFIER CFAP58 ENSG00000120051 Transcript ENST00000369704.8 protein_coding - 16/17 - - - - - - - rs75483760,COSV63834322 - 1 - HGNC HGNC:26676 NM_001008723.2 - 1 P1 - Ensembl - A A - - - 0.0258 - 0,1 0,1 - - - - - - . 10:104450029-104450029 G intron_variant MODIFIER CFAP58 159686 Transcript NM_001008723.2 protein_coding - 16/17 - - - - - - - rs75483760,COSV63834322 - 1 - EntrezGene HGNC:26676 ENST00000369704.8 - - - - RefSeq - A A - - - 0.0258 - 0,1 0,1 - - - - - - . 10:104450029-104450029 G intron_variant MODIFIER CFAP58 159686 Transcript NM_001400226.1 protein_coding - 17/18 - - - - - - - rs75483760,COSV63834322 - 1 - EntrezGene HGNC:26676 - - - - - RefSeq - A A - - - 0.0258 - 0,1 0,1 - - - - - - . 10:104450029-104450029 G intron_variant MODIFIER CFAP58 159686 Transcript NM_001400227.1 protein_coding - 16/17 - - - - - - - rs75483760,COSV63834322 - 1 - EntrezGene HGNC:26676 - - - - - RefSeq - A A - - - 0.0258 - 0,1 0,1 - - - - - - . 10:105685692-105685692 C upstream_gene_variant MODIFIER YWHAZP5 ENSG00000213260 Transcript ENST00000419975.1 processed_pseudogene - - - - - - - - - rs10786894 630 1 - HGNC HGNC:30564 - - - - - Ensembl - T T - - - 0.7632 - - - - - - - - - . 10:105685692-105685692 C non_coding_transcript_exon_variant MODIFIER PPIAP38 ENSG00000233477 Transcript ENST00000450091.1 processed_pseudogene 1/1 - - - 174 - - - - rs10786894 - -1 - HGNC HGNC:53662 - - - - - Ensembl - T T - - - 0.7632 - - - - - - - - - . 10:105685692-105685692 C intron_variant,non_coding_transcript_variant MODIFIER LINC02627 101927549 Transcript NR_120625.1 lncRNA - 3/3 - - - - - - - rs10786894 - -1 - EntrezGene HGNC:54106 - - - - - RefSeq - T T - - - 0.7632 - - - - - - - - - . 10:105685692-105685692 C downstream_gene_variant MODIFIER LOC107984266 107984266 Transcript XR_001747580.2 lncRNA - - - - - - - - - rs10786894 537 1 - EntrezGene - - - - - - RefSeq - T T - - - 0.7632 - - - - - - - - - . 10:105686374-105686374 G non_coding_transcript_exon_variant MODIFIER YWHAZP5 ENSG00000213260 Transcript ENST00000419975.1 processed_pseudogene 1/1 - - - 53 - - - - - - 1 - HGNC HGNC:30564 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:105686374-105686374 G upstream_gene_variant MODIFIER PPIAP38 ENSG00000233477 Transcript ENST00000450091.1 processed_pseudogene - - - - - - - - - - 509 -1 - HGNC HGNC:53662 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:105686374-105686374 G intron_variant,non_coding_transcript_variant MODIFIER LINC02627 101927549 Transcript NR_120625.1 lncRNA - 3/3 - - - - - - - - - -1 - EntrezGene HGNC:54106 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:105686374-105686374 G downstream_gene_variant MODIFIER LOC107984266 107984266 Transcript XR_001747580.2 lncRNA - - - - - - - - - - 1219 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:105686382-105686382 G non_coding_transcript_exon_variant MODIFIER YWHAZP5 ENSG00000213260 Transcript ENST00000419975.1 processed_pseudogene 1/1 - - - 61 - - - - - - 1 - HGNC HGNC:30564 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:105686382-105686382 G upstream_gene_variant MODIFIER PPIAP38 ENSG00000233477 Transcript ENST00000450091.1 processed_pseudogene - - - - - - - - - - 517 -1 - HGNC HGNC:53662 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:105686382-105686382 G intron_variant,non_coding_transcript_variant MODIFIER LINC02627 101927549 Transcript NR_120625.1 lncRNA - 3/3 - - - - - - - - - -1 - EntrezGene HGNC:54106 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:105686382-105686382 G downstream_gene_variant MODIFIER LOC107984266 107984266 Transcript XR_001747580.2 lncRNA - - - - - - - - - - 1227 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:105686505-105686505 G non_coding_transcript_exon_variant MODIFIER YWHAZP5 ENSG00000213260 Transcript ENST00000419975.1 processed_pseudogene 1/1 - - - 184 - - - - - - 1 - HGNC HGNC:30564 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:105686505-105686505 G upstream_gene_variant MODIFIER PPIAP38 ENSG00000233477 Transcript ENST00000450091.1 processed_pseudogene - - - - - - - - - - 640 -1 - HGNC HGNC:53662 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:105686505-105686505 G intron_variant,non_coding_transcript_variant MODIFIER LINC02627 101927549 Transcript NR_120625.1 lncRNA - 3/3 - - - - - - - - - -1 - EntrezGene HGNC:54106 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:105686505-105686505 G downstream_gene_variant MODIFIER LOC107984266 107984266 Transcript XR_001747580.2 lncRNA - - - - - - - - - - 1350 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:105686536-105686536 C non_coding_transcript_exon_variant MODIFIER YWHAZP5 ENSG00000213260 Transcript ENST00000419975.1 processed_pseudogene 1/1 - - - 215 - - - - rs1176480603 - 1 - HGNC HGNC:30564 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:105686536-105686536 C upstream_gene_variant MODIFIER PPIAP38 ENSG00000233477 Transcript ENST00000450091.1 processed_pseudogene - - - - - - - - - rs1176480603 671 -1 - HGNC HGNC:53662 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:105686536-105686536 C intron_variant,non_coding_transcript_variant MODIFIER LINC02627 101927549 Transcript NR_120625.1 lncRNA - 3/3 - - - - - - - rs1176480603 - -1 - EntrezGene HGNC:54106 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:105686536-105686536 C downstream_gene_variant MODIFIER LOC107984266 107984266 Transcript XR_001747580.2 lncRNA - - - - - - - - - rs1176480603 1381 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:109680847-109680847 G non_coding_transcript_exon_variant MODIFIER XIAPP1 ENSG00000270294 Transcript ENST00000603162.1 processed_pseudogene 1/1 - - - 406 - - - - rs7898586 - 1 - HGNC HGNC:52375 - - - - - Ensembl - A A - - - 0.3291 - - - - - - - - - . 10:109680911-109680911 T non_coding_transcript_exon_variant MODIFIER XIAPP1 ENSG00000270294 Transcript ENST00000603162.1 processed_pseudogene 1/1 - - - 470 - - - - - - 1 - HGNC HGNC:52375 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:109680961-109680961 A non_coding_transcript_exon_variant MODIFIER XIAPP1 ENSG00000270294 Transcript ENST00000603162.1 processed_pseudogene 1/1 - - - 520 - - - - rs7915504 - 1 - HGNC HGNC:52375 - - - - - Ensembl - T T - - - 0.3293 - - - 16385451 - - - - - . 10:109680991-109680991 T non_coding_transcript_exon_variant MODIFIER XIAPP1 ENSG00000270294 Transcript ENST00000603162.1 processed_pseudogene 1/1 - - - 550 - - - - rs1235629850 - 1 - HGNC HGNC:52375 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:109681020-109681020 C non_coding_transcript_exon_variant MODIFIER XIAPP1 ENSG00000270294 Transcript ENST00000603162.1 processed_pseudogene 1/1 - - - 579 - - - - - - 1 - HGNC HGNC:52375 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:110451326-110451326 C downstream_gene_variant MODIFIER HMGB3P5 ENSG00000237642 Transcript ENST00000428894.1 processed_pseudogene - - - - - - - - - - 86 1 - HGNC HGNC:39105 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:110451326-110451326 C intron_variant,non_coding_transcript_variant MODIFIER DUSP5-DT ENSG00000273143 Transcript ENST00000609514.1 lncRNA - 1/3 - - - - - - - - - -1 - HGNC HGNC:55154 - - 5 - - Ensembl - T T - - - - - - - - - - - - - . 10:110451326-110451326 C upstream_gene_variant MODIFIER LOC105378482 105378482 Transcript XR_001747585.2 lncRNA - - - - - - - - - - 4097 -1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:110502803-110502803 C missense_variant MODERATE DUSP5 ENSG00000138166 Transcript ENST00000369583.4 protein_coding 2/4 - - - 677 462 154 E/D gaG/gaC rs2282238 - 1 - HGNC HGNC:3071 NM_004419.4 - 1 P1 - Ensembl - G G - tolerated(0.22) - 0.0140 - - - - - - - - - . 10:110502803-110502803 C non_coding_transcript_exon_variant MODIFIER DUSP5 ENSG00000138166 Transcript ENST00000468749.1 protein_coding_CDS_not_defined 1/4 - - - 57 - - - - rs2282238 - 1 - HGNC HGNC:3071 - - 3 - - Ensembl - G G - - - 0.0140 - - - - - - - - - . 10:110502803-110502803 C missense_variant MODERATE DUSP5 1847 Transcript NM_004419.4 protein_coding 2/4 - - - 677 462 154 E/D gaG/gaC rs2282238 - 1 - EntrezGene HGNC:3071 ENST00000369583.4 - - - - RefSeq - G G - tolerated(0.22) - 0.0140 - - - - - - - - - . 10:110502803-110502803 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000033336 promoter - - - - - - - - - rs2282238 - - - - - - - - - - - - - - - - - 0.0140 - - - - - - - - - . 10:110507064-110507064 A missense_variant MODERATE DUSP5 ENSG00000138166 Transcript ENST00000369583.4 protein_coding 3/4 - - - 873 658 220 A/T Gcg/Acg rs1889566 - 1 - HGNC HGNC:3071 NM_004419.4 - 1 P1 - Ensembl - G G - tolerated(0.39) - 0.9732 - - - - - - - - - . 10:110507064-110507064 A non_coding_transcript_exon_variant MODIFIER DUSP5 ENSG00000138166 Transcript ENST00000468749.1 protein_coding_CDS_not_defined 3/4 - - - 311 - - - - rs1889566 - 1 - HGNC HGNC:3071 - - 3 - - Ensembl - G G - - - 0.9732 - - - - - - - - - . 10:110507064-110507064 A missense_variant MODERATE DUSP5 1847 Transcript NM_004419.4 protein_coding 3/4 - - - 873 658 220 A/T Gcg/Acg rs1889566 - 1 - EntrezGene HGNC:3071 ENST00000369583.4 - - - - RefSeq - G G - tolerated(0.39) - 0.9732 - - - - - - - - - . 10:110507065-110507065 T missense_variant MODERATE DUSP5 ENSG00000138166 Transcript ENST00000369583.4 protein_coding 3/4 - - - 874 659 220 A/V gCg/gTg rs1889565 - 1 - HGNC HGNC:3071 NM_004419.4 - 1 P1 - Ensembl - C C - deleterious(0.01) - 0.9732 - - - - - - - - - . 10:110507065-110507065 T non_coding_transcript_exon_variant MODIFIER DUSP5 ENSG00000138166 Transcript ENST00000468749.1 protein_coding_CDS_not_defined 3/4 - - - 312 - - - - rs1889565 - 1 - HGNC HGNC:3071 - - 3 - - Ensembl - C C - - - 0.9732 - - - - - - - - - . 10:110507065-110507065 T missense_variant MODERATE DUSP5 1847 Transcript NM_004419.4 protein_coding 3/4 - - - 874 659 220 A/V gCg/gTg rs1889565 - 1 - EntrezGene HGNC:3071 ENST00000369583.4 - - - - RefSeq - C C - deleterious(0.01) - 0.9732 - - - - - - - - - . 10:110583833-110583833 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SMC3 ENSG00000108055 Transcript ENST00000361804.5 protein_coding - 11/28 - - - - - - - rs11195199,COSV62418757 - 1 - HGNC HGNC:2468 NM_005445.4 - 1 P1 - Ensembl - G G - - - 0.1482 benign 0,1 1,1 25741868,18414213,17273969 - - - - - . 10:110583833-110583833 A downstream_gene_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000462899.1 protein_coding_CDS_not_defined - - - - - - - - - rs11195199,COSV62418757 1827 1 - HGNC HGNC:2468 - - 5 - - Ensembl - G G - - - 0.1482 benign 0,1 1,1 25741868,18414213,17273969 - - - - - . 10:110583833-110583833 A upstream_gene_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000684797.1 retained_intron - - - - - - - - - rs11195199,COSV62418757 4567 1 - HGNC HGNC:2468 - - - - - Ensembl - G G - - - 0.1482 benign 0,1 1,1 25741868,18414213,17273969 - - - - - . 10:110583833-110583833 A non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000684988.1 retained_intron 11/25 - - - 1387 - - - - rs11195199,COSV62418757 - 1 - HGNC HGNC:2468 - - - - - Ensembl - G G - - - 0.1482 benign 0,1 1,1 25741868,18414213,17273969 - - - - - . 10:110583833-110583833 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW SMC3 ENSG00000108055 Transcript ENST00000687823.1 retained_intron - 9/14 - - - - - - - rs11195199,COSV62418757 - 1 - HGNC HGNC:2468 - - - - - Ensembl - G G - - - 0.1482 benign 0,1 1,1 25741868,18414213,17273969 - - - - - . 10:110583833-110583833 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW SMC3 ENSG00000108055 Transcript ENST00000689932.1 retained_intron - 8/13 - - - - - - - rs11195199,COSV62418757 - 1 - HGNC HGNC:2468 - - - - - Ensembl - G G - - - 0.1482 benign 0,1 1,1 25741868,18414213,17273969 - - - - - . 10:110583833-110583833 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW SMC3 ENSG00000108055 Transcript ENST00000691297.1 retained_intron - 11/16 - - - - - - - rs11195199,COSV62418757 - 1 - HGNC HGNC:2468 - - - - - Ensembl - G G - - - 0.1482 benign 0,1 1,1 25741868,18414213,17273969 - - - - - . 10:110583833-110583833 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW SMC3 ENSG00000108055 Transcript ENST00000691527.1 retained_intron - 10/15 - - - - - - - rs11195199,COSV62418757 - 1 - HGNC HGNC:2468 - - - - - Ensembl - G G - - - 0.1482 benign 0,1 1,1 25741868,18414213,17273969 - - - - - . 10:110583833-110583833 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW SMC3 ENSG00000108055 Transcript ENST00000692792.1 retained_intron - 11/18 - - - - - - - rs11195199,COSV62418757 - 1 - HGNC HGNC:2468 - - - - - Ensembl - G G - - - 0.1482 benign 0,1 1,1 25741868,18414213,17273969 - - - - - . 10:110583833-110583833 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SMC3 9126 Transcript NM_005445.4 protein_coding - 11/28 - - - - - - - rs11195199,COSV62418757 - 1 - EntrezGene HGNC:2468 ENST00000361804.5 - - - - RefSeq - G G - - - 0.1482 benign 0,1 1,1 25741868,18414213,17273969 - - - - - . 10:110584165-110584165 C intron_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000361804.5 protein_coding - 12/28 - - - - - - - rs11195200,COSV62421733 - 1 - HGNC HGNC:2468 NM_005445.4 - 1 P1 - Ensembl - T T - - - 0.1482 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110584165-110584165 C downstream_gene_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000462899.1 protein_coding_CDS_not_defined - - - - - - - - - rs11195200,COSV62421733 2159 1 - HGNC HGNC:2468 - - 5 - - Ensembl - T T - - - 0.1482 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110584165-110584165 C upstream_gene_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000684797.1 retained_intron - - - - - - - - - rs11195200,COSV62421733 4235 1 - HGNC HGNC:2468 - - - - - Ensembl - T T - - - 0.1482 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110584165-110584165 C non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000684988.1 retained_intron 11/25 - - - 1719 - - - - rs11195200,COSV62421733 - 1 - HGNC HGNC:2468 - - - - - Ensembl - T T - - - 0.1482 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110584165-110584165 C intron_variant,non_coding_transcript_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000687823.1 retained_intron - 10/14 - - - - - - - rs11195200,COSV62421733 - 1 - HGNC HGNC:2468 - - - - - Ensembl - T T - - - 0.1482 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110584165-110584165 C intron_variant,non_coding_transcript_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689932.1 retained_intron - 9/13 - - - - - - - rs11195200,COSV62421733 - 1 - HGNC HGNC:2468 - - - - - Ensembl - T T - - - 0.1482 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110584165-110584165 C intron_variant,non_coding_transcript_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000691297.1 retained_intron - 12/16 - - - - - - - rs11195200,COSV62421733 - 1 - HGNC HGNC:2468 - - - - - Ensembl - T T - - - 0.1482 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110584165-110584165 C intron_variant,non_coding_transcript_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000691527.1 retained_intron - 11/15 - - - - - - - rs11195200,COSV62421733 - 1 - HGNC HGNC:2468 - - - - - Ensembl - T T - - - 0.1482 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110584165-110584165 C intron_variant,non_coding_transcript_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000692792.1 retained_intron - 12/18 - - - - - - - rs11195200,COSV62421733 - 1 - HGNC HGNC:2468 - - - - - Ensembl - T T - - - 0.1482 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110584165-110584165 C intron_variant MODIFIER SMC3 9126 Transcript NM_005445.4 protein_coding - 12/28 - - - - - - - rs11195200,COSV62421733 - 1 - EntrezGene HGNC:2468 ENST00000361804.5 - - - - RefSeq - T T - - - 0.1482 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110584165-110584165 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000415608 open_chromatin_region - - - - - - - - - rs11195200,COSV62421733 - - - - - - - - - - - - - - - - - 0.1482 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110601178-110601178 G intron_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000361804.5 protein_coding - 23/28 - - - - - - - rs11195213,COSV62418760 - 1 - HGNC HGNC:2468 NM_005445.4 - 1 P1 - Ensembl - A A - - - 0.1490 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110601178-110601178 G intron_variant,non_coding_transcript_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000684988.1 retained_intron - 20/24 - - - - - - - rs11195213,COSV62418760 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - 0.1490 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110601178-110601178 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000685743.1 retained_intron 3/8 - - - 1894 - - - - rs11195213,COSV62418760 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - 0.1490 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110601178-110601178 G intron_variant,non_coding_transcript_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000686057.1 retained_intron - 3/8 - - - - - - - rs11195213,COSV62418760 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - 0.1490 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110601178-110601178 G intron_variant,non_coding_transcript_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689321.1 retained_intron - 3/8 - - - - - - - rs11195213,COSV62418760 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - 0.1490 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110601178-110601178 G intron_variant,non_coding_transcript_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689986.1 protein_coding_CDS_not_defined - 4/8 - - - - - - - rs11195213,COSV62418760 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - 0.1490 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110601178-110601178 G downstream_gene_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000692792.1 retained_intron - - - - - - - - - rs11195213,COSV62418760 4395 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - 0.1490 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110601178-110601178 G intron_variant MODIFIER SMC3 9126 Transcript NM_005445.4 protein_coding - 23/28 - - - - - - - rs11195213,COSV62418760 - 1 - EntrezGene HGNC:2468 ENST00000361804.5 - - - - RefSeq - A A - - - 0.1490 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110601178-110601178 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000415610 CTCF_binding_site - - - - - - - - - rs11195213,COSV62418760 - - - - - - - - - - - - - - - - - 0.1490 benign 0,1 1,1 25741868,17273969 - - - - - . 10:110602112-110602112 G synonymous_variant LOW SMC3 ENSG00000108055 Transcript ENST00000361804.5 protein_coding 25/29 - - - 3161 3039 1013 S tcA/tcG rs2419565 - 1 - HGNC HGNC:2468 NM_005445.4 - 1 P1 - Ensembl - A A - - - 0.9868 benign - 1 25741868,18414213,17273969 - - - - - . 10:110602112-110602112 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000684988.1 retained_intron 22/25 - - - 5272 - - - - rs2419565 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - 0.9868 benign - 1 25741868,18414213,17273969 - - - - - . 10:110602112-110602112 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000685743.1 retained_intron 4/8 - - - 2747 - - - - rs2419565 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - 0.9868 benign - 1 25741868,18414213,17273969 - - - - - . 10:110602112-110602112 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000686057.1 retained_intron 5/9 - - - 1390 - - - - rs2419565 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - 0.9868 benign - 1 25741868,18414213,17273969 - - - - - . 10:110602112-110602112 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689321.1 retained_intron 5/9 - - - 2002 - - - - rs2419565 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - 0.9868 benign - 1 25741868,18414213,17273969 - - - - - . 10:110602112-110602112 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689986.1 protein_coding_CDS_not_defined 6/9 - - - 828 - - - - rs2419565 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - 0.9868 benign - 1 25741868,18414213,17273969 - - - - - . 10:110602112-110602112 G synonymous_variant LOW SMC3 9126 Transcript NM_005445.4 protein_coding 25/29 - - - 3161 3039 1013 S tcA/tcG rs2419565 - 1 - EntrezGene HGNC:2468 ENST00000361804.5 - - - - RefSeq - A A - - - 0.9868 benign - 1 25741868,18414213,17273969 - - - - - . 10:110602612-110602612 A missense_variant MODERATE SMC3 ENSG00000108055 Transcript ENST00000361804.5 protein_coding 26/29 - - - 3366 3244 1082 G/S Ggc/Agc - - 1 - HGNC HGNC:2468 NM_005445.4 - 1 P1 - Ensembl - G G - tolerated(0.43) benign(0.01) - - - - - - - - - - . 10:110602612-110602612 A non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000684988.1 retained_intron 23/25 - - - 5477 - - - - - - 1 - HGNC HGNC:2468 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:110602612-110602612 A non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000685743.1 retained_intron 5/8 - - - 2952 - - - - - - 1 - HGNC HGNC:2468 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:110602612-110602612 A non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000686057.1 retained_intron 6/9 - - - 1595 - - - - - - 1 - HGNC HGNC:2468 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:110602612-110602612 A non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689321.1 retained_intron 6/9 - - - 2207 - - - - - - 1 - HGNC HGNC:2468 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:110602612-110602612 A intron_variant,non_coding_transcript_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689986.1 protein_coding_CDS_not_defined - 6/8 - - - - - - - - - 1 - HGNC HGNC:2468 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:110602612-110602612 A missense_variant MODERATE SMC3 9126 Transcript NM_005445.4 protein_coding 26/29 - - - 3366 3244 1082 G/S Ggc/Agc - - 1 - EntrezGene HGNC:2468 ENST00000361804.5 - - - - RefSeq - G G - tolerated(0.43) benign(0.01) - - - - - - - - - - . 10:110602641-110602641 G missense_variant MODERATE SMC3 ENSG00000108055 Transcript ENST00000361804.5 protein_coding 26/29 - - - 3395 3273 1091 D/E gaC/gaG - - 1 - HGNC HGNC:2468 NM_005445.4 - 1 P1 - Ensembl - C C - tolerated(0.4) benign(0.346) - - - - - - - - - - . 10:110602641-110602641 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000684988.1 retained_intron 23/25 - - - 5506 - - - - - - 1 - HGNC HGNC:2468 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:110602641-110602641 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000685743.1 retained_intron 5/8 - - - 2981 - - - - - - 1 - HGNC HGNC:2468 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:110602641-110602641 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000686057.1 retained_intron 6/9 - - - 1624 - - - - - - 1 - HGNC HGNC:2468 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:110602641-110602641 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689321.1 retained_intron 6/9 - - - 2236 - - - - - - 1 - HGNC HGNC:2468 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:110602641-110602641 G intron_variant,non_coding_transcript_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689986.1 protein_coding_CDS_not_defined - 6/8 - - - - - - - - - 1 - HGNC HGNC:2468 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:110602641-110602641 G missense_variant MODERATE SMC3 9126 Transcript NM_005445.4 protein_coding 26/29 - - - 3395 3273 1091 D/E gaC/gaG - - 1 - EntrezGene HGNC:2468 ENST00000361804.5 - - - - RefSeq - C C - tolerated(0.4) benign(0.346) - - - - - - - - - - . 10:110602959-110602959 G synonymous_variant LOW SMC3 ENSG00000108055 Transcript ENST00000361804.5 protein_coding 27/29 - - - 3554 3432 1144 E gaA/gaG rs997155012 - 1 - HGNC HGNC:2468 NM_005445.4 - 1 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:110602959-110602959 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000684988.1 retained_intron 24/25 - - - 5665 - - - - rs997155012 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:110602959-110602959 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000685743.1 retained_intron 6/8 - - - 3140 - - - - rs997155012 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:110602959-110602959 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000686057.1 retained_intron 7/9 - - - 1783 - - - - rs997155012 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:110602959-110602959 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689321.1 retained_intron 7/9 - - - 2395 - - - - rs997155012 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:110602959-110602959 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689986.1 protein_coding_CDS_not_defined 7/9 - - - 1029 - - - - rs997155012 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:110602959-110602959 G synonymous_variant LOW SMC3 9126 Transcript NM_005445.4 protein_coding 27/29 - - - 3554 3432 1144 E gaA/gaG rs997155012 - 1 - EntrezGene HGNC:2468 ENST00000361804.5 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:110602959-110602959 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000415612 open_chromatin_region - - - - - - - - - rs997155012 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:110604257-110604257 G synonymous_variant LOW SMC3 ENSG00000108055 Transcript ENST00000361804.5 protein_coding 29/29 - - - 3731 3609 1203 A gcA/gcG COSV105276820 - 1 - HGNC HGNC:2468 NM_005445.4 - 1 P1 - Ensembl - A A - - - - - 1 1 - - - - - - . 10:110604257-110604257 G downstream_gene_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000684988.1 retained_intron - - - - - - - - - COSV105276820 175 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:110604257-110604257 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000685743.1 retained_intron 8/8 - - - 3317 - - - - COSV105276820 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:110604257-110604257 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000686057.1 retained_intron 9/9 - - - 1960 - - - - COSV105276820 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:110604257-110604257 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689321.1 retained_intron 9/9 - - - 2572 - - - - COSV105276820 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:110604257-110604257 G non_coding_transcript_exon_variant MODIFIER SMC3 ENSG00000108055 Transcript ENST00000689986.1 protein_coding_CDS_not_defined 9/9 - - - 1206 - - - - COSV105276820 - 1 - HGNC HGNC:2468 - - - - - Ensembl - A A - - - - - 1 1 - - - - - - . 10:110604257-110604257 G synonymous_variant LOW SMC3 9126 Transcript NM_005445.4 protein_coding 29/29 - - - 3731 3609 1203 A gcA/gcG COSV105276820 - 1 - EntrezGene HGNC:2468 ENST00000361804.5 - - - - RefSeq - A A - - - - - 1 1 - - - - - - . 10:110881295-110881295 G missense_variant MODERATE PDCD4 ENSG00000150593 Transcript ENST00000280154.12 protein_coding 3/12 - - - 259 106 36 I/V Ata/Gta rs7081726 - 1 - HGNC HGNC:8763 NM_014456.5 - 1 P1 - Ensembl - A A - tolerated(0.44) - 0.9185 - - - - - - - - - . 10:110881295-110881295 G missense_variant MODERATE PDCD4 ENSG00000150593 Transcript ENST00000393104.6 protein_coding 4/13 - - - 476 73 25 I/V Ata/Gta rs7081726 - 1 - HGNC HGNC:8763 - - 1 - - Ensembl - A A - tolerated(0.46) - 0.9185 - - - - - - - - - . 10:110881295-110881295 G missense_variant MODERATE PDCD4 ENSG00000150593 Transcript ENST00000444997.1 protein_coding 3/6 - - - 190 64 22 I/V Ata/Gta rs7081726 - 1 cds_end_NF HGNC HGNC:8763 - - 3 - - Ensembl - A A - tolerated_low_confidence(0.4) benign(0) 0.9185 - - - - - - - - - . 10:110881295-110881295 G upstream_gene_variant MODIFIER PDCD4 ENSG00000150593 Transcript ENST00000462577.5 protein_coding_CDS_not_defined - - - - - - - - - rs7081726 3958 1 - HGNC HGNC:8763 - - 5 - - Ensembl - A A - - - 0.9185 - - - - - - - - - . 10:110881295-110881295 G non_coding_transcript_exon_variant MODIFIER PDCD4 ENSG00000150593 Transcript ENST00000467574.5 protein_coding_CDS_not_defined 2/5 - - - 189 - - - - rs7081726 - 1 - HGNC HGNC:8763 - - 3 - - Ensembl - A A - - - 0.9185 - - - - - - - - - . 10:110881295-110881295 G upstream_gene_variant MODIFIER PDCD4 ENSG00000150593 Transcript ENST00000481353.5 protein_coding_CDS_not_defined - - - - - - - - - rs7081726 3476 1 - HGNC HGNC:8763 - - 2 - - Ensembl - A A - - - 0.9185 - - - - - - - - - . 10:110881295-110881295 G non_coding_transcript_exon_variant MODIFIER PDCD4 ENSG00000150593 Transcript ENST00000483670.5 protein_coding_CDS_not_defined 4/6 - - - 352 - - - - rs7081726 - 1 - HGNC HGNC:8763 - - 5 - - Ensembl - A A - - - 0.9185 - - - - - - - - - . 10:110881295-110881295 G non_coding_transcript_exon_variant MODIFIER PDCD4 ENSG00000150593 Transcript ENST00000492932.5 protein_coding_CDS_not_defined 2/5 - - - 230 - - - - rs7081726 - 1 - HGNC HGNC:8763 - - 3 - - Ensembl - A A - - - 0.9185 - - - - - - - - - . 10:110881295-110881295 G missense_variant MODERATE PDCD4 27250 Transcript NM_001199492.2 protein_coding 3/12 - - - 217 64 22 I/V Ata/Gta rs7081726 - 1 - EntrezGene HGNC:8763 - - - - - RefSeq - A A - tolerated(0.49) benign(0) 0.9185 - - - - - - - - - . 10:110881295-110881295 G missense_variant MODERATE PDCD4 27250 Transcript NM_014456.5 protein_coding 3/12 - - - 259 106 36 I/V Ata/Gta rs7081726 - 1 - EntrezGene HGNC:8763 ENST00000280154.12 - - - - RefSeq - A A - tolerated(0.44) - 0.9185 - - - - - - - - - . 10:110881295-110881295 G missense_variant MODERATE PDCD4 27250 Transcript NM_145341.4 protein_coding 4/13 - - - 343 73 25 I/V Ata/Gta rs7081726 - 1 - EntrezGene HGNC:8763 - - - - - RefSeq - A A - tolerated(0.46) - 0.9185 - - - - - - - - - . 10:112153464-112153464 C 3_prime_UTR_variant MODIFIER GPAM ENSG00000119927 Transcript ENST00000348367.9 protein_coding 22/22 - - - 2773 - - - - rs2297991 - -1 - HGNC HGNC:24865 NM_001244949.2 - 1 P1 - Ensembl - T T - - - 0.7306 - - 1 16385451,25961943,29582564,29507422,29403010,32242144,31217584,34594039,35213538,36142332,35474605,36501135 - - - - - . 10:112153464-112153464 C downstream_gene_variant MODIFIER GPAM ENSG00000119927 Transcript ENST00000369425.5 protein_coding - - - - - - - - - rs2297991 406 -1 - HGNC HGNC:24865 - - 1 - - Ensembl - T T - - - 0.7306 - - 1 16385451,25961943,29582564,29507422,29403010,32242144,31217584,34594039,35213538,36142332,35474605,36501135 - - - - - . 10:112153464-112153464 C 3_prime_UTR_variant MODIFIER GPAM 57678 Transcript NM_001244949.2 protein_coding 22/22 - - - 2773 - - - - rs2297991 - -1 - EntrezGene HGNC:24865 ENST00000348367.9 - - - - RefSeq - T T - - - 0.7306 - - 1 16385451,25961943,29582564,29507422,29403010,32242144,31217584,34594039,35213538,36142332,35474605,36501135 - - - - - . 10:112153464-112153464 C 3_prime_UTR_variant MODIFIER GPAM 57678 Transcript NM_020918.6 protein_coding 22/22 - - - 2769 - - - - rs2297991 - -1 - EntrezGene HGNC:24865 - - - - - RefSeq - T T - - - 0.7306 - - 1 16385451,25961943,29582564,29507422,29403010,32242144,31217584,34594039,35213538,36142332,35474605,36501135 - - - - - . 10:112153464-112153464 C 3_prime_UTR_variant MODIFIER GPAM 57678 Transcript XM_005269998.2 protein_coding 22/22 - - - 2924 - - - - rs2297991 - -1 - EntrezGene HGNC:24865 - - - - - RefSeq - T T - - - 0.7306 - - 1 16385451,25961943,29582564,29507422,29403010,32242144,31217584,34594039,35213538,36142332,35474605,36501135 - - - - - . 10:112153464-112153464 C 3_prime_UTR_variant MODIFIER GPAM 57678 Transcript XM_024448089.2 protein_coding 23/23 - - - 3021 - - - - rs2297991 - -1 - EntrezGene HGNC:24865 - - - - - RefSeq - T T - - - 0.7306 - - 1 16385451,25961943,29582564,29507422,29403010,32242144,31217584,34594039,35213538,36142332,35474605,36501135 - - - - - . 10:112153464-112153464 C 3_prime_UTR_variant MODIFIER GPAM 57678 Transcript XM_047425564.1 protein_coding 23/23 - - - 2997 - - - - rs2297991 - -1 - EntrezGene HGNC:24865 - - - - - RefSeq - T T - - - 0.7306 - - 1 16385451,25961943,29582564,29507422,29403010,32242144,31217584,34594039,35213538,36142332,35474605,36501135 - - - - - . 10:112163837-112163837 G intron_variant MODIFIER GPAM ENSG00000119927 Transcript ENST00000348367.9 protein_coding - 13/21 - - - - - - - rs10736219,COSV62081342 - -1 - HGNC HGNC:24865 NM_001244949.2 - 1 P1 - Ensembl - C C - - - 0.5531 - 0,1 0,1 - - - - - - . 10:112163837-112163837 G intron_variant MODIFIER GPAM ENSG00000119927 Transcript ENST00000369425.5 protein_coding - 13/18 - - - - - - - rs10736219,COSV62081342 - -1 - HGNC HGNC:24865 - - 1 - - Ensembl - C C - - - 0.5531 - 0,1 0,1 - - - - - - . 10:112163837-112163837 G intron_variant MODIFIER GPAM 57678 Transcript NM_001244949.2 protein_coding - 13/21 - - - - - - - rs10736219,COSV62081342 - -1 - EntrezGene HGNC:24865 ENST00000348367.9 - - - - RefSeq - C C - - - 0.5531 - 0,1 0,1 - - - - - - . 10:112163837-112163837 G intron_variant MODIFIER GPAM 57678 Transcript NM_020918.6 protein_coding - 13/21 - - - - - - - rs10736219,COSV62081342 - -1 - EntrezGene HGNC:24865 - - - - - RefSeq - C C - - - 0.5531 - 0,1 0,1 - - - - - - . 10:112163837-112163837 G intron_variant MODIFIER GPAM 57678 Transcript XM_005269998.2 protein_coding - 13/21 - - - - - - - rs10736219,COSV62081342 - -1 - EntrezGene HGNC:24865 - - - - - RefSeq - C C - - - 0.5531 - 0,1 0,1 - - - - - - . 10:112163837-112163837 G intron_variant MODIFIER GPAM 57678 Transcript XM_024448089.2 protein_coding - 14/22 - - - - - - - rs10736219,COSV62081342 - -1 - EntrezGene HGNC:24865 - - - - - RefSeq - C C - - - 0.5531 - 0,1 0,1 - - - - - - . 10:112163837-112163837 G intron_variant MODIFIER GPAM 57678 Transcript XM_047425564.1 protein_coding - 14/22 - - - - - - - rs10736219,COSV62081342 - -1 - EntrezGene HGNC:24865 - - - - - RefSeq - C C - - - 0.5531 - 0,1 0,1 - - - - - - . 10:112409518-112409518 G missense_variant MODERATE ACSL5 ENSG00000197142 Transcript ENST00000354273.5 protein_coding 7/19 - - - 801 712 238 M/V Atg/Gtg rs3736946,COSV61130320 - 1 - HGNC HGNC:16526 - - 1 - - Ensembl - A A - tolerated_low_confidence(0.12) benign(0) 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G missense_variant MODERATE ACSL5 ENSG00000197142 Transcript ENST00000354655.9 protein_coding 7/21 - - - 727 544 182 M/V Atg/Gtg rs3736946,COSV61130320 - 1 - HGNC HGNC:16526 NM_203379.2 - 2 P1 - Ensembl - A A - tolerated_low_confidence(0.16) benign(0) 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G missense_variant MODERATE ACSL5 ENSG00000197142 Transcript ENST00000356116.6 protein_coding 7/21 - - - 817 712 238 M/V Atg/Gtg rs3736946,COSV61130320 - 1 - HGNC HGNC:16526 - - 1 - - Ensembl - A A - tolerated_low_confidence(0.16) benign(0) 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G missense_variant MODERATE ACSL5 ENSG00000197142 Transcript ENST00000393081.6 protein_coding 7/21 - - - 881 544 182 M/V Atg/Gtg rs3736946,COSV61130320 - 1 - HGNC HGNC:16526 - - 5 P1 - Ensembl - A A - tolerated_low_confidence(0.16) benign(0) 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G downstream_gene_variant MODIFIER - ENSG00000232934 Transcript ENST00000424422.1 lncRNA - - - - - - - - - rs3736946,COSV61130320 2777 -1 - - - - - 3 - - Ensembl - A A - - - 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G missense_variant MODERATE ACSL5 ENSG00000197142 Transcript ENST00000433418.6 protein_coding 7/20 - - - 824 712 238 M/V Atg/Gtg rs3736946,COSV61130320 - 1 - HGNC HGNC:16526 - - 5 - - Ensembl - A A - tolerated_low_confidence(0.15) benign(0) 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G upstream_gene_variant MODIFIER - ENSG00000232934 Transcript ENST00000449782.6 lncRNA - - - - - - - - - rs3736946,COSV61130320 28 -1 - - - - - 5 - - Ensembl - A A - - - 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G upstream_gene_variant MODIFIER ACSL5 ENSG00000197142 Transcript ENST00000467340.1 retained_intron - - - - - - - - - rs3736946,COSV61130320 1865 1 - HGNC HGNC:16526 - - 2 - - Ensembl - A A - - - 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G upstream_gene_variant MODIFIER ACSL5 ENSG00000197142 Transcript ENST00000495539.5 nonsense_mediated_decay - - - - - - - - - rs3736946,COSV61130320 15 1 cds_start_NF HGNC HGNC:16526 - - 2 - - Ensembl - A A - - - 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G upstream_gene_variant MODIFIER - ENSG00000232934 Transcript ENST00000594870.2 lncRNA - - - - - - - - - rs3736946,COSV61130320 24 -1 - - - - - 3 - - Ensembl - A A - - - 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G upstream_gene_variant MODIFIER - ENSG00000232934 Transcript ENST00000598447.5 lncRNA - - - - - - - - - rs3736946,COSV61130320 28 -1 - - - - - 5 - - Ensembl - A A - - - 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G upstream_gene_variant MODIFIER - ENSG00000232934 Transcript ENST00000627339.2 lncRNA - - - - - - - - - rs3736946,COSV61130320 60 -1 - - - - - 5 - - Ensembl - A A - - - 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G non_coding_transcript_exon_variant MODIFIER - ENSG00000232934 Transcript ENST00000631085.2 lncRNA 4/5 - - - 461 - - - - rs3736946,COSV61130320 - -1 - - - - - 5 - - Ensembl - A A - - - 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G downstream_gene_variant MODIFIER - ENSG00000232934 Transcript ENST00000669015.1 lncRNA - - - - - - - - - rs3736946,COSV61130320 2833 -1 - - - - - - - - Ensembl - A A - - - 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G missense_variant MODERATE ACSL5 51703 Transcript NM_001387037.1 protein_coding 7/20 - - - 817 712 238 M/V Atg/Gtg rs3736946,COSV61130320 - 1 - EntrezGene HGNC:16526 - - - - - RefSeq - A A - tolerated_low_confidence(0.15) benign(0) 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G missense_variant MODERATE ACSL5 51703 Transcript NM_016234.4 protein_coding 7/21 - - - 817 712 238 M/V Atg/Gtg rs3736946,COSV61130320 - 1 - EntrezGene HGNC:16526 - - - - - RefSeq - A A - tolerated_low_confidence(0.16) benign(0) 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G missense_variant MODERATE ACSL5 51703 Transcript NM_203379.2 protein_coding 7/21 - - - 727 544 182 M/V Atg/Gtg rs3736946,COSV61130320 - 1 - EntrezGene HGNC:16526 ENST00000354655.9 - - - - RefSeq - A A - tolerated_low_confidence(0.16) benign(0) 0.0695 - 0,1 1,1 33462484 - - - - - . 10:112409518-112409518 G missense_variant MODERATE ACSL5 51703 Transcript NM_203380.2 protein_coding 7/21 - - - 848 544 182 M/V Atg/Gtg rs3736946,COSV61130320 - 1 - EntrezGene HGNC:16526 - - - - - RefSeq - A A - tolerated_low_confidence(0.16) benign(0) 0.0695 - 0,1 1,1 33462484 - - - - - . 10:113482961-113482961 A non_coding_transcript_exon_variant MODIFIER PPIAP39 ENSG00000230018 Transcript ENST00000415988.1 processed_pseudogene 1/1 - - - 346 - - - - rs3758592 - 1 - HGNC HGNC:53663 - - - - - Ensembl - T T - - - 0.7963 - - - - - - - - - . 10:113482961-113482961 A non_coding_transcript_exon_variant MODIFIER - ENSG00000286289 Transcript ENST00000658845.1 lncRNA 2/2 - - - 2719 - - - - rs3758592 - -1 - - - - - - - - Ensembl - T T - - - 0.7963 - - - - - - - - - . 10:113482961-113482961 A non_coding_transcript_exon_variant MODIFIER LOC107984270 107984270 Transcript XR_001747591.2 lncRNA 2/2 - - - 2994 - - - - rs3758592 - -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.7963 - - - - - - - - - . 10:113482961-113482961 A non_coding_transcript_exon_variant MODIFIER LOC107984270 107984270 Transcript XR_001747592.2 lncRNA 2/2 - - - 3471 - - - - rs3758592 - -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.7963 - - - - - - - - - . 10:113574365-113574365 T synonymous_variant LOW HABP2 ENSG00000148702 Transcript ENST00000351270.4 protein_coding 3/13 - - - 252 183 61 H caC/caT rs3740530,COSV63637970 - 1 - HGNC HGNC:4798 NM_004132.5 - 1 P1 - Ensembl - C C - - - 0.5345 benign 0,1 1,1 30826992,35255942 - - - - - . 10:113574365-113574365 T downstream_gene_variant MODIFIER HABP2 ENSG00000148702 Transcript ENST00000460714.1 protein_coding_CDS_not_defined - - - - - - - - - rs3740530,COSV63637970 4207 1 - HGNC HGNC:4798 - - 3 - - Ensembl - C C - - - 0.5345 benign 0,1 1,1 30826992,35255942 - - - - - . 10:113574365-113574365 T synonymous_variant LOW HABP2 ENSG00000148702 Transcript ENST00000542051.5 protein_coding 3/13 - - - 239 105 35 H caC/caT rs3740530,COSV63637970 - 1 - HGNC HGNC:4798 - - 2 - - Ensembl - C C - - - 0.5345 benign 0,1 1,1 30826992,35255942 - - - - - . 10:113574365-113574365 T synonymous_variant LOW HABP2 3026 Transcript NM_001177660.3 protein_coding 3/13 - - - 245 105 35 H caC/caT rs3740530,COSV63637970 - 1 - EntrezGene HGNC:4798 - - - - - RefSeq - C C - - - 0.5345 benign 0,1 1,1 30826992,35255942 - - - - - . 10:113574365-113574365 T synonymous_variant LOW HABP2 3026 Transcript NM_004132.5 protein_coding 3/13 - - - 252 183 61 H caC/caT rs3740530,COSV63637970 - 1 - EntrezGene HGNC:4798 ENST00000351270.4 - - - - RefSeq - C C - - - 0.5345 benign 0,1 1,1 30826992,35255942 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP ENSG00000197893 Transcript ENST00000359988.4 protein_coding 15/42 - - - 1628 1469 490 S/L tCg/tTg rs3189030,COSV63489230 - -1 - HGNC HGNC:7988 NM_198060.4 - 1 P4 - Ensembl - G G - tolerated(0.06) benign(0.007) 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP ENSG00000197893 Transcript ENST00000360478.7 protein_coding 14/41 - - - 1552 1364 455 S/L tCg/tTg rs3189030,COSV63489230 - -1 - HGNC HGNC:7988 - - 1 - - Ensembl - G G - deleterious(0.02) benign(0.018) 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP ENSG00000197893 Transcript ENST00000369358.8 protein_coding 15/42 - - - 1657 1469 490 S/L tCg/tTg rs3189030,COSV63489230 - -1 - HGNC HGNC:7988 - - 1 A1 - Ensembl - G G - tolerated(0.06) benign(0.084) 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP ENSG00000197893 Transcript ENST00000369360.7 protein_coding 14/41 - - - 1528 1364 455 S/L tCg/tTg rs3189030,COSV63489230 - -1 - HGNC HGNC:7988 - - 5 - - Ensembl - G G - deleterious(0.02) benign(0.027) 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP 4892 Transcript NM_001261463.2 protein_coding 15/42 - - - 1628 1469 490 S/L tCg/tTg rs3189030,COSV63489230 - -1 - EntrezGene HGNC:7988 - - - - - RefSeq - G G - tolerated(0.06) benign(0.084) 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP 4892 Transcript NM_001322945.2 protein_coding 15/41 - - - 1628 1469 490 S/L tCg/tTg rs3189030,COSV63489230 - -1 - EntrezGene HGNC:7988 - - - - - RefSeq - G G - tolerated(0.06) benign(0.043) 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP 4892 Transcript NM_006175.5 protein_coding 14/41 - - - 1523 1364 455 S/L tCg/tTg rs3189030,COSV63489230 - -1 - EntrezGene HGNC:7988 - - - - - RefSeq - G G - deleterious(0.02) benign(0.018) 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP 4892 Transcript NM_198060.4 protein_coding 15/42 - - - 1628 1469 490 S/L tCg/tTg rs3189030,COSV63489230 - -1 - EntrezGene HGNC:7988 ENST00000359988.4 - - - - RefSeq - G G - tolerated(0.06) benign(0.007) 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP 4892 Transcript XM_005269864.3 protein_coding 14/41 - - - 1523 1364 455 S/L tCg/tTg rs3189030,COSV63489230 - -1 - EntrezGene HGNC:7988 - - - - - RefSeq - G G - - - 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP 4892 Transcript XM_005269865.3 protein_coding 15/41 - - - 1628 1469 490 S/L tCg/tTg rs3189030,COSV63489230 - -1 - EntrezGene HGNC:7988 - - - - - RefSeq - G G - - - 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP 4892 Transcript XM_005269867.3 protein_coding 15/41 - - - 1628 1469 490 S/L tCg/tTg rs3189030,COSV63489230 - -1 - EntrezGene HGNC:7988 - - - - - RefSeq - G G - - - 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP 4892 Transcript XM_006717870.3 protein_coding 15/41 - - - 1628 1469 490 S/L tCg/tTg rs3189030,COSV63489230 - -1 - EntrezGene HGNC:7988 - - - - - RefSeq - G G - - - 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP 4892 Transcript XM_011539832.3 protein_coding 15/41 - - - 1628 1469 490 S/L tCg/tTg rs3189030,COSV63489230 - -1 - EntrezGene HGNC:7988 - - - - - RefSeq - G G - - - 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP 4892 Transcript XM_024448029.2 protein_coding 15/41 - - - 1628 1469 490 S/L tCg/tTg rs3189030,COSV63489230 - -1 - EntrezGene HGNC:7988 - - - - - RefSeq - G G - - - 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113634170-113634170 A missense_variant MODERATE NRAP 4892 Transcript XM_047425253.1 protein_coding 15/41 - - - 1628 1469 490 S/L tCg/tTg rs3189030,COSV63489230 - -1 - EntrezGene HGNC:7988 - - - - - RefSeq - G G - - - 0.2907 benign 0,1 1,1 16385451,29874175 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 ENSG00000165806 Transcript ENST00000345633.8 protein_coding 8/8 - - - 1149 765 255 D/E gaC/gaG rs2227310,COSV61881355 - 1 - HGNC HGNC:1508 - - 1 P1 - Ensembl - C C - tolerated(1) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 ENSG00000165806 Transcript ENST00000369315.5 protein_coding 8/8 - - - 911 765 255 D/E gaC/gaG rs2227310,COSV61881355 - 1 - HGNC HGNC:1508 - - 1 P1 - Ensembl - C C - tolerated(1) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 ENSG00000165806 Transcript ENST00000369318.8 protein_coding 7/7 - - - 832 765 255 D/E gaC/gaG rs2227310,COSV61881355 - 1 - HGNC HGNC:1508 NM_001227.5 - 1 P1 - Ensembl - C C - tolerated(1) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 ENSG00000165806 Transcript ENST00000369321.6 protein_coding 7/7 - - - 1106 1020 340 D/E gaC/gaG rs2227310,COSV61881355 - 1 - HGNC HGNC:1508 - - 2 - - Ensembl - C C - tolerated_low_confidence(0.98) benign(0.003) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 ENSG00000165806 Transcript ENST00000369331.8 protein_coding 8/8 - - - 877 731 244 T/S aCc/aGc rs2227310,COSV61881355 - 1 - HGNC HGNC:1508 - - 1 - - Ensembl - C C - tolerated_low_confidence(0.77) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G downstream_gene_variant MODIFIER CASP7 ENSG00000165806 Transcript ENST00000429617.5 protein_coding - - - - - - - - - rs2227310,COSV61881355 2974 1 cds_end_NF HGNC HGNC:1508 - - 3 - - Ensembl - C C - - - 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 ENSG00000165806 Transcript ENST00000452490.3 protein_coding 6/6 - - - 757 690 230 D/E gaC/gaG rs2227310,COSV61881355 - 1 - HGNC HGNC:1508 - - 2 - - Ensembl - C C - tolerated(1) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G non_coding_transcript_exon_variant MODIFIER CASP7 ENSG00000165806 Transcript ENST00000487232.1 retained_intron 5/5 - - - 689 - - - - rs2227310,COSV61881355 - 1 - HGNC HGNC:1508 - - 2 - - Ensembl - C C - - - 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 ENSG00000165806 Transcript ENST00000614447.4 protein_coding 8/8 - - - 1041 731 244 T/S aCc/aGc rs2227310,COSV61881355 - 1 - HGNC HGNC:1508 - - 5 - - Ensembl - C C - tolerated_low_confidence(0.77) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 ENSG00000165806 Transcript ENST00000621345.4 protein_coding 7/7 - - - 953 765 255 D/E gaC/gaG rs2227310,COSV61881355 - 1 - HGNC HGNC:1508 - - 1 P1 - Ensembl - C C - tolerated(1) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 ENSG00000165806 Transcript ENST00000621607.4 protein_coding 7/7 - - - 864 864 288 D/E gaC/gaG rs2227310,COSV61881355 - 1 - HGNC HGNC:1508 - - 1 - - Ensembl - C C - tolerated(1) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 ENSG00000165806 Transcript ENST00000672138.1 protein_coding 6/6 - - - 841 762 254 D/E gaC/gaG rs2227310,COSV61881355 - 1 - HGNC HGNC:1508 - - - - - Ensembl - C C - tolerated(0.96) benign(0.001) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 840 Transcript NM_001227.5 protein_coding 7/7 - - - 832 765 255 D/E gaC/gaG rs2227310,COSV61881355 - 1 - EntrezGene HGNC:1508 ENST00000369318.8 - - - - RefSeq - C C - tolerated(1) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 840 Transcript NM_001267056.2 protein_coding 7/7 - - - 921 765 255 D/E gaC/gaG rs2227310,COSV61881355 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 840 Transcript NM_001267057.1 protein_coding 7/7 - - - 1106 1020 340 D/E gaC/gaG rs2227310,COSV61881355 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - C C OK tolerated_low_confidence(0.98) benign(0.003) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 840 Transcript NM_001267058.2 protein_coding 6/6 - - - 724 690 230 D/E gaC/gaG rs2227310,COSV61881355 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 840 Transcript NM_001320911.2 protein_coding 7/7 - - - 952 789 263 D/E gaC/gaG rs2227310,COSV61881355 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 840 Transcript NM_033338.6 protein_coding 8/8 - - - 939 864 288 D/E gaC/gaG rs2227310,COSV61881355 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 840 Transcript NM_033339.5 protein_coding 8/8 - - - 906 765 255 D/E gaC/gaG rs2227310,COSV61881355 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - C C - tolerated(1) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 840 Transcript NM_033340.4 protein_coding 8/8 - - - 887 731 244 T/S aCc/aGc rs2227310,COSV61881355 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - C C - tolerated_low_confidence(0.77) benign(0) 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 840 Transcript XM_006718017.4 protein_coding 7/7 - - - 870 807 269 D/E gaC/gaG rs2227310,COSV61881355 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - C C - - - 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 840 Transcript XM_011540260.2 protein_coding 6/6 - - - 1075 666 222 D/E gaC/gaG rs2227310,COSV61881355 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - C C - - - 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729393-113729393 G missense_variant MODERATE CASP7 840 Transcript XM_017016763.2 protein_coding 7/7 - - - 1277 822 274 D/E gaC/gaG rs2227310,COSV61881355 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - C C - - - 0.2498 benign 0,1 1,1 19604093,23720679,22500158,29542026,28453560,19826114,20661084,27723786,26403071,16385451,17504820,19058873,20567846,31819117,30906769,24040159,21342648,26307684,20445773,19203830,23765963,28987347,22441531,33469117,21617726 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 ENSG00000165806 Transcript ENST00000345633.8 protein_coding 8/8 - - - 1164 780 260 Q caG/caA rs2227309,COSV61881361 - 1 - HGNC HGNC:1508 - - 1 P1 - Ensembl - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 ENSG00000165806 Transcript ENST00000369315.5 protein_coding 8/8 - - - 926 780 260 Q caG/caA rs2227309,COSV61881361 - 1 - HGNC HGNC:1508 - - 1 P1 - Ensembl - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 ENSG00000165806 Transcript ENST00000369318.8 protein_coding 7/7 - - - 847 780 260 Q caG/caA rs2227309,COSV61881361 - 1 - HGNC HGNC:1508 NM_001227.5 - 1 P1 - Ensembl - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 ENSG00000165806 Transcript ENST00000369321.6 protein_coding 7/7 - - - 1121 1035 345 Q caG/caA rs2227309,COSV61881361 - 1 - HGNC HGNC:1508 - - 2 - - Ensembl - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A missense_variant MODERATE CASP7 ENSG00000165806 Transcript ENST00000369331.8 protein_coding 8/8 - - - 892 746 249 R/K aGa/aAa rs2227309,COSV61881361 - 1 - HGNC HGNC:1508 - - 1 - - Ensembl - G G - tolerated_low_confidence(0.06) benign(0) 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A downstream_gene_variant MODIFIER CASP7 ENSG00000165806 Transcript ENST00000429617.5 protein_coding - - - - - - - - - rs2227309,COSV61881361 2989 1 cds_end_NF HGNC HGNC:1508 - - 3 - - Ensembl - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 ENSG00000165806 Transcript ENST00000452490.3 protein_coding 6/6 - - - 772 705 235 Q caG/caA rs2227309,COSV61881361 - 1 - HGNC HGNC:1508 - - 2 - - Ensembl - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A non_coding_transcript_exon_variant MODIFIER CASP7 ENSG00000165806 Transcript ENST00000487232.1 retained_intron 5/5 - - - 704 - - - - rs2227309,COSV61881361 - 1 - HGNC HGNC:1508 - - 2 - - Ensembl - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A missense_variant MODERATE CASP7 ENSG00000165806 Transcript ENST00000614447.4 protein_coding 8/8 - - - 1056 746 249 R/K aGa/aAa rs2227309,COSV61881361 - 1 - HGNC HGNC:1508 - - 5 - - Ensembl - G G - tolerated_low_confidence(0.06) benign(0) 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 ENSG00000165806 Transcript ENST00000621345.4 protein_coding 7/7 - - - 968 780 260 Q caG/caA rs2227309,COSV61881361 - 1 - HGNC HGNC:1508 - - 1 P1 - Ensembl - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 ENSG00000165806 Transcript ENST00000621607.4 protein_coding 7/7 - - - 879 879 293 Q caG/caA rs2227309,COSV61881361 - 1 - HGNC HGNC:1508 - - 1 - - Ensembl - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 ENSG00000165806 Transcript ENST00000672138.1 protein_coding 6/6 - - - 856 777 259 Q caG/caA rs2227309,COSV61881361 - 1 - HGNC HGNC:1508 - - - - - Ensembl - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 840 Transcript NM_001227.5 protein_coding 7/7 - - - 847 780 260 Q caG/caA rs2227309,COSV61881361 - 1 - EntrezGene HGNC:1508 ENST00000369318.8 - - - - RefSeq - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 840 Transcript NM_001267056.2 protein_coding 7/7 - - - 936 780 260 Q caG/caA rs2227309,COSV61881361 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 840 Transcript NM_001267057.1 protein_coding 7/7 - - - 1121 1035 345 Q caG/caA rs2227309,COSV61881361 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - G G OK - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 840 Transcript NM_001267058.2 protein_coding 6/6 - - - 739 705 235 Q caG/caA rs2227309,COSV61881361 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 840 Transcript NM_001320911.2 protein_coding 7/7 - - - 967 804 268 Q caG/caA rs2227309,COSV61881361 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 840 Transcript NM_033338.6 protein_coding 8/8 - - - 954 879 293 Q caG/caA rs2227309,COSV61881361 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 840 Transcript NM_033339.5 protein_coding 8/8 - - - 921 780 260 Q caG/caA rs2227309,COSV61881361 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A missense_variant MODERATE CASP7 840 Transcript NM_033340.4 protein_coding 8/8 - - - 902 746 249 R/K aGa/aAa rs2227309,COSV61881361 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - G G - tolerated_low_confidence(0.06) benign(0) 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 840 Transcript XM_006718017.4 protein_coding 7/7 - - - 885 822 274 Q caG/caA rs2227309,COSV61881361 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 840 Transcript XM_011540260.2 protein_coding 6/6 - - - 1090 681 227 Q caG/caA rs2227309,COSV61881361 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113729408-113729408 A synonymous_variant LOW CASP7 840 Transcript XM_017016763.2 protein_coding 7/7 - - - 1292 837 279 Q caG/caA rs2227309,COSV61881361 - 1 - EntrezGene HGNC:1508 - - - - - RefSeq - G G - - - 0.2498 - 0,1 0,1 23251581,29542026,20453000,26988918,27686742,17504820,18785314,19058873,19782763,24040159 - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000361048.6 protein_coding - 2/11 - - - - - - - rs4631835,COSV63055483 - 1 - HGNC HGNC:26285 - - 2 - - Ensembl - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000369310.7 protein_coding - 1/11 - - - - - - - rs4631835,COSV63055483 - 1 - HGNC HGNC:26285 - - 1 - - Ensembl - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000369312.9 protein_coding - 2/12 - - - - - - - rs4631835,COSV63055483 - 1 - HGNC HGNC:26285 - - 2 - - Ensembl - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000619563.5 protein_coding - 2/10 - - - - - - - rs4631835,COSV63055483 - 1 - HGNC HGNC:26285 - - 5 - - Ensembl - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000650852.1 protein_coding - 3/5 - - - - - - - rs4631835,COSV63055483 - 1 cds_end_NF HGNC HGNC:26285 - - - - - Ensembl - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000652564.1 protein_coding - 1/5 - - - - - - - rs4631835,COSV63055483 - 1 cds_end_NF HGNC HGNC:26285 - - - - - Ensembl - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000694986.1 protein_coding - 2/12 - - - - - - - rs4631835,COSV63055483 - 1 - HGNC HGNC:26285 NM_001395068.1 - - P1 - Ensembl - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 79949 Transcript NM_001193434.2 protein_coding - 2/12 - - - - - - - rs4631835,COSV63055483 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 79949 Transcript NM_001193435.2 protein_coding - 2/10 - - - - - - - rs4631835,COSV63055483 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 79949 Transcript NM_001395068.1 protein_coding - 2/12 - - - - - - - rs4631835,COSV63055483 - 1 - EntrezGene HGNC:26285 ENST00000694986.1 - - - - RefSeq - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 79949 Transcript NM_024889.5 protein_coding - 2/11 - - - - - - - rs4631835,COSV63055483 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 79949 Transcript NM_182601.2 protein_coding - 1/11 - - - - - - - rs4631835,COSV63055483 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 79949 Transcript XM_005270163.3 protein_coding - 2/12 - - - - - - - rs4631835,COSV63055483 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 79949 Transcript XM_011540171.2 protein_coding - 2/12 - - - - - - - rs4631835,COSV63055483 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 79949 Transcript XM_011540173.2 protein_coding - 2/12 - - - - - - - rs4631835,COSV63055483 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 79949 Transcript XM_011540174.3 protein_coding - 2/11 - - - - - - - rs4631835,COSV63055483 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 79949 Transcript XM_011540175.2 protein_coding - 2/12 - - - - - - - rs4631835,COSV63055483 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 79949 Transcript XM_011540176.2 protein_coding - 2/10 - - - - - - - rs4631835,COSV63055483 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113765416-113765416 C intron_variant MODIFIER PLEKHS1 79949 Transcript XM_017016666.2 protein_coding - 2/10 - - - - - - - rs4631835,COSV63055483 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.6504 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 ENSG00000148735 Transcript ENST00000361048.6 protein_coding 7/12 - - - 940 469 157 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - HGNC HGNC:26285 - - 2 - - Ensembl - T T - tolerated(0.09) benign(0.203) 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A upstream_gene_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000369309.5 protein_coding_CDS_not_defined - - - - - - - - - rs41292632,COSV63054448 1436 1 - HGNC HGNC:26285 - - 5 - - Ensembl - T T - - - 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 ENSG00000148735 Transcript ENST00000369310.7 protein_coding 6/12 - - - 1013 451 151 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - HGNC HGNC:26285 - - 1 - - Ensembl - T T - tolerated(0.39) benign(0.404) 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 ENSG00000148735 Transcript ENST00000369312.9 protein_coding 7/13 - - - 668 205 69 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - HGNC HGNC:26285 - - 2 - - Ensembl - T T - tolerated(0.11) benign(0.136) 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 ENSG00000148735 Transcript ENST00000619563.5 protein_coding 5/11 - - - 472 205 69 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - HGNC HGNC:26285 - - 5 - - Ensembl - T T - tolerated(0.11) benign(0.136) 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A downstream_gene_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000650852.1 protein_coding - - - - - - - - - rs41292632,COSV63054448 2448 1 cds_end_NF HGNC HGNC:26285 - - - - - Ensembl - T T - - - 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 ENSG00000148735 Transcript ENST00000652564.1 protein_coding 6/6 - - - 567 205 69 F/I Ttc/Atc rs41292632,COSV63054448 - 1 cds_end_NF HGNC HGNC:26285 - - - - - Ensembl - T T - tolerated_low_confidence(0.13) benign(0.369) 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 ENSG00000148735 Transcript ENST00000694986.1 protein_coding 7/13 - - - 568 469 157 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - HGNC HGNC:26285 NM_001395068.1 - - P1 - Ensembl - T T - tolerated(0.23) benign(0.35) 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 79949 Transcript NM_001193434.2 protein_coding 7/13 - - - 668 205 69 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - tolerated(0.11) benign(0.136) 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 79949 Transcript NM_001193435.2 protein_coding 5/11 - - - 472 205 69 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - tolerated(0.11) benign(0.136) 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 79949 Transcript NM_001395068.1 protein_coding 7/13 - - - 568 469 157 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - EntrezGene HGNC:26285 ENST00000694986.1 - - - - RefSeq - T T - tolerated(0.23) benign(0.35) 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 79949 Transcript NM_024889.5 protein_coding 7/12 - - - 568 469 157 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - tolerated(0.09) benign(0.203) 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 79949 Transcript NM_182601.2 protein_coding 6/12 - - - 1013 451 151 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - tolerated(0.39) benign(0.404) 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 79949 Transcript XM_005270163.3 protein_coding 7/13 - - - 568 469 157 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 79949 Transcript XM_011540171.2 protein_coding 7/13 - - - 568 469 157 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 79949 Transcript XM_011540173.2 protein_coding 7/13 - - - 568 469 157 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 79949 Transcript XM_011540174.3 protein_coding 7/12 - - - 568 469 157 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 79949 Transcript XM_011540175.2 protein_coding 7/13 - - - 668 205 69 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 79949 Transcript XM_011540176.2 protein_coding 5/11 - - - 472 205 69 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2003 - 0,1 0,1 - - - - - - . 10:113769817-113769817 A missense_variant MODERATE PLEKHS1 79949 Transcript XM_017016666.2 protein_coding 7/11 - - - 568 469 157 F/I Ttc/Atc rs41292632,COSV63054448 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2003 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 ENSG00000148735 Transcript ENST00000361048.6 protein_coding 11/12 - - - 1536 1065 355 A gcT/gcC rs3750901,COSV63054461 - 1 - HGNC HGNC:26285 - - 2 - - Ensembl - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C non_coding_transcript_exon_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000369309.5 protein_coding_CDS_not_defined 5/7 - - - 540 - - - - rs3750901,COSV63054461 - 1 - HGNC HGNC:26285 - - 5 - - Ensembl - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 ENSG00000148735 Transcript ENST00000369310.7 protein_coding 10/12 - - - 1567 1005 335 A gcT/gcC rs3750901,COSV63054461 - 1 - HGNC HGNC:26285 - - 1 - - Ensembl - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 ENSG00000148735 Transcript ENST00000369312.9 protein_coding 11/13 - - - 1222 759 253 A gcT/gcC rs3750901,COSV63054461 - 1 - HGNC HGNC:26285 - - 2 - - Ensembl - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 ENSG00000148735 Transcript ENST00000448805.1 protein_coding 2/4 - - - 196 198 66 A gcT/gcC rs3750901,COSV63054461 - 1 cds_start_NF HGNC HGNC:26285 - - 3 - - Ensembl - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 ENSG00000148735 Transcript ENST00000619563.5 protein_coding 9/11 - - - 1026 759 253 A gcT/gcC rs3750901,COSV63054461 - 1 - HGNC HGNC:26285 - - 5 - - Ensembl - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C downstream_gene_variant MODIFIER MIR4483 ENSG00000283656 Transcript ENST00000636551.1 miRNA - - - - - - - - - rs3750901,COSV63054461 2153 -1 - HGNC HGNC:41761 - - - - - Ensembl - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 ENSG00000148735 Transcript ENST00000694986.1 protein_coding 11/13 - - - 1164 1065 355 A gcT/gcC rs3750901,COSV63054461 - 1 - HGNC HGNC:26285 NM_001395068.1 - - P1 - Ensembl - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C non_coding_transcript_exon_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000694987.1 retained_intron 1/3 - - - 386 - - - - rs3750901,COSV63054461 - 1 - HGNC HGNC:26285 - - - - - Ensembl - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 79949 Transcript NM_001193434.2 protein_coding 11/13 - - - 1222 759 253 A gcT/gcC rs3750901,COSV63054461 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 79949 Transcript NM_001193435.2 protein_coding 9/11 - - - 1026 759 253 A gcT/gcC rs3750901,COSV63054461 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 79949 Transcript NM_001395068.1 protein_coding 11/13 - - - 1164 1065 355 A gcT/gcC rs3750901,COSV63054461 - 1 - EntrezGene HGNC:26285 ENST00000694986.1 - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 79949 Transcript NM_024889.5 protein_coding 11/12 - - - 1164 1065 355 A gcT/gcC rs3750901,COSV63054461 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 79949 Transcript NM_182601.2 protein_coding 10/12 - - - 1567 1005 335 A gcT/gcC rs3750901,COSV63054461 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C downstream_gene_variant MODIFIER MIR4483 100616162 Transcript NR_039703.1 miRNA - - - - - - - - - rs3750901,COSV63054461 2153 -1 - EntrezGene HGNC:41761 - - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 79949 Transcript XM_005270163.3 protein_coding 11/13 - - - 1122 1023 341 A gcT/gcC rs3750901,COSV63054461 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 79949 Transcript XM_011540171.2 protein_coding 11/13 - - - 1164 1065 355 A gcT/gcC rs3750901,COSV63054461 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 79949 Transcript XM_011540173.2 protein_coding 11/13 - - - 1122 1023 341 A gcT/gcC rs3750901,COSV63054461 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 79949 Transcript XM_011540174.3 protein_coding 10/12 - - - 954 855 285 A gcT/gcC rs3750901,COSV63054461 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 79949 Transcript XM_011540175.2 protein_coding 11/13 - - - 1264 801 267 A gcT/gcC rs3750901,COSV63054461 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C synonymous_variant LOW PLEKHS1 79949 Transcript XM_011540176.2 protein_coding 9/11 - - - 1068 801 267 A gcT/gcC rs3750901,COSV63054461 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C 3_prime_UTR_variant MODIFIER PLEKHS1 79949 Transcript XM_017016666.2 protein_coding 11/11 - - - 1355 - - - - rs3750901,COSV63054461 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113775840-113775840 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000416269 CTCF_binding_site - - - - - - - - - rs3750901,COSV63054461 - - - - - - - - - - - - - - - - - 0.2097 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G intron_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000361048.6 protein_coding - 11/11 - - - - - - - rs11196482,COSV63054469 - 1 - HGNC HGNC:26285 - - 2 - - Ensembl - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G intron_variant,non_coding_transcript_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000369309.5 protein_coding_CDS_not_defined - 6/6 - - - - - - - rs11196482,COSV63054469 - 1 - HGNC HGNC:26285 - - 5 - - Ensembl - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G downstream_gene_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000369310.7 protein_coding - - - - - - - - - rs11196482,COSV63054469 2826 1 - HGNC HGNC:26285 - - 1 - - Ensembl - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G intron_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000369312.9 protein_coding - 12/12 - - - - - - - rs11196482,COSV63054469 - 1 - HGNC HGNC:26285 - - 2 - - Ensembl - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G downstream_gene_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000448805.1 protein_coding - - - - - - - - - rs11196482,COSV63054469 2822 1 cds_start_NF HGNC HGNC:26285 - - 3 - - Ensembl - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G intron_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000619563.5 protein_coding - 10/10 - - - - - - - rs11196482,COSV63054469 - 1 - HGNC HGNC:26285 - - 5 - - Ensembl - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G upstream_gene_variant MODIFIER MIR4483 ENSG00000283656 Transcript ENST00000636551.1 miRNA - - - - - - - - - rs11196482,COSV63054469 2498 -1 - HGNC HGNC:41761 - - - - - Ensembl - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G intron_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000694986.1 protein_coding - 12/12 - - - - - - - rs11196482,COSV63054469 - 1 - HGNC HGNC:26285 NM_001395068.1 - - P1 - Ensembl - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G intron_variant,non_coding_transcript_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000694987.1 retained_intron - 2/2 - - - - - - - rs11196482,COSV63054469 - 1 - HGNC HGNC:26285 - - - - - Ensembl - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G intron_variant MODIFIER PLEKHS1 79949 Transcript NM_001193434.2 protein_coding - 12/12 - - - - - - - rs11196482,COSV63054469 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G intron_variant MODIFIER PLEKHS1 79949 Transcript NM_001193435.2 protein_coding - 10/10 - - - - - - - rs11196482,COSV63054469 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G intron_variant MODIFIER PLEKHS1 79949 Transcript NM_001395068.1 protein_coding - 12/12 - - - - - - - rs11196482,COSV63054469 - 1 - EntrezGene HGNC:26285 ENST00000694986.1 - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G intron_variant MODIFIER PLEKHS1 79949 Transcript NM_024889.5 protein_coding - 11/11 - - - - - - - rs11196482,COSV63054469 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript NM_182601.2 protein_coding - - - - - - - - - rs11196482,COSV63054469 2829 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G upstream_gene_variant MODIFIER MIR4483 100616162 Transcript NR_039703.1 miRNA - - - - - - - - - rs11196482,COSV63054469 2498 -1 - EntrezGene HGNC:41761 - - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G intron_variant MODIFIER PLEKHS1 79949 Transcript XM_005270163.3 protein_coding - 12/12 - - - - - - - rs11196482,COSV63054469 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript XM_011540171.2 protein_coding - - - - - - - - - rs11196482,COSV63054469 2829 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript XM_011540173.2 protein_coding - - - - - - - - - rs11196482,COSV63054469 2829 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript XM_011540174.3 protein_coding - - - - - - - - - rs11196482,COSV63054469 2829 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript XM_011540175.2 protein_coding - - - - - - - - - rs11196482,COSV63054469 2829 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript XM_011540176.2 protein_coding - - - - - - - - - rs11196482,COSV63054469 2829 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780552-113780552 G downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript XM_017016666.2 protein_coding - - - - - - - - - rs11196482,COSV63054469 4695 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3496 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C 3_prime_UTR_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000361048.6 protein_coding 12/12 - - - 1613 - - - - rs11196483,COSV63054105 - 1 - HGNC HGNC:26285 - - 2 - - Ensembl - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C non_coding_transcript_exon_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000369309.5 protein_coding_CDS_not_defined 7/7 - - - 753 - - - - rs11196483,COSV63054105 - 1 - HGNC HGNC:26285 - - 5 - - Ensembl - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C downstream_gene_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000369310.7 protein_coding - - - - - - - - - rs11196483,COSV63054105 2926 1 - HGNC HGNC:26285 - - 1 - - Ensembl - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C synonymous_variant LOW PLEKHS1 ENSG00000148735 Transcript ENST00000369312.9 protein_coding 13/13 - - - 1435 972 324 A gcT/gcC rs11196483,COSV63054105 - 1 - HGNC HGNC:26285 - - 2 - - Ensembl - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C downstream_gene_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000448805.1 protein_coding - - - - - - - - - rs11196483,COSV63054105 2922 1 cds_start_NF HGNC HGNC:26285 - - 3 - - Ensembl - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C synonymous_variant LOW PLEKHS1 ENSG00000148735 Transcript ENST00000619563.5 protein_coding 11/11 - - - 1239 972 324 A gcT/gcC rs11196483,COSV63054105 - 1 - HGNC HGNC:26285 - - 5 - - Ensembl - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C upstream_gene_variant MODIFIER MIR4483 ENSG00000283656 Transcript ENST00000636551.1 miRNA - - - - - - - - - rs11196483,COSV63054105 2598 -1 - HGNC HGNC:41761 - - - - - Ensembl - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C synonymous_variant LOW PLEKHS1 ENSG00000148735 Transcript ENST00000694986.1 protein_coding 13/13 - - - 1377 1278 426 A gcT/gcC rs11196483,COSV63054105 - 1 - HGNC HGNC:26285 NM_001395068.1 - - P1 - Ensembl - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C non_coding_transcript_exon_variant MODIFIER PLEKHS1 ENSG00000148735 Transcript ENST00000694987.1 retained_intron 3/3 - - - 599 - - - - rs11196483,COSV63054105 - 1 - HGNC HGNC:26285 - - - - - Ensembl - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C synonymous_variant LOW PLEKHS1 79949 Transcript NM_001193434.2 protein_coding 13/13 - - - 1435 972 324 A gcT/gcC rs11196483,COSV63054105 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C synonymous_variant LOW PLEKHS1 79949 Transcript NM_001193435.2 protein_coding 11/11 - - - 1239 972 324 A gcT/gcC rs11196483,COSV63054105 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C synonymous_variant LOW PLEKHS1 79949 Transcript NM_001395068.1 protein_coding 13/13 - - - 1377 1278 426 A gcT/gcC rs11196483,COSV63054105 - 1 - EntrezGene HGNC:26285 ENST00000694986.1 - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C 3_prime_UTR_variant MODIFIER PLEKHS1 79949 Transcript NM_024889.5 protein_coding 12/12 - - - 1241 - - - - rs11196483,COSV63054105 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript NM_182601.2 protein_coding - - - - - - - - - rs11196483,COSV63054105 2929 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C upstream_gene_variant MODIFIER MIR4483 100616162 Transcript NR_039703.1 miRNA - - - - - - - - - rs11196483,COSV63054105 2598 -1 - EntrezGene HGNC:41761 - - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C synonymous_variant LOW PLEKHS1 79949 Transcript XM_005270163.3 protein_coding 13/13 - - - 1335 1236 412 A gcT/gcC rs11196483,COSV63054105 - 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript XM_011540171.2 protein_coding - - - - - - - - - rs11196483,COSV63054105 2929 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript XM_011540173.2 protein_coding - - - - - - - - - rs11196483,COSV63054105 2929 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript XM_011540174.3 protein_coding - - - - - - - - - rs11196483,COSV63054105 2929 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript XM_011540175.2 protein_coding - - - - - - - - - rs11196483,COSV63054105 2929 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript XM_011540176.2 protein_coding - - - - - - - - - rs11196483,COSV63054105 2929 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C downstream_gene_variant MODIFIER PLEKHS1 79949 Transcript XM_017016666.2 protein_coding - - - - - - - - - rs11196483,COSV63054105 4795 1 - EntrezGene HGNC:26285 - - - - - RefSeq - T T - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113780652-113780652 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000261497 CTCF_binding_site - - - - - - - - - rs11196483,COSV63054105 - - - - - - - - - - - - - - - - - 0.3558 - 0,1 0,1 - - - - - - . 10:113850156-113850156 G missense_variant MODERATE DCLRE1A ENSG00000198924 Transcript ENST00000361384.7 protein_coding 2/9 - - - 1849 949 317 D/H Gat/Cat rs3750898 - -1 - HGNC HGNC:17660 NM_014881.5 - 1 P1 - Ensembl - C C - deleterious(0.01) possibly_damaging(0.788) 0.6577 - - - 16385451 - - - - - . 10:113850156-113850156 G upstream_gene_variant MODIFIER NHLRC2 ENSG00000196865 Transcript ENST00000369301.3 protein_coding - - - - - - - - - rs3750898 4505 1 - HGNC HGNC:24731 NM_198514.4 - 2 P1 - Ensembl - C C - - - 0.6577 - - - 16385451 - - - - - . 10:113850156-113850156 G missense_variant MODERATE DCLRE1A ENSG00000198924 Transcript ENST00000369305.1 protein_coding 3/10 - - - 1644 949 317 D/H Gat/Cat rs3750898 - -1 - HGNC HGNC:17660 - - 5 P1 - Ensembl - C C - deleterious(0.01) possibly_damaging(0.788) 0.6577 - - - 16385451 - - - - - . 10:113850156-113850156 G upstream_gene_variant MODIFIER NHLRC2 ENSG00000196865 Transcript ENST00000468890.1 retained_intron - - - - - - - - - rs3750898 4668 1 - HGNC HGNC:24731 - - 2 - - Ensembl - C C - - - 0.6577 - - - 16385451 - - - - - . 10:113850156-113850156 G downstream_gene_variant MODIFIER DCLRE1A ENSG00000198924 Transcript ENST00000476112.1 protein_coding_CDS_not_defined - - - - - - - - - rs3750898 3087 -1 - HGNC HGNC:17660 - - 3 - - Ensembl - C C - - - 0.6577 - - - 16385451 - - - - - . 10:113850156-113850156 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288933 Transcript ENST00000692647.1 lncRNA - 1/1 - - - - - - - rs3750898 - 1 - - - - - - - - Ensembl - C C - - - 0.6577 - - - 16385451 - - - - - . 10:113850156-113850156 G downstream_gene_variant MODIFIER - ENSG00000288933 Transcript ENST00000702263.1 lncRNA - - - - - - - - - rs3750898 3816 1 - - - - - - - - Ensembl - C C - - - 0.6577 - - - 16385451 - - - - - . 10:113850156-113850156 G missense_variant MODERATE DCLRE1A 9937 Transcript NM_001271816.2 protein_coding 3/10 - - - 1655 949 317 D/H Gat/Cat rs3750898 - -1 - EntrezGene HGNC:17660 - - - - - RefSeq - C C - deleterious(0.01) possibly_damaging(0.788) 0.6577 - - - 16385451 - - - - - . 10:113850156-113850156 G missense_variant MODERATE DCLRE1A 9937 Transcript NM_014881.5 protein_coding 2/9 - - - 1849 949 317 D/H Gat/Cat rs3750898 - -1 - EntrezGene HGNC:17660 ENST00000361384.7 - - - - RefSeq - C C - deleterious(0.01) possibly_damaging(0.788) 0.6577 - - - 16385451 - - - - - . 10:113850156-113850156 G upstream_gene_variant MODIFIER NHLRC2 374354 Transcript NM_198514.4 protein_coding - - - - - - - - - rs3750898 4505 1 - EntrezGene HGNC:24731 ENST00000369301.3 - - - - RefSeq - C C - - - 0.6577 - - - 16385451 - - - - - . 10:113850156-113850156 G missense_variant MODERATE DCLRE1A 9937 Transcript XM_006718090.2 protein_coding 3/10 - - - 1855 949 317 D/H Gat/Cat rs3750898 - -1 - EntrezGene HGNC:17660 - - - - - RefSeq - C C - deleterious(0.01) possibly_damaging(0.788) 0.6577 - - - 16385451 - - - - - . 10:113850156-113850156 G upstream_gene_variant MODIFIER NHLRC2 374354 Transcript XM_011539769.4 protein_coding - - - - - - - - - rs3750898 4505 1 - EntrezGene HGNC:24731 - - - - - RefSeq - C C - - - 0.6577 - - - 16385451 - - - - - . 10:113850156-113850156 G missense_variant MODERATE DCLRE1A 9937 Transcript XM_011540429.2 protein_coding 3/10 - - - 1770 949 317 D/H Gat/Cat rs3750898 - -1 - EntrezGene HGNC:17660 - - - - - RefSeq - C C - deleterious(0.01) possibly_damaging(0.788) 0.6577 - - - 16385451 - - - - - . 10:114151152-114151152 A synonymous_variant LOW CCDC186 ENSG00000165813 Transcript ENST00000369287.8 protein_coding 4/16 - - - 1078 828 276 D gaC/gaT rs117694485 - -1 - HGNC HGNC:24349 NM_018017.4 - 1 P1 - Ensembl - G G - - - 0.0024 - - - - - - - - - . 10:114151152-114151152 A synonymous_variant LOW CCDC186 ENSG00000165813 Transcript ENST00000648613.1 protein_coding 5/17 - - - 1232 828 276 D gaC/gaT rs117694485 - -1 - HGNC HGNC:24349 - - - P1 - Ensembl - G G - - - 0.0024 - - - - - - - - - . 10:114151152-114151152 A synonymous_variant LOW CCDC186 55088 Transcript NM_001321829.1 protein_coding 5/17 - - - 1220 828 276 D gaC/gaT rs117694485 - -1 - EntrezGene HGNC:24349 - - - - - RefSeq - G G OK - - 0.0024 - - - - - - - - - . 10:114151152-114151152 A synonymous_variant LOW CCDC186 55088 Transcript NM_018017.4 protein_coding 4/16 - - - 1078 828 276 D gaC/gaT rs117694485 - -1 - EntrezGene HGNC:24349 ENST00000369287.8 - - - - RefSeq - G G - - - 0.0024 - - - - - - - - - . 10:114151152-114151152 A non_coding_transcript_exon_variant MODIFIER CCDC186 55088 Transcript NR_135815.1 misc_RNA 5/16 - - - 1220 - - - - rs117694485 - -1 - EntrezGene HGNC:24349 - - - - - RefSeq - G G OK - - 0.0024 - - - - - - - - - . 10:114151152-114151152 A synonymous_variant LOW CCDC186 55088 Transcript XM_011539915.4 protein_coding 3/15 - - - 402 87 29 D gaC/gaT rs117694485 - -1 - EntrezGene HGNC:24349 - - - - - RefSeq - G G - - - 0.0024 - - - - - - - - - . 10:114151152-114151152 A synonymous_variant LOW CCDC186 55088 Transcript XM_011539916.4 protein_coding 3/10 - - - 889 828 276 D gaC/gaT rs117694485 - -1 - EntrezGene HGNC:24349 - - - - - RefSeq - G G - - - 0.0024 - - - - - - - - - . 10:114151152-114151152 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001181643 enhancer - - - - - - - - - rs117694485 - - - - - - - - - - - - - - - - - 0.0024 - - - - - - - - - . 10:114690317-114690317 A non_coding_transcript_exon_variant MODIFIER PPIAP19 ENSG00000228169 Transcript ENST00000486414.1 processed_pseudogene 1/1 - - - 318 - - - - rs530635226 - -1 - HGNC HGNC:31663 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 ENSG00000099204 Transcript ENST00000651092.1 protein_coding - 1/15 - - - - - - - rs530635226 - -1 cds_end_NF HGNC HGNC:78 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript NM_001322884.3 protein_coding - 1/21 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript NM_001322885.3 protein_coding - 1/21 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript NM_001322886.3 protein_coding - 1/21 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_017016245.2 protein_coding - 1/24 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_017016247.2 protein_coding - 3/24 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_017016250.2 protein_coding - 1/23 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_017016255.2 protein_coding - 1/22 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_024448010.2 protein_coding - 3/26 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_024448011.2 protein_coding - 3/25 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_047425229.1 protein_coding - 3/25 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_047425231.1 protein_coding - 3/24 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_047425232.1 protein_coding - 3/24 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_047425234.1 protein_coding - 3/24 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_047425236.1 protein_coding - 3/24 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_047425237.1 protein_coding - 3/23 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_047425238.1 protein_coding - 3/23 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_047425239.1 protein_coding - 3/23 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_047425240.1 protein_coding - 3/23 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_047425242.1 protein_coding - 3/22 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_047425244.1 protein_coding - 3/16 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:114690317-114690317 A intron_variant MODIFIER ABLIM1 3983 Transcript XM_047425245.1 protein_coding - 3/15 - - - - - - - rs530635226 - -1 - EntrezGene HGNC:78 - - - - - RefSeq - G G - - - - - - - - - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 ENSG00000107518 Transcript ENST00000355044.8 protein_coding 18/29 - - - 3352 2966 989 S/N aGt/aAt rs1953758 - 1 - HGNC HGNC:29063 NM_207303.4 - 1 P1 - Ensembl - G G - tolerated_low_confidence(0.5) benign(0) 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 ENSG00000107518 Transcript ENST00000526373.1 protein_coding 3/6 - - - 354 356 119 S/N aGt/aAt rs1953758 - 1 cds_start_NF,cds_end_NF HGNC HGNC:29063 - - 5 - - Ensembl - G G - tolerated_low_confidence(0.74) benign(0) 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A non_coding_transcript_exon_variant MODIFIER ATRNL1 ENSG00000107518 Transcript ENST00000534530.5 protein_coding_CDS_not_defined 2/6 - - - 219 - - - - rs1953758 - 1 - HGNC HGNC:29063 - - 4 - - Ensembl - G G - - - 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant,NMD_transcript_variant MODERATE ATRNL1 ENSG00000107518 Transcript ENST00000650603.1 nonsense_mediated_decay 18/30 - - - 2858 2858 953 S/N aGt/aAt rs1953758 - 1 cds_start_NF HGNC HGNC:29063 - - - - - Ensembl - G G - tolerated_low_confidence(0.47) benign(0.001) 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 26033 Transcript NM_207303.4 protein_coding 18/29 - - - 3352 2966 989 S/N aGt/aAt rs1953758 - 1 - EntrezGene HGNC:29063 ENST00000355044.8 - - - - RefSeq - G G - tolerated_low_confidence(0.5) benign(0) 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 26033 Transcript XM_011539587.2 protein_coding 18/28 - - - 3352 2966 989 S/N aGt/aAt rs1953758 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - G G - - - 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 26033 Transcript XM_011539588.3 protein_coding 18/29 - - - 2945 2765 922 S/N aGt/aAt rs1953758 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - G G - - - 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 26033 Transcript XM_011539589.3 protein_coding 18/28 - - - 3352 2966 989 S/N aGt/aAt rs1953758 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - G G - - - 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 26033 Transcript XM_011539591.3 protein_coding 18/29 - - - 2801 2528 843 S/N aGt/aAt rs1953758 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - G G - - - 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 26033 Transcript XM_017016035.3 protein_coding 18/29 - - - 3352 2966 989 S/N aGt/aAt rs1953758 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - G G - - - 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 26033 Transcript XM_017016036.2 protein_coding 18/22 - - - 3352 2966 989 S/N aGt/aAt rs1953758 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - G G - - - 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 26033 Transcript XM_017016039.3 protein_coding 10/21 - - - 1514 1370 457 S/N aGt/aAt rs1953758 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - G G - - - 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 26033 Transcript XM_017016040.2 protein_coding 7/18 - - - 1036 1031 344 S/N aGt/aAt rs1953758 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - G G - - - 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 26033 Transcript XM_047424988.1 protein_coding 18/21 - - - 3352 2966 989 S/N aGt/aAt rs1953758 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - G G - - - 0.9690 benign - 1 16385451 - - - - - . 10:115315665-115315665 A missense_variant MODERATE ATRNL1 26033 Transcript XM_047424989.1 protein_coding 12/23 - - - 1796 1685 562 S/N aGt/aAt rs1953758 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - G G - - - 0.9690 benign - 1 16385451 - - - - - . 10:115469284-115469284 G synonymous_variant LOW ATRNL1 ENSG00000107518 Transcript ENST00000355044.8 protein_coding 24/29 - - - 3995 3609 1203 T acA/acG rs10885721,COSV58089662 - 1 - HGNC HGNC:29063 NM_207303.4 - 1 P1 - Ensembl - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:115469284-115469284 G non_coding_transcript_exon_variant MODIFIER ATRNL1 ENSG00000107518 Transcript ENST00000424738.1 protein_coding_CDS_not_defined 2/5 - - - 192 - - - - rs10885721,COSV58089662 - 1 - HGNC HGNC:29063 - - 3 - - Ensembl - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:115469284-115469284 G intron_variant,non_coding_transcript_variant MODIFIER ATRNL1 ENSG00000107518 Transcript ENST00000534530.5 protein_coding_CDS_not_defined - 4/5 - - - - - - - rs10885721,COSV58089662 - 1 - HGNC HGNC:29063 - - 4 - - Ensembl - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:115469284-115469284 G synonymous_variant,NMD_transcript_variant LOW ATRNL1 ENSG00000107518 Transcript ENST00000650603.1 nonsense_mediated_decay 24/30 - - - 3501 3501 1167 T acA/acG rs10885721,COSV58089662 - 1 cds_start_NF HGNC HGNC:29063 - - - - - Ensembl - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:115469284-115469284 G synonymous_variant LOW ATRNL1 26033 Transcript NM_207303.4 protein_coding 24/29 - - - 3995 3609 1203 T acA/acG rs10885721,COSV58089662 - 1 - EntrezGene HGNC:29063 ENST00000355044.8 - - - - RefSeq - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:115469284-115469284 G synonymous_variant LOW ATRNL1 26033 Transcript XM_011539587.2 protein_coding 23/28 - - - 3857 3471 1157 T acA/acG rs10885721,COSV58089662 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:115469284-115469284 G synonymous_variant LOW ATRNL1 26033 Transcript XM_011539588.3 protein_coding 24/29 - - - 3588 3408 1136 T acA/acG rs10885721,COSV58089662 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:115469284-115469284 G synonymous_variant LOW ATRNL1 26033 Transcript XM_011539589.3 protein_coding 24/28 - - - 3995 3609 1203 T acA/acG rs10885721,COSV58089662 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:115469284-115469284 G synonymous_variant LOW ATRNL1 26033 Transcript XM_011539591.3 protein_coding 24/29 - - - 3444 3171 1057 T acA/acG rs10885721,COSV58089662 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:115469284-115469284 G synonymous_variant LOW ATRNL1 26033 Transcript XM_017016035.3 protein_coding 24/29 - - - 3995 3609 1203 T acA/acG rs10885721,COSV58089662 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:115469284-115469284 G synonymous_variant LOW ATRNL1 26033 Transcript XM_017016039.3 protein_coding 16/21 - - - 2157 2013 671 T acA/acG rs10885721,COSV58089662 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:115469284-115469284 G synonymous_variant LOW ATRNL1 26033 Transcript XM_017016040.2 protein_coding 13/18 - - - 1679 1674 558 T acA/acG rs10885721,COSV58089662 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:115469284-115469284 G synonymous_variant LOW ATRNL1 26033 Transcript XM_047424989.1 protein_coding 18/23 - - - 2439 2328 776 T acA/acG rs10885721,COSV58089662 - 1 - EntrezGene HGNC:29063 - - - - - RefSeq - A A - - - 0.3444 benign 0,1 1,1 24447899 - - - - - . 10:116592393-116592393 C intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000358834.9 protein_coding - 3/12 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 NM_006229.4 - 1 P2 - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000470678.6 retained_intron - 3/3 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 - - 2 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000471549.5 protein_coding - 2/3 - - - - - - - rs1867991,COSV62610786 - 1 cds_end_NF HGNC HGNC:9156 - - 2 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000480870.2 protein_coding_CDS_not_defined - 2/3 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 - - 3 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000482159.5 retained_intron - 3/3 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 - - 2 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C upstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000482833.1 nonsense_mediated_decay - - - - - - - - - rs1867991,COSV62610786 2337 1 cds_start_NF HGNC HGNC:9156 - - 5 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000484402.6 retained_intron - 3/4 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 - - 2 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant,NMD_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000497792.6 nonsense_mediated_decay - 3/5 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 - - 5 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C upstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000510125.1 protein_coding_CDS_not_defined - - - - - - - - - rs1867991,COSV62610786 293 1 - HGNC HGNC:9156 - - 3 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000525157.5 protein_coding_CDS_not_defined - 3/4 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 - - 4 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000525820.5 retained_intron - 3/11 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000526223.5 retained_intron - 3/11 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000527980.5 protein_coding - 2/5 - - - - - - - rs1867991,COSV62610786 - 1 cds_end_NF HGNC HGNC:9156 - - 3 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000528052.5 protein_coding - 3/12 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 - - 2 P2 - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000529584.5 retained_intron - 3/4 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 - - 2 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000530319.5 protein_coding - 3/5 - - - - - - - rs1867991,COSV62610786 - 1 cds_end_NF HGNC HGNC:9156 - - 3 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000530626.5 retained_intron - - - - - - - - - rs1867991,COSV62610786 251 1 - HGNC HGNC:9156 - - 3 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000531825.5 retained_intron - 3/11 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000531984.5 protein_coding - 3/5 - - - - - - - rs1867991,COSV62610786 - 1 cds_end_NF HGNC HGNC:9156 - - 5 - - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000534537.5 protein_coding - 2/11 - - - - - - - rs1867991,COSV62610786 - 1 - HGNC HGNC:9156 - - 5 A1 - Ensembl - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant MODIFIER PNLIPRP1 5407 Transcript NM_001303135.1 protein_coding - 3/12 - - - - - - - rs1867991,COSV62610786 - 1 - EntrezGene HGNC:9156 - - - - - RefSeq - A A OK - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant MODIFIER PNLIPRP1 5407 Transcript NM_006229.4 protein_coding - 3/12 - - - - - - - rs1867991,COSV62610786 - 1 - EntrezGene HGNC:9156 ENST00000358834.9 - - - - RefSeq - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116592393-116592393 C intron_variant MODIFIER PNLIPRP1 5407 Transcript XM_047425364.1 protein_coding - 3/8 - - - - - - - rs1867991,COSV62610786 - 1 - EntrezGene HGNC:9156 - - - - - RefSeq - A A - - - 0.6384 - 0,1 0,1 16642439,16400611 - - - - - . 10:116597978-116597978 T intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000358834.9 protein_coding - 7/12 - - - - - - - rs2915764 - 1 - HGNC HGNC:9156 NM_006229.4 - 1 P2 - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000471549.5 protein_coding - - - - - - - - - rs2915764 3184 1 cds_end_NF HGNC HGNC:9156 - - 2 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000480870.2 protein_coding_CDS_not_defined - - - - - - - - - rs2915764 3479 1 - HGNC HGNC:9156 - - 3 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000482159.5 retained_intron - - - - - - - - - rs2915764 4790 1 - HGNC HGNC:9156 - - 2 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T intron_variant,NMD_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000482833.1 nonsense_mediated_decay - 3/7 - - - - - - - rs2915764 - 1 cds_start_NF HGNC HGNC:9156 - - 5 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000484402.6 retained_intron - - - - - - - - - rs2915764 2781 1 - HGNC HGNC:9156 - - 2 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000497792.6 nonsense_mediated_decay - - - - - - - - - rs2915764 1656 1 - HGNC HGNC:9156 - - 5 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000510125.1 protein_coding_CDS_not_defined - - - - - - - - - rs2915764 4066 1 - HGNC HGNC:9156 - - 3 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000525157.5 protein_coding_CDS_not_defined - - - - - - - - - rs2915764 3628 1 - HGNC HGNC:9156 - - 4 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000525820.5 retained_intron - 6/11 - - - - - - - rs2915764 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000526223.5 retained_intron - 6/11 - - - - - - - rs2915764 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000527980.5 protein_coding - 5/5 - - - - - - - rs2915764 - 1 cds_end_NF HGNC HGNC:9156 - - 3 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000528052.5 protein_coding - 7/12 - - - - - - - rs2915764 - 1 - HGNC HGNC:9156 - - 2 P2 - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000529584.5 retained_intron - - - - - - - - - rs2915764 2758 1 - HGNC HGNC:9156 - - 2 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000530319.5 protein_coding - - - - - - - - - rs2915764 33 1 cds_end_NF HGNC HGNC:9156 - - 3 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000531825.5 retained_intron - 6/11 - - - - - - - rs2915764 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000531984.5 protein_coding - - - - - - - - - rs2915764 1656 1 cds_end_NF HGNC HGNC:9156 - - 5 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T upstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000534513.1 retained_intron - - - - - - - - - rs2915764 91 1 - HGNC HGNC:9156 - - 2 - - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000534537.5 protein_coding - 6/11 - - - - - - - rs2915764 - 1 - HGNC HGNC:9156 - - 5 A1 - Ensembl - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T intron_variant MODIFIER PNLIPRP1 5407 Transcript NM_001303135.1 protein_coding - 7/12 - - - - - - - rs2915764 - 1 - EntrezGene HGNC:9156 - - - - - RefSeq - C C OK - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T intron_variant MODIFIER PNLIPRP1 5407 Transcript NM_006229.4 protein_coding - 7/12 - - - - - - - rs2915764 - 1 - EntrezGene HGNC:9156 ENST00000358834.9 - - - - RefSeq - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T intron_variant MODIFIER PNLIPRP1 5407 Transcript XM_047425364.1 protein_coding - 7/8 - - - - - - - rs2915764 - 1 - EntrezGene HGNC:9156 - - - - - RefSeq - C C - - - 0.9433 - - - - - - - - - . 10:116597978-116597978 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000416889 CTCF_binding_site - - - - - - - - - rs2915764 - - - - - - - - - - - - - - - - - 0.9433 - - - - - - - - - . 10:116600036-116600036 C splice_polypyrimidine_tract_variant,intron_variant LOW PNLIPRP1 ENSG00000187021 Transcript ENST00000358834.9 protein_coding - 8/12 - - - - - - - rs3816355 - 1 - HGNC HGNC:9156 NM_006229.4 - 1 P2 - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C intron_variant,NMD_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000482833.1 nonsense_mediated_decay - 4/7 - - - - - - - rs3816355 - 1 cds_start_NF HGNC HGNC:9156 - - 5 - - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000484402.6 retained_intron - - - - - - - - - rs3816355 4839 1 - HGNC HGNC:9156 - - 2 - - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000497792.6 nonsense_mediated_decay - - - - - - - - - rs3816355 3714 1 - HGNC HGNC:9156 - - 5 - - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW PNLIPRP1 ENSG00000187021 Transcript ENST00000525820.5 retained_intron - 7/11 - - - - - - - rs3816355 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW PNLIPRP1 ENSG00000187021 Transcript ENST00000526223.5 retained_intron - 7/11 - - - - - - - rs3816355 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000527980.5 protein_coding - - - - - - - - - rs3816355 1974 1 cds_end_NF HGNC HGNC:9156 - - 3 - - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C splice_polypyrimidine_tract_variant,intron_variant LOW PNLIPRP1 ENSG00000187021 Transcript ENST00000528052.5 protein_coding - 8/12 - - - - - - - rs3816355 - 1 - HGNC HGNC:9156 - - 2 P2 - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000529584.5 retained_intron - - - - - - - - - rs3816355 4816 1 - HGNC HGNC:9156 - - 2 - - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000530319.5 protein_coding - - - - - - - - - rs3816355 2091 1 cds_end_NF HGNC HGNC:9156 - - 3 - - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW PNLIPRP1 ENSG00000187021 Transcript ENST00000531825.5 retained_intron - 7/11 - - - - - - - rs3816355 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000531984.5 protein_coding - - - - - - - - - rs3816355 3714 1 cds_end_NF HGNC HGNC:9156 - - 5 - - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW PNLIPRP1 ENSG00000187021 Transcript ENST00000534513.1 retained_intron - 1/1 - - - - - - - rs3816355 - 1 - HGNC HGNC:9156 - - 2 - - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C splice_polypyrimidine_tract_variant,intron_variant LOW PNLIPRP1 ENSG00000187021 Transcript ENST00000534537.5 protein_coding - 7/11 - - - - - - - rs3816355 - 1 - HGNC HGNC:9156 - - 5 A1 - Ensembl - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C splice_polypyrimidine_tract_variant,intron_variant LOW PNLIPRP1 5407 Transcript NM_001303135.1 protein_coding - 8/12 - - - - - - - rs3816355 - 1 - EntrezGene HGNC:9156 - - - - - RefSeq - T T OK - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C splice_polypyrimidine_tract_variant,intron_variant LOW PNLIPRP1 5407 Transcript NM_006229.4 protein_coding - 8/12 - - - - - - - rs3816355 - 1 - EntrezGene HGNC:9156 ENST00000358834.9 - - - - RefSeq - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116600036-116600036 C splice_polypyrimidine_tract_variant,intron_variant LOW PNLIPRP1 5407 Transcript XM_047425364.1 protein_coding - 8/8 - - - - - - - rs3816355 - 1 - EntrezGene HGNC:9156 - - - - - RefSeq - T T - - - 0.6440 - - 1 34282934 - - - - - . 10:116605330-116605330 G intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000358834.9 protein_coding - 11/12 - - - - - - - rs2915753,COSV62612447 - 1 - HGNC HGNC:9156 NM_006229.4 - 1 P2 - Ensembl - A A - - - 0.5809 - 0,1 0,1 - - - - - - . 10:116605330-116605330 G intron_variant,NMD_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000482833.1 nonsense_mediated_decay - 6/7 - - - - - - - rs2915753,COSV62612447 - 1 cds_start_NF HGNC HGNC:9156 - - 5 - - Ensembl - A A - - - 0.5809 - 0,1 0,1 - - - - - - . 10:116605330-116605330 G intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000525820.5 retained_intron - 10/11 - - - - - - - rs2915753,COSV62612447 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - A A - - - 0.5809 - 0,1 0,1 - - - - - - . 10:116605330-116605330 G intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000526223.5 retained_intron - 10/11 - - - - - - - rs2915753,COSV62612447 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - A A - - - 0.5809 - 0,1 0,1 - - - - - - . 10:116605330-116605330 G intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000528052.5 protein_coding - 11/12 - - - - - - - rs2915753,COSV62612447 - 1 - HGNC HGNC:9156 - - 2 P2 - Ensembl - A A - - - 0.5809 - 0,1 0,1 - - - - - - . 10:116605330-116605330 G intron_variant,non_coding_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000531825.5 retained_intron - 10/11 - - - - - - - rs2915753,COSV62612447 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - A A - - - 0.5809 - 0,1 0,1 - - - - - - . 10:116605330-116605330 G downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000534513.1 retained_intron - - - - - - - - - rs2915753,COSV62612447 4814 1 - HGNC HGNC:9156 - - 2 - - Ensembl - A A - - - 0.5809 - 0,1 0,1 - - - - - - . 10:116605330-116605330 G intron_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000534537.5 protein_coding - 10/11 - - - - - - - rs2915753,COSV62612447 - 1 - HGNC HGNC:9156 - - 5 A1 - Ensembl - A A - - - 0.5809 - 0,1 0,1 - - - - - - . 10:116605330-116605330 G intron_variant MODIFIER PNLIPRP1 5407 Transcript NM_001303135.1 protein_coding - 11/12 - - - - - - - rs2915753,COSV62612447 - 1 - EntrezGene HGNC:9156 - - - - - RefSeq - A A OK - - 0.5809 - 0,1 0,1 - - - - - - . 10:116605330-116605330 G intron_variant MODIFIER PNLIPRP1 5407 Transcript NM_006229.4 protein_coding - 11/12 - - - - - - - rs2915753,COSV62612447 - 1 - EntrezGene HGNC:9156 ENST00000358834.9 - - - - RefSeq - A A - - - 0.5809 - 0,1 0,1 - - - - - - . 10:116605330-116605330 G non_coding_transcript_exon_variant MODIFIER LOC124902510 124902510 Transcript XR_007062299.1 lncRNA 2/2 - - - 2057 - - - - rs2915753,COSV62612447 - -1 - EntrezGene - - - - - - RefSeq - A A - - - 0.5809 - 0,1 0,1 - - - - - - . 10:116605455-116605455 C missense_variant MODERATE PNLIPRP1 ENSG00000187021 Transcript ENST00000358834.9 protein_coding 12/13 - - - 1279 1242 414 E/D gaG/gaC rs2305204,COSV62610794 - 1 - HGNC HGNC:9156 NM_006229.4 - 1 P2 - Ensembl - G G - tolerated(0.12) benign(0.005) 0.1254 - 0,1 0,1 16385451,26018448 - - - - - . 10:116605455-116605455 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000482833.1 nonsense_mediated_decay 7/8 - - - 793 - - - - rs2305204,COSV62610794 - 1 cds_start_NF HGNC HGNC:9156 - - 5 - - Ensembl - G G - - - 0.1254 - 0,1 0,1 16385451,26018448 - - - - - . 10:116605455-116605455 C non_coding_transcript_exon_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000525820.5 retained_intron 11/12 - - - 3038 - - - - rs2305204,COSV62610794 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - G G - - - 0.1254 - 0,1 0,1 16385451,26018448 - - - - - . 10:116605455-116605455 C non_coding_transcript_exon_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000526223.5 retained_intron 11/12 - - - 3194 - - - - rs2305204,COSV62610794 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - G G - - - 0.1254 - 0,1 0,1 16385451,26018448 - - - - - . 10:116605455-116605455 C missense_variant MODERATE PNLIPRP1 ENSG00000187021 Transcript ENST00000528052.5 protein_coding 12/13 - - - 1313 1242 414 E/D gaG/gaC rs2305204,COSV62610794 - 1 - HGNC HGNC:9156 - - 2 P2 - Ensembl - G G - tolerated(0.12) benign(0.005) 0.1254 - 0,1 0,1 16385451,26018448 - - - - - . 10:116605455-116605455 C non_coding_transcript_exon_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000531825.5 retained_intron 11/12 - - - 3190 - - - - rs2305204,COSV62610794 - 1 - HGNC HGNC:9156 - - 1 - - Ensembl - G G - - - 0.1254 - 0,1 0,1 16385451,26018448 - - - - - . 10:116605455-116605455 C downstream_gene_variant MODIFIER PNLIPRP1 ENSG00000187021 Transcript ENST00000534513.1 retained_intron - - - - - - - - - rs2305204,COSV62610794 4939 1 - HGNC HGNC:9156 - - 2 - - Ensembl - G G - - - 0.1254 - 0,1 0,1 16385451,26018448 - - - - - . 10:116605455-116605455 C missense_variant MODERATE PNLIPRP1 ENSG00000187021 Transcript ENST00000534537.5 protein_coding 11/12 - - - 1242 1242 414 E/D gaG/gaC rs2305204,COSV62610794 - 1 - HGNC HGNC:9156 - - 5 A1 - Ensembl - G G - tolerated(0.12) benign(0.005) 0.1254 - 0,1 0,1 16385451,26018448 - - - - - . 10:116605455-116605455 C missense_variant MODERATE PNLIPRP1 5407 Transcript NM_001303135.1 protein_coding 12/13 - - - 1269 1242 414 E/D gaG/gaC rs2305204,COSV62610794 - 1 - EntrezGene HGNC:9156 - - - - - RefSeq - G G OK tolerated(0.12) benign(0.005) 0.1254 - 0,1 0,1 16385451,26018448 - - - - - . 10:116605455-116605455 C missense_variant MODERATE PNLIPRP1 5407 Transcript NM_006229.4 protein_coding 12/13 - - - 1279 1242 414 E/D gaG/gaC rs2305204,COSV62610794 - 1 - EntrezGene HGNC:9156 ENST00000358834.9 - - - - RefSeq - G G - tolerated(0.12) benign(0.005) 0.1254 - 0,1 0,1 16385451,26018448 - - - - - . 10:116605455-116605455 C non_coding_transcript_exon_variant MODIFIER LOC124902510 124902510 Transcript XR_007062299.1 lncRNA 2/2 - - - 1932 - - - - rs2305204,COSV62610794 - -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.1254 - 0,1 0,1 16385451,26018448 - - - - - . 10:116860948-116860948 C synonymous_variant LOW ENO4 ENSG00000188316 Transcript ENST00000341276.11 protein_coding 5/14 - - - 857 789 263 L ctA/ctC rs11197835,COSV58004000 - 1 - HGNC HGNC:31670 NM_001242699.2 - 5 P1 - Ensembl - A A - - - 0.2396 - 0,1 0,1 - - - - - - . 10:116860948-116860948 C synonymous_variant LOW ENO4 ENSG00000188316 Transcript ENST00000369207.3 protein_coding 2/11 - - - 260 261 87 L ctA/ctC rs11197835,COSV58004000 - 1 cds_start_NF HGNC HGNC:31670 - - 5 - - Ensembl - A A - - - 0.2396 - 0,1 0,1 - - - - - - . 10:116860948-116860948 C intron_variant MODIFIER ENO4 ENSG00000188316 Transcript ENST00000409522.5 protein_coding - 1/6 - - - - - - - rs11197835,COSV58004000 - 1 - HGNC HGNC:31670 - - 1 - - Ensembl - A A - - - 0.2396 - 0,1 0,1 - - - - - - . 10:116860948-116860948 C synonymous_variant LOW ENO4 ENSG00000188316 Transcript ENST00000622726.4 protein_coding 6/16 - - - 847 792 264 L ctA/ctC rs11197835,COSV58004000 - 1 - HGNC HGNC:31670 - - 5 - - Ensembl - A A - - - 0.2396 - 0,1 0,1 - - - - - - . 10:116860948-116860948 C synonymous_variant LOW ENO4 387712 Transcript NM_001242699.2 protein_coding 5/14 - - - 857 789 263 L ctA/ctC rs11197835,COSV58004000 - 1 - EntrezGene HGNC:31670 ENST00000341276.11 - - - - RefSeq - A A - - - 0.2396 - 0,1 0,1 - - - - - - . 10:116860948-116860948 C synonymous_variant LOW ENO4 387712 Transcript XM_005269815.4 protein_coding 5/10 - - - 857 789 263 L ctA/ctC rs11197835,COSV58004000 - 1 - EntrezGene HGNC:31670 - - - - - RefSeq - A A - - - 0.2396 - 0,1 0,1 - - - - - - . 10:116860948-116860948 C synonymous_variant LOW ENO4 387712 Transcript XM_006717835.4 protein_coding 5/14 - - - 857 789 263 L ctA/ctC rs11197835,COSV58004000 - 1 - EntrezGene HGNC:31670 - - - - - RefSeq - A A - - - 0.2396 - 0,1 0,1 - - - - - - . 10:116860948-116860948 C synonymous_variant LOW ENO4 387712 Transcript XM_011539797.4 protein_coding 5/13 - - - 857 789 263 L ctA/ctC rs11197835,COSV58004000 - 1 - EntrezGene HGNC:31670 - - - - - RefSeq - A A - - - 0.2396 - 0,1 0,1 - - - - - - . 10:116860948-116860948 C synonymous_variant LOW ENO4 387712 Transcript XM_047425228.1 protein_coding 4/13 - - - 728 660 220 L ctA/ctC rs11197835,COSV58004000 - 1 - EntrezGene HGNC:31670 - - - - - RefSeq - A A - - - 0.2396 - 0,1 0,1 - - - - - - . 10:116874037-116874037 G intron_variant MODIFIER ENO4 ENSG00000188316 Transcript ENST00000341276.11 protein_coding - 9/13 - - - - - - - rs1637574 - 1 - HGNC HGNC:31670 NM_001242699.2 - 5 P1 - Ensembl - A A - - - 0.9990 - - - - - - - - - . 10:116874037-116874037 G intron_variant MODIFIER ENO4 ENSG00000188316 Transcript ENST00000369207.3 protein_coding - 6/10 - - - - - - - rs1637574 - 1 cds_start_NF HGNC HGNC:31670 - - 5 - - Ensembl - A A - - - 0.9990 - - - - - - - - - . 10:116874037-116874037 G intron_variant MODIFIER ENO4 ENSG00000188316 Transcript ENST00000409522.5 protein_coding - 3/6 - - - - - - - rs1637574 - 1 - HGNC HGNC:31670 - - 1 - - Ensembl - A A - - - 0.9990 - - - - - - - - - . 10:116874037-116874037 G intron_variant MODIFIER ENO4 ENSG00000188316 Transcript ENST00000622726.4 protein_coding - 11/15 - - - - - - - rs1637574 - 1 - HGNC HGNC:31670 - - 5 - - Ensembl - A A - - - 0.9990 - - - - - - - - - . 10:116874037-116874037 G intron_variant MODIFIER ENO4 387712 Transcript NM_001242699.2 protein_coding - 9/13 - - - - - - - rs1637574 - 1 - EntrezGene HGNC:31670 ENST00000341276.11 - - - - RefSeq - A A - - - 0.9990 - - - - - - - - - . 10:116874037-116874037 G 3_prime_UTR_variant MODIFIER ENO4 387712 Transcript XM_005269815.4 protein_coding 10/10 - - - 1493 - - - - rs1637574 - 1 - EntrezGene HGNC:31670 - - - - - RefSeq - A A - - - 0.9990 - - - - - - - - - . 10:116874037-116874037 G intron_variant MODIFIER ENO4 387712 Transcript XM_006717835.4 protein_coding - 9/13 - - - - - - - rs1637574 - 1 - EntrezGene HGNC:31670 - - - - - RefSeq - A A - - - 0.9990 - - - - - - - - - . 10:116874037-116874037 G intron_variant MODIFIER ENO4 387712 Transcript XM_011539797.4 protein_coding - 9/12 - - - - - - - rs1637574 - 1 - EntrezGene HGNC:31670 - - - - - RefSeq - A A - - - 0.9990 - - - - - - - - - . 10:116874037-116874037 G intron_variant MODIFIER ENO4 387712 Transcript XM_047425228.1 protein_coding - 8/12 - - - - - - - rs1637574 - 1 - EntrezGene HGNC:31670 - - - - - RefSeq - A A - - - 0.9990 - - - - - - - - - . 10:116874037-116874037 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000950511 enhancer - - - - - - - - - rs1637574 - - - - - - - - - - - - - - - - - 0.9990 - - - - - - - - - . 10:116886618-116886618 C intron_variant MODIFIER SHTN1 ENSG00000187164 Transcript ENST00000260777.14 protein_coding - 15/15 - - - - - - - rs2531685 - -1 - HGNC HGNC:29319 - - 2 - - Ensembl - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C downstream_gene_variant MODIFIER ENO4 ENSG00000188316 Transcript ENST00000341276.11 protein_coding - - - - - - - - - rs2531685 4017 1 - HGNC HGNC:31670 NM_001242699.2 - 5 P1 - Ensembl - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C intron_variant MODIFIER SHTN1 ENSG00000187164 Transcript ENST00000355371.9 protein_coding - 16/16 - - - - - - - rs2531685 - -1 - HGNC HGNC:29319 NM_001127211.3 - 2 P1 - Ensembl - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C intron_variant MODIFIER ENO4 ENSG00000188316 Transcript ENST00000369207.3 protein_coding - 10/10 - - - - - - - rs2531685 - 1 cds_start_NF HGNC HGNC:31670 - - 5 - - Ensembl - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C downstream_gene_variant MODIFIER ENO4 ENSG00000188316 Transcript ENST00000409522.5 protein_coding - - - - - - - - - rs2531685 4091 1 - HGNC HGNC:31670 - - 1 - - Ensembl - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C intron_variant,non_coding_transcript_variant MODIFIER SHTN1 ENSG00000187164 Transcript ENST00000497044.5 protein_coding_CDS_not_defined - 15/15 - - - - - - - rs2531685 - -1 - HGNC HGNC:29319 - - 2 - - Ensembl - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C intron_variant MODIFIER SHTN1 ENSG00000187164 Transcript ENST00000615301.4 protein_coding - 14/14 - - - - - - - rs2531685 - -1 - HGNC HGNC:29319 - - 1 - - Ensembl - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C downstream_gene_variant MODIFIER ENO4 ENSG00000188316 Transcript ENST00000622726.4 protein_coding - - - - - - - - - rs2531685 4017 1 - HGNC HGNC:31670 - - 5 - - Ensembl - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C intron_variant MODIFIER SHTN1 57698 Transcript NM_001127211.3 protein_coding - 16/16 - - - - - - - rs2531685 - -1 - EntrezGene HGNC:29319 ENST00000355371.9 - - - - RefSeq - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C downstream_gene_variant MODIFIER ENO4 387712 Transcript NM_001242699.2 protein_coding - - - - - - - - - rs2531685 4017 1 - EntrezGene HGNC:31670 ENST00000341276.11 - - - - RefSeq - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C intron_variant MODIFIER SHTN1 57698 Transcript NM_001258298.2 protein_coding - 15/15 - - - - - - - rs2531685 - -1 - EntrezGene HGNC:29319 - - - - - RefSeq - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C intron_variant MODIFIER SHTN1 57698 Transcript NM_018330.7 protein_coding - 14/14 - - - - - - - rs2531685 - -1 - EntrezGene HGNC:29319 - - - - - RefSeq - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C intron_variant MODIFIER ENO4 387712 Transcript XM_006717835.4 protein_coding - 13/13 - - - - - - - rs2531685 - 1 - EntrezGene HGNC:31670 - - - - - RefSeq - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C downstream_gene_variant MODIFIER ENO4 387712 Transcript XM_011539797.4 protein_coding - - - - - - - - - rs2531685 4017 1 - EntrezGene HGNC:31670 - - - - - RefSeq - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C downstream_gene_variant MODIFIER ENO4 387712 Transcript XM_047425228.1 protein_coding - - - - - - - - - rs2531685 4017 1 - EntrezGene HGNC:31670 - - - - - RefSeq - G G - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116886618-116886618 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000416957 enhancer - - - - - - - - - rs2531685 - - - - - - - - - - - - - - - - - 0.5066 - - 1 16385451,35164939 - - - - - . 10:116907835-116907835 C intron_variant MODIFIER SHTN1 ENSG00000187164 Transcript ENST00000260777.14 protein_coding - 13/15 - - - - - - - rs2531690,COSV53379455 - -1 - HGNC HGNC:29319 - - 2 - - Ensembl - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C intron_variant MODIFIER SHTN1 ENSG00000187164 Transcript ENST00000355371.9 protein_coding - 14/16 - - - - - - - rs2531690,COSV53379455 - -1 - HGNC HGNC:29319 NM_001127211.3 - 2 P1 - Ensembl - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C intron_variant MODIFIER ENO4 ENSG00000188316 Transcript ENST00000369207.3 protein_coding - 10/10 - - - - - - - rs2531690,COSV53379455 - 1 cds_start_NF HGNC HGNC:31670 - - 5 - - Ensembl - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C intron_variant MODIFIER SHTN1 ENSG00000187164 Transcript ENST00000392901.10 protein_coding - 15/17 - - - - - - - rs2531690,COSV53379455 - -1 - HGNC HGNC:29319 - - 2 - - Ensembl - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C intron_variant MODIFIER SHTN1 ENSG00000187164 Transcript ENST00000392903.3 protein_coding - 14/16 - - - - - - - rs2531690,COSV53379455 - -1 - HGNC HGNC:29319 - - 1 - - Ensembl - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C intron_variant,non_coding_transcript_variant MODIFIER SHTN1 ENSG00000187164 Transcript ENST00000497044.5 protein_coding_CDS_not_defined - 13/15 - - - - - - - rs2531690,COSV53379455 - -1 - HGNC HGNC:29319 - - 2 - - Ensembl - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C intron_variant MODIFIER SHTN1 ENSG00000187164 Transcript ENST00000615301.4 protein_coding - 14/14 - - - - - - - rs2531690,COSV53379455 - -1 - HGNC HGNC:29319 - - 1 - - Ensembl - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C intron_variant MODIFIER SHTN1 57698 Transcript NM_001127211.3 protein_coding - 14/16 - - - - - - - rs2531690,COSV53379455 - -1 - EntrezGene HGNC:29319 ENST00000355371.9 - - - - RefSeq - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C intron_variant MODIFIER SHTN1 57698 Transcript NM_001258298.2 protein_coding - 13/15 - - - - - - - rs2531690,COSV53379455 - -1 - EntrezGene HGNC:29319 - - - - - RefSeq - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C intron_variant MODIFIER SHTN1 57698 Transcript NM_001258299.2 protein_coding - 14/16 - - - - - - - rs2531690,COSV53379455 - -1 - EntrezGene HGNC:29319 - - - - - RefSeq - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C intron_variant MODIFIER SHTN1 57698 Transcript NM_001258300.1 protein_coding - 15/17 - - - - - - - rs2531690,COSV53379455 - -1 - EntrezGene HGNC:29319 - - - - - RefSeq - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C intron_variant MODIFIER SHTN1 57698 Transcript NM_018330.7 protein_coding - 14/14 - - - - - - - rs2531690,COSV53379455 - -1 - EntrezGene HGNC:29319 - - - - - RefSeq - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C intron_variant MODIFIER ENO4 387712 Transcript XM_006717835.4 protein_coding - 13/13 - - - - - - - rs2531690,COSV53379455 - 1 - EntrezGene HGNC:31670 - - - - - RefSeq - A A - - - 0.4503 - 0,1 0,1 - - - - - - . 10:116907835-116907835 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000416960 open_chromatin_region - - - - - - - - - rs2531690,COSV53379455 - - - - - - - - - - - - - - - - - 0.4503 - 0,1 0,1 - - - - - - . 10:117266890-117266890 C intron_variant,non_coding_transcript_variant MODIFIER SLC18A2 ENSG00000165646 Transcript ENST00000497497.1 retained_intron - 10/14 - - - - - - - rs363266 - 1 - HGNC HGNC:10935 - - 2 - - Ensembl - T T - - - 0.9880 benign - 1 - - - - - - . 10:117266890-117266890 C downstream_gene_variant MODIFIER - ENSG00000277879 Transcript ENST00000614747.1 lncRNA - - - - - - - - - rs363266 226 -1 - - - - - - - - Ensembl - T T - - - 0.9880 benign - 1 - - - - - - . 10:117266890-117266890 C intron_variant MODIFIER SLC18A2 ENSG00000165646 Transcript ENST00000644641.2 protein_coding - 11/15 - - - - - - - rs363266 - 1 - HGNC HGNC:10935 NM_003054.6 - - P1 - Ensembl - T T - - - 0.9880 benign - 1 - - - - - - . 10:117266890-117266890 C intron_variant MODIFIER SLC18A2 6571 Transcript NM_003054.6 protein_coding - 11/15 - - - - - - - rs363266 - 1 - EntrezGene HGNC:10935 ENST00000644641.2 - - - - RefSeq - T T - - - 0.9880 benign - 1 - - - - - - . 10:118009040-118009040 T synonymous_variant LOW RAB11FIP2 ENSG00000107560 Transcript ENST00000355624.8 protein_coding 5/5 - - - 2275 1497 499 P ccG/ccA rs7923321,COSV62925130 - -1 - HGNC HGNC:29152 NM_014904.3 - 1 P1 - Ensembl - C C - - - 0.7875 - 0,1 0,1 - - - - - - . 10:118009040-118009040 T synonymous_variant LOW RAB11FIP2 ENSG00000107560 Transcript ENST00000369199.5 protein_coding 6/6 - - - 1986 1557 519 P ccG/ccA rs7923321,COSV62925130 - -1 - HGNC HGNC:29152 - - 1 - - Ensembl - C C - - - 0.7875 - 0,1 0,1 - - - - - - . 10:118009040-118009040 T intron_variant,non_coding_transcript_variant MODIFIER RAB11FIP2 ENSG00000107560 Transcript ENST00000476207.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs7923321,COSV62925130 - -1 - HGNC HGNC:29152 - - 5 - - Ensembl - C C - - - 0.7875 - 0,1 0,1 - - - - - - . 10:118009040-118009040 T synonymous_variant LOW RAB11FIP2 22841 Transcript NM_001330167.2 protein_coding 6/6 - - - 2335 1557 519 P ccG/ccA rs7923321,COSV62925130 - -1 - EntrezGene HGNC:29152 - - - - - RefSeq - C C - - - 0.7875 - 0,1 0,1 - - - - - - . 10:118009040-118009040 T synonymous_variant LOW RAB11FIP2 22841 Transcript NM_014904.3 protein_coding 5/5 - - - 2275 1497 499 P ccG/ccA rs7923321,COSV62925130 - -1 - EntrezGene HGNC:29152 ENST00000355624.8 - - - - RefSeq - C C - - - 0.7875 - 0,1 0,1 - - - - - - . 10:118872056-118872056 C non_coding_transcript_exon_variant MODIFIER RPL17P36 ENSG00000236058 Transcript ENST00000420302.1 processed_pseudogene 1/1 - - - 547 - - - - - - -1 - HGNC HGNC:36051 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:118872056-118872056 C intron_variant,non_coding_transcript_variant MODIFIER LINC03036 ENSG00000229272 Transcript ENST00000663084.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:56220 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:118872126-118872126 G non_coding_transcript_exon_variant MODIFIER RPL17P36 ENSG00000236058 Transcript ENST00000420302.1 processed_pseudogene 1/1 - - - 477 - - - - - - -1 - HGNC HGNC:36051 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:118872126-118872126 G intron_variant,non_coding_transcript_variant MODIFIER LINC03036 ENSG00000229272 Transcript ENST00000663084.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:56220 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:118872216-118872216 A non_coding_transcript_exon_variant MODIFIER RPL17P36 ENSG00000236058 Transcript ENST00000420302.1 processed_pseudogene 1/1 - - - 387 - - - - - - -1 - HGNC HGNC:36051 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:118872216-118872216 A intron_variant,non_coding_transcript_variant MODIFIER LINC03036 ENSG00000229272 Transcript ENST00000663084.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:56220 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:118872240-118872240 C non_coding_transcript_exon_variant MODIFIER RPL17P36 ENSG00000236058 Transcript ENST00000420302.1 processed_pseudogene 1/1 - - - 363 - - - - - - -1 - HGNC HGNC:36051 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:118872240-118872240 C intron_variant,non_coding_transcript_variant MODIFIER LINC03036 ENSG00000229272 Transcript ENST00000663084.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:56220 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:118872256-118872256 A non_coding_transcript_exon_variant MODIFIER RPL17P36 ENSG00000236058 Transcript ENST00000420302.1 processed_pseudogene 1/1 - - - 347 - - - - - - -1 - HGNC HGNC:36051 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:118872256-118872256 A intron_variant,non_coding_transcript_variant MODIFIER LINC03036 ENSG00000229272 Transcript ENST00000663084.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:56220 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:118872312-118872312 T non_coding_transcript_exon_variant MODIFIER RPL17P36 ENSG00000236058 Transcript ENST00000420302.1 processed_pseudogene 1/1 - - - 291 - - - - rs903884092 - -1 - HGNC HGNC:36051 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:118872312-118872312 T intron_variant,non_coding_transcript_variant MODIFIER LINC03036 ENSG00000229272 Transcript ENST00000663084.1 lncRNA - 2/3 - - - - - - - rs903884092 - -1 - HGNC HGNC:56220 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:118872393-118872393 C non_coding_transcript_exon_variant MODIFIER RPL17P36 ENSG00000236058 Transcript ENST00000420302.1 processed_pseudogene 1/1 - - - 210 - - - - - - -1 - HGNC HGNC:36051 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:118872393-118872393 C intron_variant,non_coding_transcript_variant MODIFIER LINC03036 ENSG00000229272 Transcript ENST00000663084.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:56220 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:118872402-118872402 C non_coding_transcript_exon_variant MODIFIER RPL17P36 ENSG00000236058 Transcript ENST00000420302.1 processed_pseudogene 1/1 - - - 201 - - - - - - -1 - HGNC HGNC:36051 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:118872402-118872402 C intron_variant,non_coding_transcript_variant MODIFIER LINC03036 ENSG00000229272 Transcript ENST00000663084.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:56220 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:118872422-118872422 C non_coding_transcript_exon_variant MODIFIER RPL17P36 ENSG00000236058 Transcript ENST00000420302.1 processed_pseudogene 1/1 - - - 181 - - - - - - -1 - HGNC HGNC:36051 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:118872422-118872422 C intron_variant,non_coding_transcript_variant MODIFIER LINC03036 ENSG00000229272 Transcript ENST00000663084.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:56220 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:118872562-118872562 G non_coding_transcript_exon_variant MODIFIER RPL17P36 ENSG00000236058 Transcript ENST00000420302.1 processed_pseudogene 1/1 - - - 41 - - - - - - -1 - HGNC HGNC:36051 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:118872562-118872562 G intron_variant,non_coding_transcript_variant MODIFIER LINC03036 ENSG00000229272 Transcript ENST00000663084.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:56220 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:118932535-118932535 G downstream_gene_variant MODIFIER LDHAP5 ENSG00000213574 Transcript ENST00000394996.2 processed_pseudogene - - - - - - - - - - 139 -1 - HGNC HGNC:6540 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:118932535-118932535 G intron_variant,non_coding_transcript_variant MODIFIER LINC03036 ENSG00000229272 Transcript ENST00000663084.1 lncRNA - 2/3 - - - - - - - - - -1 - HGNC HGNC:56220 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:118932535-118932535 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001181907 open_chromatin_region - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:119057938-119057938 G intron_variant MODIFIER EIF3A ENSG00000107581 Transcript ENST00000369144.8 protein_coding - 12/21 - - - - - - - rs10886375 - -1 - HGNC HGNC:3271 NM_003750.4 - 1 P1 - Ensembl - A A - - - 0.8127 - - - - - - - - - . 10:119057938-119057938 G downstream_gene_variant MODIFIER SNORA19 ENSG00000207468 Transcript ENST00000384737.1 snoRNA - - - - - - - - - rs10886375 2073 -1 - HGNC HGNC:32609 - - - - - Ensembl - A A - - - 0.8127 - - - - - - - - - . 10:119057938-119057938 G downstream_gene_variant MODIFIER - ENSG00000222588 Transcript ENST00000410656.1 snoRNA - - - - - - - - - rs10886375 3045 -1 - - - - - - - - Ensembl - A A - - - 0.8127 - - - - - - - - - . 10:119057938-119057938 G intron_variant,non_coding_transcript_variant MODIFIER EIF3A ENSG00000107581 Transcript ENST00000462527.2 retained_intron - 2/2 - - - - - - - rs10886375 - -1 - HGNC HGNC:3271 - - 2 - - Ensembl - A A - - - 0.8127 - - - - - - - - - . 10:119057938-119057938 G intron_variant MODIFIER EIF3A 8661 Transcript NM_003750.4 protein_coding - 12/21 - - - - - - - rs10886375 - -1 - EntrezGene HGNC:3271 ENST00000369144.8 - - - - RefSeq - A A - - - 0.8127 - - - - - - - - - . 10:119057938-119057938 G downstream_gene_variant MODIFIER SNORA19 641451 Transcript NR_002917.1 snoRNA - - - - - - - - - rs10886375 2073 -1 - EntrezGene HGNC:32609 - - - - - RefSeq - A A - - - 0.8127 - - - - - - - - - . 10:119057938-119057938 G downstream_gene_variant MODIFIER LOC124900296 124900296 Transcript XR_007062404.1 snoRNA - - - - - - - - - rs10886375 3045 -1 - EntrezGene - - - - - - RefSeq - A A - - - 0.8127 - - - - - - - - - . 10:119059941-119059941 G intron_variant MODIFIER EIF3A ENSG00000107581 Transcript ENST00000369144.8 protein_coding - 9/21 - - - - - - - rs10787901,COSV64960894 - -1 - HGNC HGNC:3271 NM_003750.4 - 1 P1 - Ensembl - A A - - - 0.6795 - 0,1 0,1 29559957 - - - - - . 10:119059941-119059941 G downstream_gene_variant MODIFIER SNORA19 ENSG00000207468 Transcript ENST00000384737.1 snoRNA - - - - - - - - - rs10787901,COSV64960894 70 -1 - HGNC HGNC:32609 - - - - - Ensembl - A A - - - 0.6795 - 0,1 0,1 29559957 - - - - - . 10:119059941-119059941 G downstream_gene_variant MODIFIER - ENSG00000222588 Transcript ENST00000410656.1 snoRNA - - - - - - - - - rs10787901,COSV64960894 1042 -1 - - - - - - - - Ensembl - A A - - - 0.6795 - 0,1 0,1 29559957 - - - - - . 10:119059941-119059941 G upstream_gene_variant MODIFIER EIF3A ENSG00000107581 Transcript ENST00000462527.2 retained_intron - - - - - - - - - rs10787901,COSV64960894 51 -1 - HGNC HGNC:3271 - - 2 - - Ensembl - A A - - - 0.6795 - 0,1 0,1 29559957 - - - - - . 10:119059941-119059941 G intron_variant MODIFIER EIF3A 8661 Transcript NM_003750.4 protein_coding - 9/21 - - - - - - - rs10787901,COSV64960894 - -1 - EntrezGene HGNC:3271 ENST00000369144.8 - - - - RefSeq - A A - - - 0.6795 - 0,1 0,1 29559957 - - - - - . 10:119059941-119059941 G downstream_gene_variant MODIFIER SNORA19 641451 Transcript NR_002917.1 snoRNA - - - - - - - - - rs10787901,COSV64960894 70 -1 - EntrezGene HGNC:32609 - - - - - RefSeq - A A - - - 0.6795 - 0,1 0,1 29559957 - - - - - . 10:119059941-119059941 G downstream_gene_variant MODIFIER LOC124900296 124900296 Transcript XR_007062404.1 snoRNA - - - - - - - - - rs10787901,COSV64960894 1042 -1 - EntrezGene - - - - - - RefSeq - A A - - - 0.6795 - 0,1 0,1 29559957 - - - - - . 10:119059946-119059946 C intron_variant MODIFIER EIF3A ENSG00000107581 Transcript ENST00000369144.8 protein_coding - 9/21 - - - - - - - rs10787902,COSV64960895 - -1 - HGNC HGNC:3271 NM_003750.4 - 1 P1 - Ensembl - T T - - - 0.6795 - 0,1 0,1 - - - - - - . 10:119059946-119059946 C downstream_gene_variant MODIFIER SNORA19 ENSG00000207468 Transcript ENST00000384737.1 snoRNA - - - - - - - - - rs10787902,COSV64960895 65 -1 - HGNC HGNC:32609 - - - - - Ensembl - T T - - - 0.6795 - 0,1 0,1 - - - - - - . 10:119059946-119059946 C downstream_gene_variant MODIFIER - ENSG00000222588 Transcript ENST00000410656.1 snoRNA - - - - - - - - - rs10787902,COSV64960895 1037 -1 - - - - - - - - Ensembl - T T - - - 0.6795 - 0,1 0,1 - - - - - - . 10:119059946-119059946 C upstream_gene_variant MODIFIER EIF3A ENSG00000107581 Transcript ENST00000462527.2 retained_intron - - - - - - - - - rs10787902,COSV64960895 56 -1 - HGNC HGNC:3271 - - 2 - - Ensembl - T T - - - 0.6795 - 0,1 0,1 - - - - - - . 10:119059946-119059946 C intron_variant MODIFIER EIF3A 8661 Transcript NM_003750.4 protein_coding - 9/21 - - - - - - - rs10787902,COSV64960895 - -1 - EntrezGene HGNC:3271 ENST00000369144.8 - - - - RefSeq - T T - - - 0.6795 - 0,1 0,1 - - - - - - . 10:119059946-119059946 C downstream_gene_variant MODIFIER SNORA19 641451 Transcript NR_002917.1 snoRNA - - - - - - - - - rs10787902,COSV64960895 65 -1 - EntrezGene HGNC:32609 - - - - - RefSeq - T T - - - 0.6795 - 0,1 0,1 - - - - - - . 10:119059946-119059946 C downstream_gene_variant MODIFIER LOC124900296 124900296 Transcript XR_007062404.1 snoRNA - - - - - - - - - rs10787902,COSV64960895 1037 -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.6795 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A downstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000355697.7 protein_coding - - - - - - - - - rs11198799,COSV57460350 4252 -1 - HGNC HGNC:16088 NM_213649.2 - 1 P1 - Ensembl - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A synonymous_variant LOW DENND10 ENSG00000119979 Transcript ENST00000361432.3 protein_coding 9/9 - - - 972 942 314 P ccG/ccA rs11198799,COSV57460350 - 1 - HGNC HGNC:31793 NM_207009.4 - 1 P1 - Ensembl - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A downstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000461438.5 protein_coding_CDS_not_defined - - - - - - - - - rs11198799,COSV57460350 4741 -1 - HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A downstream_gene_variant MODIFIER DENND10 ENSG00000119979 Transcript ENST00000462327.1 protein_coding_CDS_not_defined - - - - - - - - - rs11198799,COSV57460350 1335 1 - HGNC HGNC:31793 - - 5 - - Ensembl - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A downstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000484960.5 protein_coding_CDS_not_defined - - - - - - - - - rs11198799,COSV57460350 4398 -1 - HGNC HGNC:16088 - - 3 - - Ensembl - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A upstream_gene_variant MODIFIER DENND10 ENSG00000119979 Transcript ENST00000489936.1 protein_coding_CDS_not_defined - - - - - - - - - rs11198799,COSV57460350 2 1 - HGNC HGNC:31793 - - 2 - - Ensembl - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A non_coding_transcript_exon_variant MODIFIER DENND10 ENSG00000119979 Transcript ENST00000489988.5 protein_coding_CDS_not_defined 7/7 - - - 1117 - - - - rs11198799,COSV57460350 - 1 - HGNC HGNC:31793 - - 2 - - Ensembl - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A downstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000490417.6 retained_intron - - - - - - - - - rs11198799,COSV57460350 4252 -1 - HGNC HGNC:16088 - - 2 - - Ensembl - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A intron_variant,non_coding_transcript_variant MODIFIER DENND10 ENSG00000119979 Transcript ENST00000498549.2 protein_coding_CDS_not_defined - 4/4 - - - - - - - rs11198799,COSV57460350 - 1 - HGNC HGNC:31793 - - 3 - - Ensembl - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A synonymous_variant LOW DENND10 ENSG00000119979 Transcript ENST00000648560.1 protein_coding 12/12 - - - 1518 609 203 P ccG/ccA rs11198799,COSV57460350 - 1 - HGNC HGNC:31793 - - - - - Ensembl - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A synonymous_variant LOW DENND10 404636 Transcript NM_001303111.2 protein_coding 10/10 - - - 1177 918 306 P ccG/ccA rs11198799,COSV57460350 - 1 - EntrezGene HGNC:31793 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A synonymous_variant LOW DENND10 404636 Transcript NM_001303112.2 protein_coding 9/9 - - - 924 723 241 P ccG/ccA rs11198799,COSV57460350 - 1 - EntrezGene HGNC:31793 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A synonymous_variant LOW DENND10 404636 Transcript NM_001303113.2 protein_coding 8/8 - - - 843 489 163 P ccG/ccA rs11198799,COSV57460350 - 1 - EntrezGene HGNC:31793 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A synonymous_variant LOW DENND10 404636 Transcript NM_207009.4 protein_coding 9/9 - - - 972 942 314 P ccG/ccA rs11198799,COSV57460350 - 1 - EntrezGene HGNC:31793 ENST00000361432.3 - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A downstream_gene_variant MODIFIER SFXN4 119559 Transcript NM_213649.2 protein_coding - - - - - - - - - rs11198799,COSV57460350 4252 -1 - EntrezGene HGNC:16088 ENST00000355697.7 - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A downstream_gene_variant MODIFIER SFXN4 119559 Transcript NR_110305.1 misc_RNA - - - - - - - - - rs11198799,COSV57460350 4398 -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G OK - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A non_coding_transcript_exon_variant MODIFIER DENND10 404636 Transcript NR_130122.2 misc_RNA 8/8 - - - 860 - - - - rs11198799,COSV57460350 - 1 - EntrezGene HGNC:31793 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A downstream_gene_variant MODIFIER SFXN4 119559 Transcript XM_005269525.6 protein_coding - - - - - - - - - rs11198799,COSV57460350 4252 -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A downstream_gene_variant MODIFIER SFXN4 119559 Transcript XM_005269526.3 protein_coding - - - - - - - - - rs11198799,COSV57460350 4252 -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A synonymous_variant LOW DENND10 404636 Transcript XM_006717849.5 protein_coding 9/9 - - - 992 609 203 P ccG/ccA rs11198799,COSV57460350 - 1 - EntrezGene HGNC:31793 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A downstream_gene_variant MODIFIER SFXN4 119559 Transcript XM_011539282.3 protein_coding - - - - - - - - - rs11198799,COSV57460350 4252 -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A intron_variant MODIFIER DENND10 404636 Transcript XM_017016264.3 protein_coding - 8/8 - - - - - - - rs11198799,COSV57460350 - 1 - EntrezGene HGNC:31793 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A downstream_gene_variant MODIFIER SFXN4 119559 Transcript XM_047424585.1 protein_coding - - - - - - - - - rs11198799,COSV57460350 4252 -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A synonymous_variant LOW DENND10 404636 Transcript XM_047425249.1 protein_coding 10/10 - - - 1334 918 306 P ccG/ccA rs11198799,COSV57460350 - 1 - EntrezGene HGNC:31793 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A synonymous_variant LOW DENND10 404636 Transcript XM_047425250.1 protein_coding 9/9 - - - 1165 609 203 P ccG/ccA rs11198799,COSV57460350 - 1 - EntrezGene HGNC:31793 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A synonymous_variant LOW DENND10 404636 Transcript XM_047425251.1 protein_coding 9/9 - - - 1145 609 203 P ccG/ccA rs11198799,COSV57460350 - 1 - EntrezGene HGNC:31793 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119136515-119136515 A synonymous_variant LOW DENND10 404636 Transcript XM_047425252.1 protein_coding 9/9 - - - 1072 609 203 P ccG/ccA rs11198799,COSV57460350 - 1 - EntrezGene HGNC:31793 - - - - - RefSeq - G G - - - 0.9024 - 0,1 0,1 - - - - - - . 10:119155180-119155180 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 ENSG00000183605 Transcript ENST00000355697.7 protein_coding - 10/13 - - - - - - - rs17668734,COSV57459379 - -1 - HGNC HGNC:16088 NM_213649.2 - 1 P1 - Ensembl - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 ENSG00000183605 Transcript ENST00000369131.8 protein_coding - 10/12 - - - - - - - rs17668734,COSV57459379 - -1 cds_end_NF HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A downstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000419372.5 protein_coding - - - - - - - - - rs17668734,COSV57459379 2489 -1 cds_end_NF HGNC HGNC:16088 - - 2 - - Ensembl - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW SFXN4 ENSG00000183605 Transcript ENST00000461438.5 protein_coding_CDS_not_defined - 11/14 - - - - - - - rs17668734,COSV57459379 - -1 - HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A downstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000462913.1 protein_coding_CDS_not_defined - - - - - - - - - rs17668734,COSV57459379 2827 -1 - HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW SFXN4 ENSG00000183605 Transcript ENST00000466218.5 protein_coding_CDS_not_defined - 9/10 - - - - - - - rs17668734,COSV57459379 - -1 - HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A upstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000484960.5 protein_coding_CDS_not_defined - - - - - - - - - rs17668734,COSV57459379 57 -1 - HGNC HGNC:16088 - - 3 - - Ensembl - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW SFXN4 ENSG00000183605 Transcript ENST00000490417.6 retained_intron - 1/4 - - - - - - - rs17668734,COSV57459379 - -1 - HGNC HGNC:16088 - - 2 - - Ensembl - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 119559 Transcript NM_213649.2 protein_coding - 10/13 - - - - - - - rs17668734,COSV57459379 - -1 - EntrezGene HGNC:16088 ENST00000355697.7 - - - - RefSeq - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW SFXN4 119559 Transcript NR_110305.1 misc_RNA - 9/13 - - - - - - - rs17668734,COSV57459379 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G OK - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 119559 Transcript XM_005269525.6 protein_coding - 9/12 - - - - - - - rs17668734,COSV57459379 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 119559 Transcript XM_005269526.3 protein_coding - 10/13 - - - - - - - rs17668734,COSV57459379 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 119559 Transcript XM_011539282.3 protein_coding - 10/13 - - - - - - - rs17668734,COSV57459379 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 119559 Transcript XM_047424584.1 protein_coding - 10/13 - - - - - - - rs17668734,COSV57459379 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119155180-119155180 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 119559 Transcript XM_047424585.1 protein_coding - 9/12 - - - - - - - rs17668734,COSV57459379 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.2664 benign 0,1 1,1 28628558 - - - - - . 10:119157933-119157933 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 ENSG00000183605 Transcript ENST00000355697.7 protein_coding - 7/13 - - - - - - - rs2275111,COSV57460793 - -1 - HGNC HGNC:16088 NM_213649.2 - 1 P1 - Ensembl - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 ENSG00000183605 Transcript ENST00000369131.8 protein_coding - 7/12 - - - - - - - rs2275111,COSV57460793 - -1 cds_end_NF HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 ENSG00000183605 Transcript ENST00000419372.5 protein_coding - 6/7 - - - - - - - rs2275111,COSV57460793 - -1 cds_end_NF HGNC HGNC:16088 - - 2 - - Ensembl - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW SFXN4 ENSG00000183605 Transcript ENST00000461438.5 protein_coding_CDS_not_defined - 8/14 - - - - - - - rs2275111,COSV57460793 - -1 - HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A downstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000462913.1 protein_coding_CDS_not_defined - - - - - - - - - rs2275111,COSV57460793 74 -1 - HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW SFXN4 ENSG00000183605 Transcript ENST00000466218.5 protein_coding_CDS_not_defined - 6/10 - - - - - - - rs2275111,COSV57460793 - -1 - HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A upstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000484960.5 protein_coding_CDS_not_defined - - - - - - - - - rs2275111,COSV57460793 2810 -1 - HGNC HGNC:16088 - - 3 - - Ensembl - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A upstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000490417.6 retained_intron - - - - - - - - - rs2275111,COSV57460793 1177 -1 - HGNC HGNC:16088 - - 2 - - Ensembl - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 119559 Transcript NM_213649.2 protein_coding - 7/13 - - - - - - - rs2275111,COSV57460793 - -1 - EntrezGene HGNC:16088 ENST00000355697.7 - - - - RefSeq - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant LOW SFXN4 119559 Transcript NR_110305.1 misc_RNA - 6/13 - - - - - - - rs2275111,COSV57460793 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G OK - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 119559 Transcript XM_005269525.6 protein_coding - 6/12 - - - - - - - rs2275111,COSV57460793 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 119559 Transcript XM_005269526.3 protein_coding - 7/13 - - - - - - - rs2275111,COSV57460793 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 119559 Transcript XM_011539282.3 protein_coding - 7/13 - - - - - - - rs2275111,COSV57460793 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 119559 Transcript XM_047424584.1 protein_coding - 7/13 - - - - - - - rs2275111,COSV57460793 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119157933-119157933 A splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW SFXN4 119559 Transcript XM_047424585.1 protein_coding - 6/12 - - - - - - - rs2275111,COSV57460793 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.5100 benign 0,1 1,1 16385451,28195579 - - - - - . 10:119158104-119158104 A intron_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000355697.7 protein_coding - 6/13 - - - - - - - rs2275112,COSV57459383 - -1 - HGNC HGNC:16088 NM_213649.2 - 1 P1 - Ensembl - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A intron_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000369131.8 protein_coding - 6/12 - - - - - - - rs2275112,COSV57459383 - -1 cds_end_NF HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A intron_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000419372.5 protein_coding - 5/7 - - - - - - - rs2275112,COSV57459383 - -1 cds_end_NF HGNC HGNC:16088 - - 2 - - Ensembl - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A intron_variant,non_coding_transcript_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000461438.5 protein_coding_CDS_not_defined - 7/14 - - - - - - - rs2275112,COSV57459383 - -1 - HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A intron_variant,non_coding_transcript_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000462913.1 protein_coding_CDS_not_defined - 4/4 - - - - - - - rs2275112,COSV57459383 - -1 - HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A intron_variant,non_coding_transcript_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000466218.5 protein_coding_CDS_not_defined - 5/10 - - - - - - - rs2275112,COSV57459383 - -1 - HGNC HGNC:16088 - - 5 - - Ensembl - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A upstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000484960.5 protein_coding_CDS_not_defined - - - - - - - - - rs2275112,COSV57459383 2981 -1 - HGNC HGNC:16088 - - 3 - - Ensembl - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A upstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000490417.6 retained_intron - - - - - - - - - rs2275112,COSV57459383 1348 -1 - HGNC HGNC:16088 - - 2 - - Ensembl - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A intron_variant MODIFIER SFXN4 119559 Transcript NM_213649.2 protein_coding - 6/13 - - - - - - - rs2275112,COSV57459383 - -1 - EntrezGene HGNC:16088 ENST00000355697.7 - - - - RefSeq - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A intron_variant,non_coding_transcript_variant MODIFIER SFXN4 119559 Transcript NR_110305.1 misc_RNA - 5/13 - - - - - - - rs2275112,COSV57459383 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G OK - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A intron_variant MODIFIER SFXN4 119559 Transcript XM_005269525.6 protein_coding - 5/12 - - - - - - - rs2275112,COSV57459383 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A intron_variant MODIFIER SFXN4 119559 Transcript XM_005269526.3 protein_coding - 6/13 - - - - - - - rs2275112,COSV57459383 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A intron_variant MODIFIER SFXN4 119559 Transcript XM_011539282.3 protein_coding - 6/13 - - - - - - - rs2275112,COSV57459383 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A intron_variant MODIFIER SFXN4 119559 Transcript XM_047424584.1 protein_coding - 6/13 - - - - - - - rs2275112,COSV57459383 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119158104-119158104 A intron_variant MODIFIER SFXN4 119559 Transcript XM_047424585.1 protein_coding - 5/12 - - - - - - - rs2275112,COSV57459383 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - G G - - - 0.2670 benign 0,1 1,1 25732572 - - - - - . 10:119161076-119161076 C synonymous_variant LOW SFXN4 ENSG00000183605 Transcript ENST00000355697.7 protein_coding 4/14 - - - 325 258 86 Q caA/caG rs10749291,COSV57460017 - -1 - HGNC HGNC:16088 NM_213649.2 - 1 P1 - Ensembl - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C 5_prime_UTR_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000369131.8 protein_coding 4/13 - - - 509 - - - - rs10749291,COSV57460017 - -1 cds_end_NF HGNC HGNC:16088 - - 5 - - Ensembl - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C intron_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000419372.5 protein_coding - 3/7 - - - - - - - rs10749291,COSV57460017 - -1 cds_end_NF HGNC HGNC:16088 - - 2 - - Ensembl - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C non_coding_transcript_exon_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000461438.5 protein_coding_CDS_not_defined 5/15 - - - 287 - - - - rs10749291,COSV57460017 - -1 - HGNC HGNC:16088 - - 5 - - Ensembl - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C intron_variant,non_coding_transcript_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000462913.1 protein_coding_CDS_not_defined - 2/4 - - - - - - - rs10749291,COSV57460017 - -1 - HGNC HGNC:16088 - - 5 - - Ensembl - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C intron_variant,non_coding_transcript_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000466218.5 protein_coding_CDS_not_defined - 3/10 - - - - - - - rs10749291,COSV57460017 - -1 - HGNC HGNC:16088 - - 5 - - Ensembl - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C upstream_gene_variant MODIFIER SFXN4 ENSG00000183605 Transcript ENST00000490417.6 retained_intron - - - - - - - - - rs10749291,COSV57460017 4320 -1 - HGNC HGNC:16088 - - 2 - - Ensembl - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C synonymous_variant LOW SFXN4 119559 Transcript NM_213649.2 protein_coding 4/14 - - - 325 258 86 Q caA/caG rs10749291,COSV57460017 - -1 - EntrezGene HGNC:16088 ENST00000355697.7 - - - - RefSeq - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C intron_variant,non_coding_transcript_variant MODIFIER SFXN4 119559 Transcript NR_110305.1 misc_RNA - 3/13 - - - - - - - rs10749291,COSV57460017 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - T T OK - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C intron_variant MODIFIER SFXN4 119559 Transcript XM_005269525.6 protein_coding - 3/12 - - - - - - - rs10749291,COSV57460017 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C 5_prime_UTR_variant MODIFIER SFXN4 119559 Transcript XM_005269526.3 protein_coding 4/14 - - - 203 - - - - rs10749291,COSV57460017 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C 5_prime_UTR_variant MODIFIER SFXN4 119559 Transcript XM_011539282.3 protein_coding 4/14 - - - 336 - - - - rs10749291,COSV57460017 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C synonymous_variant LOW SFXN4 119559 Transcript XM_047424584.1 protein_coding 4/14 - - - 325 258 86 Q caA/caG rs10749291,COSV57460017 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119161076-119161076 C 5_prime_UTR_variant MODIFIER SFXN4 119559 Transcript XM_047424585.1 protein_coding 4/13 - - - 336 - - - - rs10749291,COSV57460017 - -1 - EntrezGene HGNC:16088 - - - - - RefSeq - T T - - - 0.4944 benign 0,1 1,1 - - - - - - . 10:119173812-119173812 A synonymous_variant LOW PRDX3 ENSG00000165672 Transcript ENST00000298510.4 protein_coding 4/7 - - - 394 372 124 D gaC/gaT rs3758609 - -1 - HGNC HGNC:9354 NM_006793.5 - 1 P1 - Ensembl - G G - - - 0.9533 - - - - - - - - - . 10:119173812-119173812 A non_coding_transcript_exon_variant MODIFIER PRDX3 ENSG00000165672 Transcript ENST00000463322.1 retained_intron 2/2 - - - 383 - - - - rs3758609 - -1 - HGNC HGNC:9354 - - 2 - - Ensembl - G G - - - 0.9533 - - - - - - - - - . 10:119173812-119173812 A upstream_gene_variant MODIFIER PRDX3 ENSG00000165672 Transcript ENST00000494433.1 retained_intron - - - - - - - - - rs3758609 2824 -1 - HGNC HGNC:9354 - - 1 - - Ensembl - G G - - - 0.9533 - - - - - - - - - . 10:119173812-119173812 A synonymous_variant LOW PRDX3 10935 Transcript NM_001302272.2 protein_coding 4/6 - - - 394 372 124 D gaC/gaT rs3758609 - -1 - EntrezGene HGNC:9354 - - - - - RefSeq - G G - - - 0.9533 - - - - - - - - - . 10:119173812-119173812 A synonymous_variant LOW PRDX3 10935 Transcript NM_006793.5 protein_coding 4/7 - - - 394 372 124 D gaC/gaT rs3758609 - -1 - EntrezGene HGNC:9354 ENST00000298510.4 - - - - RefSeq - G G - - - 0.9533 - - - - - - - - - . 10:119173812-119173812 A non_coding_transcript_exon_variant MODIFIER PRDX3 10935 Transcript NR_126102.2 misc_RNA 3/6 - - - 261 - - - - rs3758609 - -1 - EntrezGene HGNC:9354 - - - - - RefSeq - G G - - - 0.9533 - - - - - - - - - . 10:119173812-119173812 A non_coding_transcript_exon_variant MODIFIER PRDX3 10935 Transcript NR_126103.2 misc_RNA 2/5 - - - 119 - - - - rs3758609 - -1 - EntrezGene HGNC:9354 - - - - - RefSeq - G G - - - 0.9533 - - - - - - - - - . 10:119173812-119173812 A non_coding_transcript_exon_variant MODIFIER PRDX3 10935 Transcript NR_126105.2 misc_RNA 3/6 - - - 111 - - - - rs3758609 - -1 - EntrezGene HGNC:9354 - - - - - RefSeq - G G - - - 0.9533 - - - - - - - - - . 10:119173812-119173812 A intron_variant,non_coding_transcript_variant MODIFIER PRDX3 10935 Transcript NR_126106.2 misc_RNA - 2/3 - - - - - - - rs3758609 - -1 - EntrezGene HGNC:9354 - - - - - RefSeq - G G - - - 0.9533 - - - - - - - - - . 10:119676443-119676443 C intron_variant MODIFIER BAG3 ENSG00000151929 Transcript ENST00000369085.8 protein_coding - 3/3 - - - - - - - rs196294 - 1 - HGNC HGNC:939 NM_004281.4 - 1 P1 - Ensembl - A A - - - 0.6352 benign - 1 25741868 - - - - - . 10:119676443-119676443 C intron_variant MODIFIER BAG3 ENSG00000151929 Transcript ENST00000450186.1 protein_coding - 4/4 - - - - - - - rs196294 - 1 cds_end_NF HGNC HGNC:939 - - 5 - - Ensembl - A A - - - 0.6352 benign - 1 25741868 - - - - - . 10:119676443-119676443 C intron_variant MODIFIER BAG3 9531 Transcript NM_004281.4 protein_coding - 3/3 - - - - - - - rs196294 - 1 - EntrezGene HGNC:939 ENST00000369085.8 - - - - RefSeq - A A - - - 0.6352 benign - 1 25741868 - - - - - . 10:119676443-119676443 C intron_variant MODIFIER BAG3 9531 Transcript XM_005270287.2 protein_coding - 3/3 - - - - - - - rs196294 - 1 - EntrezGene HGNC:939 - - - - - RefSeq - A A - - - 0.6352 benign - 1 25741868 - - - - - . 10:119676443-119676443 C downstream_gene_variant MODIFIER LOC124902513 124902513 Transcript XR_007062312.1 lncRNA - - - - - - - - - rs196294 4707 -1 - EntrezGene - - - - - - RefSeq - A A - - - 0.6352 benign - 1 25741868 - - - - - . 10:119676556-119676556 G synonymous_variant LOW BAG3 ENSG00000151929 Transcript ENST00000369085.8 protein_coding 4/4 - - - 1298 1002 334 P ccT/ccG rs3858339,COSV64841630 - 1 - HGNC HGNC:939 NM_004281.4 - 1 P1 - Ensembl - T T - - - 0.1558 benign 0,1 1,1 25741868,24033266,23757202 - - - - - . 10:119676556-119676556 G synonymous_variant LOW BAG3 ENSG00000151929 Transcript ENST00000450186.1 protein_coding 5/5 - - - 995 825 275 P ccT/ccG rs3858339,COSV64841630 - 1 cds_end_NF HGNC HGNC:939 - - 5 - - Ensembl - T T - - - 0.1558 benign 0,1 1,1 25741868,24033266,23757202 - - - - - . 10:119676556-119676556 G synonymous_variant LOW BAG3 9531 Transcript NM_004281.4 protein_coding 4/4 - - - 1298 1002 334 P ccT/ccG rs3858339,COSV64841630 - 1 - EntrezGene HGNC:939 ENST00000369085.8 - - - - RefSeq - T T - - - 0.1558 benign 0,1 1,1 25741868,24033266,23757202 - - - - - . 10:119676556-119676556 G synonymous_variant LOW BAG3 9531 Transcript XM_005270287.2 protein_coding 4/4 - - - 1295 999 333 P ccT/ccG rs3858339,COSV64841630 - 1 - EntrezGene HGNC:939 - - - - - RefSeq - T T - - - 0.1558 benign 0,1 1,1 25741868,24033266,23757202 - - - - - . 10:119676556-119676556 G downstream_gene_variant MODIFIER LOC124902513 124902513 Transcript XR_007062312.1 lncRNA - - - - - - - - - rs3858339,COSV64841630 4594 -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.1558 benign 0,1 1,1 25741868,24033266,23757202 - - - - - . 10:119819528-119819528 C 5_prime_UTR_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000490818.1 protein_coding 1/5 - - - 22 - - - - rs17099318,COSV62820285 - 1 cds_end_NF HGNC HGNC:17054 - - 5 - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C upstream_gene_variant MODIFIER PHACTR2P1 ENSG00000270300 Transcript ENST00000605639.1 transcribed_processed_pseudogene - - - - - - - - - rs17099318,COSV62820285 2886 -1 - HGNC HGNC:49488 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C 5_prime_UTR_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000631485.1 protein_coding 2/7 - - - 68 - - - - rs17099318,COSV62820285 - 1 cds_end_NF HGNC HGNC:17054 - - 3 - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C 5_prime_UTR_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000631555.1 protein_coding 1/7 - - - 82 - - - - rs17099318,COSV62820285 - 1 cds_end_NF HGNC HGNC:17054 - - 4 - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C synonymous_variant LOW INPP5F ENSG00000198825 Transcript ENST00000631572.1 protein_coding 2/6 - - - 261 258 86 F ttT/ttC rs17099318,COSV62820285 - 1 cds_end_NF HGNC HGNC:17054 - - 5 - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C downstream_gene_variant MODIFIER - ENSG00000282413 Transcript ENST00000634073.1 processed_pseudogene - - - - - - - - - rs17099318,COSV62820285 395 1 - - - - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C upstream_gene_variant MODIFIER PHACTR2P1 ENSG00000270300 Transcript ENST00000636592.1 processed_transcript - - - - - - - - - rs17099318,COSV62820285 3570 -1 - HGNC HGNC:49488 - - 5 - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C synonymous_variant LOW INPP5F ENSG00000198825 Transcript ENST00000637174.1 protein_coding 1/7 - - - 233 45 15 F ttT/ttC rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 - - 5 - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000647699.1 protein_coding - 14/18 - - - - - - - rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000647933.1 nonsense_mediated_decay - 17/21 - - - - - - - rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000648262.1 protein_coding - 13/17 - - - - - - - rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000648515.1 nonsense_mediated_decay - 17/21 - - - - - - - rs17099318,COSV62820285 - 1 cds_start_NF HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000648621.1 nonsense_mediated_decay - 16/20 - - - - - - - rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000648661.1 nonsense_mediated_decay - 13/17 - - - - - - - rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000649251.1 protein_coding - 15/18 - - - - - - - rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000649297.1 nonsense_mediated_decay - 16/20 - - - - - - - rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000649454.1 protein_coding - 16/20 - - - - - - - rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000649742.1 nonsense_mediated_decay - 14/18 - - - - - - - rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000649957.1 protein_coding - 15/18 - - - - - - - rs17099318,COSV62820285 - 1 cds_end_NF HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000650305.1 nonsense_mediated_decay - 18/22 - - - - - - - rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C synonymous_variant LOW INPP5F ENSG00000198825 Transcript ENST00000650409.1 protein_coding 1/6 - - - 802 45 15 F ttT/ttC rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 - - - - - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000650623.2 protein_coding - 15/19 - - - - - - - rs17099318,COSV62820285 - 1 - HGNC HGNC:17054 NM_014937.4 - - P1 - Ensembl - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C synonymous_variant LOW INPP5F 22876 Transcript NM_001243194.2 protein_coding 1/6 - - - 260 45 15 F ttT/ttC rs17099318,COSV62820285 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F 22876 Transcript NM_014937.4 protein_coding - 15/19 - - - - - - - rs17099318,COSV62820285 - 1 - EntrezGene HGNC:17054 ENST00000650623.2 - - - - RefSeq - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C downstream_gene_variant MODIFIER INPP5F 22876 Transcript XM_006717720.5 protein_coding - - - - - - - - - rs17099318,COSV62820285 29 1 - EntrezGene HGNC:17054 - - - - - RefSeq - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F 22876 Transcript XM_011539527.4 protein_coding - 14/18 - - - - - - - rs17099318,COSV62820285 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F 22876 Transcript XM_011539528.4 protein_coding - 14/18 - - - - - - - rs17099318,COSV62820285 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F 22876 Transcript XM_011539529.3 protein_coding - 4/8 - - - - - - - rs17099318,COSV62820285 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F 22876 Transcript XM_047424834.1 protein_coding - 15/19 - - - - - - - rs17099318,COSV62820285 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F 22876 Transcript XM_047424836.1 protein_coding - 15/19 - - - - - - - rs17099318,COSV62820285 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F 22876 Transcript XM_047424837.1 protein_coding - 13/17 - - - - - - - rs17099318,COSV62820285 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C intron_variant MODIFIER INPP5F 22876 Transcript XM_047424838.1 protein_coding - 10/14 - - - - - - - rs17099318,COSV62820285 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C upstream_gene_variant MODIFIER LOC105378513 105378513 Transcript XR_946359.3 lncRNA - - - - - - - - - rs17099318,COSV62820285 1271 -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119819528-119819528 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000034347 promoter - - - - - - - - - rs17099318,COSV62820285 - - - - - - - - - - - - - - - - - 0.1120 - 0,1 0,1 - - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER MCMBP ENSG00000197771 Transcript ENST00000360003.7 protein_coding - - - - - - - - - rs3188055,COSV62820297 2034 -1 - HGNC HGNC:25782 - - 2 A1 - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER MCMBP ENSG00000197771 Transcript ENST00000369077.4 protein_coding - - - - - - - - - rs3188055,COSV62820297 2070 -1 - HGNC HGNC:25782 NM_001256378.2 - 1 P3 - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER MCMBP ENSG00000197771 Transcript ENST00000466047.5 protein_coding_CDS_not_defined - - - - - - - - - rs3188055,COSV62820297 3831 -1 - HGNC HGNC:25782 - - 2 - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000490818.1 protein_coding - - - - - - - - - rs3188055,COSV62820297 3473 1 cds_end_NF HGNC HGNC:17054 - - 5 - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000631485.1 protein_coding - - - - - - - - - rs3188055,COSV62820297 599 1 cds_end_NF HGNC HGNC:17054 - - 3 - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000631555.1 protein_coding - - - - - - - - - rs3188055,COSV62820297 668 1 cds_end_NF HGNC HGNC:17054 - - 4 - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000631572.1 protein_coding - - - - - - - - - rs3188055,COSV62820297 3551 1 cds_end_NF HGNC HGNC:17054 - - 5 - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G 3_prime_UTR_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000637174.1 protein_coding 7/7 - - - 1414 - - - - rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 - - 5 - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F ENSG00000198825 Transcript ENST00000647699.1 protein_coding 19/19 - - - 3091 2701 901 N/D Aat/Gat rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 - - - - - Ensembl - A A - tolerated_low_confidence(0.47) benign(0.011) 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000647933.1 nonsense_mediated_decay 22/22 - - - 3354 - - - - rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 - - - - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F ENSG00000198825 Transcript ENST00000648262.1 protein_coding 18/18 - - - 2820 2803 935 N/D Aat/Gat rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 - - - - - Ensembl - A A - tolerated_low_confidence(0.47) benign(0) 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000648515.1 nonsense_mediated_decay 22/22 - - - 3246 - - - - rs3188055,COSV62820297 - 1 cds_start_NF HGNC HGNC:17054 - - - - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000648621.1 nonsense_mediated_decay 21/21 - - - 3388 - - - - rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 - - - - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000648661.1 nonsense_mediated_decay 18/18 - - - 2778 - - - - rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 - - - - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G 3_prime_UTR_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000649251.1 protein_coding 19/19 - - - 3110 - - - - rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 - - - - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000649297.1 nonsense_mediated_decay 21/21 - - - 3247 - - - - rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 - - - - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F ENSG00000198825 Transcript ENST00000649454.1 protein_coding 21/21 - - - 3401 2701 901 N/D Aat/Gat rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 - - - - - Ensembl - A A - tolerated_low_confidence(0.47) benign(0.011) 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000649742.1 nonsense_mediated_decay 19/19 - - - 3113 - - - - rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 - - - - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000649957.1 protein_coding - - - - - - - - - rs3188055,COSV62820297 3489 1 cds_end_NF HGNC HGNC:17054 - - - - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER INPP5F ENSG00000198825 Transcript ENST00000650305.1 nonsense_mediated_decay 23/23 - - - 3593 - - - - rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 - - - - - Ensembl - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F ENSG00000198825 Transcript ENST00000650409.1 protein_coding 6/6 - - - 1916 1159 387 N/D Aat/Gat rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 - - - - - Ensembl - A A - tolerated_low_confidence(0.42) benign(0) 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F ENSG00000198825 Transcript ENST00000650623.2 protein_coding 20/20 - - - 3202 2989 997 N/D Aat/Gat rs3188055,COSV62820297 - 1 - HGNC HGNC:17054 NM_014937.4 - - P1 - Ensembl - A A - tolerated_low_confidence(0.47) benign(0.011) 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F 22876 Transcript NM_001243194.2 protein_coding 6/6 - - - 1374 1159 387 N/D Aat/Gat rs3188055,COSV62820297 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - A A - tolerated_low_confidence(0.42) benign(0) 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER MCMBP 79892 Transcript NM_001256378.2 protein_coding - - - - - - - - - rs3188055,COSV62820297 2070 -1 - EntrezGene HGNC:25782 ENST00000369077.4 - - - - RefSeq - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER MCMBP 79892 Transcript NM_001256379.2 protein_coding - - - - - - - - - rs3188055,COSV62820297 2070 -1 - EntrezGene HGNC:25782 - - - - - RefSeq - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F 22876 Transcript NM_014937.4 protein_coding 20/20 - - - 3202 2989 997 N/D Aat/Gat rs3188055,COSV62820297 - 1 - EntrezGene HGNC:17054 ENST00000650623.2 - - - - RefSeq - A A - tolerated_low_confidence(0.47) benign(0.011) 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER MCMBP 79892 Transcript NM_024834.4 protein_coding - - - - - - - - - rs3188055,COSV62820297 2070 -1 - EntrezGene HGNC:25782 - - - - - RefSeq - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER MCMBP 79892 Transcript XM_005270157.5 protein_coding - - - - - - - - - rs3188055,COSV62820297 2070 -1 - EntrezGene HGNC:25782 - - - - - RefSeq - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F 22876 Transcript XM_011539527.4 protein_coding 19/19 - - - 2976 2875 959 N/D Aat/Gat rs3188055,COSV62820297 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F 22876 Transcript XM_011539528.4 protein_coding 19/19 - - - 3095 2701 901 N/D Aat/Gat rs3188055,COSV62820297 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - A A - tolerated_low_confidence(0.47) benign(0.011) 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F 22876 Transcript XM_011539529.3 protein_coding 9/9 - - - 1618 1531 511 N/D Aat/Gat rs3188055,COSV62820297 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER MCMBP 79892 Transcript XM_011540170.2 protein_coding - - - - - - - - - rs3188055,COSV62820297 2070 -1 - EntrezGene HGNC:25782 - - - - - RefSeq - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G downstream_gene_variant MODIFIER MCMBP 79892 Transcript XM_017016663.2 protein_coding - - - - - - - - - rs3188055,COSV62820297 2070 -1 - EntrezGene HGNC:25782 - - - - - RefSeq - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F 22876 Transcript XM_047424834.1 protein_coding 20/20 - - - 4718 2701 901 N/D Aat/Gat rs3188055,COSV62820297 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - A A - tolerated_low_confidence(0.47) benign(0.011) 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F 22876 Transcript XM_047424836.1 protein_coding 20/20 - - - 2968 2701 901 N/D Aat/Gat rs3188055,COSV62820297 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - A A - tolerated_low_confidence(0.47) benign(0.011) 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F 22876 Transcript XM_047424837.1 protein_coding 18/18 - - - 2707 2485 829 N/D Aat/Gat rs3188055,COSV62820297 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119827370-119827370 G missense_variant MODERATE INPP5F 22876 Transcript XM_047424838.1 protein_coding 15/15 - - - 2352 2290 764 N/D Aat/Gat rs3188055,COSV62820297 - 1 - EntrezGene HGNC:17054 - - - - - RefSeq - A A - - - 0.2690 benign 0,1 1,1 21042416,28296976,32869539 - - - - - . 10:119919501-119919501 G missense_variant MODERATE SEC23IP ENSG00000107651 Transcript ENST00000369075.8 protein_coding 11/19 - - - 1983 1930 644 K/E Aaa/Gaa rs2475298,COSV64832582 - 1 - HGNC HGNC:17018 NM_007190.4 - 1 P3 - Ensembl - A A - tolerated(1) benign(0) 0.7514 - 0,1 0,1 16642439,16385451,20887964 - - - - - . 10:119919501-119919501 G downstream_gene_variant MODIFIER SEC23IP ENSG00000107651 Transcript ENST00000446561.1 protein_coding - - - - - - - - - rs2475298,COSV64832582 3686 1 cds_start_NF,cds_end_NF HGNC HGNC:17018 - - 3 - - Ensembl - A A - - - 0.7514 - 0,1 0,1 16642439,16385451,20887964 - - - - - . 10:119919501-119919501 G downstream_gene_variant MODIFIER SEC23IP ENSG00000107651 Transcript ENST00000462222.1 protein_coding_CDS_not_defined - - - - - - - - - rs2475298,COSV64832582 1576 1 - HGNC HGNC:17018 - - 3 - - Ensembl - A A - - - 0.7514 - 0,1 0,1 16642439,16385451,20887964 - - - - - . 10:119919501-119919501 G missense_variant MODERATE SEC23IP ENSG00000107651 Transcript ENST00000705471.1 protein_coding 11/19 - - - 2006 1930 644 K/E Aaa/Gaa rs2475298,COSV64832582 - 1 - HGNC HGNC:17018 - - - A1 - Ensembl - A A - tolerated(1) benign(0) 0.7514 - 0,1 0,1 16642439,16385451,20887964 - - - - - . 10:119919501-119919501 G missense_variant MODERATE SEC23IP 11196 Transcript NM_007190.4 protein_coding 11/19 - - - 1983 1930 644 K/E Aaa/Gaa rs2475298,COSV64832582 - 1 - EntrezGene HGNC:17018 ENST00000369075.8 - - - - RefSeq - A A - tolerated(1) benign(0) 0.7514 - 0,1 0,1 16642439,16385451,20887964 - - - - - . 10:119919501-119919501 G non_coding_transcript_exon_variant MODIFIER SEC23IP 11196 Transcript NR_037771.2 misc_RNA 10/18 - - - 1450 - - - - rs2475298,COSV64832582 - 1 - EntrezGene HGNC:17018 - - - - - RefSeq - A A - - - 0.7514 - 0,1 0,1 16642439,16385451,20887964 - - - - - . 10:119919501-119919501 G missense_variant MODERATE SEC23IP 11196 Transcript XM_005269469.4 protein_coding 11/19 - - - 1983 1930 644 K/E Aaa/Gaa rs2475298,COSV64832582 - 1 - EntrezGene HGNC:17018 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.7514 - 0,1 0,1 16642439,16385451,20887964 - - - - - . 10:119919501-119919501 G missense_variant MODERATE SEC23IP 11196 Transcript XM_047424537.1 protein_coding 11/18 - - - 1983 1930 644 K/E Aaa/Gaa rs2475298,COSV64832582 - 1 - EntrezGene HGNC:17018 - - - - - RefSeq - A A - tolerated(1) benign(0) 0.7514 - 0,1 0,1 16642439,16385451,20887964 - - - - - . 10:119919501-119919501 G non_coding_transcript_exon_variant MODIFIER SEC23IP 11196 Transcript XR_007061940.1 misc_RNA 11/20 - - - 1983 - - - - rs2475298,COSV64832582 - 1 - EntrezGene HGNC:17018 - - - - - RefSeq - A A - - - 0.7514 - 0,1 0,1 16642439,16385451,20887964 - - - - - . 10:119919501-119919501 G non_coding_transcript_exon_variant MODIFIER SEC23IP 11196 Transcript XR_246061.3 misc_RNA 11/20 - - - 1983 - - - - rs2475298,COSV64832582 - 1 - EntrezGene HGNC:17018 - - - - - RefSeq - A A - - - 0.7514 - 0,1 0,1 16642439,16385451,20887964 - - - - - . 10:119919501-119919501 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000034355 enhancer - - - - - - - - - rs2475298,COSV64832582 - - - - - - - - - - - - - - - - - 0.7514 - 0,1 0,1 16642439,16385451,20887964 - - - - - . 10:120124017-120124017 A intergenic_variant MODIFIER - - - - - - - - - - - - - - rs4314979 - - - - - - - - - - - - - - - - - 0.9483 - - - - - - - - - . 10:120354684-120354684 A downstream_gene_variant MODIFIER RPL21P16 ENSG00000220842 Transcript ENST00000495531.1 processed_pseudogene - - - - - - - - - rs12776110 17 -1 - HGNC HGNC:31396 - - - - - Ensembl - T T - - - 0.3690 - - - - - - - - - . 10:120354860-120354860 G non_coding_transcript_exon_variant MODIFIER RPL21P16 ENSG00000220842 Transcript ENST00000495531.1 processed_pseudogene 1/1 - - - 324 - - - - - - -1 - HGNC HGNC:31396 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:120355097-120355097 C non_coding_transcript_exon_variant MODIFIER RPL21P16 ENSG00000220842 Transcript ENST00000495531.1 processed_pseudogene 1/1 - - - 87 - - - - rs927747186 - -1 - HGNC HGNC:31396 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:120355218-120355218 A upstream_gene_variant MODIFIER RPL21P16 ENSG00000220842 Transcript ENST00000495531.1 processed_pseudogene - - - - - - - - - rs61873767 35 -1 - HGNC HGNC:31396 - - - - - Ensembl - G G - - - 0.2574 - - - - - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000224652.12 protein_coding 11/12 - - - 1453 1371 457 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 NM_001001976.3 - 1 A1 - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000369040.9 protein_coding 10/11 - - - 1368 1242 414 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - 2 - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000369043.8 protein_coding 11/12 - - - 1453 1371 457 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - 1 P3 - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000423243.7 nonsense_mediated_decay 9/10 - - - 1358 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - 1 - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000485281.2 protein_coding 3/4 - - - 396 396 132 P ccA/ccC rs35350755,COSV56436536 - -1 cds_start_NF HGNC HGNC:782 - - 3 - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000540606.7 protein_coding 11/12 - - - 1704 1350 450 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - 2 - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000684876.1 nonsense_mediated_decay 9/10 - - - 1210 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000684967.1 nonsense_mediated_decay 9/10 - - - 1021 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000685007.1 protein_coding 11/13 - - - 1497 1371 457 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - P3 - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000685072.1 protein_coding 11/12 - - - 1497 1371 457 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000685289.1 protein_coding 11/12 - - - 1440 1263 421 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000685427.1 nonsense_mediated_decay 8/9 - - - 994 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000685890.1 nonsense_mediated_decay 12/13 - - - 1615 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000686451.1 nonsense_mediated_decay 9/10 - - - 1259 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000686786.1 nonsense_mediated_decay 10/11 - - - 1267 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000686811.1 nonsense_mediated_decay 11/12 - - - 1479 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000686894.1 nonsense_mediated_decay 9/10 - - - 1255 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000686907.1 protein_coding 11/12 - - - 2008 1263 421 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000687089.1 protein_coding 12/13 - - - 1611 1485 495 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000687144.1 protein_coding 5/6 - - - 647 156 52 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G intron_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000687206.1 nonsense_mediated_decay - 11/11 - - - - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000687319.1 nonsense_mediated_decay 9/10 - - - 1204 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000687458.1 protein_coding 11/12 - - - 1497 1371 457 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000687583.1 protein_coding 10/11 - - - 1394 1308 436 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000687607.1 nonsense_mediated_decay 7/8 - - - 734 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000688057.1 protein_coding 10/11 - - - 1389 1308 436 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G non_coding_transcript_exon_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000688153.1 retained_intron 1/2 - - - 357 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000688424.1 nonsense_mediated_decay 4/5 - - - 574 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000688526.1 nonsense_mediated_decay 11/12 - - - 1413 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000689057.1 protein_coding 11/12 - - - 1549 1263 421 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G non_coding_transcript_exon_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000689199.1 protein_coding_CDS_not_defined 4/5 - - - 494 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000689297.1 nonsense_mediated_decay 9/10 - - - 1094 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000689393.1 protein_coding 11/12 - - - 1777 1263 421 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000689455.1 nonsense_mediated_decay 10/11 - - - 1321 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000689571.1 protein_coding 11/12 - - - 1697 1350 450 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G intron_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000689834.1 protein_coding - 1/1 - - - - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G non_coding_transcript_exon_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000689974.1 protein_coding_CDS_not_defined 4/5 - - - 443 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000690128.1 nonsense_mediated_decay 5/6 - - - 560 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000690324.1 nonsense_mediated_decay 9/10 - - - 1037 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000690355.1 protein_coding 12/13 - - - 1626 1500 500 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - A2 - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000690415.1 protein_coding 11/11 - - - 1497 1371 457 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000690488.1 nonsense_mediated_decay 9/10 - - - 1250 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000690706.1 nonsense_mediated_decay 9/10 - - - 1261 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000690748.1 nonsense_mediated_decay 12/13 - - - 1477 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000690773.1 protein_coding 8/9 - - - 1324 1119 373 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000690984.1 protein_coding 4/5 - - - 429 429 143 P ccA/ccC rs35350755,COSV56436536 - -1 cds_start_NF HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000691041.1 nonsense_mediated_decay 9/10 - - - 1427 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000691087.1 nonsense_mediated_decay 12/13 - - - 1748 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000691108.1 nonsense_mediated_decay 11/12 - - - 1337 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000691226.1 nonsense_mediated_decay 5/6 - - - 621 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000691573.1 protein_coding 11/12 - - - 1849 1263 421 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G non_coding_transcript_exon_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000691728.1 protein_coding_CDS_not_defined 3/4 - - - 251 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000691765.1 protein_coding 8/9 - - - 1182 1056 352 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000691830.1 protein_coding 12/13 - - - 1569 1443 481 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G non_coding_transcript_exon_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692034.1 protein_coding_CDS_not_defined 2/3 - - - 255 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692087.1 nonsense_mediated_decay 9/9 - - - 1105 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692255.1 nonsense_mediated_decay 7/8 - - - 956 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000692278.1 protein_coding 11/12 - - - 1483 1263 421 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000692329.1 protein_coding 11/12 - - - 1421 1263 421 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692491.1 nonsense_mediated_decay 7/8 - - - 833 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692513.1 nonsense_mediated_decay 10/11 - - - 1223 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692718.1 nonsense_mediated_decay 9/10 - - - 1341 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692743.1 nonsense_mediated_decay 8/9 - - - 994 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000693276.1 protein_coding 8/9 - - - 1212 1140 380 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000693395.1 nonsense_mediated_decay 2/3 - - - 220 - - - - rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000693411.1 protein_coding 11/12 - - - 1372 1263 421 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G missense_variant MODERATE ATE1 ENSG00000107669 Transcript ENST00000693486.1 protein_coding 10/11 - - - 1397 1271 424 Q/P cAg/cCg rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - tolerated_low_confidence(0.4) benign(0.079) 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000693655.1 protein_coding 4/5 - - - 513 156 52 P ccA/ccC rs35350755,COSV56436536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript NM_001001976.3 protein_coding 11/12 - - - 1453 1371 457 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 ENST00000224652.12 - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript NM_001288734.2 protein_coding 10/11 - - - 1349 1026 342 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript NM_001288735.2 protein_coding 9/10 - - - 1326 1083 361 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript NM_001288736.2 protein_coding 11/12 - - - 1382 1350 450 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript NM_007041.4 protein_coding 11/12 - - - 1453 1371 457 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G non_coding_transcript_exon_variant MODIFIER ATE1 11101 Transcript NR_110006.2 misc_RNA 9/10 - - - 1089 - - - - rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_005269458.4 protein_coding 12/13 - - - 1582 1500 500 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_005269459.4 protein_coding 12/13 - - - 1511 1479 493 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_017015597.2 protein_coding 11/12 - - - 2098 1518 506 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_017015598.3 protein_coding 11/12 - - - 1382 1350 450 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_017015599.3 protein_coding 10/11 - - - 1324 1242 414 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424521.1 protein_coding 12/13 - - - 2131 1551 517 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424522.1 protein_coding 11/12 - - - 1549 1467 489 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424523.1 protein_coding 11/12 - - - 1478 1446 482 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424524.1 protein_coding 11/12 - - - 2000 1422 474 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424525.1 protein_coding 11/12 - - - 2048 1422 474 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424526.1 protein_coding 12/13 - - - 1678 1392 464 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424527.1 protein_coding 12/13 - - - 1623 1392 464 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424528.1 protein_coding 10/11 - - - 1967 1389 463 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424529.1 protein_coding 10/11 - - - 1420 1338 446 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424530.1 protein_coding 10/11 - - - 1349 1317 439 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424531.1 protein_coding 10/11 - - - 1870 1293 431 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424532.1 protein_coding 10/11 - - - 1253 1221 407 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121790176-121790176 G synonymous_variant LOW ATE1 11101 Transcript XM_047424533.1 protein_coding 9/10 - - - 1226 1155 385 P ccA/ccC rs35350755,COSV56436536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.5016 - 0,1 0,1 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000224652.12 protein_coding 10/12 - - - 1318 1236 412 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 NM_001001976.3 - 1 A1 - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000369040.9 protein_coding 9/11 - - - 1233 1107 369 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - 2 - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000369043.8 protein_coding 10/12 - - - 1318 1236 412 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - 1 P3 - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000423243.7 nonsense_mediated_decay 8/10 - - - 1223 - - - - rs4237536 - -1 - HGNC HGNC:782 - - 1 - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000485281.2 protein_coding 2/4 - - - 261 261 87 S tcA/tcG rs4237536 - -1 cds_start_NF HGNC HGNC:782 - - 3 - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000540606.7 protein_coding 10/12 - - - 1569 1215 405 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - 2 - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000684876.1 nonsense_mediated_decay 8/10 - - - 1075 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000684967.1 nonsense_mediated_decay 8/10 - - - 886 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000685007.1 protein_coding 10/13 - - - 1362 1236 412 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - P3 - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000685072.1 protein_coding 10/12 - - - 1362 1236 412 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000685289.1 protein_coding 10/12 - - - 1305 1128 376 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C intron_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000685427.1 nonsense_mediated_decay - 7/8 - - - - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000685890.1 nonsense_mediated_decay 11/13 - - - 1480 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000686451.1 nonsense_mediated_decay 8/10 - - - 1124 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000686786.1 nonsense_mediated_decay 9/11 - - - 1132 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000686811.1 nonsense_mediated_decay 10/12 - - - 1344 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000686894.1 nonsense_mediated_decay 8/10 - - - 1120 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000686907.1 protein_coding 10/12 - - - 1873 1128 376 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000687089.1 protein_coding 11/13 - - - 1476 1350 450 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000687144.1 protein_coding 4/6 - - - 512 21 7 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000687206.1 nonsense_mediated_decay 11/12 - - - 1480 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000687319.1 nonsense_mediated_decay 8/10 - - - 1069 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000687458.1 protein_coding 10/12 - - - 1362 1236 412 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000687583.1 protein_coding 9/11 - - - 1259 1173 391 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000687607.1 nonsense_mediated_decay 6/8 - - - 599 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000688057.1 protein_coding 9/11 - - - 1254 1173 391 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000688424.1 nonsense_mediated_decay 3/5 - - - 439 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000688526.1 nonsense_mediated_decay 10/12 - - - 1278 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000689057.1 protein_coding 10/12 - - - 1414 1128 376 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C non_coding_transcript_exon_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000689199.1 protein_coding_CDS_not_defined 3/5 - - - 359 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000689297.1 nonsense_mediated_decay 8/10 - - - 959 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000689393.1 protein_coding 10/12 - - - 1642 1128 376 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000689455.1 nonsense_mediated_decay 9/11 - - - 1186 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000689571.1 protein_coding 10/12 - - - 1562 1215 405 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C intron_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000689834.1 protein_coding - 1/1 - - - - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C non_coding_transcript_exon_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000689974.1 protein_coding_CDS_not_defined 3/5 - - - 308 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000690128.1 nonsense_mediated_decay 4/6 - - - 425 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000690324.1 nonsense_mediated_decay 8/10 - - - 902 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000690355.1 protein_coding 11/13 - - - 1491 1365 455 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - A2 - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000690415.1 protein_coding 10/11 - - - 1362 1236 412 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000690488.1 nonsense_mediated_decay 8/10 - - - 1115 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000690706.1 nonsense_mediated_decay 8/10 - - - 1126 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000690748.1 nonsense_mediated_decay 11/13 - - - 1342 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000690773.1 protein_coding 7/9 - - - 1189 984 328 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000690984.1 protein_coding 3/5 - - - 294 294 98 S tcA/tcG rs4237536 - -1 cds_start_NF HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000691041.1 nonsense_mediated_decay 8/10 - - - 1292 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000691087.1 nonsense_mediated_decay 11/13 - - - 1613 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000691108.1 nonsense_mediated_decay 10/12 - - - 1202 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000691226.1 nonsense_mediated_decay 4/6 - - - 486 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000691573.1 protein_coding 10/12 - - - 1714 1128 376 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C non_coding_transcript_exon_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000691728.1 protein_coding_CDS_not_defined 2/4 - - - 116 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C intron_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000691765.1 protein_coding - 7/8 - - - - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000691830.1 protein_coding 11/13 - - - 1434 1308 436 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C intron_variant,non_coding_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692034.1 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692087.1 nonsense_mediated_decay 8/9 - - - 970 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692255.1 nonsense_mediated_decay 6/8 - - - 821 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000692278.1 protein_coding 10/12 - - - 1348 1128 376 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000692329.1 protein_coding 10/12 - - - 1286 1128 376 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692491.1 nonsense_mediated_decay 6/8 - - - 698 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692513.1 nonsense_mediated_decay 9/11 - - - 1088 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692718.1 nonsense_mediated_decay 8/10 - - - 1206 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C 3_prime_UTR_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000692743.1 nonsense_mediated_decay 7/9 - - - 859 - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000693276.1 protein_coding 7/9 - - - 1077 1005 335 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C intron_variant,NMD_transcript_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000693395.1 nonsense_mediated_decay - 1/2 - - - - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000693411.1 protein_coding 10/12 - - - 1237 1128 376 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C intron_variant MODIFIER ATE1 ENSG00000107669 Transcript ENST00000693486.1 protein_coding - 9/10 - - - - - - - rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 ENSG00000107669 Transcript ENST00000693655.1 protein_coding 3/5 - - - 378 21 7 S tcA/tcG rs4237536 - -1 - HGNC HGNC:782 - - - - - Ensembl - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript NM_001001976.3 protein_coding 10/12 - - - 1318 1236 412 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 ENST00000224652.12 - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript NM_001288734.2 protein_coding 9/11 - - - 1214 891 297 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript NM_001288735.2 protein_coding 8/10 - - - 1191 948 316 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript NM_001288736.2 protein_coding 10/12 - - - 1247 1215 405 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript NM_007041.4 protein_coding 10/12 - - - 1318 1236 412 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C non_coding_transcript_exon_variant MODIFIER ATE1 11101 Transcript NR_110006.2 misc_RNA 8/10 - - - 954 - - - - rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_005269458.4 protein_coding 11/13 - - - 1447 1365 455 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_005269459.4 protein_coding 11/13 - - - 1376 1344 448 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_017015597.2 protein_coding 10/12 - - - 1963 1383 461 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_017015598.3 protein_coding 10/12 - - - 1247 1215 405 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_017015599.3 protein_coding 9/11 - - - 1189 1107 369 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424521.1 protein_coding 11/13 - - - 1996 1416 472 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424522.1 protein_coding 10/12 - - - 1414 1332 444 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424523.1 protein_coding 10/12 - - - 1343 1311 437 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424524.1 protein_coding 10/12 - - - 1865 1287 429 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424525.1 protein_coding 10/12 - - - 1913 1287 429 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424526.1 protein_coding 11/13 - - - 1543 1257 419 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424527.1 protein_coding 11/13 - - - 1488 1257 419 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424528.1 protein_coding 9/11 - - - 1832 1254 418 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424529.1 protein_coding 9/11 - - - 1285 1203 401 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424530.1 protein_coding 9/11 - - - 1214 1182 394 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424531.1 protein_coding 9/11 - - - 1735 1158 386 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424532.1 protein_coding 9/11 - - - 1118 1086 362 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:121836739-121836739 C synonymous_variant LOW ATE1 11101 Transcript XM_047424533.1 protein_coding 8/10 - - - 1091 1020 340 S tcA/tcG rs4237536 - -1 - EntrezGene HGNC:782 - - - - - RefSeq - T T - - - 0.8892 - - - 24550759 - - - - - . 10:122307137-122307137 A intron_variant MODIFIER BTBD16 ENSG00000138152 Transcript ENST00000260723.6 protein_coding - 9/15 - - - - - - - rs7082865 - 1 - HGNC HGNC:26340 NM_144587.5 - 2 P1 - Ensembl - G G - - - 0.6524 - - - - - - - - - . 10:122307137-122307137 A intron_variant MODIFIER BTBD16 118663 Transcript NM_001318189.3 protein_coding - 9/15 - - - - - - - rs7082865 - 1 - EntrezGene HGNC:26340 - - - - - RefSeq - G G - - - 0.6524 - - - - - - - - - . 10:122307137-122307137 A intron_variant MODIFIER BTBD16 118663 Transcript NM_144587.5 protein_coding - 9/15 - - - - - - - rs7082865 - 1 - EntrezGene HGNC:26340 ENST00000260723.6 - - - - RefSeq - G G - - - 0.6524 - - - - - - - - - . 10:122307137-122307137 A intron_variant MODIFIER BTBD16 118663 Transcript XM_011539239.3 protein_coding - 9/14 - - - - - - - rs7082865 - 1 - EntrezGene HGNC:26340 - - - - - RefSeq - G G - - - 0.6524 - - - - - - - - - . 10:122307137-122307137 A intron_variant MODIFIER BTBD16 118663 Transcript XM_011539240.3 protein_coding - 8/14 - - - - - - - rs7082865 - 1 - EntrezGene HGNC:26340 - - - - - RefSeq - G G - - - 0.6524 - - - - - - - - - . 10:122307137-122307137 A intron_variant MODIFIER BTBD16 118663 Transcript XM_011539241.3 protein_coding - 7/13 - - - - - - - rs7082865 - 1 - EntrezGene HGNC:26340 - - - - - RefSeq - G G - - - 0.6524 - - - - - - - - - . 10:122307137-122307137 A intron_variant MODIFIER BTBD16 118663 Transcript XM_011539242.3 protein_coding - 7/12 - - - - - - - rs7082865 - 1 - EntrezGene HGNC:26340 - - - - - RefSeq - G G - - - 0.6524 - - - - - - - - - . 10:122307137-122307137 A intron_variant MODIFIER BTBD16 118663 Transcript XM_017015637.2 protein_coding - 5/11 - - - - - - - rs7082865 - 1 - EntrezGene HGNC:26340 - - - - - RefSeq - G G - - - 0.6524 - - - - - - - - - . 10:122454839-122454839 T stop_gained HIGH ARMS2 ENSG00000254636 Transcript ENST00000528446.1 protein_coding 1/2 - - - 187 112 38 R/* Cga/Tga rs2736911,CM083592,COSV73306995 - 1 - HGNC HGNC:32685 NM_001099667.3 - 1 P1 - Ensembl - C C - - - 0.1144 benign 0,0,1 1,1,1 18162041,22303384,16080115,17903299,19958499,20961462,23289807,20157352,19259132,23687431,26171855,21958005,16642439,19933179,22293892,24013816,21252205,18164066,20140183,23644223,18688167,20664794,21203342,23572227,23592919,25074467,28128407,19268887,28086806,27879347,27147087,28583181,32328755,36615095 - - - - - . 10:122454839-122454839 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000285955 Transcript ENST00000647969.1 lncRNA - 1/1 - - - - - - - rs2736911,CM083592,COSV73306995 - -1 - - - - - - - - Ensembl - C C - - - 0.1144 benign 0,0,1 1,1,1 18162041,22303384,16080115,17903299,19958499,20961462,23289807,20157352,19259132,23687431,26171855,21958005,16642439,19933179,22293892,24013816,21252205,18164066,20140183,23644223,18688167,20664794,21203342,23572227,23592919,25074467,28128407,19268887,28086806,27879347,27147087,28583181,32328755,36615095 - - - - - . 10:122454839-122454839 T upstream_gene_variant MODIFIER HTRA1 ENSG00000166033 Transcript ENST00000648167.1 protein_coding - - - - - - - - - rs2736911,CM083592,COSV73306995 3712 1 - HGNC HGNC:9476 - - - - - Ensembl - C C - - - 0.1144 benign 0,0,1 1,1,1 18162041,22303384,16080115,17903299,19958499,20961462,23289807,20157352,19259132,23687431,26171855,21958005,16642439,19933179,22293892,24013816,21252205,18164066,20140183,23644223,18688167,20664794,21203342,23572227,23592919,25074467,28128407,19268887,28086806,27879347,27147087,28583181,32328755,36615095 - - - - - . 10:122454839-122454839 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000285955 Transcript ENST00000650300.1 lncRNA - 2/2 - - - - - - - rs2736911,CM083592,COSV73306995 - -1 - - - - - - - - Ensembl - C C - - - 0.1144 benign 0,0,1 1,1,1 18162041,22303384,16080115,17903299,19958499,20961462,23289807,20157352,19259132,23687431,26171855,21958005,16642439,19933179,22293892,24013816,21252205,18164066,20140183,23644223,18688167,20664794,21203342,23572227,23592919,25074467,28128407,19268887,28086806,27879347,27147087,28583181,32328755,36615095 - - - - - . 10:122454839-122454839 T stop_gained HIGH ARMS2 387715 Transcript NM_001099667.3 protein_coding 1/2 - - - 187 112 38 R/* Cga/Tga rs2736911,CM083592,COSV73306995 - 1 - EntrezGene HGNC:32685 ENST00000528446.1 - - - - RefSeq - C C - - - 0.1144 benign 0,0,1 1,1,1 18162041,22303384,16080115,17903299,19958499,20961462,23289807,20157352,19259132,23687431,26171855,21958005,16642439,19933179,22293892,24013816,21252205,18164066,20140183,23644223,18688167,20664794,21203342,23572227,23592919,25074467,28128407,19268887,28086806,27879347,27147087,28583181,32328755,36615095 - - - - - . 10:122454839-122454839 T intron_variant,non_coding_transcript_variant MODIFIER LOC105378525 105378525 Transcript XR_946382.3 lncRNA - 2/2 - - - - - - - rs2736911,CM083592,COSV73306995 - -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.1144 benign 0,0,1 1,1,1 18162041,22303384,16080115,17903299,19958499,20961462,23289807,20157352,19259132,23687431,26171855,21958005,16642439,19933179,22293892,24013816,21252205,18164066,20140183,23644223,18688167,20664794,21203342,23572227,23592919,25074467,28128407,19268887,28086806,27879347,27147087,28583181,32328755,36615095 - - - - - . 10:122454839-122454839 T intron_variant,non_coding_transcript_variant MODIFIER LOC105378525 105378525 Transcript XR_946383.3 lncRNA - 2/3 - - - - - - - rs2736911,CM083592,COSV73306995 - -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.1144 benign 0,0,1 1,1,1 18162041,22303384,16080115,17903299,19958499,20961462,23289807,20157352,19259132,23687431,26171855,21958005,16642439,19933179,22293892,24013816,21252205,18164066,20140183,23644223,18688167,20664794,21203342,23572227,23592919,25074467,28128407,19268887,28086806,27879347,27147087,28583181,32328755,36615095 - - - - - . 10:122454839-122454839 T intron_variant,non_coding_transcript_variant MODIFIER LOC105378525 105378525 Transcript XR_946384.3 lncRNA - 3/3 - - - - - - - rs2736911,CM083592,COSV73306995 - -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.1144 benign 0,0,1 1,1,1 18162041,22303384,16080115,17903299,19958499,20961462,23289807,20157352,19259132,23687431,26171855,21958005,16642439,19933179,22293892,24013816,21252205,18164066,20140183,23644223,18688167,20664794,21203342,23572227,23592919,25074467,28128407,19268887,28086806,27879347,27147087,28583181,32328755,36615095 - - - - - . 10:122454839-122454839 T downstream_gene_variant MODIFIER LOC105378525 105378525 Transcript XR_946385.3 lncRNA - - - - - - - - - rs2736911,CM083592,COSV73306995 96 -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.1144 benign 0,0,1 1,1,1 18162041,22303384,16080115,17903299,19958499,20961462,23289807,20157352,19259132,23687431,26171855,21958005,16642439,19933179,22293892,24013816,21252205,18164066,20140183,23644223,18688167,20664794,21203342,23572227,23592919,25074467,28128407,19268887,28086806,27879347,27147087,28583181,32328755,36615095 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding 3/40 - - - 230 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - tolerated_low_confidence(0.62) benign(0.003) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding 3/56 - - - 141 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - C C - tolerated_low_confidence(0.59) benign(0.018) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding 3/52 - - - 230 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - tolerated_low_confidence(0.96) benign(0.026) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding 3/53 - - - 230 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - tolerated_low_confidence(1) benign(0.003) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding 3/52 - - - 230 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - tolerated_low_confidence(0.96) benign(0.026) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding 3/40 - - - 230 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - tolerated_low_confidence(0.62) benign(0.003) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding 3/53 - - - 230 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - tolerated_low_confidence(1) benign(0.003) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding 3/53 - - - 230 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - tolerated_low_confidence(1) benign(0.003) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding 3/51 - - - 124 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - tolerated_low_confidence(0.99) benign(0.01) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding 3/25 - - - 210 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - tolerated_low_confidence(0.5) benign(0.014) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding 3/55 - - - 124 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - C C - tolerated_low_confidence(0.63) benign(0.012) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding 3/34 - - - 124 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - tolerated_low_confidence(1) benign(0) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding 3/53 - - - 230 124 42 P/T Cca/Aca rs11523871 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - tolerated_low_confidence(1) benign(0) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A non_coding_transcript_exon_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000667454.1 retained_intron 2/12 - - - 149 - - - - rs11523871 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 1755 Transcript NM_001320644.2 protein_coding 3/53 - - - 141 124 42 P/T Cca/Aca rs11523871 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 1755 Transcript NM_001377530.1 protein_coding 3/56 - - - 141 124 42 P/T Cca/Aca rs11523871 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - C C - tolerated_low_confidence(0.59) benign(0.018) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 1755 Transcript NM_004406.3 protein_coding 3/40 - - - 141 124 42 P/T Cca/Aca rs11523871 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - tolerated_low_confidence(0.62) benign(0.003) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 1755 Transcript NM_007329.3 protein_coding 3/53 - - - 141 124 42 P/T Cca/Aca rs11523871 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - tolerated_low_confidence(1) benign(0.003) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570194-122570194 A missense_variant MODERATE DMBT1 1755 Transcript NM_017579.3 protein_coding 3/52 - - - 141 124 42 P/T Cca/Aca rs11523871 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - tolerated_low_confidence(0.96) benign(0.026) 0.7057 - - - 23107584,22773901,24223725,19830809,31683572,35494225 - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding - 3/39 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding - 3/55 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding - 3/51 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding - 3/52 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding - 3/51 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding - 3/39 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding - 3/52 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding - 3/52 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding - 3/50 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 3/24 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding - 3/54 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding - 3/33 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding - 3/52 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant,non_coding_transcript_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000667454.1 retained_intron - 2/11 - - - - - - - rs3740222 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 1755 Transcript NM_001320644.2 protein_coding - 3/52 - - - - - - - rs3740222 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 1755 Transcript NM_001377530.1 protein_coding - 3/55 - - - - - - - rs3740222 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 1755 Transcript NM_004406.3 protein_coding - 3/39 - - - - - - - rs3740222 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 1755 Transcript NM_007329.3 protein_coding - 3/52 - - - - - - - rs3740222 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - - - 0.7057 - - - - - - - - - . 10:122570230-122570230 T intron_variant MODIFIER DMBT1 1755 Transcript NM_017579.3 protein_coding - 3/51 - - - - - - - rs3740222 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - - - 0.7057 - - - - - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding 4/40 - - - 267 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - tolerated_low_confidence(0.45) benign(0.003) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding 4/56 - - - 178 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - C C - tolerated_low_confidence(0.26) benign(0.031) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding 4/52 - - - 267 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - tolerated_low_confidence(0.37) benign(0.007) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding 4/53 - - - 267 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - tolerated_low_confidence(0.45) benign(0.001) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding 4/52 - - - 267 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - tolerated_low_confidence(0.37) benign(0.007) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding 4/40 - - - 267 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - tolerated_low_confidence(0.45) benign(0.003) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding 4/53 - - - 267 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - tolerated_low_confidence(0.45) benign(0.001) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding 4/53 - - - 267 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - tolerated_low_confidence(0.45) benign(0.001) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding 4/51 - - - 161 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - tolerated_low_confidence(0.42) benign(0.011) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding 4/25 - - - 247 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - tolerated_low_confidence(0.48) benign(0.007) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding 4/55 - - - 161 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - C C - tolerated_low_confidence(0.25) benign(0.014) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding 4/34 - - - 161 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - tolerated_low_confidence(0.45) benign(0.009) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding 4/53 - - - 267 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - tolerated_low_confidence(0.36) benign(0) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T non_coding_transcript_exon_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000667454.1 retained_intron 3/12 - - - 186 - - - - rs3013236,COSV57547585 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 1755 Transcript NM_001320644.2 protein_coding 4/53 - - - 178 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - tolerated_low_confidence(0.36) benign(0) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 1755 Transcript NM_001377530.1 protein_coding 4/56 - - - 178 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - C C - tolerated_low_confidence(0.26) benign(0.031) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 1755 Transcript NM_004406.3 protein_coding 4/40 - - - 178 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - tolerated_low_confidence(0.45) benign(0.003) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 1755 Transcript NM_007329.3 protein_coding 4/53 - - - 178 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - tolerated_low_confidence(0.45) benign(0.001) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122570911-122570911 T missense_variant MODERATE DMBT1 1755 Transcript NM_017579.3 protein_coding 4/52 - - - 178 161 54 S/L tCg/tTg rs3013236,COSV57547585 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - tolerated_low_confidence(0.37) benign(0.007) 0.7053 - 0,1 0,1 24223725,16385451,35494225 - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding 5/40 - - - 331 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding 5/56 - - - 242 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding 5/52 - - - 331 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding 5/53 - - - 331 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding 5/52 - - - 331 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding 5/40 - - - 331 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding 5/53 - - - 331 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding 5/53 - - - 331 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding 5/51 - - - 225 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding 5/25 - - - 311 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding 5/55 - - - 225 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding 5/34 - - - 225 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding 5/53 - - - 331 225 75 T acC/acT rs7084792 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T non_coding_transcript_exon_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000667454.1 retained_intron 4/12 - - - 250 - - - - rs7084792 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 1755 Transcript NM_001320644.2 protein_coding 5/53 - - - 242 225 75 T acC/acT rs7084792 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 1755 Transcript NM_001377530.1 protein_coding 5/56 - - - 242 225 75 T acC/acT rs7084792 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 1755 Transcript NM_004406.3 protein_coding 5/40 - - - 242 225 75 T acC/acT rs7084792 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 1755 Transcript NM_007329.3 protein_coding 5/53 - - - 242 225 75 T acC/acT rs7084792 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.9874 - - - - - - - - - . 10:122572351-122572351 T synonymous_variant LOW DMBT1 1755 Transcript NM_017579.3 protein_coding 5/52 - - - 242 225 75 T acC/acT rs7084792 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.9874 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding - 6/39 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding - 6/55 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding - 6/51 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding - 6/52 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding - 6/51 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding - 6/39 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding - 6/52 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding - 6/52 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding - 6/50 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 6/24 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding - 6/54 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding - 6/33 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding - 6/52 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant,non_coding_transcript_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000667454.1 retained_intron - 5/11 - - - - - - - rs2277235 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 1755 Transcript NM_001320644.2 protein_coding - 6/52 - - - - - - - rs2277235 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 1755 Transcript NM_001377530.1 protein_coding - 6/55 - - - - - - - rs2277235 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 1755 Transcript NM_004406.3 protein_coding - 6/39 - - - - - - - rs2277235 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 1755 Transcript NM_007329.3 protein_coding - 6/52 - - - - - - - rs2277235 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.6366 - - - - - - - - - . 10:122573792-122573792 A intron_variant MODIFIER DMBT1 1755 Transcript NM_017579.3 protein_coding - 6/51 - - - - - - - rs2277235 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.6366 - - - - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding 10/40 - - - 1070 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - A A - tolerated(0.07) benign(0.12) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding 10/56 - - - 981 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - A A - deleterious(0.03) probably_damaging(0.997) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding 10/52 - - - 1070 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - A A - deleterious(0.01) probably_damaging(0.999) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding 10/53 - - - 1070 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - deleterious(0.03) possibly_damaging(0.883) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding 10/52 - - - 1070 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - deleterious(0.01) probably_damaging(0.999) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding 10/40 - - - 1070 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - tolerated(0.07) benign(0.12) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding 10/53 - - - 1070 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - deleterious(0.03) possibly_damaging(0.883) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding 10/53 - - - 1070 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - deleterious(0.03) possibly_damaging(0.883) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding 10/51 - - - 964 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - deleterious(0.04) probably_damaging(0.939) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 7/24 - - - - - - - rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding 10/55 - - - 964 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - A A - deleterious(0.03) possibly_damaging(0.837) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding 10/34 - - - 964 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - deleterious(0.02) benign(0.052) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding 10/53 - - - 1070 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - deleterious(0.04) probably_damaging(0.981) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G non_coding_transcript_exon_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000667454.1 retained_intron 9/12 - - - 989 - - - - rs1969620,COSV57555930 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 1755 Transcript NM_001320644.2 protein_coding 10/53 - - - 981 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - deleterious(0.04) probably_damaging(0.981) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 1755 Transcript NM_001377530.1 protein_coding 10/56 - - - 981 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - A A - deleterious(0.03) probably_damaging(0.997) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 1755 Transcript NM_004406.3 protein_coding 10/40 - - - 981 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - tolerated(0.07) benign(0.12) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 1755 Transcript NM_007329.3 protein_coding 10/53 - - - 981 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - deleterious(0.03) possibly_damaging(0.883) 0.1012 - 0,1 0,1 - - - - - - . 10:122579862-122579862 G missense_variant MODERATE DMBT1 1755 Transcript NM_017579.3 protein_coding 10/52 - - - 981 964 322 N/D Aac/Gac rs1969620,COSV57555930 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - deleterious(0.01) probably_damaging(0.999) 0.1012 - 0,1 0,1 - - - - - - . 10:122589168-122589168 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding - 11/39 - - - - - - - rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - - - 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding 17/56 - - - 2025 2008 670 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - C C - tolerated(0.17) probably_damaging(0.966) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding 16/52 - - - 2084 1978 660 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - deleterious(0.04) possibly_damaging(0.833) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding 17/53 - - - 2114 2008 670 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - deleterious(0.04) unknown(0) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding 16/52 - - - 2084 1978 660 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - deleterious(0.04) possibly_damaging(0.833) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding - 14/39 - - - - - - - rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding 17/53 - - - 2114 2008 670 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - deleterious(0.04) unknown(0) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding 17/53 - - - 2114 2008 670 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - deleterious(0.04) unknown(0) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding 17/51 - - - 2008 2008 670 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - deleterious(0.04) possibly_damaging(0.833) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 8/24 - - - - - - - rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding 16/55 - - - 1978 1978 660 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - C C - tolerated(0.17) benign(0.041) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding - 11/33 - - - - - - - rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding 17/53 - - - 2114 2008 670 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - deleterious(0.04) probably_damaging(0.991) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000668486.1 protein_coding - - - - - - - - - rs2277237,COSV57547063 3402 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 1755 Transcript NM_001320644.2 protein_coding 17/53 - - - 2025 2008 670 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - deleterious(0.04) probably_damaging(0.991) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 1755 Transcript NM_001377530.1 protein_coding 17/56 - - - 2025 2008 670 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - C C - tolerated(0.17) probably_damaging(0.966) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T intron_variant MODIFIER DMBT1 1755 Transcript NM_004406.3 protein_coding - 14/39 - - - - - - - rs2277237,COSV57547063 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 1755 Transcript NM_007329.3 protein_coding 17/53 - - - 2025 2008 670 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - deleterious(0.04) unknown(0) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T missense_variant MODERATE DMBT1 1755 Transcript NM_017579.3 protein_coding 16/52 - - - 1995 1978 660 R/C Cgc/Tgc rs2277237,COSV57547063 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - deleterious(0.04) possibly_damaging(0.833) 0.0154 benign 0,1 1,1 - - - - - - . 10:122589168-122589168 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000418283 open_chromatin_region - - - - - - - - - rs2277237,COSV57547063 - - - - - - - - - - - - - - - - - 0.0154 benign 0,1 1,1 - - - - - - . 10:122592438-122592438 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding - 11/39 - - - - - - - rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding 20/56 - - - 2360 2343 781 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding 19/52 - - - 2419 2313 771 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding 20/53 - - - 2449 2343 781 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding 19/52 - - - 2419 2313 771 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding - 14/39 - - - - - - - rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding 20/53 - - - 2449 2343 781 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding 20/53 - - - 2449 2343 781 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding 20/51 - - - 2343 2343 781 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000656203.1 protein_coding - - - - - - - - - rs4752722,COSV57538880,COSV57555042 3072 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 8/24 - - - - - - - rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding 19/55 - - - 2313 2313 771 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding - 11/33 - - - - - - - rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding 20/53 - - - 2449 2343 781 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000668486.1 protein_coding - - - - - - - - - rs4752722,COSV57538880,COSV57555042 132 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 1755 Transcript NM_001320644.2 protein_coding 20/53 - - - 2360 2343 781 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 1755 Transcript NM_001377530.1 protein_coding 20/56 - - - 2360 2343 781 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A intron_variant MODIFIER DMBT1 1755 Transcript NM_004406.3 protein_coding - 14/39 - - - - - - - rs4752722,COSV57538880,COSV57555042 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 1755 Transcript NM_007329.3 protein_coding 20/53 - - - 2360 2343 781 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A synonymous_variant LOW DMBT1 1755 Transcript NM_017579.3 protein_coding 19/52 - - - 2330 2313 771 S tcG/tcA rs4752722,COSV57538880,COSV57555042 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592438-122592438 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000034601 open_chromatin_region - - - - - - - - - rs4752722,COSV57538880,COSV57555042 - - - - - - - - - - - - - - - - - 0.3722 likely_benign 0,1,1 1,1,1 - - - - - - . 10:122592476-122592476 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding - 11/39 - - - - - - - rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - - - 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding 20/56 - - - 2398 2381 794 P/L cCc/cTc rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - C C - tolerated(0.06) benign(0.242) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding 19/52 - - - 2457 2351 784 P/L cCc/cTc rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - deleterious(0.04) probably_damaging(0.976) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding 20/53 - - - 2487 2381 794 P/L cCc/cTc rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - deleterious(0.04) unknown(0) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding 19/52 - - - 2457 2351 784 P/L cCc/cTc rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - deleterious(0.04) probably_damaging(0.976) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding - 14/39 - - - - - - - rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding 20/53 - - - 2487 2381 794 P/L cCc/cTc rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - deleterious(0.04) unknown(0) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding 20/53 - - - 2487 2381 794 P/L cCc/cTc rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - deleterious(0.04) unknown(0) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding 20/51 - - - 2381 2381 794 P/L cCc/cTc rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - tolerated(0.05) probably_damaging(0.984) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000656203.1 protein_coding - - - - - - - - - rs118033581,COSV57538048 3034 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 8/24 - - - - - - - rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding 19/55 - - - 2351 2351 784 P/L cCc/cTc rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - C C - tolerated(0.07) unknown(0) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding - 11/33 - - - - - - - rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding 20/53 - - - 2487 2381 794 P/L cCc/cTc rs118033581,COSV57538048 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - deleterious(0.04) probably_damaging(0.971) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000668486.1 protein_coding - - - - - - - - - rs118033581,COSV57538048 94 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 1755 Transcript NM_001320644.2 protein_coding 20/53 - - - 2398 2381 794 P/L cCc/cTc rs118033581,COSV57538048 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - deleterious(0.04) probably_damaging(0.971) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 1755 Transcript NM_001377530.1 protein_coding 20/56 - - - 2398 2381 794 P/L cCc/cTc rs118033581,COSV57538048 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - C C - tolerated(0.06) benign(0.242) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T intron_variant MODIFIER DMBT1 1755 Transcript NM_004406.3 protein_coding - 14/39 - - - - - - - rs118033581,COSV57538048 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 1755 Transcript NM_007329.3 protein_coding 20/53 - - - 2398 2381 794 P/L cCc/cTc rs118033581,COSV57538048 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - deleterious(0.04) unknown(0) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T missense_variant MODERATE DMBT1 1755 Transcript NM_017579.3 protein_coding 19/52 - - - 2368 2351 784 P/L cCc/cTc rs118033581,COSV57538048 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - deleterious(0.04) probably_damaging(0.976) 0.0507 - 0,1 0,1 - - - - - - . 10:122592476-122592476 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000034601 open_chromatin_region - - - - - - - - - rs118033581,COSV57538048 - - - - - - - - - - - - - - - - - 0.0507 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding - 11/39 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding - 21/55 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding - 20/51 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding - 21/52 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding - 20/51 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding - 14/39 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding - 21/52 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding - 21/52 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding - 21/50 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000656203.1 protein_coding - - - - - - - - - rs45489000,COSV57545115 1755 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 8/24 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding - 20/54 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding - 11/33 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding - 21/52 - - - - - - - rs45489000,COSV57545115 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000668486.1 protein_coding - 2/6 - - - - - - - rs45489000,COSV57545115 - 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 1755 Transcript NM_001320644.2 protein_coding - 21/52 - - - - - - - rs45489000,COSV57545115 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 1755 Transcript NM_001377530.1 protein_coding - 21/55 - - - - - - - rs45489000,COSV57545115 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 1755 Transcript NM_004406.3 protein_coding - 14/39 - - - - - - - rs45489000,COSV57545115 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 1755 Transcript NM_007329.3 protein_coding - 21/52 - - - - - - - rs45489000,COSV57545115 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593755-122593755 T intron_variant MODIFIER DMBT1 1755 Transcript NM_017579.3 protein_coding - 20/51 - - - - - - - rs45489000,COSV57545115 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.0867 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding - 11/39 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding - 21/55 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding - 20/51 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding - 21/52 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding - 20/51 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding - 14/39 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding - 21/52 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding - 21/52 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding - 21/50 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000656203.1 protein_coding - - - - - - - - - rs45549635,COSV57540022 1731 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 8/24 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding - 20/54 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding - 11/33 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding - 21/52 - - - - - - - rs45549635,COSV57540022 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000668486.1 protein_coding - 2/6 - - - - - - - rs45549635,COSV57540022 - 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 1755 Transcript NM_001320644.2 protein_coding - 21/52 - - - - - - - rs45549635,COSV57540022 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 1755 Transcript NM_001377530.1 protein_coding - 21/55 - - - - - - - rs45549635,COSV57540022 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 1755 Transcript NM_004406.3 protein_coding - 14/39 - - - - - - - rs45549635,COSV57540022 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 1755 Transcript NM_007329.3 protein_coding - 21/52 - - - - - - - rs45549635,COSV57540022 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122593779-122593779 C intron_variant MODIFIER DMBT1 1755 Transcript NM_017579.3 protein_coding - 20/51 - - - - - - - rs45549635,COSV57540022 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.2424 - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding - 11/39 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding - 21/55 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding - 20/51 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding - 21/52 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding - 20/51 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding - 14/39 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding - 21/52 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding - 21/52 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding - 21/50 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000656203.1 protein_coding - - - - - - - - - rs202021442,COSV57559352 1509 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 8/24 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664003.1 protein_coding - - - - - - - - - rs202021442,COSV57559352 4848 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding - 20/54 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding - 11/33 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding - 21/52 - - - - - - - rs202021442,COSV57559352 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000668486.1 protein_coding - 2/6 - - - - - - - rs202021442,COSV57559352 - 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 1755 Transcript NM_001320644.2 protein_coding - 21/52 - - - - - - - rs202021442,COSV57559352 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 1755 Transcript NM_001377530.1 protein_coding - 21/55 - - - - - - - rs202021442,COSV57559352 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 1755 Transcript NM_004406.3 protein_coding - 14/39 - - - - - - - rs202021442,COSV57559352 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 1755 Transcript NM_007329.3 protein_coding - 21/52 - - - - - - - rs202021442,COSV57559352 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:122594001-122594001 A intron_variant MODIFIER DMBT1 1755 Transcript NM_017579.3 protein_coding - 20/51 - - - - - - - rs202021442,COSV57559352 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding - 23/39 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding - 39/55 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding - 35/51 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding - 36/52 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding - 35/51 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding - 23/39 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding - 36/52 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding - 36/52 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 - - - - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding - 36/50 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 - - - - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 11/24 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 - - - - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000663623.1 retained_intron - - - - - - - - - rs3019533,COSV57538075 4047 1 - HGNC HGNC:2926 - - - - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding - 38/54 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding - 17/33 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 - - - - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding - 36/52 - - - - - - - rs3019533,COSV57538075 - 1 - HGNC HGNC:2926 - - - - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000668486.1 protein_coding - 5/6 - - - - - - - rs3019533,COSV57538075 - 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 1755 Transcript NM_001320644.2 protein_coding - 36/52 - - - - - - - rs3019533,COSV57538075 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 1755 Transcript NM_001377530.1 protein_coding - 39/55 - - - - - - - rs3019533,COSV57538075 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 1755 Transcript NM_004406.3 protein_coding - 23/39 - - - - - - - rs3019533,COSV57538075 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 1755 Transcript NM_007329.3 protein_coding - 36/52 - - - - - - - rs3019533,COSV57538075 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617175-122617175 C intron_variant MODIFIER DMBT1 1755 Transcript NM_017579.3 protein_coding - 35/51 - - - - - - - rs3019533,COSV57538075 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - T T - - - 0.1496 - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding - 24/39 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding - 40/55 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding - 36/51 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding - 37/52 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding - 36/51 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding - 24/39 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding - 37/52 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding - 37/52 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding - 37/50 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 12/24 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000663623.1 retained_intron - - - - - - - - - rs2277246,COSV57559504 3926 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding - 39/54 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding - 18/33 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding - 37/52 - - - - - - - rs2277246,COSV57559504 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000668486.1 protein_coding - 6/6 - - - - - - - rs2277246,COSV57559504 - 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 1755 Transcript NM_001320644.2 protein_coding - 37/52 - - - - - - - rs2277246,COSV57559504 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 1755 Transcript NM_001377530.1 protein_coding - 40/55 - - - - - - - rs2277246,COSV57559504 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 1755 Transcript NM_004406.3 protein_coding - 24/39 - - - - - - - rs2277246,COSV57559504 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 1755 Transcript NM_007329.3 protein_coding - 37/52 - - - - - - - rs2277246,COSV57559504 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:122617296-122617296 C intron_variant MODIFIER DMBT1 1755 Transcript NM_017579.3 protein_coding - 36/51 - - - - - - - rs2277246,COSV57559504 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding - 27/39 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding - 43/55 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding - 39/51 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding - 40/52 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding - 39/51 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding - 27/39 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding - 40/52 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding - 40/52 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding - 40/50 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 13/24 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000663623.1 retained_intron - - - - - - - - - rs3740225,COSV57556221 280 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding - 42/54 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding - 21/33 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding - 40/52 - - - - - - - rs3740225,COSV57556221 - 1 - HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A downstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000668486.1 protein_coding - - - - - - - - - rs3740225,COSV57556221 2845 1 cds_start_NF,cds_end_NF HGNC HGNC:2926 - - - - - Ensembl - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 1755 Transcript NM_001320644.2 protein_coding - 40/52 - - - - - - - rs3740225,COSV57556221 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 1755 Transcript NM_001377530.1 protein_coding - 43/55 - - - - - - - rs3740225,COSV57556221 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 1755 Transcript NM_004406.3 protein_coding - 27/39 - - - - - - - rs3740225,COSV57556221 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 1755 Transcript NM_007329.3 protein_coding - 40/52 - - - - - - - rs3740225,COSV57556221 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122620942-122620942 A intron_variant MODIFIER DMBT1 1755 Transcript NM_017579.3 protein_coding - 39/51 - - - - - - - rs3740225,COSV57556221 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - G G - - - 0.1266 - 0,1 0,1 - - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding - 30/39 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding - 46/55 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding - 42/51 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding - 43/52 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding - 42/51 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding - 30/39 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding - 43/52 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding - 43/52 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding - 41/50 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000655774.1 retained_intron - - - - - - - - - rs3013177 85 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding - 15/24 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G upstream_gene_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000663574.1 retained_intron - - - - - - - - - rs3013177 3328 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant,non_coding_transcript_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000663623.1 retained_intron - 3/3 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding - 45/54 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding - 24/33 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding - 43/52 - - - - - - - rs3013177 - 1 - HGNC HGNC:2926 - - - - - Ensembl - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 1755 Transcript NM_001320644.2 protein_coding - 43/52 - - - - - - - rs3013177 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 1755 Transcript NM_001377530.1 protein_coding - 46/55 - - - - - - - rs3013177 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 1755 Transcript NM_004406.3 protein_coding - 30/39 - - - - - - - rs3013177 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 1755 Transcript NM_007329.3 protein_coding - 43/52 - - - - - - - rs3013177 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122629780-122629780 G intron_variant MODIFIER DMBT1 1755 Transcript NM_017579.3 protein_coding - 42/51 - - - - - - - rs3013177 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - C C - - - 0.6190 - - 1 32450446 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000330163.8 protein_coding 40/40 - - - 5227 5121 1707 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000338354.10 protein_coding 56/56 - - - 7409 7392 2464 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 NM_001377530.1 - 1 P4 - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000344338.7 protein_coding 52/52 - - - 7081 6975 2325 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 - - 1 - - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000368909.7 protein_coding 53/53 - - - 7111 7005 2335 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000368955.7 protein_coding 52/52 - - - 7081 6975 2325 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000368956.6 protein_coding 40/40 - - - 5227 5121 1707 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000619379.1 protein_coding 53/53 - - - 7111 7005 2335 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 - - 5 - - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000652446.2 protein_coding 53/53 - - - 7111 7005 2335 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000653442.1 protein_coding 51/51 - - - 6945 6945 2315 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G non_coding_transcript_exon_variant MODIFIER DMBT1 ENSG00000187908 Transcript ENST00000654082.1 retained_intron 4/4 - - - 1735 - - - - rs1052715 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000657942.1 protein_coding 25/25 - - - 3251 3165 1055 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000664692.1 protein_coding 55/55 - - - 7362 7362 2454 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 - - - A2 - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000664974.1 protein_coding 34/34 - - - 4347 4347 1449 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 ENSG00000187908 Transcript ENST00000666315.1 protein_coding 53/53 - - - 7108 7002 2334 P ccA/ccG rs1052715 - 1 - HGNC HGNC:2926 - - - - - Ensembl - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 1755 Transcript NM_001320644.2 protein_coding 53/53 - - - 7019 7002 2334 P ccA/ccG rs1052715 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 1755 Transcript NM_001377530.1 protein_coding 56/56 - - - 7409 7392 2464 P ccA/ccG rs1052715 - 1 - EntrezGene HGNC:2926 ENST00000338354.10 - - - - RefSeq - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 1755 Transcript NM_004406.3 protein_coding 40/40 - - - 5138 5121 1707 P ccA/ccG rs1052715 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 1755 Transcript NM_007329.3 protein_coding 53/53 - - - 7022 7005 2335 P ccA/ccG rs1052715 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122643161-122643161 G synonymous_variant LOW DMBT1 1755 Transcript NM_017579.3 protein_coding 52/52 - - - 6992 6975 2325 P ccA/ccG rs1052715 - 1 - EntrezGene HGNC:2926 - - - - - RefSeq - A A - - - 0.6438 - - - 24223725,16642439 - - - - - . 10:122697936-122697936 T missense_variant MODERATE C10orf120 ENSG00000183559 Transcript ENST00000329446.5 protein_coding 3/3 - - - 861 805 269 A/T Gca/Aca rs2947594 - -1 - HGNC HGNC:25707 NM_001010912.4 - 1 P1 - Ensembl - C C - tolerated(1) benign(0) 0.8077 - - - - - - - - - . 10:122697936-122697936 T intron_variant MODIFIER C10orf120 ENSG00000183559 Transcript ENST00000432000.5 protein_coding - 3/3 - - - - - - - rs2947594 - -1 cds_start_NF HGNC HGNC:25707 - - 3 - - Ensembl - C C - - - 0.8077 - - - - - - - - - . 10:122697936-122697936 T missense_variant MODERATE C10orf120 399814 Transcript NM_001010912.4 protein_coding 3/3 - - - 861 805 269 A/T Gca/Aca rs2947594 - -1 - EntrezGene HGNC:25707 ENST00000329446.5 - - - - RefSeq - C C - tolerated(1) benign(0) 0.8077 - - - - - - - - - . 10:122698390-122698390 T synonymous_variant LOW C10orf120 ENSG00000183559 Transcript ENST00000329446.5 protein_coding 3/3 - - - 407 351 117 P ccG/ccA rs2901343,COSV61491726 - -1 - HGNC HGNC:25707 NM_001010912.4 - 1 P1 - Ensembl - C C - - - 0.4409 - 0,1 0,1 - - - - - - . 10:122698390-122698390 T synonymous_variant LOW C10orf120 ENSG00000183559 Transcript ENST00000432000.5 protein_coding 3/4 - - - 329 330 110 P ccG/ccA rs2901343,COSV61491726 - -1 cds_start_NF HGNC HGNC:25707 - - 3 - - Ensembl - C C - - - 0.4409 - 0,1 0,1 - - - - - - . 10:122698390-122698390 T synonymous_variant LOW C10orf120 399814 Transcript NM_001010912.4 protein_coding 3/3 - - - 407 351 117 P ccG/ccA rs2901343,COSV61491726 - -1 - EntrezGene HGNC:25707 ENST00000329446.5 - - - - RefSeq - C C - - - 0.4409 - 0,1 0,1 - - - - - - . 10:123157722-123157722 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BUB3 ENSG00000154473 Transcript ENST00000368858.9 protein_coding - 3/7 - - - - - - - rs2304550,COSV64364272 - 1 - HGNC HGNC:1151 - - 1 P4 - Ensembl - T T - - - 0.2406 - 0,1 0,1 - - - - - - . 10:123157722-123157722 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BUB3 ENSG00000154473 Transcript ENST00000368859.6 protein_coding - 3/4 - - - - - - - rs2304550,COSV64364272 - 1 - HGNC HGNC:1151 - - 3 - - Ensembl - T T - - - 0.2406 - 0,1 0,1 - - - - - - . 10:123157722-123157722 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BUB3 ENSG00000154473 Transcript ENST00000368865.9 protein_coding - 3/7 - - - - - - - rs2304550,COSV64364272 - 1 - HGNC HGNC:1151 NM_004725.4 - 1 A1 - Ensembl - T T - - - 0.2406 - 0,1 0,1 - - - - - - . 10:123157722-123157722 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BUB3 ENSG00000154473 Transcript ENST00000407911.2 protein_coding - 2/5 - - - - - - - rs2304550,COSV64364272 - 1 cds_end_NF HGNC HGNC:1151 - - 1 - - Ensembl - T T - - - 0.2406 - 0,1 0,1 - - - - - - . 10:123157722-123157722 C upstream_gene_variant MODIFIER BUB3 ENSG00000154473 Transcript ENST00000481952.1 protein_coding_CDS_not_defined - - - - - - - - - rs2304550,COSV64364272 4532 1 - HGNC HGNC:1151 - - 2 - - Ensembl - T T - - - 0.2406 - 0,1 0,1 - - - - - - . 10:123157722-123157722 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BUB3 9184 Transcript NM_001007793.3 protein_coding - 3/7 - - - - - - - rs2304550,COSV64364272 - 1 - EntrezGene HGNC:1151 - - - - - RefSeq - T T - - - 0.2406 - 0,1 0,1 - - - - - - . 10:123157722-123157722 C splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant LOW BUB3 9184 Transcript NM_004725.4 protein_coding - 3/7 - - - - - - - rs2304550,COSV64364272 - 1 - EntrezGene HGNC:1151 ENST00000368865.9 - - - - RefSeq - T T - - - 0.2406 - 0,1 0,1 - - - - - - . 10:123171548-123171548 G downstream_gene_variant MODIFIER BUB3 ENSG00000154473 Transcript ENST00000368865.9 protein_coding - - - - - - - - - rs935460485 1081 1 - HGNC HGNC:1151 NM_004725.4 - 1 A1 - Ensembl - A A - - - - - - - - - - - - - . 10:123171548-123171548 G non_coding_transcript_exon_variant MODIFIER RPS26P39 ENSG00000227586 Transcript ENST00000469206.1 processed_pseudogene 1/1 - - - 328 - - - - rs935460485 - -1 - HGNC HGNC:36958 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:123171548-123171548 G downstream_gene_variant MODIFIER BUB3 9184 Transcript NM_004725.4 protein_coding - - - - - - - - - rs935460485 1081 1 - EntrezGene HGNC:1151 ENST00000368865.9 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:123171554-123171554 C downstream_gene_variant MODIFIER BUB3 ENSG00000154473 Transcript ENST00000368865.9 protein_coding - - - - - - - - - - 1087 1 - HGNC HGNC:1151 NM_004725.4 - 1 A1 - Ensembl - G G - - - - - - - - - - - - - . 10:123171554-123171554 C non_coding_transcript_exon_variant MODIFIER RPS26P39 ENSG00000227586 Transcript ENST00000469206.1 processed_pseudogene 1/1 - - - 322 - - - - - - -1 - HGNC HGNC:36958 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:123171554-123171554 C downstream_gene_variant MODIFIER BUB3 9184 Transcript NM_004725.4 protein_coding - - - - - - - - - - 1087 1 - EntrezGene HGNC:1151 ENST00000368865.9 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:123171615-123171615 G downstream_gene_variant MODIFIER BUB3 ENSG00000154473 Transcript ENST00000368865.9 protein_coding - - - - - - - - - rs148418465 1148 1 - HGNC HGNC:1151 NM_004725.4 - 1 A1 - Ensembl - A A - - - - - - - - - - - - - . 10:123171615-123171615 G non_coding_transcript_exon_variant MODIFIER RPS26P39 ENSG00000227586 Transcript ENST00000469206.1 processed_pseudogene 1/1 - - - 261 - - - - rs148418465 - -1 - HGNC HGNC:36958 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:123171615-123171615 G downstream_gene_variant MODIFIER BUB3 9184 Transcript NM_004725.4 protein_coding - - - - - - - - - rs148418465 1148 1 - EntrezGene HGNC:1151 ENST00000368865.9 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:123171620-123171620 C downstream_gene_variant MODIFIER BUB3 ENSG00000154473 Transcript ENST00000368865.9 protein_coding - - - - - - - - - rs1182312976 1153 1 - HGNC HGNC:1151 NM_004725.4 - 1 A1 - Ensembl - T T - - - - - - - - - - - - - . 10:123171620-123171620 C non_coding_transcript_exon_variant MODIFIER RPS26P39 ENSG00000227586 Transcript ENST00000469206.1 processed_pseudogene 1/1 - - - 256 - - - - rs1182312976 - -1 - HGNC HGNC:36958 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:123171620-123171620 C downstream_gene_variant MODIFIER BUB3 9184 Transcript NM_004725.4 protein_coding - - - - - - - - - rs1182312976 1153 1 - EntrezGene HGNC:1151 ENST00000368865.9 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:123171638-123171638 C downstream_gene_variant MODIFIER BUB3 ENSG00000154473 Transcript ENST00000368865.9 protein_coding - - - - - - - - - rs1018295492 1171 1 - HGNC HGNC:1151 NM_004725.4 - 1 A1 - Ensembl - T T - - - - - - - - - - - - - . 10:123171638-123171638 C non_coding_transcript_exon_variant MODIFIER RPS26P39 ENSG00000227586 Transcript ENST00000469206.1 processed_pseudogene 1/1 - - - 238 - - - - rs1018295492 - -1 - HGNC HGNC:36958 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:123171638-123171638 C downstream_gene_variant MODIFIER BUB3 9184 Transcript NM_004725.4 protein_coding - - - - - - - - - rs1018295492 1171 1 - EntrezGene HGNC:1151 ENST00000368865.9 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:123171708-123171708 C downstream_gene_variant MODIFIER BUB3 ENSG00000154473 Transcript ENST00000368865.9 protein_coding - - - - - - - - - - 1241 1 - HGNC HGNC:1151 NM_004725.4 - 1 A1 - Ensembl - T T - - - - - - - - - - - - - . 10:123171708-123171708 C non_coding_transcript_exon_variant MODIFIER RPS26P39 ENSG00000227586 Transcript ENST00000469206.1 processed_pseudogene 1/1 - - - 168 - - - - - - -1 - HGNC HGNC:36958 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:123171708-123171708 C downstream_gene_variant MODIFIER BUB3 9184 Transcript NM_004725.4 protein_coding - - - - - - - - - - 1241 1 - EntrezGene HGNC:1151 ENST00000368865.9 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:123171711-123171711 T downstream_gene_variant MODIFIER BUB3 ENSG00000154473 Transcript ENST00000368865.9 protein_coding - - - - - - - - - - 1244 1 - HGNC HGNC:1151 NM_004725.4 - 1 A1 - Ensembl - C C - - - - - - - - - - - - - . 10:123171711-123171711 T non_coding_transcript_exon_variant MODIFIER RPS26P39 ENSG00000227586 Transcript ENST00000469206.1 processed_pseudogene 1/1 - - - 165 - - - - - - -1 - HGNC HGNC:36958 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:123171711-123171711 T downstream_gene_variant MODIFIER BUB3 9184 Transcript NM_004725.4 protein_coding - - - - - - - - - - 1244 1 - EntrezGene HGNC:1151 ENST00000368865.9 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:123171797-123171797 C downstream_gene_variant MODIFIER BUB3 ENSG00000154473 Transcript ENST00000368865.9 protein_coding - - - - - - - - - - 1330 1 - HGNC HGNC:1151 NM_004725.4 - 1 A1 - Ensembl - T T - - - - - - - - - - - - - . 10:123171797-123171797 C non_coding_transcript_exon_variant MODIFIER RPS26P39 ENSG00000227586 Transcript ENST00000469206.1 processed_pseudogene 1/1 - - - 79 - - - - - - -1 - HGNC HGNC:36958 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:123171797-123171797 C downstream_gene_variant MODIFIER BUB3 9184 Transcript NM_004725.4 protein_coding - - - - - - - - - - 1330 1 - EntrezGene HGNC:1151 ENST00000368865.9 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:124400865-124400865 A synonymous_variant LOW OAT ENSG00000065154 Transcript ENST00000368845.6 protein_coding 9/10 - - - 1214 1134 378 N aaC/aaT rs11461,COSV64347688 - -1 - HGNC HGNC:8091 NM_000274.4 - 1 P1 - Ensembl - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A downstream_gene_variant MODIFIER OAT ENSG00000065154 Transcript ENST00000467675.5 protein_coding_CDS_not_defined - - - - - - - - - rs11461,COSV64347688 866 -1 - HGNC HGNC:8091 - - 5 - - Ensembl - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A non_coding_transcript_exon_variant MODIFIER OAT ENSG00000065154 Transcript ENST00000471127.1 protein_coding_CDS_not_defined 3/4 - - - 644 - - - - rs11461,COSV64347688 - -1 - HGNC HGNC:8091 - - 2 - - Ensembl - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A downstream_gene_variant MODIFIER OAT ENSG00000065154 Transcript ENST00000483711.1 protein_coding_CDS_not_defined - - - - - - - - - rs11461,COSV64347688 2980 -1 - HGNC HGNC:8091 - - 5 - - Ensembl - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A synonymous_variant LOW OAT ENSG00000065154 Transcript ENST00000539214.5 protein_coding 8/9 - - - 1039 720 240 N aaC/aaT rs11461,COSV64347688 - -1 - HGNC HGNC:8091 - - 1 - - Ensembl - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A synonymous_variant LOW OAT 4942 Transcript NM_000274.4 protein_coding 9/10 - - - 1214 1134 378 N aaC/aaT rs11461,COSV64347688 - -1 - EntrezGene HGNC:8091 ENST00000368845.6 - - - - RefSeq - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A synonymous_variant LOW OAT 4942 Transcript NM_001171814.2 protein_coding 8/9 - - - 986 720 240 N aaC/aaT rs11461,COSV64347688 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A synonymous_variant LOW OAT 4942 Transcript NM_001322965.2 protein_coding 9/10 - - - 1209 1134 378 N aaC/aaT rs11461,COSV64347688 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A synonymous_variant LOW OAT 4942 Transcript NM_001322966.2 protein_coding 10/11 - - - 1529 1134 378 N aaC/aaT rs11461,COSV64347688 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A synonymous_variant LOW OAT 4942 Transcript NM_001322967.2 protein_coding 10/11 - - - 1334 1134 378 N aaC/aaT rs11461,COSV64347688 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A synonymous_variant LOW OAT 4942 Transcript NM_001322968.2 protein_coding 11/12 - - - 1421 1134 378 N aaC/aaT rs11461,COSV64347688 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A synonymous_variant LOW OAT 4942 Transcript NM_001322969.2 protein_coding 10/11 - - - 1301 1134 378 N aaC/aaT rs11461,COSV64347688 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A synonymous_variant LOW OAT 4942 Transcript NM_001322970.2 protein_coding 11/12 - - - 1517 1134 378 N aaC/aaT rs11461,COSV64347688 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A synonymous_variant LOW OAT 4942 Transcript NM_001322971.2 protein_coding 7/8 - - - 893 813 271 N aaC/aaT rs11461,COSV64347688 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124400865-124400865 A synonymous_variant LOW OAT 4942 Transcript NM_001322974.2 protein_coding 9/10 - - - 1100 534 178 N aaC/aaT rs11461,COSV64347688 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.4099 benign 0,1 1,1 3339136,22182799 - - - - - . 10:124411954-124411954 A intron_variant MODIFIER OAT ENSG00000065154 Transcript ENST00000368845.6 protein_coding - 2/9 - - - - - - - rs10794058,COSV64347512 - -1 - HGNC HGNC:8091 NM_000274.4 - 1 P1 - Ensembl - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A upstream_gene_variant MODIFIER OAT ENSG00000065154 Transcript ENST00000467675.5 protein_coding_CDS_not_defined - - - - - - - - - rs10794058,COSV64347512 3163 -1 - HGNC HGNC:8091 - - 5 - - Ensembl - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant,non_coding_transcript_variant MODIFIER OAT ENSG00000065154 Transcript ENST00000476917.5 protein_coding_CDS_not_defined - 2/4 - - - - - - - rs10794058,COSV64347512 - -1 - HGNC HGNC:8091 - - 3 - - Ensembl - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant,non_coding_transcript_variant MODIFIER OAT ENSG00000065154 Transcript ENST00000490096.5 protein_coding_CDS_not_defined - 3/3 - - - - - - - rs10794058,COSV64347512 - -1 - HGNC HGNC:8091 - - 5 - - Ensembl - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant,non_coding_transcript_variant MODIFIER OAT ENSG00000065154 Transcript ENST00000492376.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs10794058,COSV64347512 - -1 - HGNC HGNC:8091 - - 3 - - Ensembl - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant MODIFIER OAT ENSG00000065154 Transcript ENST00000539214.5 protein_coding - 1/8 - - - - - - - rs10794058,COSV64347512 - -1 - HGNC HGNC:8091 - - 1 - - Ensembl - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant MODIFIER OAT 4942 Transcript NM_000274.4 protein_coding - 2/9 - - - - - - - rs10794058,COSV64347512 - -1 - EntrezGene HGNC:8091 ENST00000368845.6 - - - - RefSeq - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant MODIFIER OAT 4942 Transcript NM_001171814.2 protein_coding - 1/8 - - - - - - - rs10794058,COSV64347512 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant MODIFIER OAT 4942 Transcript NM_001322965.2 protein_coding - 2/9 - - - - - - - rs10794058,COSV64347512 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant MODIFIER OAT 4942 Transcript NM_001322966.2 protein_coding - 3/10 - - - - - - - rs10794058,COSV64347512 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant MODIFIER OAT 4942 Transcript NM_001322967.2 protein_coding - 3/10 - - - - - - - rs10794058,COSV64347512 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant MODIFIER OAT 4942 Transcript NM_001322968.2 protein_coding - 4/11 - - - - - - - rs10794058,COSV64347512 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant MODIFIER OAT 4942 Transcript NM_001322969.2 protein_coding - 3/10 - - - - - - - rs10794058,COSV64347512 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant MODIFIER OAT 4942 Transcript NM_001322970.2 protein_coding - 4/11 - - - - - - - rs10794058,COSV64347512 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant MODIFIER OAT 4942 Transcript NM_001322971.2 protein_coding - 2/7 - - - - - - - rs10794058,COSV64347512 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124411954-124411954 A intron_variant MODIFIER OAT 4942 Transcript NM_001322974.2 protein_coding - 1/9 - - - - - - - rs10794058,COSV64347512 - -1 - EntrezGene HGNC:8091 - - - - - RefSeq - G G - - - 0.2546 benign 0,1 1,1 - - - - - - . 10:124829420-124829420 A synonymous_variant LOW ABRAXAS2 ENSG00000165660 Transcript ENST00000298492.6 protein_coding 7/9 - - - 617 606 202 V gtG/gtA rs2303611,COSV53717012 - 1 - HGNC HGNC:28975 NM_032182.4 - 1 P1 - Ensembl - G G - - - 0.4830 - 0,1 1,1 16642439,31790847,30279459,36109823 - - - - - . 10:124829420-124829420 A synonymous_variant LOW ABRAXAS2 23172 Transcript NM_032182.4 protein_coding 7/9 - - - 617 606 202 V gtG/gtA rs2303611,COSV53717012 - 1 - EntrezGene HGNC:28975 ENST00000298492.6 - - - - RefSeq - G G - - - 0.4830 - 0,1 1,1 16642439,31790847,30279459,36109823 - - - - - . 10:124829420-124829420 A synonymous_variant LOW ABRAXAS2 23172 Transcript XM_047424888.1 protein_coding 6/8 - - - 808 294 98 V gtG/gtA rs2303611,COSV53717012 - 1 - EntrezGene HGNC:28975 - - - - - RefSeq - G G - - - 0.4830 - 0,1 1,1 16642439,31790847,30279459,36109823 - - - - - . 10:124829420-124829420 A synonymous_variant LOW ABRAXAS2 23172 Transcript XM_047424889.1 protein_coding 4/6 - - - 363 294 98 V gtG/gtA rs2303611,COSV53717012 - 1 - EntrezGene HGNC:28975 - - - - - RefSeq - G G - - - 0.4830 - 0,1 1,1 16642439,31790847,30279459,36109823 - - - - - . 10:124829420-124829420 A synonymous_variant LOW ABRAXAS2 23172 Transcript XM_047424891.1 protein_coding 4/6 - - - 360 294 98 V gtG/gtA rs2303611,COSV53717012 - 1 - EntrezGene HGNC:28975 - - - - - RefSeq - G G - - - 0.4830 - 0,1 1,1 16642439,31790847,30279459,36109823 - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 ENSG00000175029 Transcript ENST00000309035.11 protein_coding 9/9 - - - 3239 2927 976 G/V gGg/gTg - - -1 - HGNC HGNC:2495 NM_022802.3 - 1 - - Ensembl - C C - deleterious_low_confidence(0.01) probably_damaging(0.95) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 ENSG00000175029 Transcript ENST00000334808.10 protein_coding 9/9 - - - 1716 1511 504 G/V gGg/gTg - - -1 - HGNC HGNC:2495 - - 1 - - Ensembl - C C - deleterious_low_confidence(0) benign(0.203) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 ENSG00000175029 Transcript ENST00000337195.10 protein_coding 11/11 - - - 1757 1307 436 G/V gGg/gTg - - -1 - HGNC HGNC:2495 - - 1 P1 - Ensembl - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A downstream_gene_variant MODIFIER ZRANB1 ENSG00000019995 Transcript ENST00000359653.4 protein_coding - - - - - - - - - - 1360 1 - HGNC HGNC:18224 NM_017580.3 - 1 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:124989549-124989549 A downstream_gene_variant MODIFIER CTBP2 ENSG00000175029 Transcript ENST00000395705.3 nonsense_mediated_decay - - - - - - - - - - 3718 -1 cds_start_NF HGNC HGNC:2495 - - 3 - - Ensembl - C C - - - - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 ENSG00000175029 Transcript ENST00000411419.7 protein_coding 11/11 - - - 1716 1307 436 G/V gGg/gTg - - -1 - HGNC HGNC:2495 - - 1 P1 - Ensembl - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 ENSG00000175029 Transcript ENST00000494626.6 protein_coding 11/11 - - - 1690 1307 436 G/V gGg/gTg - - -1 - HGNC HGNC:2495 - - 1 P1 - Ensembl - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 ENSG00000175029 Transcript ENST00000531469.5 protein_coding 11/11 - - - 1594 1307 436 G/V gGg/gTg - - -1 - HGNC HGNC:2495 - - 2 P1 - Ensembl - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript NM_001083914.3 protein_coding 11/11 - - - 1716 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript NM_001290214.3 protein_coding 11/11 - - - 1754 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript NM_001290215.3 protein_coding 11/11 - - - 1655 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript NM_001321012.2 protein_coding 11/11 - - - 1613 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript NM_001321013.2 protein_coding 10/10 - - - 1551 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript NM_001321014.2 protein_coding 11/11 - - - 1652 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript NM_001329.4 protein_coding 11/11 - - - 1757 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript NM_001363508.2 protein_coding 9/9 - - - 1721 1511 504 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0) benign(0.203) - - - - - - - - - - . 10:124989549-124989549 A downstream_gene_variant MODIFIER ZRANB1 54764 Transcript NM_017580.3 protein_coding - - - - - - - - - - 1360 1 - EntrezGene HGNC:18224 ENST00000359653.4 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript NM_022802.3 protein_coding 9/9 - - - 3239 2927 976 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 ENST00000309035.11 - - - - RefSeq - C C - deleterious_low_confidence(0.01) probably_damaging(0.95) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_005269567.4 protein_coding 12/12 - - - 1784 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A downstream_gene_variant MODIFIER ZRANB1 54764 Transcript XM_006717907.3 protein_coding - - - - - - - - - - 1360 1 - EntrezGene HGNC:18224 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_011539355.3 protein_coding 11/11 - - - 1680 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_011539358.3 protein_coding 10/10 - - - 1496 1232 411 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_024447830.2 protein_coding 10/10 - - - 1509 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424664.1 protein_coding 13/13 - - - 1885 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424665.1 protein_coding 11/11 - - - 1610 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424666.1 protein_coding 10/10 - - - 1469 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424667.1 protein_coding 13/13 - - - 1996 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424668.1 protein_coding 12/12 - - - 1756 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424669.1 protein_coding 12/12 - - - 1717 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424670.1 protein_coding 12/12 - - - 1702 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424671.1 protein_coding 12/12 - - - 1777 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424672.1 protein_coding 13/13 - - - 1987 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424673.1 protein_coding 13/13 - - - 1928 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424674.1 protein_coding 12/12 - - - 1742 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424675.1 protein_coding 13/13 - - - 2098 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424676.1 protein_coding 12/12 - - - 1827 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424677.1 protein_coding 10/10 - - - 1653 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424678.1 protein_coding 10/10 - - - 1427 1307 436 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - deleterious_low_confidence(0.01) benign(0.1) - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424679.1 protein_coding 9/9 - - - 1494 1232 411 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:124989549-124989549 A missense_variant MODERATE CTBP2 1488 Transcript XM_047424680.1 protein_coding 9/9 - - - 1325 1232 411 G/V gGg/gTg - - -1 - EntrezGene HGNC:2495 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:124989549-124989549 A downstream_gene_variant MODIFIER ZRANB1 54764 Transcript XM_047425383.1 protein_coding - - - - - - - - - - 1360 1 - EntrezGene HGNC:18224 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:124989549-124989549 A downstream_gene_variant MODIFIER ZRANB1 54764 Transcript XM_047425384.1 protein_coding - - - - - - - - - - 1360 1 - EntrezGene HGNC:18224 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:124989549-124989549 A downstream_gene_variant MODIFIER ZRANB1 54764 Transcript XM_047425385.1 protein_coding - - - - - - - - - - 1360 1 - EntrezGene HGNC:18224 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:124989549-124989549 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00001182270 enhancer - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:125738019-125738019 A intron_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000337623.7 protein_coding - 13/23 - - - - - - - rs3740180 - 1 - HGNC HGNC:24640 - - 5 A2 - Ensembl - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000356792.9 protein_coding - 14/24 - - - - - - - rs3740180 - 1 - HGNC HGNC:24640 NM_001202438.2 - 1 P3 - Ensembl - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000368813.1 protein_coding - 2/4 - - - - - - - rs3740180 - 1 cds_start_NF HGNC HGNC:24640 - - 2 - - Ensembl - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000368815.6 nonsense_mediated_decay - 14/24 - - - - - - - rs3740180 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000419769.6 nonsense_mediated_decay - 14/25 - - - - - - - rs3740180 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000481600.5 nonsense_mediated_decay - 14/25 - - - - - - - rs3740180 - 1 - HGNC HGNC:24640 - - 2 - - Ensembl - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant,non_coding_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000525091.5 retained_intron - 13/19 - - - - - - - rs3740180 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A downstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000530795.1 nonsense_mediated_decay - - - - - - - - - rs3740180 2270 1 cds_start_NF HGNC HGNC:24640 - - 5 - - Ensembl - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000627990.2 lncRNA - 2/2 - - - - - - - rs3740180 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000630227.2 lncRNA - 1/1 - - - - - - - rs3740180 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant MODIFIER EDRF1 26098 Transcript NM_001202438.2 protein_coding - 14/24 - - - - - - - rs3740180 - 1 - EntrezGene HGNC:24640 ENST00000356792.9 - - - - RefSeq - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant MODIFIER EDRF1 26098 Transcript NM_015608.3 protein_coding - 13/23 - - - - - - - rs3740180 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant,non_coding_transcript_variant MODIFIER EDRF1 26098 Transcript NR_110857.2 misc_RNA - 14/24 - - - - - - - rs3740180 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant,non_coding_transcript_variant MODIFIER EDRF1 26098 Transcript NR_110858.2 misc_RNA - 14/25 - - - - - - - rs3740180 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant,non_coding_transcript_variant MODIFIER EDRF1 26098 Transcript NR_110859.2 misc_RNA - 14/25 - - - - - - - rs3740180 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant MODIFIER EDRF1 26098 Transcript XM_011539622.2 protein_coding - 7/17 - - - - - - - rs3740180 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant MODIFIER EDRF1 26098 Transcript XM_047425035.1 protein_coding - 14/20 - - - - - - - rs3740180 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant MODIFIER EDRF1 26098 Transcript XM_047425036.1 protein_coding - 14/18 - - - - - - - rs3740180 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant MODIFIER EDRF1 26098 Transcript XM_047425037.1 protein_coding - 13/17 - - - - - - - rs3740180 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant MODIFIER EDRF1 26098 Transcript XM_047425039.1 protein_coding - 14/17 - - - - - - - rs3740180 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - C C - - - 0.7372 - - - - - - - - - . 10:125738019-125738019 A intron_variant MODIFIER EDRF1 26098 Transcript XM_047425040.1 protein_coding - 13/16 - - - - - - - rs3740180 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - C C - - - 0.7372 - - - - - - - - - . 10:125738266-125738266 T intron_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000337623.7 protein_coding - 13/23 - - - - - - - rs3943225 - 1 - HGNC HGNC:24640 - - 5 A2 - Ensembl - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000356792.9 protein_coding - 14/24 - - - - - - - rs3943225 - 1 - HGNC HGNC:24640 NM_001202438.2 - 1 P3 - Ensembl - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000368813.1 protein_coding - 2/4 - - - - - - - rs3943225 - 1 cds_start_NF HGNC HGNC:24640 - - 2 - - Ensembl - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000368815.6 nonsense_mediated_decay - 14/24 - - - - - - - rs3943225 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000419769.6 nonsense_mediated_decay - 14/25 - - - - - - - rs3943225 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000481600.5 nonsense_mediated_decay - 14/25 - - - - - - - rs3943225 - 1 - HGNC HGNC:24640 - - 2 - - Ensembl - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant,non_coding_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000525091.5 retained_intron - 13/19 - - - - - - - rs3943225 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T downstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000530795.1 nonsense_mediated_decay - - - - - - - - - rs3943225 2517 1 cds_start_NF HGNC HGNC:24640 - - 5 - - Ensembl - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000627990.2 lncRNA - 2/2 - - - - - - - rs3943225 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000630227.2 lncRNA - 1/1 - - - - - - - rs3943225 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant MODIFIER EDRF1 26098 Transcript NM_001202438.2 protein_coding - 14/24 - - - - - - - rs3943225 - 1 - EntrezGene HGNC:24640 ENST00000356792.9 - - - - RefSeq - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant MODIFIER EDRF1 26098 Transcript NM_015608.3 protein_coding - 13/23 - - - - - - - rs3943225 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant,non_coding_transcript_variant MODIFIER EDRF1 26098 Transcript NR_110857.2 misc_RNA - 14/24 - - - - - - - rs3943225 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant,non_coding_transcript_variant MODIFIER EDRF1 26098 Transcript NR_110858.2 misc_RNA - 14/25 - - - - - - - rs3943225 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant,non_coding_transcript_variant MODIFIER EDRF1 26098 Transcript NR_110859.2 misc_RNA - 14/25 - - - - - - - rs3943225 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant MODIFIER EDRF1 26098 Transcript XM_011539622.2 protein_coding - 7/17 - - - - - - - rs3943225 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant MODIFIER EDRF1 26098 Transcript XM_047425035.1 protein_coding - 14/20 - - - - - - - rs3943225 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant MODIFIER EDRF1 26098 Transcript XM_047425036.1 protein_coding - 14/18 - - - - - - - rs3943225 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant MODIFIER EDRF1 26098 Transcript XM_047425037.1 protein_coding - 13/17 - - - - - - - rs3943225 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant MODIFIER EDRF1 26098 Transcript XM_047425039.1 protein_coding - 14/17 - - - - - - - rs3943225 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T intron_variant MODIFIER EDRF1 26098 Transcript XM_047425040.1 protein_coding - 13/16 - - - - - - - rs3943225 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.8760 - - - - - - - - - . 10:125738266-125738266 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419072 open_chromatin_region - - - - - - - - - rs3943225 - - - - - - - - - - - - - - - - - 0.8760 - - - - - - - - - . 10:125747842-125747842 C intron_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000337623.7 protein_coding - 19/23 - - - - - - - rs2296832,COSV61763588 - 1 - HGNC HGNC:24640 - - 5 A2 - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000356792.9 protein_coding - 20/24 - - - - - - - rs2296832,COSV61763588 - 1 - HGNC HGNC:24640 NM_001202438.2 - 1 P3 - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C upstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000368812.1 retained_intron - - - - - - - - - rs2296832,COSV61763588 1455 1 - HGNC HGNC:24640 - - 1 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000368815.6 nonsense_mediated_decay - 20/24 - - - - - - - rs2296832,COSV61763588 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000419769.6 nonsense_mediated_decay - 21/25 - - - - - - - rs2296832,COSV61763588 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000449436.5 lncRNA - 2/3 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 3 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000469725.1 retained_intron - 1/2 - - - - - - - rs2296832,COSV61763588 - 1 - HGNC HGNC:24640 - - 2 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000481600.5 nonsense_mediated_decay - 20/25 - - - - - - - rs2296832,COSV61763588 - 1 - HGNC HGNC:24640 - - 2 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000525091.5 retained_intron - 19/19 - - - - - - - rs2296832,COSV61763588 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C upstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000525524.1 retained_intron - - - - - - - - - rs2296832,COSV61763588 111 1 - HGNC HGNC:24640 - - 2 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C upstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000527655.5 retained_intron - - - - - - - - - rs2296832,COSV61763588 1431 1 - HGNC HGNC:24640 - - 3 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000593871.5 lncRNA - 2/2 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000594025.5 lncRNA - 2/3 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 3 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000600784.5 lncRNA - 2/3 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C downstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000601363.1 lncRNA - - - - - - - - - rs2296832,COSV61763588 973 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000602030.5 lncRNA - 3/4 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000610534.4 lncRNA - 3/4 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000612306.4 lncRNA - 2/3 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000612420.4 lncRNA - 2/3 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000613304.4 lncRNA - 3/4 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000615461.4 lncRNA - 3/4 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000615795.4 lncRNA - 2/3 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000621717.4 lncRNA - 3/4 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000622798.4 lncRNA - 3/4 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000627990.2 lncRNA - 1/2 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000630227.2 lncRNA - 1/1 - - - - - - - rs2296832,COSV61763588 - -1 - HGNC HGNC:49501 - - 5 - - Ensembl - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant MODIFIER EDRF1 26098 Transcript NM_001202438.2 protein_coding - 20/24 - - - - - - - rs2296832,COSV61763588 - 1 - EntrezGene HGNC:24640 ENST00000356792.9 - - - - RefSeq - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant MODIFIER EDRF1 26098 Transcript NM_015608.3 protein_coding - 19/23 - - - - - - - rs2296832,COSV61763588 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1 26098 Transcript NR_110857.2 misc_RNA - 20/24 - - - - - - - rs2296832,COSV61763588 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1 26098 Transcript NR_110858.2 misc_RNA - 21/25 - - - - - - - rs2296832,COSV61763588 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1 26098 Transcript NR_110859.2 misc_RNA - 20/25 - - - - - - - rs2296832,COSV61763588 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant,non_coding_transcript_variant MODIFIER EDRF1-AS1 101927983 Transcript NR_120633.1 lncRNA - 3/4 - - - - - - - rs2296832,COSV61763588 - -1 - EntrezGene HGNC:49501 - - - - - RefSeq - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C intron_variant MODIFIER EDRF1 26098 Transcript XM_011539622.2 protein_coding - 13/17 - - - - - - - rs2296832,COSV61763588 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C splice_polypyrimidine_tract_variant,intron_variant LOW EDRF1 26098 Transcript XM_047425035.1 protein_coding - 20/20 - - - - - - - rs2296832,COSV61763588 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C downstream_gene_variant MODIFIER EDRF1 26098 Transcript XM_047425036.1 protein_coding - - - - - - - - - rs2296832,COSV61763588 1912 1 - EntrezGene HGNC:24640 - - - - - RefSeq - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C downstream_gene_variant MODIFIER EDRF1 26098 Transcript XM_047425037.1 protein_coding - - - - - - - - - rs2296832,COSV61763588 1912 1 - EntrezGene HGNC:24640 - - - - - RefSeq - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C downstream_gene_variant MODIFIER EDRF1 26098 Transcript XM_047425039.1 protein_coding - - - - - - - - - rs2296832,COSV61763588 4928 1 - EntrezGene HGNC:24640 - - - - - RefSeq - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125747842-125747842 C downstream_gene_variant MODIFIER EDRF1 26098 Transcript XM_047425040.1 protein_coding - - - - - - - - - rs2296832,COSV61763588 4928 1 - EntrezGene HGNC:24640 - - - - - RefSeq - T T - - - 0.7001 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A missense_variant MODERATE EDRF1 ENSG00000107938 Transcript ENST00000337623.7 protein_coding 22/24 - - - 3352 3247 1083 A/T Gca/Aca rs17153510,COSV61762921 - 1 - HGNC HGNC:24640 - - 5 A2 - Ensembl - G G - deleterious_low_confidence(0) possibly_damaging(0.453) 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A missense_variant MODERATE EDRF1 ENSG00000107938 Transcript ENST00000356792.9 protein_coding 23/25 - - - 3448 3349 1117 A/T Gca/Aca rs17153510,COSV61762921 - 1 - HGNC HGNC:24640 NM_001202438.2 - 1 P3 - Ensembl - G G - deleterious_low_confidence(0) possibly_damaging(0.55) 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A non_coding_transcript_exon_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000368812.1 retained_intron 2/4 - - - 341 - - - - rs17153510,COSV61762921 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000368815.6 nonsense_mediated_decay 23/25 - - - 3576 - - - - rs17153510,COSV61762921 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000419769.6 nonsense_mediated_decay 24/26 - - - 3768 - - - - rs17153510,COSV61762921 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000449436.5 lncRNA - - - - - - - - - rs17153510,COSV61762921 2404 -1 - HGNC HGNC:49501 - - 3 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A downstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000469725.1 retained_intron - - - - - - - - - rs17153510,COSV61762921 3429 1 - HGNC HGNC:24640 - - 2 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A 3_prime_UTR_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000481600.5 nonsense_mediated_decay 23/26 - - - 3658 - - - - rs17153510,COSV61762921 - 1 - HGNC HGNC:24640 - - 2 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A downstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000525091.5 retained_intron - - - - - - - - - rs17153510,COSV61762921 3774 1 - HGNC HGNC:24640 - - 1 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000525358.1 nonsense_mediated_decay - - - - - - - - - rs17153510,COSV61762921 909 1 cds_start_NF HGNC HGNC:24640 - - 3 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A downstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000525524.1 retained_intron - - - - - - - - - rs17153510,COSV61762921 3057 1 - HGNC HGNC:24640 - - 2 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A intron_variant,non_coding_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000527655.5 retained_intron - 1/2 - - - - - - - rs17153510,COSV61762921 - 1 - HGNC HGNC:24640 - - 3 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000593871.5 lncRNA - - - - - - - - - rs17153510,COSV61762921 805 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000594025.5 lncRNA - - - - - - - - - rs17153510,COSV61762921 760 -1 - HGNC HGNC:49501 - - 3 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000600784.5 lncRNA - - - - - - - - - rs17153510,COSV61762921 2388 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000601363.1 lncRNA - - - - - - - - - rs17153510,COSV61762921 796 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000602030.5 lncRNA - - - - - - - - - rs17153510,COSV61762921 769 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000610534.4 lncRNA - - - - - - - - - rs17153510,COSV61762921 792 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000612306.4 lncRNA - - - - - - - - - rs17153510,COSV61762921 795 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000612420.4 lncRNA - - - - - - - - - rs17153510,COSV61762921 797 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000613304.4 lncRNA - - - - - - - - - rs17153510,COSV61762921 796 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000615461.4 lncRNA - - - - - - - - - rs17153510,COSV61762921 798 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000615795.4 lncRNA - - - - - - - - - rs17153510,COSV61762921 798 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000621717.4 lncRNA - - - - - - - - - rs17153510,COSV61762921 797 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000622798.4 lncRNA - - - - - - - - - rs17153510,COSV61762921 797 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000627990.2 lncRNA - - - - - - - - - rs17153510,COSV61762921 3345 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000630227.2 lncRNA - - - - - - - - - rs17153510,COSV61762921 3345 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A downstream_gene_variant MODIFIER MMP21 ENSG00000154485 Transcript ENST00000651834.1 nonsense_mediated_decay - - - - - - - - - rs17153510,COSV61762921 710 -1 cds_start_NF HGNC HGNC:14357 - - - - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A downstream_gene_variant MODIFIER MMP21 ENSG00000154485 Transcript ENST00000651977.1 protein_coding - - - - - - - - - rs17153510,COSV61762921 4639 -1 cds_start_NF HGNC HGNC:14357 - - - - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A downstream_gene_variant MODIFIER MMP21 ENSG00000154485 Transcript ENST00000652044.1 protein_coding - - - - - - - - - rs17153510,COSV61762921 4639 -1 cds_start_NF HGNC HGNC:14357 - - - - - Ensembl - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A missense_variant MODERATE EDRF1 26098 Transcript NM_001202438.2 protein_coding 23/25 - - - 3448 3349 1117 A/T Gca/Aca rs17153510,COSV61762921 - 1 - EntrezGene HGNC:24640 ENST00000356792.9 - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.55) 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A missense_variant MODERATE EDRF1 26098 Transcript NM_015608.3 protein_coding 22/24 - - - 3346 3247 1083 A/T Gca/Aca rs17153510,COSV61762921 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - deleterious_low_confidence(0) possibly_damaging(0.453) 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A non_coding_transcript_exon_variant MODIFIER EDRF1 26098 Transcript NR_110857.2 misc_RNA 23/25 - - - 3443 - - - - rs17153510,COSV61762921 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A non_coding_transcript_exon_variant MODIFIER EDRF1 26098 Transcript NR_110858.2 misc_RNA 24/26 - - - 3574 - - - - rs17153510,COSV61762921 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A non_coding_transcript_exon_variant MODIFIER EDRF1 26098 Transcript NR_110859.2 misc_RNA 23/26 - - - 3464 - - - - rs17153510,COSV61762921 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A upstream_gene_variant MODIFIER EDRF1-AS1 101927983 Transcript NR_120633.1 lncRNA - - - - - - - - - rs17153510,COSV61762921 810 -1 - EntrezGene HGNC:49501 - - - - - RefSeq - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A missense_variant MODERATE EDRF1 26098 Transcript XM_011539622.2 protein_coding 16/18 - - - 2390 2296 766 A/T Gca/Aca rs17153510,COSV61762921 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125752870-125752870 A downstream_gene_variant MODIFIER EDRF1 26098 Transcript XM_047425035.1 protein_coding - - - - - - - - - rs17153510,COSV61762921 4887 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.0827 - 0,1 0,1 - - - - - - . 10:125753004-125753004 T intron_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000337623.7 protein_coding - 22/23 - - - - - - - rs10751530 - 1 - HGNC HGNC:24640 - - 5 A2 - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T intron_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000356792.9 protein_coding - 23/24 - - - - - - - rs10751530 - 1 - HGNC HGNC:24640 NM_001202438.2 - 1 P3 - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T intron_variant,non_coding_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000368812.1 retained_intron - 2/3 - - - - - - - rs10751530 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T intron_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000368815.6 nonsense_mediated_decay - 23/24 - - - - - - - rs10751530 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T intron_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000419769.6 nonsense_mediated_decay - 24/25 - - - - - - - rs10751530 - 1 - HGNC HGNC:24640 - - 1 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000449436.5 lncRNA - - - - - - - - - rs10751530 2538 -1 - HGNC HGNC:49501 - - 3 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T downstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000469725.1 retained_intron - - - - - - - - - rs10751530 3563 1 - HGNC HGNC:24640 - - 2 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T intron_variant,NMD_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000481600.5 nonsense_mediated_decay - 23/25 - - - - - - - rs10751530 - 1 - HGNC HGNC:24640 - - 2 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T downstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000525091.5 retained_intron - - - - - - - - - rs10751530 3908 1 - HGNC HGNC:24640 - - 1 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000525358.1 nonsense_mediated_decay - - - - - - - - - rs10751530 775 1 cds_start_NF HGNC HGNC:24640 - - 3 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T downstream_gene_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000525524.1 retained_intron - - - - - - - - - rs10751530 3191 1 - HGNC HGNC:24640 - - 2 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T intron_variant,non_coding_transcript_variant MODIFIER EDRF1 ENSG00000107938 Transcript ENST00000527655.5 retained_intron - 1/2 - - - - - - - rs10751530 - 1 - HGNC HGNC:24640 - - 3 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000593871.5 lncRNA - - - - - - - - - rs10751530 939 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000594025.5 lncRNA - - - - - - - - - rs10751530 894 -1 - HGNC HGNC:49501 - - 3 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000600784.5 lncRNA - - - - - - - - - rs10751530 2522 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000601363.1 lncRNA - - - - - - - - - rs10751530 930 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000602030.5 lncRNA - - - - - - - - - rs10751530 903 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000610534.4 lncRNA - - - - - - - - - rs10751530 926 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000612306.4 lncRNA - - - - - - - - - rs10751530 929 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000612420.4 lncRNA - - - - - - - - - rs10751530 931 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000613304.4 lncRNA - - - - - - - - - rs10751530 930 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000615461.4 lncRNA - - - - - - - - - rs10751530 932 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000615795.4 lncRNA - - - - - - - - - rs10751530 932 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000621717.4 lncRNA - - - - - - - - - rs10751530 931 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000622798.4 lncRNA - - - - - - - - - rs10751530 931 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000627990.2 lncRNA - - - - - - - - - rs10751530 3479 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 ENSG00000236991 Transcript ENST00000630227.2 lncRNA - - - - - - - - - rs10751530 3479 -1 - HGNC HGNC:49501 - - 5 - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T downstream_gene_variant MODIFIER MMP21 ENSG00000154485 Transcript ENST00000651834.1 nonsense_mediated_decay - - - - - - - - - rs10751530 576 -1 cds_start_NF HGNC HGNC:14357 - - - - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T downstream_gene_variant MODIFIER MMP21 ENSG00000154485 Transcript ENST00000651977.1 protein_coding - - - - - - - - - rs10751530 4505 -1 cds_start_NF HGNC HGNC:14357 - - - - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T downstream_gene_variant MODIFIER MMP21 ENSG00000154485 Transcript ENST00000652044.1 protein_coding - - - - - - - - - rs10751530 4505 -1 cds_start_NF HGNC HGNC:14357 - - - - - Ensembl - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T intron_variant MODIFIER EDRF1 26098 Transcript NM_001202438.2 protein_coding - 23/24 - - - - - - - rs10751530 - 1 - EntrezGene HGNC:24640 ENST00000356792.9 - - - - RefSeq - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T intron_variant MODIFIER EDRF1 26098 Transcript NM_015608.3 protein_coding - 22/23 - - - - - - - rs10751530 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T intron_variant,non_coding_transcript_variant MODIFIER EDRF1 26098 Transcript NR_110857.2 misc_RNA - 23/24 - - - - - - - rs10751530 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T intron_variant,non_coding_transcript_variant MODIFIER EDRF1 26098 Transcript NR_110858.2 misc_RNA - 24/25 - - - - - - - rs10751530 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T intron_variant,non_coding_transcript_variant MODIFIER EDRF1 26098 Transcript NR_110859.2 misc_RNA - 23/25 - - - - - - - rs10751530 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T upstream_gene_variant MODIFIER EDRF1-AS1 101927983 Transcript NR_120633.1 lncRNA - - - - - - - - - rs10751530 944 -1 - EntrezGene HGNC:49501 - - - - - RefSeq - G G - - - 0.6641 - - - - - - - - - . 10:125753004-125753004 T intron_variant MODIFIER EDRF1 26098 Transcript XM_011539622.2 protein_coding - 16/17 - - - - - - - rs10751530 - 1 - EntrezGene HGNC:24640 - - - - - RefSeq - G G - - - 0.6641 - - - - - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000368786.5 protein_coding - 7/8 - - - - - - - rs3740179,COSV64229637 - -1 - HGNC HGNC:12592 - - 1 P1 - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000368797.10 protein_coding - 8/9 - - - - - - - rs3740179,COSV64229637 - -1 - HGNC HGNC:12592 NM_000375.3 - 1 P1 - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000420761.5 protein_coding - 7/7 - - - - - - - rs3740179,COSV64229637 - -1 cds_end_NF HGNC HGNC:12592 - - 5 - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000462490.5 protein_coding - 3/4 - - - - - - - rs3740179,COSV64229637 - -1 cds_start_NF HGNC HGNC:12592 - - 5 - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000464267.1 nonsense_mediated_decay - 2/5 - - - - - - - rs3740179,COSV64229637 - -1 cds_start_NF HGNC HGNC:12592 - - 3 - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000465577.6 nonsense_mediated_decay - 4/6 - - - - - - - rs3740179,COSV64229637 - -1 cds_start_NF HGNC HGNC:12592 - - 5 - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A non_coding_transcript_exon_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000470483.1 protein_coding_CDS_not_defined 1/2 - - - 224 - - - - rs3740179,COSV64229637 - -1 - HGNC HGNC:12592 - - 2 - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,non_coding_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000484541.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs3740179,COSV64229637 - -1 - HGNC HGNC:12592 - - 3 - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000616800.4 protein_coding - 1/2 - - - - - - - rs3740179,COSV64229637 - -1 cds_start_NF HGNC HGNC:12592 - - 5 - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000622016.4 protein_coding - 2/3 - - - - - - - rs3740179,COSV64229637 - -1 cds_start_NF HGNC HGNC:12592 - - 5 - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000648119.1 nonsense_mediated_decay - 9/10 - - - - - - - rs3740179,COSV64229637 - -1 - HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000648427.1 nonsense_mediated_decay - 10/12 - - - - - - - rs3740179,COSV64229637 - -1 - HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000649275.1 nonsense_mediated_decay - 8/8 - - - - - - - rs3740179,COSV64229637 - -1 cds_start_NF HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A downstream_gene_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000649450.1 protein_coding_CDS_not_defined - - - - - - - - - rs3740179,COSV64229637 2499 -1 - HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000649536.1 protein_coding - 7/9 - - - - - - - rs3740179,COSV64229637 - -1 - HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000650185.1 nonsense_mediated_decay - 5/7 - - - - - - - rs3740179,COSV64229637 - -1 cds_start_NF HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,non_coding_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000650472.1 retained_intron - 3/4 - - - - - - - rs3740179,COSV64229637 - -1 - HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000650524.1 nonsense_mediated_decay - 7/8 - - - - - - - rs3740179,COSV64229637 - -1 cds_start_NF HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000650587.1 protein_coding - 7/9 - - - - - - - rs3740179,COSV64229637 - -1 - HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS 7390 Transcript NM_000375.3 protein_coding - 8/9 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 ENST00000368797.10 - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS 7390 Transcript NM_001324036.2 protein_coding - 8/10 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS 7390 Transcript NM_001324037.2 protein_coding - 7/9 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS 7390 Transcript NM_001324038.2 protein_coding - 7/8 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript NR_136675.2 misc_RNA - 6/7 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript NR_136676.2 misc_RNA - 8/10 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript NR_136677.2 misc_RNA - 8/10 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript NR_136678.2 misc_RNA - 5/6 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS 7390 Transcript XM_005270140.6 protein_coding - 8/9 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS 7390 Transcript XM_011540127.3 protein_coding - 8/9 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS 7390 Transcript XM_017016611.3 protein_coding - 8/10 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS 7390 Transcript XM_017016612.3 protein_coding - 8/9 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS 7390 Transcript XM_024448154.2 protein_coding - 8/9 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS 7390 Transcript XM_024448155.2 protein_coding - 7/8 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS 7390 Transcript XM_047425708.1 protein_coding - 7/9 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant MODIFIER UROS 7390 Transcript XM_047425709.1 protein_coding - 8/9 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A downstream_gene_variant MODIFIER UROS 7390 Transcript XM_047425710.1 protein_coding - - - - - - - - - rs3740179,COSV64229637 1864 -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript XR_001747196.3 misc_RNA - 8/10 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript XR_007061985.1 misc_RNA - 8/10 - - - - - - - rs3740179,COSV64229637 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125795004-125795004 A downstream_gene_variant MODIFIER UROS 7390 Transcript XR_007061986.1 misc_RNA - - - - - - - - - rs3740179,COSV64229637 1098 -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.4012 benign 0,1 1,1 23386860 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000368786.5 protein_coding - 7/8 - - - - - - - rs2281955,COSV64229854 - -1 - HGNC HGNC:12592 - - 1 P1 - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000368797.10 protein_coding - 8/9 - - - - - - - rs2281955,COSV64229854 - -1 - HGNC HGNC:12592 NM_000375.3 - 1 P1 - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000420761.5 protein_coding - 7/7 - - - - - - - rs2281955,COSV64229854 - -1 cds_end_NF HGNC HGNC:12592 - - 5 - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000462490.5 protein_coding - 3/4 - - - - - - - rs2281955,COSV64229854 - -1 cds_start_NF HGNC HGNC:12592 - - 5 - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000464267.1 nonsense_mediated_decay - 2/5 - - - - - - - rs2281955,COSV64229854 - -1 cds_start_NF HGNC HGNC:12592 - - 3 - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000465577.6 nonsense_mediated_decay - 3/6 - - - - - - - rs2281955,COSV64229854 - -1 cds_start_NF HGNC HGNC:12592 - - 5 - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G upstream_gene_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000470483.1 protein_coding_CDS_not_defined - - - - - - - - - rs2281955,COSV64229854 821 -1 - HGNC HGNC:12592 - - 2 - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,non_coding_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000484541.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2281955,COSV64229854 - -1 - HGNC HGNC:12592 - - 3 - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000616800.4 protein_coding - 1/2 - - - - - - - rs2281955,COSV64229854 - -1 cds_start_NF HGNC HGNC:12592 - - 5 - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000622016.4 protein_coding - 2/3 - - - - - - - rs2281955,COSV64229854 - -1 cds_start_NF HGNC HGNC:12592 - - 5 - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000648119.1 nonsense_mediated_decay - 9/10 - - - - - - - rs2281955,COSV64229854 - -1 - HGNC HGNC:12592 - - - - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000648427.1 nonsense_mediated_decay - 9/12 - - - - - - - rs2281955,COSV64229854 - -1 - HGNC HGNC:12592 - - - - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000649275.1 nonsense_mediated_decay - 8/8 - - - - - - - rs2281955,COSV64229854 - -1 cds_start_NF HGNC HGNC:12592 - - - - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G downstream_gene_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000649450.1 protein_coding_CDS_not_defined - - - - - - - - - rs2281955,COSV64229854 1455 -1 - HGNC HGNC:12592 - - - - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000649536.1 protein_coding - 7/9 - - - - - - - rs2281955,COSV64229854 - -1 - HGNC HGNC:12592 - - - - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000650185.1 nonsense_mediated_decay - 5/7 - - - - - - - rs2281955,COSV64229854 - -1 cds_start_NF HGNC HGNC:12592 - - - - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,non_coding_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000650472.1 retained_intron - 3/4 - - - - - - - rs2281955,COSV64229854 - -1 - HGNC HGNC:12592 - - - - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000650524.1 nonsense_mediated_decay - 7/8 - - - - - - - rs2281955,COSV64229854 - -1 cds_start_NF HGNC HGNC:12592 - - - - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000650587.1 protein_coding - 7/9 - - - - - - - rs2281955,COSV64229854 - -1 - HGNC HGNC:12592 - - - - - Ensembl - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS 7390 Transcript NM_000375.3 protein_coding - 8/9 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 ENST00000368797.10 - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS 7390 Transcript NM_001324036.2 protein_coding - 8/10 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS 7390 Transcript NM_001324037.2 protein_coding - 7/9 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS 7390 Transcript NM_001324038.2 protein_coding - 7/8 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript NR_136675.2 misc_RNA - 6/7 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript NR_136676.2 misc_RNA - 8/10 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript NR_136677.2 misc_RNA - 8/10 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript NR_136678.2 misc_RNA - 5/6 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS 7390 Transcript XM_005270140.6 protein_coding - 8/9 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS 7390 Transcript XM_011540127.3 protein_coding - 8/9 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS 7390 Transcript XM_017016611.3 protein_coding - 8/10 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS 7390 Transcript XM_017016612.3 protein_coding - 8/9 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS 7390 Transcript XM_024448154.2 protein_coding - 8/9 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS 7390 Transcript XM_024448155.2 protein_coding - 7/8 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS 7390 Transcript XM_047425708.1 protein_coding - 7/9 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant MODIFIER UROS 7390 Transcript XM_047425709.1 protein_coding - 8/9 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G downstream_gene_variant MODIFIER UROS 7390 Transcript XM_047425710.1 protein_coding - - - - - - - - - rs2281955,COSV64229854 820 -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript XR_001747196.3 misc_RNA - 8/10 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript XR_007061985.1 misc_RNA - 8/10 - - - - - - - rs2281955,COSV64229854 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G downstream_gene_variant MODIFIER UROS 7390 Transcript XR_007061986.1 misc_RNA - - - - - - - - - rs2281955,COSV64229854 54 -1 - EntrezGene HGNC:12592 - - - - - RefSeq - C C - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796048-125796048 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419086 open_chromatin_region - - - - - - - - - rs2281955,COSV64229854 - - - - - - - - - - - - - - - - - 0.4006 benign 0,1 1,1 16642439,16400611 - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000368786.5 protein_coding - 7/8 - - - - - - - rs2281954,COSV64229522 - -1 - HGNC HGNC:12592 - - 1 P1 - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000368797.10 protein_coding - 8/9 - - - - - - - rs2281954,COSV64229522 - -1 - HGNC HGNC:12592 NM_000375.3 - 1 P1 - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000420761.5 protein_coding - 7/7 - - - - - - - rs2281954,COSV64229522 - -1 cds_end_NF HGNC HGNC:12592 - - 5 - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000462490.5 protein_coding - 3/4 - - - - - - - rs2281954,COSV64229522 - -1 cds_start_NF HGNC HGNC:12592 - - 5 - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000464267.1 nonsense_mediated_decay - 2/5 - - - - - - - rs2281954,COSV64229522 - -1 cds_start_NF HGNC HGNC:12592 - - 3 - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000465577.6 nonsense_mediated_decay - 3/6 - - - - - - - rs2281954,COSV64229522 - -1 cds_start_NF HGNC HGNC:12592 - - 5 - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A upstream_gene_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000470483.1 protein_coding_CDS_not_defined - - - - - - - - - rs2281954,COSV64229522 857 -1 - HGNC HGNC:12592 - - 2 - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,non_coding_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000484541.5 protein_coding_CDS_not_defined - 1/3 - - - - - - - rs2281954,COSV64229522 - -1 - HGNC HGNC:12592 - - 3 - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000616800.4 protein_coding - 1/2 - - - - - - - rs2281954,COSV64229522 - -1 cds_start_NF HGNC HGNC:12592 - - 5 - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000622016.4 protein_coding - 2/3 - - - - - - - rs2281954,COSV64229522 - -1 cds_start_NF HGNC HGNC:12592 - - 5 - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000648119.1 nonsense_mediated_decay - 9/10 - - - - - - - rs2281954,COSV64229522 - -1 - HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000648427.1 nonsense_mediated_decay - 9/12 - - - - - - - rs2281954,COSV64229522 - -1 - HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000649275.1 nonsense_mediated_decay - 8/8 - - - - - - - rs2281954,COSV64229522 - -1 cds_start_NF HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A downstream_gene_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000649450.1 protein_coding_CDS_not_defined - - - - - - - - - rs2281954,COSV64229522 1419 -1 - HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000649536.1 protein_coding - 7/9 - - - - - - - rs2281954,COSV64229522 - -1 - HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000650185.1 nonsense_mediated_decay - 5/7 - - - - - - - rs2281954,COSV64229522 - -1 cds_start_NF HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,non_coding_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000650472.1 retained_intron - 3/4 - - - - - - - rs2281954,COSV64229522 - -1 - HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,NMD_transcript_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000650524.1 nonsense_mediated_decay - 7/8 - - - - - - - rs2281954,COSV64229522 - -1 cds_start_NF HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS ENSG00000188690 Transcript ENST00000650587.1 protein_coding - 7/9 - - - - - - - rs2281954,COSV64229522 - -1 - HGNC HGNC:12592 - - - - - Ensembl - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS 7390 Transcript NM_000375.3 protein_coding - 8/9 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 ENST00000368797.10 - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS 7390 Transcript NM_001324036.2 protein_coding - 8/10 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS 7390 Transcript NM_001324037.2 protein_coding - 7/9 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS 7390 Transcript NM_001324038.2 protein_coding - 7/8 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript NR_136675.2 misc_RNA - 6/7 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript NR_136676.2 misc_RNA - 8/10 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript NR_136677.2 misc_RNA - 8/10 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript NR_136678.2 misc_RNA - 5/6 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS 7390 Transcript XM_005270140.6 protein_coding - 8/9 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS 7390 Transcript XM_011540127.3 protein_coding - 8/9 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS 7390 Transcript XM_017016611.3 protein_coding - 8/10 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS 7390 Transcript XM_017016612.3 protein_coding - 8/9 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS 7390 Transcript XM_024448154.2 protein_coding - 8/9 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS 7390 Transcript XM_024448155.2 protein_coding - 7/8 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS 7390 Transcript XM_047425708.1 protein_coding - 7/9 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant MODIFIER UROS 7390 Transcript XM_047425709.1 protein_coding - 8/9 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A downstream_gene_variant MODIFIER UROS 7390 Transcript XM_047425710.1 protein_coding - - - - - - - - - rs2281954,COSV64229522 784 -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript XR_001747196.3 misc_RNA - 8/10 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A intron_variant,non_coding_transcript_variant MODIFIER UROS 7390 Transcript XR_007061985.1 misc_RNA - 8/10 - - - - - - - rs2281954,COSV64229522 - -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A downstream_gene_variant MODIFIER UROS 7390 Transcript XR_007061986.1 misc_RNA - - - - - - - - - rs2281954,COSV64229522 18 -1 - EntrezGene HGNC:12592 - - - - - RefSeq - G G - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125796084-125796084 A regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419086 open_chromatin_region - - - - - - - - - rs2281954,COSV64229522 - - - - - - - - - - - - - - - - - 0.3960 benign 0,1 1,1 - - - - - - . 10:125979862-125979862 G intron_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000368689.1 protein_coding - 1/4 - - - - - - - rs11244745,COSV64156596 - 1 - HGNC HGNC:23527 - - 3 - - Ensembl - A A - - - 0.3888 - 0,1 0,1 - - - - - - . 10:125979862-125979862 G intron_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000368691.5 protein_coding - 1/8 - - - - - - - rs11244745,COSV64156596 - 1 - HGNC HGNC:23527 - - 5 - - Ensembl - A A - - - 0.3888 - 0,1 0,1 - - - - - - . 10:125979862-125979862 G intron_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000368693.6 protein_coding - 1/10 - - - - - - - rs11244745,COSV64156596 - 1 - HGNC HGNC:23527 NM_145235.5 - 1 P1 - Ensembl - A A - - - 0.3888 - 0,1 0,1 - - - - - - . 10:125979862-125979862 G intron_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000417114.5 protein_coding - 1/3 - - - - - - - rs11244745,COSV64156596 - 1 cds_end_NF HGNC HGNC:23527 - - 3 - - Ensembl - A A - - - 0.3888 - 0,1 0,1 - - - - - - . 10:125979862-125979862 G intron_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000445510.5 protein_coding - 1/4 - - - - - - - rs11244745,COSV64156596 - 1 cds_end_NF HGNC HGNC:23527 - - 5 - - Ensembl - A A - - - 0.3888 - 0,1 0,1 - - - - - - . 10:125979862-125979862 G intron_variant,non_coding_transcript_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000494896.1 protein_coding_CDS_not_defined - 1/1 - - - - - - - rs11244745,COSV64156596 - 1 - HGNC HGNC:23527 - - 3 - - Ensembl - A A - - - 0.3888 - 0,1 0,1 - - - - - - . 10:125979862-125979862 G intron_variant MODIFIER FANK1 92565 Transcript NM_001350939.2 protein_coding - 1/11 - - - - - - - rs11244745,COSV64156596 - 1 - EntrezGene HGNC:23527 - - - - - RefSeq - A A - - - 0.3888 - 0,1 0,1 - - - - - - . 10:125979862-125979862 G intron_variant MODIFIER FANK1 92565 Transcript NM_001363549.2 protein_coding - 1/10 - - - - - - - rs11244745,COSV64156596 - 1 - EntrezGene HGNC:23527 - - - - - RefSeq - A A - - - 0.3888 - 0,1 0,1 - - - - - - . 10:125979862-125979862 G intron_variant MODIFIER FANK1 92565 Transcript NM_145235.5 protein_coding - 1/10 - - - - - - - rs11244745,COSV64156596 - 1 - EntrezGene HGNC:23527 ENST00000368693.6 - - - - RefSeq - A A - - - 0.3888 - 0,1 0,1 - - - - - - . 10:125996522-125996522 C downstream_gene_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000368689.1 protein_coding - - - - - - - - - rs3736477 964 1 - HGNC HGNC:23527 - - 3 - - Ensembl - T T - - - 0.6182 - - - 18682798 - - - - - . 10:125996522-125996522 C intron_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000368691.5 protein_coding - 5/8 - - - - - - - rs3736477 - 1 - HGNC HGNC:23527 - - 5 - - Ensembl - T T - - - 0.6182 - - - 18682798 - - - - - . 10:125996522-125996522 C intron_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000368693.6 protein_coding - 4/10 - - - - - - - rs3736477 - 1 - HGNC HGNC:23527 NM_145235.5 - 1 P1 - Ensembl - T T - - - 0.6182 - - - 18682798 - - - - - . 10:125996522-125996522 C downstream_gene_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000417114.5 protein_coding - - - - - - - - - rs3736477 1033 1 cds_end_NF HGNC HGNC:23527 - - 3 - - Ensembl - T T - - - 0.6182 - - - 18682798 - - - - - . 10:125996522-125996522 C downstream_gene_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000445510.5 protein_coding - - - - - - - - - rs3736477 1024 1 cds_end_NF HGNC HGNC:23527 - - 5 - - Ensembl - T T - - - 0.6182 - - - 18682798 - - - - - . 10:125996522-125996522 C intron_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000456942.1 protein_coding - 1/5 - - - - - - - rs3736477 - 1 cds_start_NF HGNC HGNC:23527 - - 3 - - Ensembl - T T - - - 0.6182 - - - 18682798 - - - - - . 10:125996522-125996522 C intron_variant,non_coding_transcript_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000464130.5 protein_coding_CDS_not_defined - 1/6 - - - - - - - rs3736477 - 1 - HGNC HGNC:23527 - - 5 - - Ensembl - T T - - - 0.6182 - - - 18682798 - - - - - . 10:125996522-125996522 C intron_variant,non_coding_transcript_variant MODIFIER FANK1 ENSG00000203780 Transcript ENST00000492670.5 protein_coding_CDS_not_defined - 2/7 - - - - - - - rs3736477 - 1 - HGNC HGNC:23527 - - 5 - - Ensembl - T T - - - 0.6182 - - - 18682798 - - - - - . 10:125996522-125996522 C intron_variant MODIFIER FANK1 92565 Transcript NM_001350939.2 protein_coding - 5/11 - - - - - - - rs3736477 - 1 - EntrezGene HGNC:23527 - - - - - RefSeq - T T - - - 0.6182 - - - 18682798 - - - - - . 10:125996522-125996522 C intron_variant MODIFIER FANK1 92565 Transcript NM_001363549.2 protein_coding - 4/10 - - - - - - - rs3736477 - 1 - EntrezGene HGNC:23527 - - - - - RefSeq - T T - - - 0.6182 - - - 18682798 - - - - - . 10:125996522-125996522 C intron_variant MODIFIER FANK1 92565 Transcript NM_145235.5 protein_coding - 4/10 - - - - - - - rs3736477 - 1 - EntrezGene HGNC:23527 ENST00000368693.6 - - - - RefSeq - T T - - - 0.6182 - - - 18682798 - - - - - . 10:126330456-126330456 G missense_variant MODERATE ADAM12 ENSG00000148848 Transcript ENST00000368676.8 protein_coding 2/19 - - - 452 142 48 G/R Ggg/Cgg rs3740199,CM0910263,COSV64102688,COSV64105708 - -1 - HGNC HGNC:190 - - 1 A2 - Ensembl - C C - tolerated_low_confidence(0.09) benign(0) 0.5234 - 0,0,1,1 0,1,1,1 23491141,16385451,28216310,28748424,28929114,29100419,19268722,26553447,28637509,28721062,18790654,28651521,31078964,28523640,30279205,23606964,30705524,25667922,25197389,25995176,23785386,19036616,32256724,32751537,34145804,26875044,22284607,32250658,34774787 - - - - - . 10:126330456-126330456 G missense_variant MODERATE ADAM12 ENSG00000148848 Transcript ENST00000368679.8 protein_coding 2/23 - - - 452 142 48 G/R Ggg/Cgg rs3740199,CM0910263,COSV64102688,COSV64105708 - -1 - HGNC HGNC:190 - - 1 A2 - Ensembl - C C - tolerated_low_confidence(0.07) benign(0.001) 0.5234 - 0,0,1,1 0,1,1,1 23491141,16385451,28216310,28748424,28929114,29100419,19268722,26553447,28637509,28721062,18790654,28651521,31078964,28523640,30279205,23606964,30705524,25667922,25197389,25995176,23785386,19036616,32256724,32751537,34145804,26875044,22284607,32250658,34774787 - - - - - . 10:126330456-126330456 G missense_variant MODERATE ADAM12 ENSG00000148848 Transcript ENST00000448723.2 protein_coding 2/23 - - - 474 142 48 G/R Ggg/Cgg rs3740199,CM0910263,COSV64102688,COSV64105708 - -1 - HGNC HGNC:190 NM_001288973.2 - 5 P4 - Ensembl - C C - tolerated_low_confidence(0.06) benign(0.015) 0.5234 - 0,0,1,1 0,1,1,1 23491141,16385451,28216310,28748424,28929114,29100419,19268722,26553447,28637509,28721062,18790654,28651521,31078964,28523640,30279205,23606964,30705524,25667922,25197389,25995176,23785386,19036616,32256724,32751537,34145804,26875044,22284607,32250658,34774787 - - - - - . 10:126330456-126330456 G missense_variant MODERATE ADAM12 8038 Transcript NM_001288973.2 protein_coding 2/23 - - - 474 142 48 G/R Ggg/Cgg rs3740199,CM0910263,COSV64102688,COSV64105708 - -1 - EntrezGene HGNC:190 ENST00000448723.2 - - - - RefSeq - C C - tolerated_low_confidence(0.06) benign(0.015) 0.5234 - 0,0,1,1 0,1,1,1 23491141,16385451,28216310,28748424,28929114,29100419,19268722,26553447,28637509,28721062,18790654,28651521,31078964,28523640,30279205,23606964,30705524,25667922,25197389,25995176,23785386,19036616,32256724,32751537,34145804,26875044,22284607,32250658,34774787 - - - - - . 10:126330456-126330456 G missense_variant MODERATE ADAM12 8038 Transcript NM_001288974.2 protein_coding 2/19 - - - 474 142 48 G/R Ggg/Cgg rs3740199,CM0910263,COSV64102688,COSV64105708 - -1 - EntrezGene HGNC:190 - - - - - RefSeq - C C - tolerated_low_confidence(0.1) benign(0) 0.5234 - 0,0,1,1 0,1,1,1 23491141,16385451,28216310,28748424,28929114,29100419,19268722,26553447,28637509,28721062,18790654,28651521,31078964,28523640,30279205,23606964,30705524,25667922,25197389,25995176,23785386,19036616,32256724,32751537,34145804,26875044,22284607,32250658,34774787 - - - - - . 10:126330456-126330456 G missense_variant MODERATE ADAM12 8038 Transcript NM_001288975.2 protein_coding 2/19 - - - 474 142 48 G/R Ggg/Cgg rs3740199,CM0910263,COSV64102688,COSV64105708 - -1 - EntrezGene HGNC:190 - - - - - RefSeq - C C - tolerated_low_confidence(0.09) benign(0) 0.5234 - 0,0,1,1 0,1,1,1 23491141,16385451,28216310,28748424,28929114,29100419,19268722,26553447,28637509,28721062,18790654,28651521,31078964,28523640,30279205,23606964,30705524,25667922,25197389,25995176,23785386,19036616,32256724,32751537,34145804,26875044,22284607,32250658,34774787 - - - - - . 10:126330456-126330456 G missense_variant MODERATE ADAM12 8038 Transcript NM_003474.6 protein_coding 2/23 - - - 474 142 48 G/R Ggg/Cgg rs3740199,CM0910263,COSV64102688,COSV64105708 - -1 - EntrezGene HGNC:190 - - - - - RefSeq - C C - tolerated_low_confidence(0.07) benign(0.001) 0.5234 - 0,0,1,1 0,1,1,1 23491141,16385451,28216310,28748424,28929114,29100419,19268722,26553447,28637509,28721062,18790654,28651521,31078964,28523640,30279205,23606964,30705524,25667922,25197389,25995176,23785386,19036616,32256724,32751537,34145804,26875044,22284607,32250658,34774787 - - - - - . 10:126330456-126330456 G missense_variant MODERATE ADAM12 8038 Transcript NM_021641.5 protein_coding 2/19 - - - 474 142 48 G/R Ggg/Cgg rs3740199,CM0910263,COSV64102688,COSV64105708 - -1 - EntrezGene HGNC:190 - - - - - RefSeq - C C - tolerated_low_confidence(0.09) benign(0) 0.5234 - 0,0,1,1 0,1,1,1 23491141,16385451,28216310,28748424,28929114,29100419,19268722,26553447,28637509,28721062,18790654,28651521,31078964,28523640,30279205,23606964,30705524,25667922,25197389,25995176,23785386,19036616,32256724,32751537,34145804,26875044,22284607,32250658,34774787 - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000284694.11 protein_coding - 3/8 - - - - - - - rs10510159,COSV52957387 - -1 - HGNC HGNC:26563 - - 1 A2 - Ensembl - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000356858.7 protein_coding - 3/7 - - - - - - - rs10510159,COSV52957387 - -1 - HGNC HGNC:26563 - - 5 - - Ensembl - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C non_coding_transcript_exon_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000368674.5 protein_coding_CDS_not_defined 6/6 - - - 1896 - - - - rs10510159,COSV52957387 - -1 - HGNC HGNC:26563 - - 2 - - Ensembl - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000424927.5 protein_coding - 1/5 - - - - - - - rs10510159,COSV52957387 - -1 cds_start_NF HGNC HGNC:26563 - - 1 - - Ensembl - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000432642.5 protein_coding - 3/7 - - - - - - - rs10510159,COSV52957387 - -1 cds_end_NF HGNC HGNC:26563 - - 2 - - Ensembl - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C downstream_gene_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000463082.1 nonsense_mediated_decay - - - - - - - - - rs10510159,COSV52957387 2075 -1 - HGNC HGNC:26563 - - 3 - - Ensembl - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000488181.3 protein_coding - 4/9 - - - - - - - rs10510159,COSV52957387 - -1 - HGNC HGNC:26563 NM_001350921.2 - 2 P2 - Ensembl - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript NM_001004298.4 protein_coding - 3/8 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript NM_001350921.2 protein_coding - 4/9 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 ENST00000488181.3 - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript NM_001350922.2 protein_coding - 4/8 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C downstream_gene_variant MODIFIER C10orf90 118611 Transcript NM_001350923.2 protein_coding - - - - - - - - - rs10510159,COSV52957387 46 -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant,non_coding_transcript_variant MODIFIER C10orf90 118611 Transcript NR_146939.2 misc_RNA - 4/11 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript XM_011539217.2 protein_coding - 4/9 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript XM_011539223.3 protein_coding - 3/8 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript XM_047424556.1 protein_coding - 3/8 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript XM_047424557.1 protein_coding - 4/9 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript XM_047424558.1 protein_coding - 3/8 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript XM_047424559.1 protein_coding - 4/9 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript XM_047424560.1 protein_coding - 3/8 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript XM_047424561.1 protein_coding - 3/8 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript XM_047424562.1 protein_coding - 4/4 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant MODIFIER C10orf90 118611 Transcript XM_047424563.1 protein_coding - 1/7 - - - - - - - rs10510159,COSV52957387 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C upstream_gene_variant MODIFIER C10orf90 118611 Transcript XM_047424564.1 protein_coding - - - - - - - - - rs10510159,COSV52957387 3600 -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378549 105378549 Transcript XR_001747636.2 lncRNA - 2/2 - - - - - - - rs10510159,COSV52957387 - 1 - EntrezGene - - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C intron_variant,non_coding_transcript_variant MODIFIER LOC105378549 105378549 Transcript XR_001747637.3 lncRNA - 2/2 - - - - - - - rs10510159,COSV52957387 - 1 - EntrezGene - - - - - - RefSeq - T T - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126502799-126502799 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000035052 open_chromatin_region - - - - - - - - - rs10510159,COSV52957387 - - - - - - - - - - - - - - - - - 0.2352 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 ENSG00000154493 Transcript ENST00000284694.11 protein_coding 3/9 - - - 937 816 272 S tcC/tcG rs78267894,COSV52951561 - -1 - HGNC HGNC:26563 - - 1 A2 - Ensembl - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 ENSG00000154493 Transcript ENST00000356858.7 protein_coding 3/8 - - - 1527 675 225 S tcC/tcG rs78267894,COSV52951561 - -1 - HGNC HGNC:26563 - - 5 - - Ensembl - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C non_coding_transcript_exon_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000368674.5 protein_coding_CDS_not_defined 5/6 - - - 1433 - - - - rs78267894,COSV52951561 - -1 - HGNC HGNC:26563 - - 2 - - Ensembl - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C upstream_gene_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000424927.5 protein_coding - - - - - - - - - rs78267894,COSV52951561 266 -1 cds_start_NF HGNC HGNC:26563 - - 1 - - Ensembl - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 ENSG00000154493 Transcript ENST00000432642.5 protein_coding 3/8 - - - 937 816 272 S tcC/tcG rs78267894,COSV52951561 - -1 cds_end_NF HGNC HGNC:26563 - - 2 - - Ensembl - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C downstream_gene_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000463082.1 nonsense_mediated_decay - - - - - - - - - rs78267894,COSV52951561 490 -1 - HGNC HGNC:26563 - - 3 - - Ensembl - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 ENSG00000154493 Transcript ENST00000488181.3 protein_coding 4/10 - - - 1320 1107 369 S tcC/tcG rs78267894,COSV52951561 - -1 - HGNC HGNC:26563 NM_001350921.2 - 2 P2 - Ensembl - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript NM_001004298.4 protein_coding 3/9 - - - 937 816 272 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript NM_001350921.2 protein_coding 4/10 - - - 1320 1107 369 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 ENST00000488181.3 - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript NM_001350922.2 protein_coding 4/9 - - - 1320 1107 369 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript NM_001350923.2 protein_coding 4/5 - - - 1320 1107 369 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C non_coding_transcript_exon_variant MODIFIER C10orf90 118611 Transcript NR_146939.2 misc_RNA 4/12 - - - 1320 - - - - rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript XM_011539217.2 protein_coding 4/10 - - - 1360 897 299 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript XM_011539223.3 protein_coding 3/9 - - - 842 675 225 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript XM_047424556.1 protein_coding 3/9 - - - 1008 933 311 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript XM_047424557.1 protein_coding 4/10 - - - 978 675 225 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript XM_047424558.1 protein_coding 3/9 - - - 861 675 225 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript XM_047424559.1 protein_coding 4/10 - - - 1027 675 225 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript XM_047424560.1 protein_coding 3/9 - - - 4276 675 225 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript XM_047424561.1 protein_coding 3/9 - - - 860 675 225 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C synonymous_variant LOW C10orf90 118611 Transcript XM_047424562.1 protein_coding 4/5 - - - 1320 1107 369 S tcC/tcG rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C 5_prime_UTR_variant MODIFIER C10orf90 118611 Transcript XM_047424563.1 protein_coding 1/8 - - - 102 - - - - rs78267894,COSV52951561 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C downstream_gene_variant MODIFIER LOC105378549 105378549 Transcript XR_001747636.2 lncRNA - - - - - - - - - rs78267894,COSV52951561 1199 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C downstream_gene_variant MODIFIER LOC105378549 105378549 Transcript XR_001747637.3 lncRNA - - - - - - - - - rs78267894,COSV52951561 1199 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000261991 CTCF_binding_site - - - - - - - - - rs78267894,COSV52951561 - - - - - - - - - - - - - - - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126504384-126504384 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419257 enhancer - - - - - - - - - rs78267894,COSV52951561 - - - - - - - - - - - - - - - - - 0.0160 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C synonymous_variant LOW C10orf90 ENSG00000154493 Transcript ENST00000284694.11 protein_coding 2/9 - - - 217 96 32 A gcA/gcG rs1436803,COSV52949695 - -1 - HGNC HGNC:26563 - - 1 A2 - Ensembl - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C 5_prime_UTR_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000356858.7 protein_coding 2/8 - - - 807 - - - - rs1436803,COSV52949695 - -1 - HGNC HGNC:26563 - - 5 - - Ensembl - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C non_coding_transcript_exon_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000368674.5 protein_coding_CDS_not_defined 4/6 - - - 713 - - - - rs1436803,COSV52949695 - -1 - HGNC HGNC:26563 - - 2 - - Ensembl - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C synonymous_variant LOW C10orf90 ENSG00000154493 Transcript ENST00000432642.5 protein_coding 2/8 - - - 217 96 32 A gcA/gcG rs1436803,COSV52949695 - -1 cds_end_NF HGNC HGNC:26563 - - 2 - - Ensembl - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C synonymous_variant,NMD_transcript_variant LOW C10orf90 ENSG00000154493 Transcript ENST00000463082.1 nonsense_mediated_decay 2/4 - - - 242 96 32 A gcA/gcG rs1436803,COSV52949695 - -1 - HGNC HGNC:26563 - - 3 - - Ensembl - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C synonymous_variant LOW C10orf90 ENSG00000154493 Transcript ENST00000488181.3 protein_coding 3/10 - - - 600 387 129 A gcA/gcG rs1436803,COSV52949695 - -1 - HGNC HGNC:26563 NM_001350921.2 - 2 P2 - Ensembl - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C non_coding_transcript_exon_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000657225.1 protein_coding_CDS_not_defined 3/3 - - - 304 - - - - rs1436803,COSV52949695 - -1 - HGNC HGNC:26563 - - - - - Ensembl - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C synonymous_variant LOW C10orf90 118611 Transcript NM_001004298.4 protein_coding 2/9 - - - 217 96 32 A gcA/gcG rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C synonymous_variant LOW C10orf90 118611 Transcript NM_001350921.2 protein_coding 3/10 - - - 600 387 129 A gcA/gcG rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 ENST00000488181.3 - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C synonymous_variant LOW C10orf90 118611 Transcript NM_001350922.2 protein_coding 3/9 - - - 600 387 129 A gcA/gcG rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C synonymous_variant LOW C10orf90 118611 Transcript NM_001350923.2 protein_coding 3/5 - - - 600 387 129 A gcA/gcG rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C non_coding_transcript_exon_variant MODIFIER C10orf90 118611 Transcript NR_146939.2 misc_RNA 3/12 - - - 600 - - - - rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C synonymous_variant LOW C10orf90 118611 Transcript XM_011539217.2 protein_coding 3/10 - - - 640 177 59 A gcA/gcG rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C 5_prime_UTR_variant MODIFIER C10orf90 118611 Transcript XM_011539223.3 protein_coding 2/9 - - - 122 - - - - rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C synonymous_variant LOW C10orf90 118611 Transcript XM_047424556.1 protein_coding 2/9 - - - 288 213 71 A gcA/gcG rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C 5_prime_UTR_variant MODIFIER C10orf90 118611 Transcript XM_047424557.1 protein_coding 3/10 - - - 258 - - - - rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C 5_prime_UTR_variant MODIFIER C10orf90 118611 Transcript XM_047424558.1 protein_coding 2/9 - - - 141 - - - - rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C 5_prime_UTR_variant MODIFIER C10orf90 118611 Transcript XM_047424559.1 protein_coding 3/10 - - - 307 - - - - rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C 5_prime_UTR_variant MODIFIER C10orf90 118611 Transcript XM_047424560.1 protein_coding 2/9 - - - 3556 - - - - rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C 5_prime_UTR_variant MODIFIER C10orf90 118611 Transcript XM_047424561.1 protein_coding 2/9 - - - 140 - - - - rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126513866-126513866 C synonymous_variant LOW C10orf90 118611 Transcript XM_047424562.1 protein_coding 3/5 - - - 600 387 129 A gcA/gcG rs1436803,COSV52949695 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - T T - - - 0.8760 - 0,1 0,1 - - - - - - . 10:126557096-126557096 A intron_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000488181.3 protein_coding - 2/9 - - - - - - - rs12784273 - -1 - HGNC HGNC:26563 NM_001350921.2 - 2 P2 - Ensembl - G G - - - 0.2758 - - - - - - - - - . 10:126557096-126557096 A intron_variant,non_coding_transcript_variant MODIFIER C10orf90 ENSG00000154493 Transcript ENST00000657225.1 protein_coding_CDS_not_defined - 2/2 - - - - - - - rs12784273 - -1 - HGNC HGNC:26563 - - - - - Ensembl - G G - - - 0.2758 - - - - - - - - - . 10:126557096-126557096 A intron_variant MODIFIER C10orf90 118611 Transcript NM_001350921.2 protein_coding - 2/9 - - - - - - - rs12784273 - -1 - EntrezGene HGNC:26563 ENST00000488181.3 - - - - RefSeq - G G - - - 0.2758 - - - - - - - - - . 10:126557096-126557096 A intron_variant MODIFIER C10orf90 118611 Transcript NM_001350922.2 protein_coding - 2/8 - - - - - - - rs12784273 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.2758 - - - - - - - - - . 10:126557096-126557096 A intron_variant MODIFIER C10orf90 118611 Transcript NM_001350923.2 protein_coding - 2/4 - - - - - - - rs12784273 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.2758 - - - - - - - - - . 10:126557096-126557096 A intron_variant,non_coding_transcript_variant MODIFIER C10orf90 118611 Transcript NR_146939.2 misc_RNA - 2/11 - - - - - - - rs12784273 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.2758 - - - - - - - - - . 10:126557096-126557096 A intron_variant MODIFIER C10orf90 118611 Transcript XM_047424562.1 protein_coding - 2/4 - - - - - - - rs12784273 - -1 - EntrezGene HGNC:26563 - - - - - RefSeq - G G - - - 0.2758 - - - - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 ENSG00000150760 Transcript ENST00000280333.9 protein_coding - 13/51 - - - - - - - rs2050812,COSV54761662 - 1 - HGNC HGNC:2987 - - 1 P1 - Ensembl - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000232935 Transcript ENST00000420941.2 lncRNA - 1/3 - - - - - - - rs2050812,COSV54761662 - -1 - - - - - 3 - - Ensembl - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A downstream_gene_variant MODIFIER - ENSG00000223528 Transcript ENST00000432554.6 lncRNA - - - - - - - - - rs2050812,COSV54761662 1619 -1 - - - - - 3 - - Ensembl - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000223528 Transcript ENST00000594559.5 lncRNA - 1/3 - - - - - - - rs2050812,COSV54761662 - -1 - - - - - 5 - - Ensembl - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000223528 Transcript ENST00000594614.5 lncRNA - 1/3 - - - - - - - rs2050812,COSV54761662 - -1 - - - - - 5 - - Ensembl - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000223528 Transcript ENST00000595456.5 lncRNA - 1/4 - - - - - - - rs2050812,COSV54761662 - -1 - - - - - 5 - - Ensembl - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000223528 Transcript ENST00000599979.5 lncRNA - 1/4 - - - - - - - rs2050812,COSV54761662 - -1 - - - - - 5 - - Ensembl - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000223528 Transcript ENST00000601242.5 lncRNA - 1/3 - - - - - - - rs2050812,COSV54761662 - -1 - - - - - 5 - - Ensembl - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000223528 Transcript ENST00000601826.5 lncRNA - 1/5 - - - - - - - rs2050812,COSV54761662 - -1 - - - - - 5 - - Ensembl - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A downstream_gene_variant MODIFIER - ENSG00000223528 Transcript ENST00000608350.1 lncRNA - - - - - - - - - rs2050812,COSV54761662 2803 -1 - - - - - 5 - - Ensembl - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000223528 Transcript ENST00000622832.1 lncRNA - 1/2 - - - - - - - rs2050812,COSV54761662 - -1 - - - - - 5 - - Ensembl - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 ENSG00000150760 Transcript ENST00000623213.2 protein_coding - 13/51 - - - - - - - rs2050812,COSV54761662 - 1 - HGNC HGNC:2987 NM_001290223.2 - 1 - - Ensembl - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001290223.2 protein_coding - 13/51 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 ENST00000623213.2 - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001377543.1 protein_coding - 13/52 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001377544.1 protein_coding - 14/52 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001377546.1 protein_coding - 13/50 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001377547.1 protein_coding - 12/50 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001377548.1 protein_coding - 12/50 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001377550.1 protein_coding - 13/50 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001377553.1 protein_coding - 13/50 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001377554.1 protein_coding - 11/49 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001377556.1 protein_coding - 13/49 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001377558.1 protein_coding - 11/49 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001377560.1 protein_coding - 5/43 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001377561.1 protein_coding - 13/29 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript NM_001380.5 protein_coding - 13/51 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript XM_011539422.4 protein_coding - 13/51 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript XM_011539424.2 protein_coding - 13/51 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript XM_017015813.3 protein_coding - 13/51 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript XM_017015814.2 protein_coding - 13/29 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript XM_017015817.1 protein_coding - 13/27 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript XM_047424700.1 protein_coding - 13/29 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript XM_047424701.1 protein_coding - 13/29 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript XM_047424702.1 protein_coding - 13/27 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant MODIFIER DOCK1 1793 Transcript XM_047424703.1 protein_coding - 13/27 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A upstream_gene_variant MODIFIER LOC105378552 105378552 Transcript XR_001747641.3 lncRNA - - - - - - - - - rs2050812,COSV54761662 4191 -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127023151-127023151 A intron_variant,non_coding_transcript_variant MODIFIER DOCK1 1793 Transcript XR_007061946.1 misc_RNA - 13/32 - - - - - - - rs2050812,COSV54761662 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.1216 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 ENSG00000150760 Transcript ENST00000280333.9 protein_coding - 21/51 - - - - - - - rs9418817,COSV54733769 - 1 - HGNC HGNC:2987 - - 1 P1 - Ensembl - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 ENSG00000150760 Transcript ENST00000623213.2 protein_coding - 21/51 - - - - - - - rs9418817,COSV54733769 - 1 - HGNC HGNC:2987 NM_001290223.2 - 1 - - Ensembl - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001290223.2 protein_coding - 21/51 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 ENST00000623213.2 - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377543.1 protein_coding - 21/52 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377544.1 protein_coding - 22/52 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377546.1 protein_coding - 21/50 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377547.1 protein_coding - 20/50 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377548.1 protein_coding - 20/50 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377550.1 protein_coding - 20/50 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377553.1 protein_coding - 21/50 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377554.1 protein_coding - 19/49 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377556.1 protein_coding - 21/49 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377558.1 protein_coding - 19/49 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377560.1 protein_coding - 13/43 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377561.1 protein_coding - 21/29 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001380.5 protein_coding - 21/51 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript XM_011539422.4 protein_coding - 21/51 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript XM_011539424.2 protein_coding - 21/51 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript XM_017015813.3 protein_coding - 21/51 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript XM_017015814.2 protein_coding - 21/29 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript XM_017015817.1 protein_coding - 21/27 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript XM_047424700.1 protein_coding - 21/29 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript XM_047424701.1 protein_coding - 21/29 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript XM_047424702.1 protein_coding - 21/27 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant MODIFIER DOCK1 1793 Transcript XM_047424703.1 protein_coding - 21/27 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127052577-127052577 C intron_variant,non_coding_transcript_variant MODIFIER DOCK1 1793 Transcript XR_007061946.1 misc_RNA - 21/32 - - - - - - - rs9418817,COSV54733769 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.6092 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 ENSG00000150760 Transcript ENST00000280333.9 protein_coding - 28/51 - - - - - - - rs3740013,COSV54741306 - 1 - HGNC HGNC:2987 - - 1 P1 - Ensembl - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant,non_coding_transcript_variant MODIFIER DOCK1 ENSG00000150760 Transcript ENST00000464466.1 protein_coding_CDS_not_defined - 1/2 - - - - - - - rs3740013,COSV54741306 - 1 - HGNC HGNC:2987 - - 3 - - Ensembl - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant,non_coding_transcript_variant MODIFIER DOCK1 ENSG00000150760 Transcript ENST00000484400.5 protein_coding_CDS_not_defined - 1/4 - - - - - - - rs3740013,COSV54741306 - 1 - HGNC HGNC:2987 - - 3 - - Ensembl - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant,non_coding_transcript_variant MODIFIER DOCK1 ENSG00000150760 Transcript ENST00000495574.1 retained_intron - 1/1 - - - - - - - rs3740013,COSV54741306 - 1 - HGNC HGNC:2987 - - 3 - - Ensembl - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 ENSG00000150760 Transcript ENST00000623213.2 protein_coding - 28/51 - - - - - - - rs3740013,COSV54741306 - 1 - HGNC HGNC:2987 NM_001290223.2 - 1 - - Ensembl - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001290223.2 protein_coding - 28/51 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 ENST00000623213.2 - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377543.1 protein_coding - 28/52 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377544.1 protein_coding - 29/52 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377546.1 protein_coding - 28/50 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377547.1 protein_coding - 27/50 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377548.1 protein_coding - 27/50 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377550.1 protein_coding - 27/50 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377553.1 protein_coding - 28/50 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377554.1 protein_coding - 26/49 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377556.1 protein_coding - 28/49 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377558.1 protein_coding - 26/49 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377560.1 protein_coding - 20/43 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001377561.1 protein_coding - 28/29 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript NM_001380.5 protein_coding - 28/51 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript XM_011539422.4 protein_coding - 28/51 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript XM_011539424.2 protein_coding - 28/51 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript XM_017015813.3 protein_coding - 28/51 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript XM_017015814.2 protein_coding - 28/29 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript XM_047424700.1 protein_coding - 28/29 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant MODIFIER DOCK1 1793 Transcript XM_047424701.1 protein_coding - 28/29 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127248143-127248143 C intron_variant,non_coding_transcript_variant MODIFIER DOCK1 1793 Transcript XR_007061946.1 misc_RNA - 28/32 - - - - - - - rs3740013,COSV54741306 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - T T - - - 0.4657 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 ENSG00000150760 Transcript ENST00000280333.9 protein_coding 50/52 - - - 5431 5322 1774 R agG/agA rs11371,COSV54728418 - 1 - HGNC HGNC:2987 - - 1 P1 - Ensembl - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 ENSG00000150760 Transcript ENST00000623213.2 protein_coding 50/52 - - - 5475 5385 1795 R agG/agA rs11371,COSV54728418 - 1 - HGNC HGNC:2987 NM_001290223.2 - 1 - - Ensembl - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001290223.2 protein_coding 50/52 - - - 5475 5385 1795 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 ENST00000623213.2 - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001377543.1 protein_coding 51/53 - - - 5574 5484 1828 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001377544.1 protein_coding 51/53 - - - 5448 5358 1786 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001377546.1 protein_coding 49/51 - - - 5355 5265 1755 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001377547.1 protein_coding 49/51 - - - 5349 5259 1753 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001377548.1 protein_coding 49/51 - - - 5328 5238 1746 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001377550.1 protein_coding 49/51 - - - 5313 5223 1741 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001377553.1 protein_coding 49/51 - - - 5292 5202 1734 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001377554.1 protein_coding 48/50 - - - 5259 5169 1723 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001377556.1 protein_coding 48/50 - - - 5217 5127 1709 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001377558.1 protein_coding 48/50 - - - 5205 5115 1705 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001377560.1 protein_coding 42/44 - - - 4620 4530 1510 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript NM_001380.5 protein_coding 50/52 - - - 5412 5322 1774 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript XM_011539422.4 protein_coding 50/52 - - - 5480 5451 1817 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript XM_011539424.2 protein_coding 50/52 - - - 5382 5367 1789 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A synonymous_variant LOW DOCK1 1793 Transcript XM_017015813.3 protein_coding 50/52 - - - 5834 5388 1796 R agG/agA rs11371,COSV54728418 - 1 - EntrezGene HGNC:2987 - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A upstream_gene_variant MODIFIER LOC124902524 124902524 Transcript XR_007062337.1 lncRNA - - - - - - - - - rs11371,COSV54728418 2149 -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127444251-127444251 A upstream_gene_variant MODIFIER LOC124902524 124902524 Transcript XR_007062338.1 lncRNA - - - - - - - - - rs11371,COSV54728418 2823 -1 - EntrezGene - - - - - - RefSeq - G G - - - 0.3375 - 0,1 0,1 - - - - - - . 10:127552377-127552377 T intron_variant MODIFIER NPS ENSG00000214285 Transcript ENST00000398023.3 protein_coding - 2/2 - - - - - - - rs4080381,COSV67690765 - 1 - HGNC HGNC:33940 NM_001030013.2 - 5 P1 - Ensembl - C C - - - 0.1120 - 0,1 0,1 - - - - - - . 10:127552377-127552377 T intron_variant MODIFIER NPS 594857 Transcript NM_001030013.2 protein_coding - 2/2 - - - - - - - rs4080381,COSV67690765 - 1 - EntrezGene HGNC:33940 ENST00000398023.3 - - - - RefSeq - C C - - - 0.1120 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000254667.8 protein_coding - 6/20 - - - - - - - rs4424589,COSV54546521 - 1 - HGNC HGNC:9669 NM_006504.6 - 1 - - Ensembl - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000306042.9 protein_coding - 3/17 - - - - - - - rs4424589,COSV54546521 - 1 - HGNC HGNC:9669 - - 1 P1 - Ensembl - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000455661.5 protein_coding - 5/5 - - - - - - - rs4424589,COSV54546521 - 1 cds_end_NF HGNC HGNC:9669 - - 2 - - Ensembl - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000467366.1 protein_coding - 3/3 - - - - - - - rs4424589,COSV54546521 - 1 cds_start_NF HGNC HGNC:9669 - - 3 - - Ensembl - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000471218.5 protein_coding - 5/5 - - - - - - - rs4424589,COSV54546521 - 1 - HGNC HGNC:9669 - - 3 - - Ensembl - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant,NMD_transcript_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000479896.1 nonsense_mediated_decay - 3/17 - - - - - - - rs4424589,COSV54546521 - 1 - HGNC HGNC:9669 - - 2 - - Ensembl - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant,NMD_transcript_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000495530.5 nonsense_mediated_decay - 3/9 - - - - - - - rs4424589,COSV54546521 - 1 - HGNC HGNC:9669 - - 5 - - Ensembl - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript NM_001316676.2 protein_coding - 7/21 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript NM_001316677.2 protein_coding - 5/20 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript NM_001323354.2 protein_coding - 5/19 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript NM_001323355.2 protein_coding - 5/19 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript NM_001323356.2 protein_coding - 5/19 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript NM_001323357.2 protein_coding - 3/16 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript NM_006504.6 protein_coding - 6/20 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 ENST00000254667.8 - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript NM_130435.5 protein_coding - 3/17 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C downstream_gene_variant MODIFIER AS-PTPRE 105378553 Transcript NR_136149.1 lncRNA - - - - - - - - - rs4424589,COSV54546521 1627 -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C downstream_gene_variant MODIFIER AS-PTPRE 105378553 Transcript NR_136150.1 lncRNA - - - - - - - - - rs4424589,COSV54546521 1627 -1 - EntrezGene - - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_005252691.3 protein_coding - 5/19 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_011539994.3 protein_coding - 5/19 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_011539995.2 protein_coding - 5/19 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_011539996.2 protein_coding - 5/18 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_011539998.2 protein_coding - 5/11 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_017016467.2 protein_coding - 5/20 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_017016469.3 protein_coding - 5/14 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_047425576.1 protein_coding - 5/19 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_047425577.1 protein_coding - 6/20 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_047425578.1 protein_coding - 6/20 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_047425579.1 protein_coding - 3/17 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_047425580.1 protein_coding - 3/17 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_047425581.1 protein_coding - 3/17 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_047425582.1 protein_coding - 3/16 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C intron_variant MODIFIER PTPRE 5791 Transcript XM_047425583.1 protein_coding - 2/16 - - - - - - - rs4424589,COSV54546521 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128056105-128056105 C upstream_gene_variant MODIFIER PTPRE 5791 Transcript XM_047425584.1 protein_coding - - - - - - - - - rs4424589,COSV54546521 90 1 - EntrezGene HGNC:9669 - - - - - RefSeq - T T - - - 0.8642 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000254667.8 protein_coding - 11/20 - - - - - - - rs10764743,COSV54548361 - 1 - HGNC HGNC:9669 NM_006504.6 - 1 - - Ensembl - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000306042.9 protein_coding - 8/17 - - - - - - - rs10764743,COSV54548361 - 1 - HGNC HGNC:9669 - - 1 P1 - Ensembl - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T upstream_gene_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000463727.1 retained_intron - - - - - - - - - rs10764743,COSV54548361 2131 1 - HGNC HGNC:9669 - - 1 - - Ensembl - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant,NMD_transcript_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000479896.1 nonsense_mediated_decay - 8/17 - - - - - - - rs10764743,COSV54548361 - 1 - HGNC HGNC:9669 - - 2 - - Ensembl - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant,non_coding_transcript_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000492479.1 retained_intron - 2/5 - - - - - - - rs10764743,COSV54548361 - 1 - HGNC HGNC:9669 - - 5 - - Ensembl - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant,NMD_transcript_variant MODIFIER PTPRE ENSG00000132334 Transcript ENST00000495530.5 nonsense_mediated_decay - 7/9 - - - - - - - rs10764743,COSV54548361 - 1 - HGNC HGNC:9669 - - 5 - - Ensembl - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript NM_001316676.2 protein_coding - 12/21 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript NM_001316677.2 protein_coding - 10/20 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript NM_001323354.2 protein_coding - 10/19 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript NM_001323355.2 protein_coding - 10/19 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript NM_001323356.2 protein_coding - 10/19 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript NM_001323357.2 protein_coding - 7/16 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript NM_006504.6 protein_coding - 11/20 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 ENST00000254667.8 - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript NM_130435.5 protein_coding - 8/17 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T upstream_gene_variant MODIFIER AS-PTPRE 105378553 Transcript NR_136149.1 lncRNA - - - - - - - - - rs10764743,COSV54548361 3826 -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T upstream_gene_variant MODIFIER AS-PTPRE 105378553 Transcript NR_136150.1 lncRNA - - - - - - - - - rs10764743,COSV54548361 3826 -1 - EntrezGene - - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_005252691.3 protein_coding - 10/19 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_011539994.3 protein_coding - 10/19 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_011539995.2 protein_coding - 10/19 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_011539996.2 protein_coding - 10/18 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_011539998.2 protein_coding - 10/11 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_017016467.2 protein_coding - 10/20 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_017016469.3 protein_coding - 10/14 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_047425576.1 protein_coding - 10/19 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_047425577.1 protein_coding - 11/20 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_047425578.1 protein_coding - 11/20 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_047425579.1 protein_coding - 8/17 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_047425580.1 protein_coding - 8/17 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_047425581.1 protein_coding - 8/17 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_047425582.1 protein_coding - 8/16 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_047425583.1 protein_coding - 7/16 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128066251-128066251 T intron_variant MODIFIER PTPRE 5791 Transcript XM_047425584.1 protein_coding - 4/13 - - - - - - - rs10764743,COSV54548361 - 1 - EntrezGene HGNC:9669 - - - - - RefSeq - C C - - - 0.4201 - 0,1 0,1 - - - - - - . 10:128101314-128101314 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 13/14 - - - 8764 8569 2857 K/E Aaa/Gaa rs8473,COSV64073880 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - T T - tolerated(1) - 0.4637 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101314-128101314 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 14/15 - - - 10063 9649 3217 K/E Aaa/Gaa rs8473,COSV64073880 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - T T - tolerated(1) - 0.4637 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101314-128101314 C downstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000464771.1 protein_coding_CDS_not_defined - - - - - - - - - rs8473,COSV64073880 170 -1 - HGNC HGNC:7107 - - 3 - - Ensembl - T T - - - 0.4637 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101314-128101314 C missense_variant MODERATE MKI67 4288 Transcript NM_001145966.2 protein_coding 13/14 - - - 8983 8569 2857 K/E Aaa/Gaa rs8473,COSV64073880 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - tolerated(1) - 0.4637 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101314-128101314 C missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 14/15 - - - 10063 9649 3217 K/E Aaa/Gaa rs8473,COSV64073880 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - T T - tolerated(1) - 0.4637 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101314-128101314 C missense_variant MODERATE MKI67 4288 Transcript XM_006717864.4 protein_coding 3/4 - - - 7914 7327 2443 K/E Aaa/Gaa rs8473,COSV64073880 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - - - 0.4637 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101314-128101314 C missense_variant MODERATE MKI67 4288 Transcript XM_011539818.3 protein_coding 11/12 - - - 9383 8617 2873 K/E Aaa/Gaa rs8473,COSV64073880 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - - - 0.4637 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101314-128101314 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419618 enhancer - - - - - - - - - rs8473,COSV64073880 - - - - - - - - - - - - - - - - - 0.4637 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101514-128101514 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 13/14 - - - 8564 8369 2790 T/S aCt/aGt rs11106,COSV64074529 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - G G - tolerated(0.94) - 0.4239 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101514-128101514 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 14/15 - - - 9863 9449 3150 T/S aCt/aGt rs11106,COSV64074529 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - G G - tolerated(1) - 0.4239 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101514-128101514 C non_coding_transcript_exon_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000464771.1 protein_coding_CDS_not_defined 2/2 - - - 662 - - - - rs11106,COSV64074529 - -1 - HGNC HGNC:7107 - - 3 - - Ensembl - G G - - - 0.4239 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101514-128101514 C missense_variant MODERATE MKI67 4288 Transcript NM_001145966.2 protein_coding 13/14 - - - 8783 8369 2790 T/S aCt/aGt rs11106,COSV64074529 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - G G - tolerated(0.94) - 0.4239 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101514-128101514 C missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 14/15 - - - 9863 9449 3150 T/S aCt/aGt rs11106,COSV64074529 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - G G - tolerated(1) - 0.4239 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101514-128101514 C missense_variant MODERATE MKI67 4288 Transcript XM_006717864.4 protein_coding 3/4 - - - 7714 7127 2376 T/S aCt/aGt rs11106,COSV64074529 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - G G - - - 0.4239 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101514-128101514 C missense_variant MODERATE MKI67 4288 Transcript XM_011539818.3 protein_coding 11/12 - - - 9183 8417 2806 T/S aCt/aGt rs11106,COSV64074529 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - G G - - - 0.4239 - 0,1 0,1 16385451,31511551 - - - - - . 10:128101514-128101514 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419618 enhancer - - - - - - - - - rs11106,COSV64074529 - - - - - - - - - - - - - - - - - 0.4239 - 0,1 0,1 16385451,31511551 - - - - - . 10:128102594-128102594 T synonymous_variant LOW MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 12/14 - - - 8361 8166 2722 S tcG/tcA rs3191122,COSV64073363 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - C C - - - 0.1781 - 0,1 0,1 - - - - - - . 10:128102594-128102594 T synonymous_variant LOW MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 13/15 - - - 9660 9246 3082 S tcG/tcA rs3191122,COSV64073363 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - C C - - - 0.1781 - 0,1 0,1 - - - - - - . 10:128102594-128102594 T non_coding_transcript_exon_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000464771.1 protein_coding_CDS_not_defined 1/2 - - - 535 - - - - rs3191122,COSV64073363 - -1 - HGNC HGNC:7107 - - 3 - - Ensembl - C C - - - 0.1781 - 0,1 0,1 - - - - - - . 10:128102594-128102594 T synonymous_variant LOW MKI67 4288 Transcript NM_001145966.2 protein_coding 12/14 - - - 8580 8166 2722 S tcG/tcA rs3191122,COSV64073363 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - - - 0.1781 - 0,1 0,1 - - - - - - . 10:128102594-128102594 T synonymous_variant LOW MKI67 4288 Transcript NM_002417.5 protein_coding 13/15 - - - 9660 9246 3082 S tcG/tcA rs3191122,COSV64073363 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - C C - - - 0.1781 - 0,1 0,1 - - - - - - . 10:128102594-128102594 T synonymous_variant LOW MKI67 4288 Transcript XM_006717864.4 protein_coding 2/4 - - - 7511 6924 2308 S tcG/tcA rs3191122,COSV64073363 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - - - 0.1781 - 0,1 0,1 - - - - - - . 10:128102594-128102594 T synonymous_variant LOW MKI67 4288 Transcript XM_011539818.3 protein_coding 10/12 - - - 8980 8214 2738 S tcG/tcA rs3191122,COSV64073363 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - - - 0.1781 - 0,1 0,1 - - - - - - . 10:128102594-128102594 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419618 enhancer - - - - - - - - - rs3191122,COSV64073363 - - - - - - - - - - - - - - - - - 0.1781 - 0,1 0,1 - - - - - - . 10:128103129-128103129 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 12/14 - - - 7826 7631 2544 Q/R cAg/cGg rs11016071,COSV64073179 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - T T - tolerated(1) - 0.2334 - 0,1 0,1 25374748 - - - - - . 10:128103129-128103129 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 13/15 - - - 9125 8711 2904 Q/R cAg/cGg rs11016071,COSV64073179 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - T T - tolerated(1) - 0.2334 - 0,1 0,1 25374748 - - - - - . 10:128103129-128103129 C upstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000464771.1 protein_coding_CDS_not_defined - - - - - - - - - rs11016071,COSV64073179 1 -1 - HGNC HGNC:7107 - - 3 - - Ensembl - T T - - - 0.2334 - 0,1 0,1 25374748 - - - - - . 10:128103129-128103129 C missense_variant MODERATE MKI67 4288 Transcript NM_001145966.2 protein_coding 12/14 - - - 8045 7631 2544 Q/R cAg/cGg rs11016071,COSV64073179 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - tolerated(1) - 0.2334 - 0,1 0,1 25374748 - - - - - . 10:128103129-128103129 C missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 13/15 - - - 9125 8711 2904 Q/R cAg/cGg rs11016071,COSV64073179 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - T T - tolerated(1) - 0.2334 - 0,1 0,1 25374748 - - - - - . 10:128103129-128103129 C missense_variant MODERATE MKI67 4288 Transcript XM_006717864.4 protein_coding 2/4 - - - 6976 6389 2130 Q/R cAg/cGg rs11016071,COSV64073179 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - - - 0.2334 - 0,1 0,1 25374748 - - - - - . 10:128103129-128103129 C missense_variant MODERATE MKI67 4288 Transcript XM_011539818.3 protein_coding 10/12 - - - 8445 7679 2560 Q/R cAg/cGg rs11016071,COSV64073179 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - - - 0.2334 - 0,1 0,1 25374748 - - - - - . 10:128103129-128103129 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419618 enhancer - - - - - - - - - rs11016071,COSV64073179 - - - - - - - - - - - - - - - - - 0.2334 - 0,1 0,1 25374748 - - - - - . 10:128103306-128103306 T missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 12/14 - - - 7649 7454 2485 R/H cGt/cAt rs11016072,COSV64074540 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - C C - tolerated(0.13) - 0.0785 - 0,1 0,1 - - - - - - . 10:128103306-128103306 T missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 13/15 - - - 8948 8534 2845 R/H cGt/cAt rs11016072,COSV64074540 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - C C - tolerated(0.05) - 0.0785 - 0,1 0,1 - - - - - - . 10:128103306-128103306 T upstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000464771.1 protein_coding_CDS_not_defined - - - - - - - - - rs11016072,COSV64074540 178 -1 - HGNC HGNC:7107 - - 3 - - Ensembl - C C - - - 0.0785 - 0,1 0,1 - - - - - - . 10:128103306-128103306 T missense_variant MODERATE MKI67 4288 Transcript NM_001145966.2 protein_coding 12/14 - - - 7868 7454 2485 R/H cGt/cAt rs11016072,COSV64074540 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - tolerated(0.13) - 0.0785 - 0,1 0,1 - - - - - - . 10:128103306-128103306 T missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 13/15 - - - 8948 8534 2845 R/H cGt/cAt rs11016072,COSV64074540 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - C C - tolerated(0.05) - 0.0785 - 0,1 0,1 - - - - - - . 10:128103306-128103306 T missense_variant MODERATE MKI67 4288 Transcript XM_006717864.4 protein_coding 2/4 - - - 6799 6212 2071 R/H cGt/cAt rs11016072,COSV64074540 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - - - 0.0785 - 0,1 0,1 - - - - - - . 10:128103306-128103306 T missense_variant MODERATE MKI67 4288 Transcript XM_011539818.3 protein_coding 10/12 - - - 8268 7502 2501 R/H cGt/cAt rs11016072,COSV64074540 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - - - 0.0785 - 0,1 0,1 - - - - - - . 10:128103306-128103306 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419618 enhancer - - - - - - - - - rs11016072,COSV64074540 - - - - - - - - - - - - - - - - - 0.0785 - 0,1 0,1 - - - - - - . 10:128103561-128103561 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 12/14 - - - 7394 7199 2400 D/G gAt/gGt rs10082391,COSV64073322 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - T T - tolerated(0.22) - 0.2320 - 0,1 0,1 16385451 - - - - - . 10:128103561-128103561 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 13/15 - - - 8693 8279 2760 D/G gAt/gGt rs10082391,COSV64073322 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - T T - tolerated(0.22) - 0.2320 - 0,1 0,1 16385451 - - - - - . 10:128103561-128103561 C upstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000464771.1 protein_coding_CDS_not_defined - - - - - - - - - rs10082391,COSV64073322 433 -1 - HGNC HGNC:7107 - - 3 - - Ensembl - T T - - - 0.2320 - 0,1 0,1 16385451 - - - - - . 10:128103561-128103561 C missense_variant MODERATE MKI67 4288 Transcript NM_001145966.2 protein_coding 12/14 - - - 7613 7199 2400 D/G gAt/gGt rs10082391,COSV64073322 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - tolerated(0.22) - 0.2320 - 0,1 0,1 16385451 - - - - - . 10:128103561-128103561 C missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 13/15 - - - 8693 8279 2760 D/G gAt/gGt rs10082391,COSV64073322 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - T T - tolerated(0.22) - 0.2320 - 0,1 0,1 16385451 - - - - - . 10:128103561-128103561 C missense_variant MODERATE MKI67 4288 Transcript XM_006717864.4 protein_coding 2/4 - - - 6544 5957 1986 D/G gAt/gGt rs10082391,COSV64073322 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - - - 0.2320 - 0,1 0,1 16385451 - - - - - . 10:128103561-128103561 C missense_variant MODERATE MKI67 4288 Transcript XM_011539818.3 protein_coding 10/12 - - - 8013 7247 2416 D/G gAt/gGt rs10082391,COSV64073322 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - - - 0.2320 - 0,1 0,1 16385451 - - - - - . 10:128103561-128103561 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419618 enhancer - - - - - - - - - rs10082391,COSV64073322 - - - - - - - - - - - - - - - - - 0.2320 - 0,1 0,1 16385451 - - - - - . 10:128104752-128104752 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 12/14 - - - 6203 6008 2003 N/S aAc/aGc rs7071768,COSV64074024 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - T T - tolerated(0.88) - 0.4637 - 0,1 0,1 30991985,34241624 - - - - - . 10:128104752-128104752 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 13/15 - - - 7502 7088 2363 N/S aAc/aGc rs7071768,COSV64074024 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - T T - tolerated(0.88) - 0.4637 - 0,1 0,1 30991985,34241624 - - - - - . 10:128104752-128104752 C upstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000464771.1 protein_coding_CDS_not_defined - - - - - - - - - rs7071768,COSV64074024 1624 -1 - HGNC HGNC:7107 - - 3 - - Ensembl - T T - - - 0.4637 - 0,1 0,1 30991985,34241624 - - - - - . 10:128104752-128104752 C missense_variant MODERATE MKI67 4288 Transcript NM_001145966.2 protein_coding 12/14 - - - 6422 6008 2003 N/S aAc/aGc rs7071768,COSV64074024 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - tolerated(0.88) - 0.4637 - 0,1 0,1 30991985,34241624 - - - - - . 10:128104752-128104752 C missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 13/15 - - - 7502 7088 2363 N/S aAc/aGc rs7071768,COSV64074024 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - T T - tolerated(0.88) - 0.4637 - 0,1 0,1 30991985,34241624 - - - - - . 10:128104752-128104752 C missense_variant MODERATE MKI67 4288 Transcript XM_006717864.4 protein_coding 2/4 - - - 5353 4766 1589 N/S aAc/aGc rs7071768,COSV64074024 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - - - 0.4637 - 0,1 0,1 30991985,34241624 - - - - - . 10:128104752-128104752 C missense_variant MODERATE MKI67 4288 Transcript XM_011539818.3 protein_coding 10/12 - - - 6822 6056 2019 N/S aAc/aGc rs7071768,COSV64074024 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - - - 0.4637 - 0,1 0,1 30991985,34241624 - - - - - . 10:128104752-128104752 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419618 enhancer - - - - - - - - - rs7071768,COSV64074024 - - - - - - - - - - - - - - - - - 0.4637 - 0,1 0,1 30991985,34241624 - - - - - . 10:128104830-128104830 T missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 12/14 - - - 6125 5930 1977 T/N aCt/aAt rs7083622,COSV64074562 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - G G - tolerated(0.06) - 0.0787 - 0,1 0,1 - - - - - - . 10:128104830-128104830 T missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 13/15 - - - 7424 7010 2337 T/N aCt/aAt rs7083622,COSV64074562 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - G G - tolerated(0.09) - 0.0787 - 0,1 0,1 - - - - - - . 10:128104830-128104830 T upstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000464771.1 protein_coding_CDS_not_defined - - - - - - - - - rs7083622,COSV64074562 1702 -1 - HGNC HGNC:7107 - - 3 - - Ensembl - G G - - - 0.0787 - 0,1 0,1 - - - - - - . 10:128104830-128104830 T missense_variant MODERATE MKI67 4288 Transcript NM_001145966.2 protein_coding 12/14 - - - 6344 5930 1977 T/N aCt/aAt rs7083622,COSV64074562 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - G G - tolerated(0.06) - 0.0787 - 0,1 0,1 - - - - - - . 10:128104830-128104830 T missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 13/15 - - - 7424 7010 2337 T/N aCt/aAt rs7083622,COSV64074562 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - G G - tolerated(0.09) - 0.0787 - 0,1 0,1 - - - - - - . 10:128104830-128104830 T missense_variant MODERATE MKI67 4288 Transcript XM_006717864.4 protein_coding 2/4 - - - 5275 4688 1563 T/N aCt/aAt rs7083622,COSV64074562 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - G G - - - 0.0787 - 0,1 0,1 - - - - - - . 10:128104830-128104830 T missense_variant MODERATE MKI67 4288 Transcript XM_011539818.3 protein_coding 10/12 - - - 6744 5978 1993 T/N aCt/aAt rs7083622,COSV64074562 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - G G - - - 0.0787 - 0,1 0,1 - - - - - - . 10:128104830-128104830 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419618 enhancer - - - - - - - - - rs7083622,COSV64074562 - - - - - - - - - - - - - - - - - 0.0787 - 0,1 0,1 - - - - - - . 10:128105201-128105201 G synonymous_variant LOW MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 12/14 - - - 5754 5559 1853 H caT/caC rs2857028,COSV64074634 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - A A - - - 0.1909 - 0,1 0,1 - - - - - - . 10:128105201-128105201 G synonymous_variant LOW MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 13/15 - - - 7053 6639 2213 H caT/caC rs2857028,COSV64074634 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - A A - - - 0.1909 - 0,1 0,1 - - - - - - . 10:128105201-128105201 G upstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000464771.1 protein_coding_CDS_not_defined - - - - - - - - - rs2857028,COSV64074634 2073 -1 - HGNC HGNC:7107 - - 3 - - Ensembl - A A - - - 0.1909 - 0,1 0,1 - - - - - - . 10:128105201-128105201 G synonymous_variant LOW MKI67 4288 Transcript NM_001145966.2 protein_coding 12/14 - - - 5973 5559 1853 H caT/caC rs2857028,COSV64074634 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - A A - - - 0.1909 - 0,1 0,1 - - - - - - . 10:128105201-128105201 G synonymous_variant LOW MKI67 4288 Transcript NM_002417.5 protein_coding 13/15 - - - 7053 6639 2213 H caT/caC rs2857028,COSV64074634 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - A A - - - 0.1909 - 0,1 0,1 - - - - - - . 10:128105201-128105201 G synonymous_variant LOW MKI67 4288 Transcript XM_006717864.4 protein_coding 2/4 - - - 4904 4317 1439 H caT/caC rs2857028,COSV64074634 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - A A - - - 0.1909 - 0,1 0,1 - - - - - - . 10:128105201-128105201 G synonymous_variant LOW MKI67 4288 Transcript XM_011539818.3 protein_coding 10/12 - - - 6373 5607 1869 H caT/caC rs2857028,COSV64074634 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - A A - - - 0.1909 - 0,1 0,1 - - - - - - . 10:128105201-128105201 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419618 enhancer - - - - - - - - - rs2857028,COSV64074634 - - - - - - - - - - - - - - - - - 0.1909 - 0,1 0,1 - - - - - - . 10:128106213-128106213 T missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 12/14 - - - 4742 4547 1516 R/Q cGg/cAg rs11591817,COSV64073328 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - C C - tolerated(0.4) - 0.2224 - 0,1 0,1 30991985 - - - - - . 10:128106213-128106213 T missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 13/15 - - - 6041 5627 1876 R/Q cGg/cAg rs11591817,COSV64073328 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - C C - tolerated(0.39) - 0.2224 - 0,1 0,1 30991985 - - - - - . 10:128106213-128106213 T upstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000464771.1 protein_coding_CDS_not_defined - - - - - - - - - rs11591817,COSV64073328 3085 -1 - HGNC HGNC:7107 - - 3 - - Ensembl - C C - - - 0.2224 - 0,1 0,1 30991985 - - - - - . 10:128106213-128106213 T missense_variant MODERATE MKI67 4288 Transcript NM_001145966.2 protein_coding 12/14 - - - 4961 4547 1516 R/Q cGg/cAg rs11591817,COSV64073328 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - tolerated(0.4) - 0.2224 - 0,1 0,1 30991985 - - - - - . 10:128106213-128106213 T missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 13/15 - - - 6041 5627 1876 R/Q cGg/cAg rs11591817,COSV64073328 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - C C - tolerated(0.39) - 0.2224 - 0,1 0,1 30991985 - - - - - . 10:128106213-128106213 T missense_variant MODERATE MKI67 4288 Transcript XM_006717864.4 protein_coding 2/4 - - - 3892 3305 1102 R/Q cGg/cAg rs11591817,COSV64073328 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - - - 0.2224 - 0,1 0,1 30991985 - - - - - . 10:128106213-128106213 T missense_variant MODERATE MKI67 4288 Transcript XM_011539818.3 protein_coding 10/12 - - - 5361 4595 1532 R/Q cGg/cAg rs11591817,COSV64073328 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - - - 0.2224 - 0,1 0,1 30991985 - - - - - . 10:128107632-128107632 A missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 12/14 - - - 3323 3128 1043 E/V gAg/gTg rs3740423,COSV64073379 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - T T - deleterious(0.01) - 0.1400 - 0,1 0,1 16385451,32818236,35559026 - - - - - . 10:128107632-128107632 A missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 13/15 - - - 4622 4208 1403 E/V gAg/gTg rs3740423,COSV64073379 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - T T - deleterious(0) - 0.1400 - 0,1 0,1 16385451,32818236,35559026 - - - - - . 10:128107632-128107632 A upstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000464771.1 protein_coding_CDS_not_defined - - - - - - - - - rs3740423,COSV64073379 4504 -1 - HGNC HGNC:7107 - - 3 - - Ensembl - T T - - - 0.1400 - 0,1 0,1 16385451,32818236,35559026 - - - - - . 10:128107632-128107632 A downstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000484853.1 protein_coding_CDS_not_defined - - - - - - - - - rs3740423,COSV64073379 3888 -1 - HGNC HGNC:7107 - - 2 - - Ensembl - T T - - - 0.1400 - 0,1 0,1 16385451,32818236,35559026 - - - - - . 10:128107632-128107632 A missense_variant MODERATE MKI67 4288 Transcript NM_001145966.2 protein_coding 12/14 - - - 3542 3128 1043 E/V gAg/gTg rs3740423,COSV64073379 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - deleterious(0.01) - 0.1400 - 0,1 0,1 16385451,32818236,35559026 - - - - - . 10:128107632-128107632 A missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 13/15 - - - 4622 4208 1403 E/V gAg/gTg rs3740423,COSV64073379 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - T T - deleterious(0) - 0.1400 - 0,1 0,1 16385451,32818236,35559026 - - - - - . 10:128107632-128107632 A missense_variant MODERATE MKI67 4288 Transcript XM_006717864.4 protein_coding 2/4 - - - 2473 1886 629 E/V gAg/gTg rs3740423,COSV64073379 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - - - 0.1400 - 0,1 0,1 16385451,32818236,35559026 - - - - - . 10:128107632-128107632 A missense_variant MODERATE MKI67 4288 Transcript XM_011539818.3 protein_coding 10/12 - - - 3942 3176 1059 E/V gAg/gTg rs3740423,COSV64073379 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - - - 0.1400 - 0,1 0,1 16385451,32818236,35559026 - - - - - . 10:128108204-128108204 T synonymous_variant LOW MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 12/14 - - - 2751 2556 852 Q caG/caA rs4750936,COSV64073331 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - C C - - - 0.2324 - 0,1 0,1 - - - - - - . 10:128108204-128108204 T synonymous_variant LOW MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 13/15 - - - 4050 3636 1212 Q caG/caA rs4750936,COSV64073331 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - C C - - - 0.2324 - 0,1 0,1 - - - - - - . 10:128108204-128108204 T downstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000484853.1 protein_coding_CDS_not_defined - - - - - - - - - rs4750936,COSV64073331 3316 -1 - HGNC HGNC:7107 - - 2 - - Ensembl - C C - - - 0.2324 - 0,1 0,1 - - - - - - . 10:128108204-128108204 T synonymous_variant LOW MKI67 4288 Transcript NM_001145966.2 protein_coding 12/14 - - - 2970 2556 852 Q caG/caA rs4750936,COSV64073331 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - - - 0.2324 - 0,1 0,1 - - - - - - . 10:128108204-128108204 T synonymous_variant LOW MKI67 4288 Transcript NM_002417.5 protein_coding 13/15 - - - 4050 3636 1212 Q caG/caA rs4750936,COSV64073331 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - C C - - - 0.2324 - 0,1 0,1 - - - - - - . 10:128108204-128108204 T synonymous_variant LOW MKI67 4288 Transcript XM_006717864.4 protein_coding 2/4 - - - 1901 1314 438 Q caG/caA rs4750936,COSV64073331 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - - - 0.2324 - 0,1 0,1 - - - - - - . 10:128108204-128108204 T synonymous_variant LOW MKI67 4288 Transcript XM_011539818.3 protein_coding 10/12 - - - 3370 2604 868 Q caG/caA rs4750936,COSV64073331 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - - - 0.2324 - 0,1 0,1 - - - - - - . 10:128108716-128108716 T missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 12/14 - - - 2239 2044 682 G/S Ggc/Agc rs2152143,COSV64072293,COSV64072617 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - C C - tolerated(0.27) - 0.1905 - 0,1,1 0,1,1 16385451,35559026 - - - - - . 10:128108716-128108716 T missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 13/15 - - - 3538 3124 1042 G/S Ggc/Agc rs2152143,COSV64072293,COSV64072617 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - C C - tolerated(0.21) - 0.1905 - 0,1,1 0,1,1 16385451,35559026 - - - - - . 10:128108716-128108716 T downstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000484853.1 protein_coding_CDS_not_defined - - - - - - - - - rs2152143,COSV64072293,COSV64072617 2804 -1 - HGNC HGNC:7107 - - 2 - - Ensembl - C C - - - 0.1905 - 0,1,1 0,1,1 16385451,35559026 - - - - - . 10:128108716-128108716 T missense_variant MODERATE MKI67 4288 Transcript NM_001145966.2 protein_coding 12/14 - - - 2458 2044 682 G/S Ggc/Agc rs2152143,COSV64072293,COSV64072617 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - tolerated(0.27) - 0.1905 - 0,1,1 0,1,1 16385451,35559026 - - - - - . 10:128108716-128108716 T missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 13/15 - - - 3538 3124 1042 G/S Ggc/Agc rs2152143,COSV64072293,COSV64072617 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - C C - tolerated(0.21) - 0.1905 - 0,1,1 0,1,1 16385451,35559026 - - - - - . 10:128108716-128108716 T missense_variant MODERATE MKI67 4288 Transcript XM_006717864.4 protein_coding 2/4 - - - 1389 802 268 G/S Ggc/Agc rs2152143,COSV64072293,COSV64072617 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - - - 0.1905 - 0,1,1 0,1,1 16385451,35559026 - - - - - . 10:128108716-128108716 T missense_variant MODERATE MKI67 4288 Transcript XM_011539818.3 protein_coding 10/12 - - - 2858 2092 698 G/S Ggc/Agc rs2152143,COSV64072293,COSV64072617 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - C C - - - 0.1905 - 0,1,1 0,1,1 16385451,35559026 - - - - - . 10:128109280-128109280 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 12/14 - - - 1675 1480 494 L/V Ctg/Gtg rs2240,COSV64073334 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - G G - tolerated(0.76) - 0.2328 - 0,1 0,1 16385451 - - - - - . 10:128109280-128109280 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 13/15 - - - 2974 2560 854 L/V Ctg/Gtg rs2240,COSV64073334 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - G G - tolerated(0.79) - 0.2328 - 0,1 0,1 16385451 - - - - - . 10:128109280-128109280 C downstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000484853.1 protein_coding_CDS_not_defined - - - - - - - - - rs2240,COSV64073334 2240 -1 - HGNC HGNC:7107 - - 2 - - Ensembl - G G - - - 0.2328 - 0,1 0,1 16385451 - - - - - . 10:128109280-128109280 C missense_variant MODERATE MKI67 4288 Transcript NM_001145966.2 protein_coding 12/14 - - - 1894 1480 494 L/V Ctg/Gtg rs2240,COSV64073334 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - G G - tolerated(0.76) - 0.2328 - 0,1 0,1 16385451 - - - - - . 10:128109280-128109280 C missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 13/15 - - - 2974 2560 854 L/V Ctg/Gtg rs2240,COSV64073334 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - G G - tolerated(0.79) - 0.2328 - 0,1 0,1 16385451 - - - - - . 10:128109280-128109280 C missense_variant MODERATE MKI67 4288 Transcript XM_006717864.4 protein_coding 2/4 - - - 825 238 80 L/V Ctg/Gtg rs2240,COSV64073334 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - G G - - - 0.2328 - 0,1 0,1 16385451 - - - - - . 10:128109280-128109280 C missense_variant MODERATE MKI67 4288 Transcript XM_011539818.3 protein_coding 10/12 - - - 2294 1528 510 L/V Ctg/Gtg rs2240,COSV64073334 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - G G - - - 0.2328 - 0,1 0,1 16385451 - - - - - . 10:128115368-128115368 T intron_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding - 6/13 - - - - - - - rs141776380,COSV64074640 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - G G - - - 0.0020 benign 0,1 1,1 - - - - - - . 10:128115368-128115368 T missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 7/15 - - - 1454 1040 347 T/N aCc/aAc rs141776380,COSV64074640 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - G G - deleterious(0) - 0.0020 benign 0,1 1,1 - - - - - - . 10:128115368-128115368 T downstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000478293.1 protein_coding_CDS_not_defined - - - - - - - - - rs141776380,COSV64074640 142 -1 - HGNC HGNC:7107 - - 5 - - Ensembl - G G - - - 0.0020 benign 0,1 1,1 - - - - - - . 10:128115368-128115368 T upstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000484853.1 protein_coding_CDS_not_defined - - - - - - - - - rs141776380,COSV64074640 2919 -1 - HGNC HGNC:7107 - - 2 - - Ensembl - G G - - - 0.0020 benign 0,1 1,1 - - - - - - . 10:128115368-128115368 T intron_variant MODIFIER MKI67 4288 Transcript NM_001145966.2 protein_coding - 6/13 - - - - - - - rs141776380,COSV64074640 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - G G - - - 0.0020 benign 0,1 1,1 - - - - - - . 10:128115368-128115368 T missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 7/15 - - - 1454 1040 347 T/N aCc/aAc rs141776380,COSV64074640 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - G G - deleterious(0) - 0.0020 benign 0,1 1,1 - - - - - - . 10:128115368-128115368 T upstream_gene_variant MODIFIER MKI67 4288 Transcript XM_006717864.4 protein_coding - - - - - - - - - rs141776380,COSV64074640 4835 -1 - EntrezGene HGNC:7107 - - - - - RefSeq - G G - - - 0.0020 benign 0,1 1,1 - - - - - - . 10:128115368-128115368 T missense_variant MODERATE MKI67 4288 Transcript XM_011539818.3 protein_coding 4/12 - - - 774 8 3 T/N aCc/aAc rs141776380,COSV64074640 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - G G - - - 0.0020 benign 0,1 1,1 - - - - - - . 10:128115368-128115368 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000419620 enhancer - - - - - - - - - rs141776380,COSV64074640 - - - - - - - - - - - - - - - - - 0.0020 benign 0,1 1,1 - - - - - - . 10:128115696-128115696 T intron_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding - 6/13 - - - - - - - rs7095325,COSV64074577 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - A A - - - 0.2534 - 0,1 0,1 - - - - - - . 10:128115696-128115696 T missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 7/15 - - - 1126 712 238 W/R Tgg/Agg rs7095325,COSV64074577 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - A A - tolerated(1) - 0.2534 - 0,1 0,1 - - - - - - . 10:128115696-128115696 T non_coding_transcript_exon_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000478293.1 protein_coding_CDS_not_defined 4/4 - - - 468 - - - - rs7095325,COSV64074577 - -1 - HGNC HGNC:7107 - - 5 - - Ensembl - A A - - - 0.2534 - 0,1 0,1 - - - - - - . 10:128115696-128115696 T upstream_gene_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000484853.1 protein_coding_CDS_not_defined - - - - - - - - - rs7095325,COSV64074577 3247 -1 - HGNC HGNC:7107 - - 2 - - Ensembl - A A - - - 0.2534 - 0,1 0,1 - - - - - - . 10:128115696-128115696 T intron_variant MODIFIER MKI67 4288 Transcript NM_001145966.2 protein_coding - 6/13 - - - - - - - rs7095325,COSV64074577 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - A A - - - 0.2534 - 0,1 0,1 - - - - - - . 10:128115696-128115696 T missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 7/15 - - - 1126 712 238 W/R Tgg/Agg rs7095325,COSV64074577 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - A A - tolerated(1) - 0.2534 - 0,1 0,1 - - - - - - . 10:128115696-128115696 T 5_prime_UTR_variant MODIFIER MKI67 4288 Transcript XM_011539818.3 protein_coding 4/12 - - - 446 - - - - rs7095325,COSV64074577 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - A A - - - 0.2534 - 0,1 0,1 - - - - - - . 10:128119296-128119296 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368653.7 protein_coding 5/14 - - - 506 311 104 N/S aAt/aGt rs2071498,COSV64072622 - -1 - HGNC HGNC:7107 - - 2 A2 - Ensembl - T T - deleterious(0.03) - 0.6340 - 0,1 0,1 - - - - - - . 10:128119296-128119296 C missense_variant MODERATE MKI67 ENSG00000148773 Transcript ENST00000368654.8 protein_coding 5/15 - - - 725 311 104 N/S aAt/aGt rs2071498,COSV64072622 - -1 - HGNC HGNC:7107 NM_002417.5 - 2 P2 - Ensembl - T T - deleterious(0.03) - 0.6340 - 0,1 0,1 - - - - - - . 10:128119296-128119296 C non_coding_transcript_exon_variant MODIFIER MKI67 ENSG00000148773 Transcript ENST00000478293.1 protein_coding_CDS_not_defined 2/4 - - - 67 - - - - rs2071498,COSV64072622 - -1 - HGNC HGNC:7107 - - 5 - - Ensembl - T T - - - 0.6340 - 0,1 0,1 - - - - - - . 10:128119296-128119296 C missense_variant MODERATE MKI67 4288 Transcript NM_001145966.2 protein_coding 5/14 - - - 725 311 104 N/S aAt/aGt rs2071498,COSV64072622 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - deleterious(0.03) - 0.6340 - 0,1 0,1 - - - - - - . 10:128119296-128119296 C missense_variant MODERATE MKI67 4288 Transcript NM_002417.5 protein_coding 5/15 - - - 725 311 104 N/S aAt/aGt rs2071498,COSV64072622 - -1 - EntrezGene HGNC:7107 ENST00000368654.8 - - - - RefSeq - T T - deleterious(0.03) - 0.6340 - 0,1 0,1 - - - - - - . 10:128119296-128119296 C 5_prime_UTR_variant MODIFIER MKI67 4288 Transcript XM_011539818.3 protein_coding 2/12 - - - 45 - - - - rs2071498,COSV64072622 - -1 - EntrezGene HGNC:7107 - - - - - RefSeq - T T - - - 0.6340 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 500 - - - - rs1177699,COSV69991367 - 1 - HGNC HGNC:25111 - - - - - Ensembl - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - rs1177699,COSV69991367 - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - rs1177699,COSV69991367 1547 -1 - - - - - - - - Ensembl - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - rs1177699,COSV69991367 - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - rs1177699,COSV69991367 - -1 - HGNC HGNC:48677 - - - - - Ensembl - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - rs1177699,COSV69991367 - -1 - HGNC HGNC:48677 - - - - - Ensembl - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - rs1177699,COSV69991367 - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - rs1177699,COSV69991367 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 537 - - - - rs1177699,COSV69991367 - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - rs1177699,COSV69991367 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - rs1177699,COSV69991367 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - rs1177699,COSV69991367 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - rs1177699,COSV69991367 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106545-130106545 T upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - rs1177699,COSV69991367 4368 1 - EntrezGene - - - - - - RefSeq - C C - - - 0.2348 - 0,1 0,1 - - - - - - . 10:130106744-130106744 A non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 699 - - - - - - 1 - HGNC HGNC:25111 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130106744-130106744 A intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - - - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:130106744-130106744 A upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - - 1746 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130106744-130106744 A intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - - - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:130106744-130106744 A intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - - - -1 - HGNC HGNC:48677 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130106744-130106744 A intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - - - -1 - HGNC HGNC:48677 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130106744-130106744 A intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130106744-130106744 A intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130106744-130106744 A non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 736 - - - - - - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130106744-130106744 A intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130106744-130106744 A intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130106744-130106744 A intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130106744-130106744 A intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130106744-130106744 A upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - - 4169 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130106755-130106755 G non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 710 - - - - rs1325563858 - 1 - HGNC HGNC:25111 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:130106755-130106755 G intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - rs1325563858 - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:130106755-130106755 G upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - rs1325563858 1757 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:130106755-130106755 G intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - rs1325563858 - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:130106755-130106755 G intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - rs1325563858 - -1 - HGNC HGNC:48677 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:130106755-130106755 G intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - rs1325563858 - -1 - HGNC HGNC:48677 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:130106755-130106755 G intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - rs1325563858 - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130106755-130106755 G intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - rs1325563858 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130106755-130106755 G non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 747 - - - - rs1325563858 - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130106755-130106755 G intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - rs1325563858 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130106755-130106755 G intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - rs1325563858 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130106755-130106755 G intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - rs1325563858 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130106755-130106755 G intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - rs1325563858 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130106755-130106755 G upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - rs1325563858 4158 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130106801-130106801 C non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 756 - - - - - - 1 - HGNC HGNC:25111 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:130106801-130106801 C intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - - - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:130106801-130106801 C upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - - 1803 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:130106801-130106801 C intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - - - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:130106801-130106801 C intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - - - -1 - HGNC HGNC:48677 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:130106801-130106801 C intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - - - -1 - HGNC HGNC:48677 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:130106801-130106801 C intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130106801-130106801 C intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130106801-130106801 C non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 793 - - - - - - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130106801-130106801 C intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130106801-130106801 C intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130106801-130106801 C intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130106801-130106801 C intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130106801-130106801 C upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - - 4112 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130107112-130107112 A non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 1067 - - - - rs529158313,COSV69991523 - 1 - HGNC HGNC:25111 - - - - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - rs529158313,COSV69991523 - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - rs529158313,COSV69991523 2114 -1 - - - - - - - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - rs529158313,COSV69991523 - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - rs529158313,COSV69991523 - -1 - HGNC HGNC:48677 - - - - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - rs529158313,COSV69991523 - -1 - HGNC HGNC:48677 - - - - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - rs529158313,COSV69991523 - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - rs529158313,COSV69991523 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 1104 - - - - rs529158313,COSV69991523 - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - rs529158313,COSV69991523 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - rs529158313,COSV69991523 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - rs529158313,COSV69991523 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - rs529158313,COSV69991523 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107112-130107112 A upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - rs529158313,COSV69991523 3801 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:130107207-130107207 A non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 1162 - - - - - - 1 - HGNC HGNC:25111 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130107207-130107207 A intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - - - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:130107207-130107207 A upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - - 2209 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130107207-130107207 A intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - - - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:130107207-130107207 A intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - - - -1 - HGNC HGNC:48677 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130107207-130107207 A intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - - - -1 - HGNC HGNC:48677 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130107207-130107207 A intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107207-130107207 A intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107207-130107207 A non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 1199 - - - - - - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107207-130107207 A intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107207-130107207 A intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107207-130107207 A intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107207-130107207 A intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107207-130107207 A upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - - 3706 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107241-130107241 T non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 1196 - - - - - - 1 - HGNC HGNC:25111 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130107241-130107241 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - - - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:130107241-130107241 T upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - - 2243 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130107241-130107241 T intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - - - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:130107241-130107241 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - - - -1 - HGNC HGNC:48677 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130107241-130107241 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - - - -1 - HGNC HGNC:48677 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130107241-130107241 T intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - - - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107241-130107241 T intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107241-130107241 T non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 1233 - - - - - - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107241-130107241 T intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107241-130107241 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107241-130107241 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107241-130107241 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - - - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107241-130107241 T upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - - 3672 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107462-130107462 G non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 1417 - - - - rs183937805 - 1 - HGNC HGNC:25111 - - - - - Ensembl - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - rs183937805 - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - rs183937805 2464 -1 - - - - - - - - Ensembl - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - rs183937805 - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - rs183937805 - -1 - HGNC HGNC:48677 - - - - - Ensembl - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - rs183937805 - -1 - HGNC HGNC:48677 - - - - - Ensembl - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - rs183937805 - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - rs183937805 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 1454 - - - - rs183937805 - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - rs183937805 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - rs183937805 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - rs183937805 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - rs183937805 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - 0.0036 - - - - - - - - - . 10:130107462-130107462 G upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - rs183937805 3451 1 - EntrezGene - - - - - - RefSeq - A A - - - 0.0036 - - - - - - - - - . 10:130107464-130107464 C non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 1419 - - - - rs761056088 - 1 - HGNC HGNC:25111 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:130107464-130107464 C intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - rs761056088 - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - T T - - - - - - - - - - - - - . 10:130107464-130107464 C upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - rs761056088 2466 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:130107464-130107464 C intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - rs761056088 - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - T T - - - - - - - - - - - - - . 10:130107464-130107464 C intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - rs761056088 - -1 - HGNC HGNC:48677 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:130107464-130107464 C intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - rs761056088 - -1 - HGNC HGNC:48677 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:130107464-130107464 C intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - rs761056088 - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130107464-130107464 C intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - rs761056088 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130107464-130107464 C non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 1456 - - - - rs761056088 - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130107464-130107464 C intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - rs761056088 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130107464-130107464 C intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - rs761056088 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130107464-130107464 C intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - rs761056088 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130107464-130107464 C intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - rs761056088 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130107464-130107464 C upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - rs761056088 3449 1 - EntrezGene - - - - - - RefSeq - T T - - - - - - - - - - - - - . 10:130107779-130107779 T non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 1734 - - - - rs1461604543 - 1 - HGNC HGNC:25111 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:130107779-130107779 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - rs1461604543 - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - A A - - - - - - - - - - - - - . 10:130107779-130107779 T upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - rs1461604543 2781 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:130107779-130107779 T intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - rs1461604543 - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - A A - - - - - - - - - - - - - . 10:130107779-130107779 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - rs1461604543 - -1 - HGNC HGNC:48677 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:130107779-130107779 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - rs1461604543 - -1 - HGNC HGNC:48677 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:130107779-130107779 T intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - rs1461604543 - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130107779-130107779 T intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - rs1461604543 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130107779-130107779 T non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 1771 - - - - rs1461604543 - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130107779-130107779 T intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - rs1461604543 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130107779-130107779 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - rs1461604543 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130107779-130107779 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - rs1461604543 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130107779-130107779 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - rs1461604543 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130107779-130107779 T upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - rs1461604543 3134 1 - EntrezGene - - - - - - RefSeq - A A - - - - - - - - - - - - - . 10:130107923-130107923 C non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 1878 - - - - rs567092161 - 1 - HGNC HGNC:25111 - - - - - Ensembl - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - rs567092161 - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - rs567092161 2925 -1 - - - - - - - - Ensembl - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - rs567092161 - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - rs567092161 - -1 - HGNC HGNC:48677 - - - - - Ensembl - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - rs567092161 - -1 - HGNC HGNC:48677 - - - - - Ensembl - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - rs567092161 - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - rs567092161 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 1915 - - - - rs567092161 - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - rs567092161 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - rs567092161 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - rs567092161 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - rs567092161 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - 0.0006 - - - - - - - - - . 10:130107923-130107923 C upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - rs567092161 2990 1 - EntrezGene - - - - - - RefSeq - T T - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 1891 - - - - rs538956395 - 1 - HGNC HGNC:25111 - - - - - Ensembl - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - rs538956395 - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - rs538956395 2938 -1 - - - - - - - - Ensembl - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - rs538956395 - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - rs538956395 - -1 - HGNC HGNC:48677 - - - - - Ensembl - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - rs538956395 - -1 - HGNC HGNC:48677 - - - - - Ensembl - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - rs538956395 - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - rs538956395 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 1928 - - - - rs538956395 - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - rs538956395 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - rs538956395 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - rs538956395 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - rs538956395 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - 0.0006 - - - - - - - - - . 10:130107936-130107936 A upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - rs538956395 2977 1 - EntrezGene - - - - - - RefSeq - G G - - - 0.0006 - - - - - - - - - . 10:130107978-130107978 T non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 1933 - - - - rs752021153 - 1 - HGNC HGNC:25111 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130107978-130107978 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - rs752021153 - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - C C - - - - - - - - - - - - - . 10:130107978-130107978 T upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - rs752021153 2980 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130107978-130107978 T intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - rs752021153 - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - C C - - - - - - - - - - - - - . 10:130107978-130107978 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - rs752021153 - -1 - HGNC HGNC:48677 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130107978-130107978 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - rs752021153 - -1 - HGNC HGNC:48677 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:130107978-130107978 T intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - rs752021153 - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107978-130107978 T intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - rs752021153 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107978-130107978 T non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 1970 - - - - rs752021153 - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107978-130107978 T intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - rs752021153 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107978-130107978 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - rs752021153 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107978-130107978 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - rs752021153 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107978-130107978 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - rs752021153 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130107978-130107978 T upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - rs752021153 2935 1 - EntrezGene - - - - - - RefSeq - C C - - - - - - - - - - - - - . 10:130108130-130108130 T non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 2085 - - - - rs546636759 - 1 - HGNC HGNC:25111 - - - - - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - rs546636759 - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - rs546636759 3132 -1 - - - - - - - - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - rs546636759 - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - rs546636759 - -1 - HGNC HGNC:48677 - - - - - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - rs546636759 - -1 - HGNC HGNC:48677 - - - - - Ensembl - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - rs546636759 - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - rs546636759 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 2122 - - - - rs546636759 - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - rs546636759 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - rs546636759 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - rs546636759 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - rs546636759 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:130108130-130108130 T upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - rs546636759 2783 1 - EntrezGene - - - - - - RefSeq - C C - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 2087 - - - - rs560542485 - 1 - HGNC HGNC:25111 - - - - - Ensembl - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - rs560542485 - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - rs560542485 3134 -1 - - - - - - - - Ensembl - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - rs560542485 - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - rs560542485 - -1 - HGNC HGNC:48677 - - - - - Ensembl - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - rs560542485 - -1 - HGNC HGNC:48677 - - - - - Ensembl - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - rs560542485 - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - rs560542485 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 2124 - - - - rs560542485 - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - rs560542485 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - rs560542485 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - rs560542485 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - rs560542485 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - T T - - - 0.0036 - - - - - - - - - . 10:130108132-130108132 C upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - rs560542485 2781 1 - EntrezGene - - - - - - RefSeq - T T - - - 0.0036 - - - - - - - - - . 10:130108219-130108219 T non_coding_transcript_exon_variant MODIFIER CTAGE7P ENSG00000233122 Transcript ENST00000435712.1 processed_pseudogene 1/1 - - - 2174 - - - - rs768797786,COSV69991417 - 1 - HGNC HGNC:25111 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000456581.1 nonsense_mediated_decay - 1/5 - - - - - - - rs768797786,COSV69991417 - -1 - HGNC HGNC:48677 - - 2 - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T upstream_gene_variant MODIFIER - ENSG00000277218 Transcript ENST00000612008.1 lncRNA - - - - - - - - - rs768797786,COSV69991417 3221 -1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T intron_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000637128.2 protein_coding - 1/3 - - - - - - - rs768797786,COSV69991417 - -1 - HGNC HGNC:48677 NM_001355042.2 - 5 P1 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000643056.1 nonsense_mediated_decay - 1/5 - - - - - - - rs768797786,COSV69991417 - -1 - HGNC HGNC:48677 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T intron_variant,NMD_transcript_variant MODIFIER C10orf143 ENSG00000237489 Transcript ENST00000647406.1 nonsense_mediated_decay - 1/7 - - - - - - - rs768797786,COSV69991417 - -1 - HGNC HGNC:48677 - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T intron_variant MODIFIER C10orf143 387723 Transcript NM_001355042.2 protein_coding - 1/3 - - - - - - - rs768797786,COSV69991417 - -1 - EntrezGene HGNC:48677 ENST00000637128.2 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_034125.2 misc_RNA - 1/7 - - - - - - - rs768797786,COSV69991417 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T non_coding_transcript_exon_variant MODIFIER CTAGE7P 119437 Transcript NR_044994.1 transcribed_pseudogene 1/1 - - - 2211 - - - - rs768797786,COSV69991417 - 1 - EntrezGene HGNC:25111 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T intron_variant,non_coding_transcript_variant MODIFIER C10orf143 387723 Transcript NR_149170.2 misc_RNA - 1/4 - - - - - - - rs768797786,COSV69991417 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448007.2 protein_coding - 1/5 - - - - - - - rs768797786,COSV69991417 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448008.2 protein_coding - 1/4 - - - - - - - rs768797786,COSV69991417 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T intron_variant MODIFIER C10orf143 387723 Transcript XM_024448009.2 protein_coding - 1/4 - - - - - - - rs768797786,COSV69991417 - -1 - EntrezGene HGNC:48677 - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:130108219-130108219 T upstream_gene_variant MODIFIER LOC102724883 102724883 Transcript XR_007062391.1 lncRNA - - - - - - - - - rs768797786,COSV69991417 2694 1 - EntrezGene - - - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000298622.9 protein_coding 6/24 - - - 1236 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - 5 P4 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000653512.1 protein_coding 7/24 - - - 2744 1230 410 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000653623.1 protein_coding 6/23 - - - 1737 1014 338 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000657318.1 protein_coding 6/23 - - - 1207 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000657785.1 protein_coding 7/24 - - - 1435 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000657994.1 protein_coding 4/22 - - - 708 708 236 D gaT/gaC rs75996870,COSV53821367 - 1 cds_start_NF HGNC HGNC:23523 - - - - - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000658847.1 protein_coding 6/24 - - - 1217 987 329 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000659050.1 protein_coding 6/23 - - - 1755 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000660144.1 protein_coding 7/23 - - - 1956 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000661339.1 protein_coding 6/23 - - - 1835 987 329 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C non_coding_transcript_exon_variant MODIFIER JAKMIP3 ENSG00000188385 Transcript ENST00000662086.1 protein_coding_CDS_not_defined 5/20 - - - 981 - - - - rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - - - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000664697.1 protein_coding 7/24 - - - 1956 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - P4 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C upstream_gene_variant MODIFIER JAKMIP3 ENSG00000188385 Transcript ENST00000665805.1 protein_coding - - - - - - - - - rs75996870,COSV53821367 3390 1 cds_start_NF HGNC HGNC:23523 - - - - - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000666210.1 protein_coding 7/24 - - - 1420 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000666974.1 protein_coding 7/25 - - - 1487 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000668452.1 protein_coding 7/24 - - - 1446 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - P4 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000669493.1 protein_coding 6/22 - - - 2781 1014 338 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000669891.1 protein_coding 5/21 - - - 664 666 222 D gaT/gaC rs75996870,COSV53821367 - 1 cds_start_NF,cds_end_NF HGNC HGNC:23523 - - - - - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000670120.1 protein_coding 6/23 - - - 2528 1014 338 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000670443.1 protein_coding 5/22 - - - 2224 765 255 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 - - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 ENSG00000188385 Transcript ENST00000684848.1 protein_coding 7/24 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - HGNC HGNC:23523 NM_001323087.2 - - A2 - Ensembl - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001105521.4 protein_coding 7/25 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001323086.2 protein_coding 7/24 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001323087.2 protein_coding 7/24 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 ENST00000684848.1 - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001323088.2 protein_coding 7/24 - - - 1483 1230 410 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001323089.2 protein_coding 6/23 - - - 1273 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001323090.2 protein_coding 7/24 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392039.1 protein_coding 7/25 - - - 1950 1230 410 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392040.1 protein_coding 7/25 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392041.1 protein_coding 7/25 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392042.1 protein_coding 7/25 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392043.1 protein_coding 7/24 - - - 1418 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392044.1 protein_coding 7/24 - - - 1435 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392045.1 protein_coding 7/25 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392046.1 protein_coding 7/24 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392047.1 protein_coding 7/24 - - - 1956 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392048.1 protein_coding 7/25 - - - 1956 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392049.1 protein_coding 7/24 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392050.1 protein_coding 7/24 - - - 1483 1230 410 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392051.1 protein_coding 7/24 - - - 1947 1227 409 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392052.1 protein_coding 7/24 - - - 1483 1230 410 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392053.1 protein_coding 6/24 - - - 1273 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392054.1 protein_coding 6/23 - - - 1273 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392055.1 protein_coding 6/23 - - - 1202 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392056.1 protein_coding 6/23 - - - 1740 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392057.1 protein_coding 6/23 - - - 1273 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392058.1 protein_coding 6/23 - - - 1264 1011 337 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392059.1 protein_coding 6/23 - - - 1267 1014 338 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392060.1 protein_coding 6/23 - - - 1734 1014 338 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392061.1 protein_coding 6/23 - - - 1217 987 329 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392062.1 protein_coding 6/24 - - - 1217 987 329 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392063.1 protein_coding 6/23 - - - 1273 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392064.1 protein_coding 6/23 - - - 1740 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392065.1 protein_coding 6/22 - - - 1267 1014 338 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392066.1 protein_coding 6/23 - - - 1273 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript NM_001392067.1 protein_coding 5/22 - - - 995 765 255 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_005252674.6 protein_coding 7/24 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_005252676.6 protein_coding 6/23 - - - 1267 1014 338 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_011539676.3 protein_coding 7/24 - - - 1418 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_011539682.4 protein_coding 6/23 - - - 1273 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_017016095.3 protein_coding 7/25 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_017016098.3 protein_coding 7/14 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_017016099.3 protein_coding 7/11 - - - 1489 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_047425106.1 protein_coding 7/24 - - - 1418 1236 412 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_047425107.1 protein_coding 6/23 - - - 1202 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_047425108.1 protein_coding 6/23 - - - 1273 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_047425109.1 protein_coding 6/23 - - - 1196 1014 338 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_047425110.1 protein_coding 6/22 - - - 1273 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132137138-132137138 C synonymous_variant LOW JAKMIP3 282973 Transcript XM_047425111.1 protein_coding 6/22 - - - 1273 1020 340 D gaT/gaC rs75996870,COSV53821367 - 1 - EntrezGene HGNC:23523 - - - - - RefSeq - T T - - - 0.0803 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T missense_variant MODERATE CFAP46 ENSG00000171811 Transcript ENST00000368586.10 protein_coding 50/58 - - - 7077 6991 2331 A/T Gca/Aca rs4880433,COSV54150359 - -1 - HGNC HGNC:25247 NM_001200049.3 - 5 A2 - Ensembl - C C - deleterious(0.04) benign(0.11) 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T missense_variant MODERATE CFAP46 ENSG00000171811 Transcript ENST00000448925.1 protein_coding 4/5 - - - 297 298 100 A/T Gca/Aca rs4880433,COSV54150359 - -1 cds_start_NF HGNC HGNC:25247 - - 3 - - Ensembl - C C - deleterious(0.05) benign(0.028) 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T downstream_gene_variant MODIFIER CFAP46 ENSG00000171811 Transcript ENST00000476633.1 retained_intron - - - - - - - - - rs4880433,COSV54150359 1198 -1 - HGNC HGNC:25247 - - 4 - - Ensembl - C C - - - 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T missense_variant MODERATE CFAP46 ENSG00000171811 Transcript ENST00000639072.2 protein_coding 50/59 - - - 7077 6991 2331 A/T Gca/Aca rs4880433,COSV54150359 - -1 - HGNC HGNC:25247 - - 5 P3 - Ensembl - C C - deleterious(0.05) benign(0.276) 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T missense_variant MODERATE CFAP46 54777 Transcript NM_001200049.3 protein_coding 50/58 - - - 7077 6991 2331 A/T Gca/Aca rs4880433,COSV54150359 - -1 - EntrezGene HGNC:25247 ENST00000368586.10 - - - - RefSeq - C C - deleterious(0.04) benign(0.11) 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T missense_variant MODERATE CFAP46 54777 Transcript XM_047425386.1 protein_coding 50/58 - - - 7080 6994 2332 A/T Gca/Aca rs4880433,COSV54150359 - -1 - EntrezGene HGNC:25247 - - - - - RefSeq - C C - - - 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T missense_variant MODERATE CFAP46 54777 Transcript XM_047425387.1 protein_coding 50/58 - - - 7077 6991 2331 A/T Gca/Aca rs4880433,COSV54150359 - -1 - EntrezGene HGNC:25247 - - - - - RefSeq - C C - - - 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T missense_variant MODERATE CFAP46 54777 Transcript XM_047425388.1 protein_coding 50/58 - - - 7080 6994 2332 A/T Gca/Aca rs4880433,COSV54150359 - -1 - EntrezGene HGNC:25247 - - - - - RefSeq - C C - - - 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T missense_variant MODERATE CFAP46 54777 Transcript XM_047425389.1 protein_coding 50/59 - - - 7080 6994 2332 A/T Gca/Aca rs4880433,COSV54150359 - -1 - EntrezGene HGNC:25247 - - - - - RefSeq - C C - - - 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T missense_variant MODERATE CFAP46 54777 Transcript XM_047425390.1 protein_coding 50/59 - - - 7080 6994 2332 A/T Gca/Aca rs4880433,COSV54150359 - -1 - EntrezGene HGNC:25247 - - - - - RefSeq - C C - - - 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T missense_variant MODERATE CFAP46 54777 Transcript XM_047425391.1 protein_coding 50/56 - - - 7080 6994 2332 A/T Gca/Aca rs4880433,COSV54150359 - -1 - EntrezGene HGNC:25247 - - - - - RefSeq - C C - - - 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T missense_variant MODERATE CFAP46 54777 Transcript XM_047425392.1 protein_coding 50/51 - - - 7080 6994 2332 A/T Gca/Aca rs4880433,COSV54150359 - -1 - EntrezGene HGNC:25247 - - - - - RefSeq - C C - - - 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T 3_prime_UTR_variant MODIFIER CFAP46 54777 Transcript XM_047425393.1 protein_coding 48/48 - - - 6827 - - - - rs4880433,COSV54150359 - -1 - EntrezGene HGNC:25247 - - - - - RefSeq - C C - - - 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T non_coding_transcript_exon_variant MODIFIER CFAP46 54777 Transcript XR_007061969.1 misc_RNA 50/57 - - - 7080 - - - - rs4880433,COSV54150359 - -1 - EntrezGene HGNC:25247 - - - - - RefSeq - C C - - - 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T non_coding_transcript_exon_variant MODIFIER CFAP46 54777 Transcript XR_007061970.1 misc_RNA 50/55 - - - 7080 - - - - rs4880433,COSV54150359 - -1 - EntrezGene HGNC:25247 - - - - - RefSeq - C C - - - 0.3199 - 0,1 0,1 - - - - - - . 10:132833484-132833484 T downstream_gene_variant MODIFIER CFAP46 54777 Transcript XR_007061971.1 misc_RNA - - - - - - - - - rs4880433,COSV54150359 557 -1 - EntrezGene HGNC:25247 - - - - - RefSeq - C C - - - 0.3199 - 0,1 0,1 - - - - - - . 10:133365954-133365954 C intron_variant MODIFIER ECHS1 ENSG00000127884 Transcript ENST00000368547.4 protein_coding - 6/7 - - - - - - - rs6537598 - -1 - HGNC HGNC:3151 NM_004092.4 - 1 P1 - Ensembl - G G - - - 0.9243 benign - 1 - - - - - - . 10:133365954-133365954 C intron_variant MODIFIER ECHS1 1892 Transcript NM_004092.4 protein_coding - 6/7 - - - - - - - rs6537598 - -1 - EntrezGene HGNC:3151 ENST00000368547.4 - - - - RefSeq - G G - - - 0.9243 benign - 1 - - - - - - . 10:133383915-133383915 A intron_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000278060.10 protein_coding - 3/6 - - - - - - - rs4240520 - 1 - HGNC HGNC:20837 NM_152911.4 - 1 P1 - Ensembl - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant,NMD_transcript_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000356306.9 nonsense_mediated_decay - 3/5 - - - - - - - rs4240520 - 1 - HGNC HGNC:20837 - - 1 - - Ensembl - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000357296.7 protein_coding - 3/5 - - - - - - - rs4240520 - 1 - HGNC HGNC:20837 - - 1 - - Ensembl - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant,non_coding_transcript_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000368535.2 protein_coding_CDS_not_defined - 3/6 - - - - - - - rs4240520 - 1 - HGNC HGNC:20837 - - 2 - - Ensembl - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant,NMD_transcript_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000476834.6 nonsense_mediated_decay - 3/6 - - - - - - - rs4240520 - 1 - HGNC HGNC:20837 - - 1 - - Ensembl - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000480071.2 protein_coding - 3/4 - - - - - - - rs4240520 - 1 - HGNC HGNC:20837 - - 1 - - Ensembl - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant,NMD_transcript_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000483211.6 nonsense_mediated_decay - 2/4 - - - - - - - rs4240520 - 1 - HGNC HGNC:20837 - - 1 - - Ensembl - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A downstream_gene_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000528127.1 protein_coding_CDS_not_defined - - - - - - - - - rs4240520 3542 1 - HGNC HGNC:20837 - - 2 - - Ensembl - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant,NMD_transcript_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000529585.5 nonsense_mediated_decay - 2/3 - - - - - - - rs4240520 - 1 - HGNC HGNC:20837 - - 1 - - Ensembl - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant MODIFIER PAOX 196743 Transcript NM_152911.4 protein_coding - 3/6 - - - - - - - rs4240520 - 1 - EntrezGene HGNC:20837 ENST00000278060.10 - - - - RefSeq - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant MODIFIER PAOX 196743 Transcript NM_207127.3 protein_coding - 3/4 - - - - - - - rs4240520 - 1 - EntrezGene HGNC:20837 - - - - - RefSeq - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant MODIFIER PAOX 196743 Transcript NM_207128.3 protein_coding - 3/5 - - - - - - - rs4240520 - 1 - EntrezGene HGNC:20837 - - - - - RefSeq - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant,non_coding_transcript_variant MODIFIER PAOX 196743 Transcript NR_109763.2 misc_RNA - 3/5 - - - - - - - rs4240520 - 1 - EntrezGene HGNC:20837 - - - - - RefSeq - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant,non_coding_transcript_variant MODIFIER PAOX 196743 Transcript NR_109764.2 misc_RNA - 3/6 - - - - - - - rs4240520 - 1 - EntrezGene HGNC:20837 - - - - - RefSeq - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant,non_coding_transcript_variant MODIFIER PAOX 196743 Transcript NR_109765.2 misc_RNA - 2/4 - - - - - - - rs4240520 - 1 - EntrezGene HGNC:20837 - - - - - RefSeq - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133383915-133383915 A intron_variant,non_coding_transcript_variant MODIFIER PAOX 196743 Transcript NR_109766.2 misc_RNA - 2/3 - - - - - - - rs4240520 - 1 - EntrezGene HGNC:20837 - - - - - RefSeq - G G - - - 0.8173 - - 1 31959995,33031748 - - - - - . 10:133389090-133389090 C intron_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000278060.10 protein_coding - 5/6 - - - - - - - rs10776679 - 1 - HGNC HGNC:20837 NM_152911.4 - 1 P1 - Ensembl - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant,NMD_transcript_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000356306.9 nonsense_mediated_decay - 4/5 - - - - - - - rs10776679 - 1 - HGNC HGNC:20837 - - 1 - - Ensembl - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000357296.7 protein_coding - 5/5 - - - - - - - rs10776679 - 1 - HGNC HGNC:20837 - - 1 - - Ensembl - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant,non_coding_transcript_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000368535.2 protein_coding_CDS_not_defined - 5/6 - - - - - - - rs10776679 - 1 - HGNC HGNC:20837 - - 2 - - Ensembl - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant,NMD_transcript_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000476834.6 nonsense_mediated_decay - 5/6 - - - - - - - rs10776679 - 1 - HGNC HGNC:20837 - - 1 - - Ensembl - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000480071.2 protein_coding - 4/4 - - - - - - - rs10776679 - 1 - HGNC HGNC:20837 - - 1 - - Ensembl - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant,NMD_transcript_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000483211.6 nonsense_mediated_decay - 3/4 - - - - - - - rs10776679 - 1 - HGNC HGNC:20837 - - 1 - - Ensembl - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant,NMD_transcript_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000529585.5 nonsense_mediated_decay - 3/3 - - - - - - - rs10776679 - 1 - HGNC HGNC:20837 - - 1 - - Ensembl - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C upstream_gene_variant MODIFIER PAOX ENSG00000148832 Transcript ENST00000530555.1 protein_coding_CDS_not_defined - - - - - - - - - rs10776679 1968 1 - HGNC HGNC:20837 - - 3 - - Ensembl - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant MODIFIER PAOX 196743 Transcript NM_152911.4 protein_coding - 5/6 - - - - - - - rs10776679 - 1 - EntrezGene HGNC:20837 ENST00000278060.10 - - - - RefSeq - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant MODIFIER PAOX 196743 Transcript NM_207127.3 protein_coding - 4/4 - - - - - - - rs10776679 - 1 - EntrezGene HGNC:20837 - - - - - RefSeq - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant MODIFIER PAOX 196743 Transcript NM_207128.3 protein_coding - 5/5 - - - - - - - rs10776679 - 1 - EntrezGene HGNC:20837 - - - - - RefSeq - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant,non_coding_transcript_variant MODIFIER PAOX 196743 Transcript NR_109763.2 misc_RNA - 4/5 - - - - - - - rs10776679 - 1 - EntrezGene HGNC:20837 - - - - - RefSeq - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant,non_coding_transcript_variant MODIFIER PAOX 196743 Transcript NR_109764.2 misc_RNA - 5/6 - - - - - - - rs10776679 - 1 - EntrezGene HGNC:20837 - - - - - RefSeq - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant,non_coding_transcript_variant MODIFIER PAOX 196743 Transcript NR_109765.2 misc_RNA - 3/4 - - - - - - - rs10776679 - 1 - EntrezGene HGNC:20837 - - - - - RefSeq - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C intron_variant,non_coding_transcript_variant MODIFIER PAOX 196743 Transcript NR_109766.2 misc_RNA - 3/3 - - - - - - - rs10776679 - 1 - EntrezGene HGNC:20837 - - - - - RefSeq - T T - - - 0.8718 - - - 35624665 - - - - - . 10:133389090-133389090 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000420821 promoter - - - - - - - - - rs10776679 - - - - - - - - - - - - - - - - - 0.8718 - - - 35624665 - - - - - . 10:133556966-133556966 C intron_variant MODIFIER SYCE1 ENSG00000171772 Transcript ENST00000303903.10 protein_coding - 7/12 - - - - - - - rs8181425,COSV58216328 - -1 - HGNC HGNC:28852 - - 1 P2 - Ensembl - T T - - - 0.1971 - 0,1 0,1 21818250 - - - - - . 10:133556966-133556966 C intron_variant MODIFIER SYCE1 ENSG00000171772 Transcript ENST00000343131.7 protein_coding - 7/12 - - - - - - - rs8181425,COSV58216328 - -1 - HGNC HGNC:28852 NM_001143764.3 - 1 A2 - Ensembl - T T - - - 0.1971 - 0,1 0,1 21818250 - - - - - . 10:133556966-133556966 C intron_variant MODIFIER SYCE1 ENSG00000171772 Transcript ENST00000368517.7 protein_coding - 7/12 - - - - - - - rs8181425,COSV58216328 - -1 - HGNC HGNC:28852 - - 5 A2 - Ensembl - T T - - - 0.1971 - 0,1 0,1 21818250 - - - - - . 10:133556966-133556966 C non_coding_transcript_exon_variant MODIFIER CYP2E1 ENSG00000130649 Transcript ENST00000368520.1 retained_intron 6/6 - - - 3664 - - - - rs8181425,COSV58216328 - 1 - HGNC HGNC:2631 - - 1 - - Ensembl - T T - - - 0.1971 - 0,1 0,1 21818250 - - - - - . 10:133556966-133556966 C intron_variant,non_coding_transcript_variant MODIFIER SYCE1 ENSG00000171772 Transcript ENST00000479535.2 retained_intron - 5/10 - - - - - - - rs8181425,COSV58216328 - -1 - HGNC HGNC:28852 - - 5 - - Ensembl - T T - - - 0.1971 - 0,1 0,1 21818250 - - - - - . 10:133556966-133556966 C intron_variant MODIFIER SYCE1 93426 Transcript NM_001143763.2 protein_coding - 7/12 - - - - - - - rs8181425,COSV58216328 - -1 - EntrezGene HGNC:28852 - - - - - RefSeq - T T - - - 0.1971 - 0,1 0,1 21818250 - - - - - . 10:133556966-133556966 C intron_variant MODIFIER SYCE1 93426 Transcript NM_001143764.3 protein_coding - 7/12 - - - - - - - rs8181425,COSV58216328 - -1 - EntrezGene HGNC:28852 ENST00000343131.7 - - - - RefSeq - T T - - - 0.1971 - 0,1 0,1 21818250 - - - - - . 10:133556966-133556966 C intron_variant MODIFIER SYCE1 93426 Transcript NM_130784.4 protein_coding - 7/12 - - - - - - - rs8181425,COSV58216328 - -1 - EntrezGene HGNC:28852 - - - - - RefSeq - T T - - - 0.1971 - 0,1 0,1 21818250 - - - - - . 10:133557129-133557129 T synonymous_variant LOW SYCE1 ENSG00000171772 Transcript ENST00000303903.10 protein_coding 7/13 - - - 456 402 134 K aaG/aaA rs8181356,COSV58216337 - -1 - HGNC HGNC:28852 - - 1 P2 - Ensembl - C C - - - 0.1548 - 0,1 0,1 - - - - - - . 10:133557129-133557129 T synonymous_variant LOW SYCE1 ENSG00000171772 Transcript ENST00000343131.7 protein_coding 7/13 - - - 456 402 134 K aaG/aaA rs8181356,COSV58216337 - -1 - HGNC HGNC:28852 NM_001143764.3 - 1 A2 - Ensembl - C C - - - 0.1548 - 0,1 0,1 - - - - - - . 10:133557129-133557129 T synonymous_variant LOW SYCE1 ENSG00000171772 Transcript ENST00000368517.7 protein_coding 7/13 - - - 433 294 98 K aaG/aaA rs8181356,COSV58216337 - -1 - HGNC HGNC:28852 - - 5 A2 - Ensembl - C C - - - 0.1548 - 0,1 0,1 - - - - - - . 10:133557129-133557129 T non_coding_transcript_exon_variant MODIFIER CYP2E1 ENSG00000130649 Transcript ENST00000368520.1 retained_intron 6/6 - - - 3827 - - - - rs8181356,COSV58216337 - 1 - HGNC HGNC:2631 - - 1 - - Ensembl - C C - - - 0.1548 - 0,1 0,1 - - - - - - . 10:133557129-133557129 T non_coding_transcript_exon_variant MODIFIER SYCE1 ENSG00000171772 Transcript ENST00000479535.2 retained_intron 5/11 - - - 1535 - - - - rs8181356,COSV58216337 - -1 - HGNC HGNC:28852 - - 5 - - Ensembl - C C - - - 0.1548 - 0,1 0,1 - - - - - - . 10:133557129-133557129 T synonymous_variant LOW SYCE1 93426 Transcript NM_001143763.2 protein_coding 7/13 - - - 456 402 134 K aaG/aaA rs8181356,COSV58216337 - -1 - EntrezGene HGNC:28852 - - - - - RefSeq - C C - - - 0.1548 - 0,1 0,1 - - - - - - . 10:133557129-133557129 T synonymous_variant LOW SYCE1 93426 Transcript NM_001143764.3 protein_coding 7/13 - - - 456 402 134 K aaG/aaA rs8181356,COSV58216337 - -1 - EntrezGene HGNC:28852 ENST00000343131.7 - - - - RefSeq - C C - - - 0.1548 - 0,1 0,1 - - - - - - . 10:133557129-133557129 T synonymous_variant LOW SYCE1 93426 Transcript NM_130784.4 protein_coding 7/13 - - - 433 294 98 K aaG/aaA rs8181356,COSV58216337 - -1 - EntrezGene HGNC:28852 - - - - - RefSeq - C C - - - 0.1548 - 0,1 0,1 - - - - - - . 10:133557135-133557135 A missense_variant MODERATE SYCE1 ENSG00000171772 Transcript ENST00000303903.10 protein_coding 7/13 - - - 450 396 132 E/D gaG/gaT rs8181357,COSV58216350 - -1 - HGNC HGNC:28852 - - 1 P2 - Ensembl - C C - tolerated(0.22) benign(0.015) 0.1548 - 0,1 0,1 16385451 - - - - - . 10:133557135-133557135 A missense_variant MODERATE SYCE1 ENSG00000171772 Transcript ENST00000343131.7 protein_coding 7/13 - - - 450 396 132 E/D gaG/gaT rs8181357,COSV58216350 - -1 - HGNC HGNC:28852 NM_001143764.3 - 1 A2 - Ensembl - C C - tolerated(0.17) benign(0.047) 0.1548 - 0,1 0,1 16385451 - - - - - . 10:133557135-133557135 A missense_variant MODERATE SYCE1 ENSG00000171772 Transcript ENST00000368517.7 protein_coding 7/13 - - - 427 288 96 E/D gaG/gaT rs8181357,COSV58216350 - -1 - HGNC HGNC:28852 - - 5 A2 - Ensembl - C C - tolerated(0.22) benign(0.017) 0.1548 - 0,1 0,1 16385451 - - - - - . 10:133557135-133557135 A non_coding_transcript_exon_variant MODIFIER CYP2E1 ENSG00000130649 Transcript ENST00000368520.1 retained_intron 6/6 - - - 3833 - - - - rs8181357,COSV58216350 - 1 - HGNC HGNC:2631 - - 1 - - Ensembl - C C - - - 0.1548 - 0,1 0,1 16385451 - - - - - . 10:133557135-133557135 A non_coding_transcript_exon_variant MODIFIER SYCE1 ENSG00000171772 Transcript ENST00000479535.2 retained_intron 5/11 - - - 1529 - - - - rs8181357,COSV58216350 - -1 - HGNC HGNC:28852 - - 5 - - Ensembl - C C - - - 0.1548 - 0,1 0,1 16385451 - - - - - . 10:133557135-133557135 A missense_variant MODERATE SYCE1 93426 Transcript NM_001143763.2 protein_coding 7/13 - - - 450 396 132 E/D gaG/gaT rs8181357,COSV58216350 - -1 - EntrezGene HGNC:28852 - - - - - RefSeq - C C - tolerated(0.22) benign(0.015) 0.1548 - 0,1 0,1 16385451 - - - - - . 10:133557135-133557135 A missense_variant MODERATE SYCE1 93426 Transcript NM_001143764.3 protein_coding 7/13 - - - 450 396 132 E/D gaG/gaT rs8181357,COSV58216350 - -1 - EntrezGene HGNC:28852 ENST00000343131.7 - - - - RefSeq - C C - tolerated(0.17) benign(0.047) 0.1548 - 0,1 0,1 16385451 - - - - - . 10:133557135-133557135 A missense_variant MODERATE SYCE1 93426 Transcript NM_130784.4 protein_coding 7/13 - - - 427 288 96 E/D gaG/gaT rs8181357,COSV58216350 - -1 - EntrezGene HGNC:28852 - - - - - RefSeq - C C - tolerated(0.22) benign(0.017) 0.1548 - 0,1 0,1 16385451 - - - - - . 10:133625021-133625021 G 3_prime_UTR_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 968 - - - - - - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:133625021-133625021 G 3_prime_UTR_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 968 - - - - - - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - A A - - - - - - - - - - - - - . 10:133625021-133625021 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133625021-133625021 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - - - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133625021-133625021 G 3_prime_UTR_variant MODIFIER FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 968 - - - - - - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:133625047-133625047 G 3_prime_UTR_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 942 - - - - rs112716999 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:133625047-133625047 G 3_prime_UTR_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 942 - - - - rs112716999 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - A A - - - - - - - - - - - - - . 10:133625047-133625047 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs112716999 - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133625047-133625047 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs112716999 - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133625047-133625047 G 3_prime_UTR_variant MODIFIER FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 942 - - - - rs112716999 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:133625101-133625101 C stop_lost HIGH FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 888 835 279 */G Tga/Gga rs370574049,COSV71042519 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:133625101-133625101 C stop_lost HIGH FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 888 838 280 */G Tga/Gga rs370574049,COSV71042519 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:133625101-133625101 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs370574049,COSV71042519 - 1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:133625101-133625101 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs370574049,COSV71042519 - 1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:133625101-133625101 C stop_lost HIGH FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 888 835 279 */G Tga/Gga rs370574049,COSV71042519 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:133625131-133625131 G missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 858 805 269 T/P Act/Cct rs199913567,COSV71042450 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - T T - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:133625131-133625131 G missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 858 808 270 T/P Act/Cct rs199913567,COSV71042450 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - T T - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:133625131-133625131 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs199913567,COSV71042450 - 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133625131-133625131 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs199913567,COSV71042450 - 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133625131-133625131 G missense_variant MODERATE FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 858 805 269 T/P Act/Cct rs199913567,COSV71042450 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - T T - tolerated_low_confidence(1) benign(0) - - 0,1 0,1 - - - - - - . 10:133625195-133625195 A synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 794 741 247 P ccA/ccT rs375116888 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:133625195-133625195 A synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 794 744 248 P ccA/ccT rs375116888 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - T T - - - - - - - - - - - - - . 10:133625195-133625195 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs375116888 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133625195-133625195 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs375116888 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133625195-133625195 A synonymous_variant LOW FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 794 741 247 P ccA/ccT rs375116888 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:133625249-133625249 A synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 740 687 229 T acC/acT rs375000694,COSV71042746 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:133625249-133625249 A synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 740 690 230 T acC/acT rs375000694,COSV71042746 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:133625249-133625249 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs375000694,COSV71042746 - 1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:133625249-133625249 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs375000694,COSV71042746 - 1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:133625249-133625249 A synonymous_variant LOW FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 740 687 229 T acC/acT rs375000694,COSV71042746 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:133625306-133625306 A synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 683 630 210 L ctC/ctT rs774273831,COSV71042712 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:133625306-133625306 A synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 683 633 211 L ctC/ctT rs774273831,COSV71042712 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:133625306-133625306 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs774273831,COSV71042712 - 1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:133625306-133625306 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs774273831,COSV71042712 - 1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:133625306-133625306 A synonymous_variant LOW FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 683 630 210 L ctC/ctT rs774273831,COSV71042712 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:133625330-133625330 C synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 659 606 202 L ctT/ctG rs374581917,COSV71042432 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:133625330-133625330 C synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 659 609 203 L ctT/ctG rs374581917,COSV71042432 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:133625330-133625330 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs374581917,COSV71042432 - 1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:133625330-133625330 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs374581917,COSV71042432 - 1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:133625330-133625330 C synonymous_variant LOW FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 659 606 202 L ctT/ctG rs374581917,COSV71042432 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - A A - - - - - 0,1 0,1 - - - - - - . 10:133625387-133625387 C synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 602 549 183 S tcA/tcG rs370488310,COSV71044211 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133625387-133625387 C synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 602 552 184 S tcA/tcG rs370488310,COSV71044211 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133625387-133625387 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs370488310,COSV71044211 - 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133625387-133625387 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs370488310,COSV71044211 - 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133625387-133625387 C synonymous_variant LOW FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 602 549 183 S tcA/tcG rs370488310,COSV71044211 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:133625405-133625405 A synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 584 531 177 T acC/acT rs779621411 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:133625405-133625405 A synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 584 534 178 T acC/acT rs779621411 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - G G - - - - - - - - - - - - - . 10:133625405-133625405 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs779621411 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133625405-133625405 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs779621411 - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133625405-133625405 A synonymous_variant LOW FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 584 531 177 T acC/acT rs779621411 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:133625425-133625425 G missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 564 511 171 I/L Att/Ctt rs201901202,COSV71042444 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - T T - tolerated(1) benign(0) - - 0,1 0,1 - - - - - - . 10:133625425-133625425 G missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 564 514 172 I/L Att/Ctt rs201901202,COSV71042444 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - T T - tolerated(1) benign(0) - - 0,1 0,1 - - - - - - . 10:133625425-133625425 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs201901202,COSV71042444 - 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133625425-133625425 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs201901202,COSV71042444 - 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133625425-133625425 G missense_variant MODERATE FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 564 511 171 I/L Att/Ctt rs201901202,COSV71042444 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - T T - tolerated(1) benign(0) - - 0,1 0,1 - - - - - - . 10:133625472-133625472 T missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 517 464 155 R/H cGc/cAc rs746942614 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - C C - tolerated(0.38) benign(0) - - - - - - - - - - . 10:133625472-133625472 T missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 517 467 156 R/H cGc/cAc rs746942614 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - C C - tolerated(0.38) benign(0) - - - - - - - - - - . 10:133625472-133625472 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs746942614 - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133625472-133625472 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs746942614 - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133625472-133625472 T missense_variant MODERATE FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 517 464 155 R/H cGc/cAc rs746942614 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - C C - tolerated(0.38) benign(0) - - - - - - - - - - . 10:133625493-133625493 T missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 496 443 148 R/H cGt/cAt rs1296108284,COSV101423533 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - C C - tolerated(0.65) benign(0) - - 0,1 0,1 - - - - - - . 10:133625493-133625493 T missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 496 446 149 R/H cGt/cAt rs1296108284,COSV101423533 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - C C - tolerated(0.65) benign(0) - - 0,1 0,1 - - - - - - . 10:133625493-133625493 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs1296108284,COSV101423533 - 1 - - - - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:133625493-133625493 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs1296108284,COSV101423533 - 1 - - - - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:133625493-133625493 T missense_variant MODERATE FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 496 443 148 R/H cGt/cAt rs1296108284,COSV101423533 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - C C - tolerated(0.65) benign(0) - - 0,1 0,1 - - - - - - . 10:133625494-133625494 T missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 495 442 148 R/S Cgt/Agt rs200937977,COSV101423553,COSV106115329 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - G G - tolerated(0.5) benign(0) - - 0,1,1 0,1,1 - - - - - - . 10:133625494-133625494 T missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 495 445 149 R/S Cgt/Agt rs200937977,COSV101423553,COSV106115329 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - G G - tolerated(0.5) benign(0) - - 0,1,1 0,1,1 - - - - - - . 10:133625494-133625494 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs200937977,COSV101423553,COSV106115329 - 1 - - - - - - - - Ensembl - G G - - - - - 0,1,1 0,1,1 - - - - - - . 10:133625494-133625494 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs200937977,COSV101423553,COSV106115329 - 1 - - - - - - - - Ensembl - G G - - - - - 0,1,1 0,1,1 - - - - - - . 10:133625494-133625494 T missense_variant MODERATE FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 495 442 148 R/S Cgt/Agt rs200937977,COSV101423553,COSV106115329 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - G G - tolerated(0.5) benign(0) - - 0,1,1 0,1,1 - - - - - - . 10:133625545-133625545 C missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 4/4 - - - 444 391 131 P/A Cct/Gct rs200347477,COSV71042440 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - G G - tolerated(1) benign(0) 0.0002 - 0,1 0,1 - - - - - - . 10:133625545-133625545 C missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 4/4 - - - 444 394 132 P/A Cct/Gct rs200347477,COSV71042440 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - G G - tolerated(1) benign(0) 0.0002 - 0,1 0,1 - - - - - - . 10:133625545-133625545 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs200347477,COSV71042440 - 1 - - - - - - - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:133625545-133625545 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs200347477,COSV71042440 - 1 - - - - - - - - Ensembl - G G - - - 0.0002 - 0,1 0,1 - - - - - - . 10:133625545-133625545 C missense_variant MODERATE FRG2B 441581 Transcript NM_001080998.2 protein_coding 4/4 - - - 444 391 131 P/A Cct/Gct rs200347477,COSV71042440 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - G G - tolerated(1) benign(0) 0.0002 - 0,1 0,1 - - - - - - . 10:133625655-133625655 C intron_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding - 3/3 - - - - - - - rs200617135,COSV71043257 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:133625655-133625655 C intron_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding - 3/3 - - - - - - - rs200617135,COSV71043257 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:133625655-133625655 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs200617135,COSV71043257 - 1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:133625655-133625655 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs200617135,COSV71043257 - 1 - - - - - - - - Ensembl - G G - - - - - 0,1 0,1 - - - - - - . 10:133625655-133625655 C intron_variant MODIFIER FRG2B 441581 Transcript NM_001080998.2 protein_coding - 3/3 - - - - - - - rs200617135,COSV71043257 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - G G - - - - - 0,1 0,1 - - - - - - . 10:133625834-133625834 T intron_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding - 3/3 - - - - - - - rs200878503,COSV71042719 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:133625834-133625834 T intron_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding - 3/3 - - - - - - - rs200878503,COSV71042719 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:133625834-133625834 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs200878503,COSV71042719 - 1 - - - - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:133625834-133625834 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs200878503,COSV71042719 - 1 - - - - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:133625834-133625834 T intron_variant MODIFIER FRG2B 441581 Transcript NM_001080998.2 protein_coding - 3/3 - - - - - - - rs200878503,COSV71042719 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:133625897-133625897 C intron_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding - 3/3 - - - - - - - rs546318039 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - A A - - - 0.1274 - - - - - - - - - . 10:133625897-133625897 C intron_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding - 3/3 - - - - - - - rs546318039 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - A A - - - 0.1274 - - - - - - - - - . 10:133625897-133625897 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs546318039 - 1 - - - - - - - - Ensembl - A A - - - 0.1274 - - - - - - - - - . 10:133625897-133625897 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs546318039 - 1 - - - - - - - - Ensembl - A A - - - 0.1274 - - - - - - - - - . 10:133625897-133625897 C intron_variant MODIFIER FRG2B 441581 Transcript NM_001080998.2 protein_coding - 3/3 - - - - - - - rs546318039 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - A A - - - 0.1274 - - - - - - - - - . 10:133626191-133626191 G intron_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding - 2/3 - - - - - - - rs61868732,COSV71042913 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133626191-133626191 G intron_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding - 2/3 - - - - - - - rs61868732,COSV71042913 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133626191-133626191 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs61868732,COSV71042913 - 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133626191-133626191 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs61868732,COSV71042913 - 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133626191-133626191 G intron_variant MODIFIER FRG2B 441581 Transcript NM_001080998.2 protein_coding - 2/3 - - - - - - - rs61868732,COSV71042913 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - T T - - - - - 0,1 0,1 - - - - - - . 10:133626299-133626299 T synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 2/4 - - - 236 183 61 S tcG/tcA rs202189720,COSV71043082 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:133626299-133626299 T synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 2/4 - - - 236 186 62 S tcG/tcA rs202189720,COSV71043082 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:133626299-133626299 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs202189720,COSV71043082 - 1 - - - - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:133626299-133626299 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs202189720,COSV71043082 - 1 - - - - - - - - Ensembl - C C - - - - - 0,1 0,1 - - - - - - . 10:133626299-133626299 T synonymous_variant LOW FRG2B 441581 Transcript NM_001080998.2 protein_coding 2/4 - - - 236 183 61 S tcG/tcA rs202189720,COSV71043082 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - C C - - - - - 0,1 0,1 - - - - - - . 10:133626435-133626437 A intron_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding - 1/3 - - - - - - - COSV71042601 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - - - - - - - - 1 1 - - - - - - . 10:133626435-133626437 A intron_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding - 1/3 - - - - - - - COSV71042601 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - - - - - - - - 1 1 - - - - - - . 10:133626435-133626437 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - COSV71042601 - 1 - - - - - - - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:133626435-133626437 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - COSV71042601 - 1 - - - - - - - - Ensembl - - - - - - - - 1 1 - - - - - - . 10:133626435-133626437 A intron_variant MODIFIER FRG2B 441581 Transcript NM_001080998.2 protein_coding - 1/3 - - - - - - - COSV71042601 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - - - - - - - - 1 1 - - - - - - . 10:133626537-133626537 C intron_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding - 1/3 - - - - - - - rs369224111 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - A A - - - - - - - - - - - - - . 10:133626537-133626537 C intron_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding - 1/3 - - - - - - - rs369224111 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - A A - - - - - - - - - - - - - . 10:133626537-133626537 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs369224111 - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133626537-133626537 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs369224111 - 1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133626537-133626537 C intron_variant MODIFIER FRG2B 441581 Transcript NM_001080998.2 protein_coding - 1/3 - - - - - - - rs369224111 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - A A - - - - - - - - - - - - - . 10:133626576-133626576 G missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 1/4 - - - 220 167 56 I/T aTa/aCa rs199558715,COSV71043127 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - A A - tolerated(1) benign(0) - - 0,1 0,1 - - - - - - . 10:133626576-133626576 G missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 1/4 - - - 217 167 56 I/T aTa/aCa rs199558715,COSV71043127 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - A A - tolerated(1) benign(0) - - 0,1 0,1 - - - - - - . 10:133626576-133626576 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs199558715,COSV71043127 - 1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:133626576-133626576 G intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs199558715,COSV71043127 - 1 - - - - - - - - Ensembl - A A - - - - - 0,1 0,1 - - - - - - . 10:133626576-133626576 G missense_variant MODERATE FRG2B 441581 Transcript NM_001080998.2 protein_coding 1/4 - - - 220 167 56 I/T aTa/aCa rs199558715,COSV71043127 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - A A - tolerated(1) benign(0) - - 0,1 0,1 - - - - - - . 10:133626618-133626618 C missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 1/4 - - - 178 125 42 E/G gAa/gGa rs200811760,COSV71042599 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - T T - tolerated(0.21) benign(0) - - 0,1 0,1 - - - - - - . 10:133626618-133626618 C missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 1/4 - - - 175 125 42 E/G gAa/gGa rs200811760,COSV71042599 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - T T - tolerated(0.22) benign(0) - - 0,1 0,1 - - - - - - . 10:133626618-133626618 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs200811760,COSV71042599 - 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133626618-133626618 C intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs200811760,COSV71042599 - 1 - - - - - - - - Ensembl - T T - - - - - 0,1 0,1 - - - - - - . 10:133626618-133626618 C missense_variant MODERATE FRG2B 441581 Transcript NM_001080998.2 protein_coding 1/4 - - - 178 125 42 E/G gAa/gGa rs200811760,COSV71042599 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - T T - tolerated(0.21) benign(0) - - 0,1 0,1 - - - - - - . 10:133626699-133626699 T missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 1/4 - - - 97 44 15 I/N aTc/aAc rs200661929,COSV71042688,COSV71043092 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - A A - tolerated(0.28) benign(0.053) 0.1731 - 0,1,1 0,1,1 - - - - - - . 10:133626699-133626699 T missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 1/4 - - - 94 44 15 I/N aTc/aAc rs200661929,COSV71042688,COSV71043092 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - A A - tolerated(0.28) benign(0.056) 0.1731 - 0,1,1 0,1,1 - - - - - - . 10:133626699-133626699 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs200661929,COSV71042688,COSV71043092 - 1 - - - - - - - - Ensembl - A A - - - 0.1731 - 0,1,1 0,1,1 - - - - - - . 10:133626699-133626699 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs200661929,COSV71042688,COSV71043092 - 1 - - - - - - - - Ensembl - A A - - - 0.1731 - 0,1,1 0,1,1 - - - - - - . 10:133626699-133626699 T missense_variant MODERATE FRG2B 441581 Transcript NM_001080998.2 protein_coding 1/4 - - - 97 44 15 I/N aTc/aAc rs200661929,COSV71042688,COSV71043092 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - A A - tolerated(0.28) benign(0.053) 0.1731 - 0,1,1 0,1,1 - - - - - - . 10:133626707-133626707 A synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 1/4 - - - 89 36 12 C tgC/tgT - - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - G G - - - - - - - - - - - - - . 10:133626707-133626707 A synonymous_variant LOW FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 1/4 - - - 86 36 12 C tgC/tgT - - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - G G - - - - - - - - - - - - - . 10:133626707-133626707 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - - - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133626707-133626707 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - - - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133626707-133626707 A synonymous_variant LOW FRG2B 441581 Transcript NM_001080998.2 protein_coding 1/4 - - - 89 36 12 C tgC/tgT - - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - G G - - - - - - - - - - - - - . 10:133626721-133626721 A missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 1/4 - - - 75 22 8 P/S Ccc/Tcc - - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - G G - tolerated(0.93) benign(0) - - - - - - - - - - . 10:133626721-133626721 A missense_variant MODERATE FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 1/4 - - - 72 22 8 P/S Ccc/Tcc - - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - G G - tolerated(0.92) benign(0) - - - - - - - - - - . 10:133626721-133626721 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - - - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133626721-133626721 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - - - 1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133626721-133626721 A missense_variant MODERATE FRG2B 441581 Transcript NM_001080998.2 protein_coding 1/4 - - - 75 22 8 P/S Ccc/Tcc - - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - G G - tolerated(0.93) benign(0) - - - - - - - - - - . 10:133626774-133626774 A 5_prime_UTR_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 1/4 - - - 22 - - - - rs77487648 - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - T T - - - - - - - - - - - - - . 10:133626774-133626774 A 5_prime_UTR_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 1/4 - - - 19 - - - - rs77487648 - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - T T - - - - - - - - - - - - - . 10:133626774-133626774 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - rs77487648 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133626774-133626774 A intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - rs77487648 - 1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133626774-133626774 A 5_prime_UTR_variant MODIFIER FRG2B 441581 Transcript NM_001080998.2 protein_coding 1/4 - - - 22 - - - - rs77487648 - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - T T - - - - - - - - - - - - - . 10:133626777-133626777 T 5_prime_UTR_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000425520.2 protein_coding 1/4 - - - 19 - - - - - - -1 - HGNC HGNC:33518 NM_001080998.2 - 1 A2 - Ensembl - C C - - - - - - - - - - - - - . 10:133626777-133626777 T 5_prime_UTR_variant MODIFIER FRG2B ENSG00000225899 Transcript ENST00000443774.5 protein_coding 1/4 - - - 16 - - - - - - -1 - HGNC HGNC:33518 - - 1 P4 - Ensembl - C C - - - - - - - - - - - - - . 10:133626777-133626777 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000655152.1 lncRNA - 1/1 - - - - - - - - - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133626777-133626777 T intron_variant,non_coding_transcript_variant MODIFIER - ENSG00000288107 Transcript ENST00000669404.1 lncRNA - 2/2 - - - - - - - - - 1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133626777-133626777 T 5_prime_UTR_variant MODIFIER FRG2B 441581 Transcript NM_001080998.2 protein_coding 1/4 - - - 19 - - - - - - -1 - EntrezGene HGNC:33518 ENST00000425520.2 - - - - RefSeq - C C - - - - - - - - - - - - - . 10:133641414-133641414 T upstream_gene_variant MODIFIER RARRES2P2 ENSG00000213543 Transcript ENST00000394842.2 processed_pseudogene - - - - - - - - - rs77320087 3522 -1 - HGNC HGNC:48701 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133641414-133641414 T non_coding_transcript_exon_variant MODIFIER AGGF1P2 ENSG00000233435 Transcript ENST00000426656.2 processed_pseudogene 1/1 - - - 626 - - - - rs77320087 - 1 - HGNC HGNC:38052 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133641859-133641859 A upstream_gene_variant MODIFIER RARRES2P2 ENSG00000213543 Transcript ENST00000394842.2 processed_pseudogene - - - - - - - - - rs61869991 3967 -1 - HGNC HGNC:48701 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133641859-133641859 A non_coding_transcript_exon_variant MODIFIER AGGF1P2 ENSG00000233435 Transcript ENST00000426656.2 processed_pseudogene 1/1 - - - 1071 - - - - rs61869991 - 1 - HGNC HGNC:38052 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133641894-133641894 G upstream_gene_variant MODIFIER RARRES2P2 ENSG00000213543 Transcript ENST00000394842.2 processed_pseudogene - - - - - - - - - rs3020526 4002 -1 - HGNC HGNC:48701 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133641894-133641894 G non_coding_transcript_exon_variant MODIFIER AGGF1P2 ENSG00000233435 Transcript ENST00000426656.2 processed_pseudogene 1/1 - - - 1106 - - - - rs3020526 - 1 - HGNC HGNC:38052 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133641909-133641909 T upstream_gene_variant MODIFIER RARRES2P2 ENSG00000213543 Transcript ENST00000394842.2 processed_pseudogene - - - - - - - - - rs2077436 4017 -1 - HGNC HGNC:48701 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133641909-133641909 T non_coding_transcript_exon_variant MODIFIER AGGF1P2 ENSG00000233435 Transcript ENST00000426656.2 processed_pseudogene 1/1 - - - 1121 - - - - rs2077436 - 1 - HGNC HGNC:38052 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133642453-133642453 T upstream_gene_variant MODIFIER RARRES2P2 ENSG00000213543 Transcript ENST00000394842.2 processed_pseudogene - - - - - - - - - rs373432601 4561 -1 - HGNC HGNC:48701 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133642453-133642453 T non_coding_transcript_exon_variant MODIFIER AGGF1P2 ENSG00000233435 Transcript ENST00000426656.2 processed_pseudogene 1/1 - - - 1665 - - - - rs373432601 - 1 - HGNC HGNC:38052 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133642517-133642517 G upstream_gene_variant MODIFIER RARRES2P2 ENSG00000213543 Transcript ENST00000394842.2 processed_pseudogene - - - - - - - - - rs1185160397 4625 -1 - HGNC HGNC:48701 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133642517-133642517 G non_coding_transcript_exon_variant MODIFIER AGGF1P2 ENSG00000233435 Transcript ENST00000426656.2 processed_pseudogene 1/1 - - - 1729 - - - - rs1185160397 - 1 - HGNC HGNC:38052 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133642589-133642589 A upstream_gene_variant MODIFIER RARRES2P2 ENSG00000213543 Transcript ENST00000394842.2 processed_pseudogene - - - - - - - - - rs4408263 4697 -1 - HGNC HGNC:48701 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133642589-133642589 A non_coding_transcript_exon_variant MODIFIER AGGF1P2 ENSG00000233435 Transcript ENST00000426656.2 processed_pseudogene 1/1 - - - 1801 - - - - rs4408263 - 1 - HGNC HGNC:38052 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133642648-133642648 A upstream_gene_variant MODIFIER RARRES2P2 ENSG00000213543 Transcript ENST00000394842.2 processed_pseudogene - - - - - - - - - rs200607245 4756 -1 - HGNC HGNC:48701 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133642648-133642648 A non_coding_transcript_exon_variant MODIFIER AGGF1P2 ENSG00000233435 Transcript ENST00000426656.2 processed_pseudogene 1/1 - - - 1860 - - - - rs200607245 - 1 - HGNC HGNC:38052 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133642675-133642675 G upstream_gene_variant MODIFIER RARRES2P2 ENSG00000213543 Transcript ENST00000394842.2 processed_pseudogene - - - - - - - - - rs4451678 4783 -1 - HGNC HGNC:48701 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133642675-133642675 G non_coding_transcript_exon_variant MODIFIER AGGF1P2 ENSG00000233435 Transcript ENST00000426656.2 processed_pseudogene 1/1 - - - 1887 - - - - rs4451678 - 1 - HGNC HGNC:38052 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133642797-133642797 G upstream_gene_variant MODIFIER RARRES2P2 ENSG00000213543 Transcript ENST00000394842.2 processed_pseudogene - - - - - - - - - rs879053383 4905 -1 - HGNC HGNC:48701 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133642797-133642797 G non_coding_transcript_exon_variant MODIFIER AGGF1P2 ENSG00000233435 Transcript ENST00000426656.2 processed_pseudogene 1/1 - - - 2009 - - - - rs879053383 - 1 - HGNC HGNC:38052 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133642826-133642826 T upstream_gene_variant MODIFIER RARRES2P2 ENSG00000213543 Transcript ENST00000394842.2 processed_pseudogene - - - - - - - - - rs61869998 4934 -1 - HGNC HGNC:48701 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133642826-133642826 T non_coding_transcript_exon_variant MODIFIER AGGF1P2 ENSG00000233435 Transcript ENST00000426656.2 processed_pseudogene 1/1 - - - 2038 - - - - rs61869998 - 1 - HGNC HGNC:38052 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133659504-133659504 T intron_variant,non_coding_transcript_variant MODIFIER CLUHP5 ENSG00000230468 Transcript ENST00000438421.1 unprocessed_pseudogene - 3/7 - - - - - - - rs201421769 - -1 - HGNC HGNC:38471 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133659504-133659504 T upstream_gene_variant MODIFIER DUX4L28 ENSG00000279626 Transcript ENST00000623687.1 unprocessed_pseudogene - - - - - - - - - rs201421769 4925 1 - HGNC HGNC:51605 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133659554-133659554 C intron_variant,non_coding_transcript_variant MODIFIER CLUHP5 ENSG00000230468 Transcript ENST00000438421.1 unprocessed_pseudogene - 3/7 - - - - - - - rs79485605 - -1 - HGNC HGNC:38471 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133659554-133659554 C upstream_gene_variant MODIFIER DUX4L28 ENSG00000279626 Transcript ENST00000623687.1 unprocessed_pseudogene - - - - - - - - - rs79485605 4875 1 - HGNC HGNC:51605 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133659610-133659610 G intron_variant,non_coding_transcript_variant MODIFIER CLUHP5 ENSG00000230468 Transcript ENST00000438421.1 unprocessed_pseudogene - 3/7 - - - - - - - rs113859132 - -1 - HGNC HGNC:38471 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133659610-133659610 G upstream_gene_variant MODIFIER DUX4L28 ENSG00000279626 Transcript ENST00000623687.1 unprocessed_pseudogene - - - - - - - - - rs113859132 4819 1 - HGNC HGNC:51605 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133667520-133667520 A upstream_gene_variant MODIFIER DUX4L24 ENSG00000274599 Transcript ENST00000617576.2 unprocessed_pseudogene - - - - - - - - - - 2930 1 - HGNC HGNC:50805 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133667520-133667520 A downstream_gene_variant MODIFIER DUX4L28 ENSG00000279626 Transcript ENST00000623687.1 unprocessed_pseudogene - - - - - - - - - - 2414 1 - HGNC HGNC:51605 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133667520-133667520 A non_coding_transcript_exon_variant MODIFIER DUX4L25 ENSG00000280337 Transcript ENST00000624915.1 unprocessed_pseudogene 1/1 - - - 370 - - - - - - 1 - HGNC HGNC:50806 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133667525-133667525 A upstream_gene_variant MODIFIER DUX4L24 ENSG00000274599 Transcript ENST00000617576.2 unprocessed_pseudogene - - - - - - - - - - 2925 1 - HGNC HGNC:50805 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133667525-133667525 A downstream_gene_variant MODIFIER DUX4L28 ENSG00000279626 Transcript ENST00000623687.1 unprocessed_pseudogene - - - - - - - - - - 2419 1 - HGNC HGNC:51605 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133667525-133667525 A non_coding_transcript_exon_variant MODIFIER DUX4L25 ENSG00000280337 Transcript ENST00000624915.1 unprocessed_pseudogene 1/1 - - - 375 - - - - - - 1 - HGNC HGNC:50806 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133689561-133689561 C downstream_gene_variant MODIFIER DUX4L20 ENSG00000276164 Transcript ENST00000619712.1 unprocessed_pseudogene - - - - - - - - - rs1590007190 4625 1 - HGNC HGNC:50801 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133689634-133689634 A downstream_gene_variant MODIFIER DUX4L20 ENSG00000276164 Transcript ENST00000619712.1 unprocessed_pseudogene - - - - - - - - - rs1311393228 4698 1 - HGNC HGNC:50801 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133778123-133778123 A upstream_gene_variant MODIFIER RPL23AP60 ENSG00000213147 Transcript ENST00000450011.1 processed_pseudogene - - - - - - - - - rs1564890297 123 1 - HGNC HGNC:35966 - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133778123-133778123 A downstream_gene_variant MODIFIER - ENSG00000282875 Transcript ENST00000635574.1 processed_pseudogene - - - - - - - - - rs1564890297 135 -1 - - - - - - - - Ensembl - G G - - - - - - - - - - - - - . 10:133778244-133778244 T upstream_gene_variant MODIFIER RPL23AP60 ENSG00000213147 Transcript ENST00000450011.1 processed_pseudogene - - - - - - - - - rs1381508739 2 1 - HGNC HGNC:35966 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133778244-133778244 T downstream_gene_variant MODIFIER - ENSG00000282875 Transcript ENST00000635574.1 processed_pseudogene - - - - - - - - - rs1381508739 14 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133778244-133778244 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000420881 TF_binding_site - - - - - - - - - rs1381508739 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:133778290-133778290 G non_coding_transcript_exon_variant MODIFIER RPL23AP60 ENSG00000213147 Transcript ENST00000450011.1 processed_pseudogene 1/1 - - - 45 - - - - rs61868647 - 1 - HGNC HGNC:35966 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133778290-133778290 G non_coding_transcript_exon_variant MODIFIER - ENSG00000282875 Transcript ENST00000635574.1 processed_pseudogene 1/1 - - - 209 - - - - rs61868647 - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133778290-133778290 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000420881 TF_binding_site - - - - - - - - - rs61868647 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:133778295-133778295 C non_coding_transcript_exon_variant MODIFIER RPL23AP60 ENSG00000213147 Transcript ENST00000450011.1 processed_pseudogene 1/1 - - - 50 - - - - - - 1 - HGNC HGNC:35966 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133778295-133778295 C non_coding_transcript_exon_variant MODIFIER - ENSG00000282875 Transcript ENST00000635574.1 processed_pseudogene 1/1 - - - 204 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133778295-133778295 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000420881 TF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:133778301-133778301 C non_coding_transcript_exon_variant MODIFIER RPL23AP60 ENSG00000213147 Transcript ENST00000450011.1 processed_pseudogene 1/1 - - - 56 - - - - - - 1 - HGNC HGNC:35966 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133778301-133778301 C non_coding_transcript_exon_variant MODIFIER - ENSG00000282875 Transcript ENST00000635574.1 processed_pseudogene 1/1 - - - 198 - - - - - - -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133778301-133778301 C regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000420881 TF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:133778301-133778301 C TF_binding_site_variant MODIFIER - - MotifFeature ENSM00207523474 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0290 3 Y -0.031 HNF4A,RXRG,NR2F6,NR2F1,NR2C2,RXRA,RXRB . 10:133778372-133778372 T non_coding_transcript_exon_variant MODIFIER RPL23AP60 ENSG00000213147 Transcript ENST00000450011.1 processed_pseudogene 1/1 - - - 127 - - - - - - 1 - HGNC HGNC:35966 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133778372-133778372 T non_coding_transcript_exon_variant MODIFIER - ENSG00000282875 Transcript ENST00000635574.1 processed_pseudogene 1/1 - - - 127 - - - - - - -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133778372-133778372 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000420881 TF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:133778372-133778372 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00332256668 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0260 6 N -0.068 GCM2::MAX . 10:133778372-133778372 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00388185538 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0374 10 N -0.006 MEIS1::MAX . 10:133778372-133778372 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00322741375 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0240 10 N -0.011 GCM1::MAX . 10:133778372-133778372 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00494948679 - - - - - - - - - - - - -1 - - - - - - - - - - - - - - - - - - - - ENSPFM0598 23 N 0.000 TFAP2C::MAX . 10:133778372-133778372 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00517697511 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0401 10 N 0.000 MYBL1::MAX . 10:133778372-133778372 T TF_binding_site_variant MODIFIER - - MotifFeature ENSM00383761780 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0365 11 N -0.010 MAX,TFAP4::MAX,CLOCK::BHLHA15 . 10:133778500-133778500 T non_coding_transcript_exon_variant MODIFIER RPL23AP60 ENSG00000213147 Transcript ENST00000450011.1 processed_pseudogene 1/1 - - - 255-256 - - - - - - 1 - HGNC HGNC:35966 - - - - - Ensembl - - - - - - - - - - - - - - - - . 10:133778500-133778500 T upstream_gene_variant MODIFIER - ENSG00000282875 Transcript ENST00000635574.1 processed_pseudogene - - - - - - - - - - 2 -1 - - - - - - - - Ensembl - - - - - - - - - - - - - - - - . 10:133778500-133778500 T regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000420881 TF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:133778639-133778644 - non_coding_transcript_exon_variant MODIFIER RPL23AP60 ENSG00000213147 Transcript ENST00000450011.1 processed_pseudogene 1/1 - - - 397-399 - - - - - - 1 - HGNC HGNC:35966 - - - - - Ensembl - CAA CAA - - - - - - - - - - - - - . 10:133778639-133778644 - upstream_gene_variant MODIFIER - ENSG00000282875 Transcript ENST00000635574.1 processed_pseudogene - - - - - - - - - - 144 -1 - - - - - - - - Ensembl - CAA CAA - - - - - - - - - - - - - . 10:133778639-133778644 - regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000420881 TF_binding_site - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:133778639-133778644 - TF_binding_site_variant MODIFIER - - MotifFeature ENSM00380493036 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0359 7 N - LEF1,TCF7L1 . 10:133778639-133778644 - TF_binding_site_variant MODIFIER - - MotifFeature ENSM00447477423 - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0498 16 N - SOX6::TBX21 . 10:133778642-133778642 G non_coding_transcript_exon_variant MODIFIER RPL23AP60 ENSG00000213147 Transcript ENST00000450011.1 processed_pseudogene 1/1 - - - 397 - - - - rs1468415199 - 1 - HGNC HGNC:35966 - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133778642-133778642 G upstream_gene_variant MODIFIER - ENSG00000282875 Transcript ENST00000635574.1 processed_pseudogene - - - - - - - - - rs1468415199 144 -1 - - - - - - - - Ensembl - C C - - - - - - - - - - - - - . 10:133778642-133778642 G regulatory_region_variant MODIFIER - - RegulatoryFeature ENSR00000420881 TF_binding_site - - - - - - - - - rs1468415199 - - - - - - - - - - - - - - - - - - - - - - - - - - - . 10:133778642-133778642 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00380493036 - - - - - - - - - - rs1468415199 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0359 7 Y -0.036 LEF1,TCF7L1 . 10:133778642-133778642 G TF_binding_site_variant MODIFIER - - MotifFeature ENSM00447477423 - - - - - - - - - - rs1468415199 - 1 - - - - - - - - - - - - - - - - - - - - ENSPFM0498 16 N -0.047 SOX6::TBX21 . 10:133778706-133778706 C downstream_gene_variant MODIFIER RPL23AP60 ENSG00000213147 Transcript ENST00000450011.1 processed_pseudogene - - - - - - - - - - 7 1 - HGNC HGNC:35966 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133778706-133778706 C upstream_gene_variant MODIFIER - ENSG00000282875 Transcript ENST00000635574.1 processed_pseudogene - - - - - - - - - - 208 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133778748-133778748 C downstream_gene_variant MODIFIER RPL23AP60 ENSG00000213147 Transcript ENST00000450011.1 processed_pseudogene - - - - - - - - - - 49 1 - HGNC HGNC:35966 - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133778748-133778748 C upstream_gene_variant MODIFIER - ENSG00000282875 Transcript ENST00000635574.1 processed_pseudogene - - - - - - - - - - 250 -1 - - - - - - - - Ensembl - T T - - - - - - - - - - - - - . 10:133778828-133778828 G downstream_gene_variant MODIFIER RPL23AP60 ENSG00000213147 Transcript ENST00000450011.1 processed_pseudogene - - - - - - - - - rs1316270111 129 1 - HGNC HGNC:35966 - - - - - Ensembl - A A - - - - - - - - - - - - - . 10:133778828-133778828 G upstream_gene_variant MODIFIER - ENSG00000282875 Transcript ENST00000635574.1 processed_pseudogene - - - - - - - - - rs1316270111 330 -1 - - - - - - - - Ensembl - A A - - - - - - - - - - - - -