#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 . 10:48054-48054 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 - - - - - - . 10:1096268-1096268 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 - - - - - - . 10:3138811-3138811 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 - - - - - - . 10:6825217-6825217 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 - - - - - - - - - - - - - . 10:24585568-24585571 - 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 - 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 - 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 - 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 - 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 - 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 - - - - - - - - - - - - - . 10:30857686-30857686 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 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 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 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 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 - - - - - . 10:38362239-38362239 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 - - - - - - - - - - - - . 10:38651226-38651226 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 - - - - - - - - - - - - - . 10:42823211-42823211 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 - - - - - - . 10:49988768-49988770 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 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 - - - - - - . 10:50008914-50008917 - 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 - 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 - - - - - - . 10:63153553-63153553 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 - - - - - - - - - - - - - . 10:72204485-72204485 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 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 - - - - - . 10:87864471-87864471 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 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 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 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 - - - - - - . 10:122454839-122454839 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 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 - - - - - . 10:133625101-133625101 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 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 - - - - - -