Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 48614027 48614027 + Missense_Mutation SNP G G T TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr17:48614027G>T c.110G>T c.(109-111)aGt>aTt p.S37I ACC 17 48614119 48614119 + Missense_Mutation SNP G G T TCGA-PK-A5H8-01A-11D-A29I-10 TCGA-PK-A5H8-10A-01D-A29L-10 g.chr17:48614119G>T c.202G>T c.(202-204)Ggc>Tgc p.G68C ACC 17 48614456 48614456 + Missense_Mutation SNP G G A TCGA-OR-A5L6-01A-11D-A29I-10 TCGA-OR-A5L6-10C-01D-A29L-10 g.chr17:48614456G>A c.539G>A c.(538-540)cGg>cAg p.R180Q ACC 17 48619272 48619272 + Silent SNP G G A TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr17:48619272G>A c.1653G>A c.(1651-1653)caG>caA p.Q551Q ACC 17 48619290 48619290 + Silent SNP G G A TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr17:48619290G>A c.1671G>A c.(1669-1671)ccG>ccA p.P557P BLCA 17 48614133 48614133 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr17:48614133G>A c.216G>A c.(214-216)cgG>cgA p.R72R BLCA 17 48616645 48616645 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr17:48616645G>C c.860G>C c.(859-861)aGa>aCa p.R287T BLCA 17 48618226 48618226 + Missense_Mutation SNP C C T TCGA-GD-A2C5-01A-12D-A17V-08 TCGA-GD-A2C5-10A-01D-A17V-08 g.chr17:48618226C>T c.1052C>T c.(1051-1053)tCa>tTa p.S351L BLCA 17 48618412 48618412 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr17:48618412C>T c.1238C>T c.(1237-1239)tCc>tTc p.S413F BLCA 17 48618874 48618874 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr17:48618874G>A c.1404G>A c.(1402-1404)acG>acA p.T468T BLCA 17 48619005 48619005 + Missense_Mutation SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr17:48619005C>T c.1535C>T c.(1534-1536)tCg>tTg p.S512L BLCA 17 48619216 48619216 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr17:48619216C>T c.1597C>T c.(1597-1599)Ccg>Tcg p.P533S BRCA 17 48614030 48614030 + Missense_Mutation SNP C C T TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 g.chr17:48614030C>T c.113C>T c.(112-114)tCg>tTg p.S38L BRCA 17 48616614 48616614 + Nonsense_Mutation SNP C C T TCGA-E9-A3QA-01A-61D-A228-09 TCGA-E9-A3QA-10A-01D-A22A-09 g.chr17:48616614C>T c.829C>T c.(829-831)Cag>Tag p.Q277* BRCA 17 48619018 48619018 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr17:48619018A>C c.1548A>C c.(1546-1548)gcA>gcC p.A516A CESC 17 48618234 48618234 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 g.chr17:48618234G>A c.1060G>A c.(1060-1062)Gtc>Atc p.V354I CESC 17 48618394 48618394 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr17:48618394G>C c.1220G>C c.(1219-1221)gGa>gCa p.G407A COAD 17 48614046 48614046 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:48614046C>T c.129C>T c.(127-129)atC>atT p.I43I COAD 17 48614290 48614290 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr17:48614290G>A c.373G>A c.(373-375)Gag>Aag p.E125K COAD 17 48618667 48618667 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:48618667C>T c.1327C>T c.(1327-1329)Ccc>Tcc p.P443S COAD 17 48618846 48618846 + Missense_Mutation SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr17:48618846C>A c.1376C>A c.(1375-1377)cCc>cAc p.P459H COADREAD 17 48614046 48614046 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:48614046C>T c.129C>T c.(127-129)atC>atT p.I43I COADREAD 17 48614238 48614238 + Silent SNP G G A TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr17:48614238G>A c.321G>A c.(319-321)aaG>aaA p.K107K COADREAD 17 48614290 48614290 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr17:48614290G>A c.373G>A c.(373-375)Gag>Aag p.E125K COADREAD 17 48618667 48618667 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:48618667C>T c.1327C>T c.(1327-1329)Ccc>Tcc p.P443S COADREAD 17 48618846 48618846 + Missense_Mutation SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr17:48618846C>A c.1376C>A c.(1375-1377)cCc>cAc p.P459H ESCA 17 48618874 48618874 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr17:48618874G>T c.1404G>T c.(1402-1404)acG>acT p.T468T GBM 17 48614388 48614388 + Silent SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr17:48614388G>A c.471G>A c.(469-471)gaG>gaA p.E157E GBMLGG 17 48614388 48614388 + Silent SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr17:48614388G>A c.471G>A c.(469-471)gaG>gaA p.E157E GBMLGG 17 48616601 48616601 + Silent SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr17:48616601C>T c.816C>T c.(814-816)gcC>gcT p.A272A GBMLGG 17 48616618 48616618 + Missense_Mutation SNP G G A TCGA-CS-6186-01A-12D-2024-08 TCGA-CS-6186-10A-01D-2024-08 g.chr17:48616618G>A c.833G>A c.(832-834)cGg>cAg p.R278Q HNSC 17 48613940 48613940 + Missense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 g.chr17:48613940G>T c.23G>T c.(22-24)cGc>cTc p.R8L HNSC 17 48615544 48615544 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr17:48615544G>A c.667G>A c.(667-669)Gag>Aag p.E223K HNSC 17 48618421 48618421 + Missense_Mutation SNP C C G TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr17:48618421C>G c.1247C>G c.(1246-1248)cCt>cGt p.P416R HNSC 17 48618684 48618684 + Silent SNP C C T TCGA-CN-A641-01A-11D-A30E-08 TCGA-CN-A641-10A-01D-A30H-08 g.chr17:48618684C>T c.1344C>T c.(1342-1344)agC>agT p.S448S HNSC 17 48618855 48618855 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 g.chr17:48618855G>A c.1385G>A c.(1384-1386)aGt>aAt p.S462N HNSC 17 48619236 48619236 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 g.chr17:48619236C>T c.1617C>T c.(1615-1617)ttC>ttT p.F539F KICH 17 48619290 48619290 + Silent SNP G G A TCGA-KO-8405-01A-11D-2310-10 TCGA-KO-8405-11A-01D-2311-10 g.chr17:48619290G>A c.1671G>A c.(1669-1671)ccG>ccA p.P557P KIPAN 17 48615544 48615544 + Missense_Mutation SNP G G A TCGA-B3-4104-01A-01D-1458-08 TCGA-B3-4104-10A-01D-1458-08 g.chr17:48615544G>A c.667G>A c.(667-669)Gag>Aag p.E223K KIPAN 17 48616322 48616322 + Missense_Mutation SNP G G C TCGA-B3-4104-01A-01D-1458-08 TCGA-B3-4104-10A-01D-1458-08 g.chr17:48616322G>C c.759G>C c.(757-759)gaG>gaC p.E253D KIPAN 17 48618639 48618639 + Silent SNP G G A TCGA-CZ-4857-01A-01D-1373-10 TCGA-CZ-4857-11A-01D-1373-10 g.chr17:48618639G>A c.1299G>A c.(1297-1299)gaG>gaA p.E433E KIPAN 17 48619290 48619290 + Silent SNP G G A TCGA-KO-8405-01A-11D-2310-10 TCGA-KO-8405-11A-01D-2311-10 g.chr17:48619290G>A c.1671G>A c.(1669-1671)ccG>ccA p.P557P KIRC 17 48618639 48618639 + Silent SNP G G A TCGA-CZ-4857-01A-01D-1373-10 TCGA-CZ-4857-11A-01D-1373-10 g.chr17:48618639G>A c.1299G>A c.(1297-1299)gaG>gaA p.E433E KIRP 17 48615544 48615544 + Missense_Mutation SNP G G A TCGA-B3-4104-01A-01D-1458-08 TCGA-B3-4104-10A-01D-1458-08 g.chr17:48615544G>A c.667G>A c.(667-669)Gag>Aag p.E223K KIRP 17 48616322 48616322 + Missense_Mutation SNP G G C TCGA-B3-4104-01A-01D-1458-08 TCGA-B3-4104-10A-01D-1458-08 g.chr17:48616322G>C c.759G>C c.(757-759)gaG>gaC p.E253D LGG 17 48616601 48616601 + Silent SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr17:48616601C>T c.816C>T c.(814-816)gcC>gcT p.A272A LGG 17 48616618 48616618 + Missense_Mutation SNP G G A TCGA-CS-6186-01A-12D-2024-08 TCGA-CS-6186-10A-01D-2024-08 g.chr17:48616618G>A c.833G>A c.(832-834)cGg>cAg p.R278Q LIHC 17 48614268 48614268 + Missense_Mutation SNP G G C TCGA-2Y-A9GT-01A-11D-A382-10 TCGA-2Y-A9GT-10A-01D-A385-10 g.chr17:48614268G>C c.351G>C c.(349-351)aaG>aaC p.K117N LIHC 17 48614425 48614425 + Missense_Mutation SNP C C T TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr17:48614425C>T c.508C>T c.(508-510)Cgc>Tgc p.R170C LIHC 17 48614425 48614425 + Missense_Mutation SNP C C T TCGA-DD-A1EH-01A-11D-A12Z-10 TCGA-DD-A1EH-10A-01D-A12Z-10 g.chr17:48614425C>T c.508C>T c.(508-510)Cgc>Tgc p.R170C LUAD 17 48615485 48615485 + Missense_Mutation SNP G G T TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr17:48615485G>T c.608G>T c.(607-609)cGg>cTg p.R203L LUSC 17 48616632 48616632 + Missense_Mutation SNP G G C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr17:48616632G>C c.847G>C c.(847-849)Gag>Cag p.E283Q OV 17 48618164 48618164 + Silent SNP G G A TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 g.chr17:48618164G>A c.990G>A c.(988-990)ccG>ccA p.P330P PAAD 17 48614080 48614080 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:48614080G>A c.163G>A c.(163-165)Gaa>Aaa p.E55K PAAD 17 48618173 48618173 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:48618173G>A c.999G>A c.(997-999)gaG>gaA p.E333E PRAD 17 48614289 48614289 + Silent SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 g.chr17:48614289C>T c.372C>T c.(370-372)cgC>cgT p.R124R PRAD 17 48616673 48616673 + Silent SNP C C T TCGA-XJ-A9DQ-01A-11D-A377-08 TCGA-XJ-A9DQ-10A-01D-A37A-08 g.chr17:48616673C>T c.888C>T c.(886-888)agC>agT p.S296S READ 17 48614238 48614238 + Silent SNP G G A TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr17:48614238G>A c.321G>A c.(319-321)aaG>aaA p.K107K SARC 17 48617655 48617655 + Silent SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 g.chr17:48617655G>A c.939G>A c.(937-939)ccG>ccA p.P313P SARC 17 48618324 48618324 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr17:48618324C>T c.1150C>T c.(1150-1152)Ccc>Tcc p.P384S SKCM 17 48614080 48614080 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr17:48614080G>A c.163G>A c.(163-165)Gaa>Aaa p.E55K SKCM 17 48614370 48614370 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr17:48614370G>A c.453G>A c.(451-453)aaG>aaA p.K151K SKCM 17 48614415 48614415 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr17:48614415G>A c.498G>A c.(496-498)ctG>ctA p.L166L SKCM 17 48616258 48616258 + Missense_Mutation SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr17:48616258C>T c.695C>T c.(694-696)gCc>gTc p.A232V SKCM 17 48616568 48616568 + Silent SNP T T C TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr17:48616568T>C c.783T>C c.(781-783)ggT>ggC p.G261G SKCM 17 48617661 48617661 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 g.chr17:48617661C>T c.945C>T c.(943-945)tcC>tcT p.S315S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 48625815 48625815 single base substitution G A downstream_gene_variant BLCA-US 17 48614133 48614133 single base substitution G A downstream_gene_variant BLCA-US 17 48614133 48614133 single base substitution G A exon_variant BLCA-US 17 48614133 48614133 single base substitution G A synonymous_variant R127R 381G>A BLCA-US 17 48614133 48614133 single base substitution G A synonymous_variant R16R 48G>A BLCA-US 17 48614133 48614133 single base substitution G A synonymous_variant R72R 216G>A BLCA-US 17 48616645 48616645 single base substitution G C 3_prime_UTR_variant BLCA-US 17 48616645 48616645 single base substitution G C downstream_gene_variant BLCA-US 17 48616645 48616645 single base substitution G C exon_variant BLCA-US 17 48616645 48616645 single base substitution G C missense_variant R204T 611G>C BLCA-US 17 48616645 48616645 single base substitution G C missense_variant R287T 860G>C BLCA-US 17 48616645 48616645 single base substitution G C missense_variant R315T 944G>C BLCA-US 17 48618226 48618226 single base substitution C T 3_prime_UTR_variant BLCA-US 17 48618226 48618226 single base substitution C T downstream_gene_variant BLCA-US 17 48618226 48618226 single base substitution C T missense_variant S351L 1052C>T BLCA-US 17 48618226 48618226 single base substitution C T missense_variant S379L 1136C>T BLCA-US 17 48618226 48618226 single base substitution C T stop_gained Q239* 715C>T BLCA-US 17 48618412 48618412 single base substitution C T 3_prime_UTR_variant BLCA-US 17 48618412 48618412 single base substitution C T downstream_gene_variant BLCA-US 17 48618412 48618412 single base substitution C T missense_variant S413F 1238C>T BLCA-US 17 48618412 48618412 single base substitution C T missense_variant S441F 1322C>T BLCA-US 17 48618874 48618874 single base substitution G A 3_prime_UTR_variant BLCA-US 17 48618874 48618874 single base substitution G A downstream_gene_variant BLCA-US 17 48618874 48618874 single base substitution G A synonymous_variant T468T 1404G>A BLCA-US 17 48618874 48618874 single base substitution G A synonymous_variant T496T 1488G>A BLCA-US 17 48619216 48619216 single base substitution C T 3_prime_UTR_variant BLCA-US 17 48619216 48619216 single base substitution C T downstream_gene_variant BLCA-US 17 48619216 48619216 single base substitution C T missense_variant P533S 1597C>T BLCA-US 17 48619216 48619216 single base substitution C T missense_variant P561S 1681C>T BRCA-EU 17 48605146 48605146 single base substitution C G upstream_gene_variant BRCA-EU 17 48605407 48605407 single base substitution C A upstream_gene_variant BRCA-EU 17 48605592 48605592 single base substitution G C upstream_gene_variant BRCA-EU 17 48606895 48606895 single base substitution C A upstream_gene_variant BRCA-EU 17 48607960 48607960 single base substitution C T upstream_gene_variant BRCA-EU 17 48608262 48608262 single base substitution G A upstream_gene_variant BRCA-EU 17 48609945 48609945 single base substitution G A 5_prime_UTR_variant BRCA-EU 17 48609945 48609945 single base substitution G A upstream_gene_variant BRCA-EU 17 48610027 48610027 single base substitution C G 5_prime_UTR_variant BRCA-EU 17 48610027 48610027 single base substitution C G upstream_gene_variant BRCA-EU 17 48610894 48610894 single base substitution G A intron_variant BRCA-EU 17 48610894 48610894 single base substitution G A upstream_gene_variant BRCA-EU 17 48613537 48613537 single base substitution C T 5_prime_UTR_variant BRCA-EU 17 48613537 48613537 single base substitution C T exon_variant BRCA-EU 17 48613537 48613537 single base substitution C T intron_variant BRCA-EU 17 48613537 48613537 single base substitution C T upstream_gene_variant BRCA-EU 17 48614000 48614000 single base substitution C T 5_prime_UTR_variant BRCA-EU 17 48614000 48614000 single base substitution C T downstream_gene_variant BRCA-EU 17 48614000 48614000 single base substitution C T exon_variant BRCA-EU 17 48614000 48614000 single base substitution C T intron_variant BRCA-EU 17 48614000 48614000 single base substitution C T missense_variant T28I 83C>T BRCA-EU 17 48615709 48615709 single base substitution G A downstream_gene_variant BRCA-EU 17 48615709 48615709 single base substitution G A intron_variant BRCA-EU 17 48616408 48616408 single base substitution C T downstream_gene_variant BRCA-EU 17 48616408 48616408 single base substitution C T intron_variant BRCA-EU 17 48617408 48617408 single base substitution A G downstream_gene_variant BRCA-EU 17 48617408 48617408 single base substitution A G intron_variant BRCA-EU 17 48617662 48617662 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 48617662 48617662 single base substitution A G downstream_gene_variant BRCA-EU 17 48617662 48617662 single base substitution A G intron_variant BRCA-EU 17 48617662 48617662 single base substitution A G missense_variant T316A 946A>G BRCA-EU 17 48617662 48617662 single base substitution A G missense_variant T344A 1030A>G BRCA-EU 17 48617924 48617924 single base substitution T C downstream_gene_variant BRCA-EU 17 48617924 48617924 single base substitution T C intron_variant BRCA-EU 17 48618663 48618663 single base substitution C A 3_prime_UTR_variant BRCA-EU 17 48618663 48618663 single base substitution C A downstream_gene_variant BRCA-EU 17 48618663 48618663 single base substitution C A synonymous_variant A441A 1323C>A BRCA-EU 17 48618663 48618663 single base substitution C A synonymous_variant A469A 1407C>A BRCA-EU 17 48619936 48619936 single base substitution T G 3_prime_UTR_variant BRCA-EU 17 48619936 48619936 single base substitution T G downstream_gene_variant BRCA-EU 17 48621174 48621174 single base substitution T A downstream_gene_variant BRCA-EU 17 48621558 48621558 single base substitution C T downstream_gene_variant BRCA-EU 17 48621963 48621963 single base substitution G C downstream_gene_variant BRCA-EU 17 48622351 48622351 single base substitution C T downstream_gene_variant BRCA-EU 17 48622648 48622648 single base substitution C A downstream_gene_variant BRCA-EU 17 48622935 48622935 single base substitution T A downstream_gene_variant BRCA-EU 17 48623534 48623534 single base substitution C A downstream_gene_variant BRCA-EU 17 48624394 48624394 single base substitution G A downstream_gene_variant BRCA-EU 17 48624872 48624872 single base substitution G C downstream_gene_variant BRCA-EU 17 48625558 48625558 single base substitution G A downstream_gene_variant BRCA-EU 17 48625666 48625666 single base substitution G A downstream_gene_variant BRCA-EU 17 48625847 48625847 single base substitution C T downstream_gene_variant BRCA-FR 17 48605407 48605407 single base substitution C A upstream_gene_variant BRCA-FR 17 48605592 48605592 single base substitution G C upstream_gene_variant BRCA-FR 17 48607960 48607960 single base substitution C T upstream_gene_variant BRCA-FR 17 48608262 48608262 single base substitution G A upstream_gene_variant BRCA-FR 17 48609945 48609945 single base substitution G A 5_prime_UTR_variant BRCA-FR 17 48609945 48609945 single base substitution G A upstream_gene_variant BRCA-FR 17 48612133 48612133 single base substitution G A intron_variant BRCA-FR 17 48612133 48612133 single base substitution G A upstream_gene_variant BRCA-FR 17 48615348 48615348 single base substitution C T downstream_gene_variant BRCA-FR 17 48615348 48615348 single base substitution C T intron_variant BRCA-FR 17 48617508 48617508 single base substitution G T downstream_gene_variant BRCA-FR 17 48617508 48617508 single base substitution G T intron_variant BRCA-FR 17 48618762 48618762 single base substitution C A downstream_gene_variant BRCA-FR 17 48618762 48618762 single base substitution C A intron_variant BRCA-FR 17 48619618 48619618 single base substitution C G 3_prime_UTR_variant BRCA-FR 17 48619618 48619618 single base substitution C G downstream_gene_variant BRCA-FR 17 48620172 48620172 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 48620172 48620172 single base substitution G A downstream_gene_variant BRCA-FR 17 48620175 48620175 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 48620175 48620175 single base substitution G A downstream_gene_variant BRCA-FR 17 48621558 48621558 single base substitution C T downstream_gene_variant BRCA-FR 17 48622198 48622198 single base substitution A T downstream_gene_variant BRCA-FR 17 48623534 48623534 single base substitution C A downstream_gene_variant BRCA-US 17 48606547 48606547 single base substitution G A upstream_gene_variant BRCA-US 17 48614030 48614030 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 17 48614030 48614030 single base substitution C T downstream_gene_variant BRCA-US 17 48614030 48614030 single base substitution C T exon_variant BRCA-US 17 48614030 48614030 single base substitution C T intron_variant BRCA-US 17 48614030 48614030 single base substitution C T missense_variant S38L 113C>T BRCA-US 17 48616614 48616614 single base substitution C T 3_prime_UTR_variant BRCA-US 17 48616614 48616614 single base substitution C T downstream_gene_variant BRCA-US 17 48616614 48616614 single base substitution C T exon_variant BRCA-US 17 48616614 48616614 single base substitution C T stop_gained Q194* 580C>T BRCA-US 17 48616614 48616614 single base substitution C T stop_gained Q277* 829C>T BRCA-US 17 48616614 48616614 single base substitution C T stop_gained Q305* 913C>T BRCA-US 17 48619018 48619018 single base substitution A C 3_prime_UTR_variant BRCA-US 17 48619018 48619018 single base substitution A C downstream_gene_variant BRCA-US 17 48619018 48619018 single base substitution A C synonymous_variant A516A 1548A>C BRCA-US 17 48619018 48619018 single base substitution A C synonymous_variant A544A 1632A>C BTCA-JP 17 48607530 48607530 single base substitution G A upstream_gene_variant BTCA-JP 17 48613889 48613889 single base substitution G A 5_prime_UTR_variant BTCA-JP 17 48613889 48613889 single base substitution G A downstream_gene_variant BTCA-JP 17 48613889 48613889 single base substitution G A exon_variant BTCA-JP 17 48613889 48613889 single base substitution G A intron_variant BTCA-JP 17 48613889 48613889 single base substitution G A synonymous_variant A73A 219G>A BTCA-JP 17 48619241 48619241 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 48619241 48619241 single base substitution C T downstream_gene_variant BTCA-JP 17 48619241 48619241 single base substitution C T missense_variant A541V 1622C>T BTCA-JP 17 48619241 48619241 single base substitution C T missense_variant A569V 1706C>T BTCA-JP 17 48619515 48619515 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 48619515 48619515 single base substitution C T downstream_gene_variant BTCA-JP 17 48619515 48619515 single base substitution C T synonymous_variant L632L 1896C>T BTCA-JP 17 48619515 48619515 single base substitution C T synonymous_variant L660L 1980C>T CESC-US 17 48618234 48618234 single base substitution G A 3_prime_UTR_variant CESC-US 17 48618234 48618234 single base substitution G A downstream_gene_variant CESC-US 17 48618234 48618234 single base substitution G A missense_variant V354I 1060G>A CESC-US 17 48618234 48618234 single base substitution G A missense_variant V382I 1144G>A CESC-US 17 48618234 48618234 single base substitution G A synonymous_variant P241P 723G>A CESC-US 17 48618394 48618394 single base substitution G C 3_prime_UTR_variant CESC-US 17 48618394 48618394 single base substitution G C downstream_gene_variant CESC-US 17 48618394 48618394 single base substitution G C missense_variant G407A 1220G>C CESC-US 17 48618394 48618394 single base substitution G C missense_variant G435A 1304G>C CESC-US 17 48625393 48625393 single base substitution C T downstream_gene_variant CESC-US 17 48625789 48625789 single base substitution C T downstream_gene_variant CLLE-ES 17 48613496 48613496 single base substitution G A 5_prime_UTR_variant CLLE-ES 17 48613496 48613496 single base substitution G A exon_variant CLLE-ES 17 48613496 48613496 single base substitution G A intron_variant CLLE-ES 17 48613496 48613496 single base substitution G A upstream_gene_variant CLLE-ES 17 48616333 48616333 single base substitution G A downstream_gene_variant CLLE-ES 17 48616333 48616333 single base substitution G A intron_variant CLLE-ES 17 48616333 48616333 single base substitution G A splice_region_variant CLLE-ES 17 48623070 48623070 single base substitution C T downstream_gene_variant COAD-US 17 48606426 48606426 single base substitution C A upstream_gene_variant COAD-US 17 48614426 48614426 single base substitution G A 3_prime_UTR_variant COAD-US 17 48614426 48614426 single base substitution G A downstream_gene_variant COAD-US 17 48614426 48614426 single base substitution G A exon_variant COAD-US 17 48614426 48614426 single base substitution G A missense_variant R114H 341G>A COAD-US 17 48614426 48614426 single base substitution G A missense_variant R170H 509G>A COAD-US 17 48614426 48614426 single base substitution G A missense_variant R225H 674G>A COAD-US 17 48615457 48615457 single base substitution C T 3_prime_UTR_variant COAD-US 17 48615457 48615457 single base substitution C T downstream_gene_variant COAD-US 17 48615457 48615457 single base substitution C T exon_variant COAD-US 17 48615457 48615457 single base substitution C T intron_variant COAD-US 17 48615457 48615457 single base substitution C T missense_variant R138C 412C>T COAD-US 17 48615457 48615457 single base substitution C T missense_variant R194C 580C>T COAD-US 17 48615457 48615457 single base substitution C T missense_variant R249C 745C>T COAD-US 17 48618360 48618360 single base substitution C T 3_prime_UTR_variant COAD-US 17 48618360 48618360 single base substitution C T downstream_gene_variant COAD-US 17 48618360 48618360 single base substitution C T missense_variant H396Y 1186C>T COAD-US 17 48618360 48618360 single base substitution C T missense_variant H424Y 1270C>T COAD-US 17 48618846 48618846 single base substitution C A 3_prime_UTR_variant COAD-US 17 48618846 48618846 single base substitution C A downstream_gene_variant COAD-US 17 48618846 48618846 single base substitution C A missense_variant P459H 1376C>A COAD-US 17 48618846 48618846 single base substitution C A missense_variant P487H 1460C>A COAD-US 17 48619249 48619249 single base substitution C A 3_prime_UTR_variant COAD-US 17 48619249 48619249 single base substitution C A downstream_gene_variant COAD-US 17 48619249 48619249 single base substitution C A missense_variant P544T 1630C>A COAD-US 17 48619249 48619249 single base substitution C A missense_variant P572T 1714C>A COAD-US 17 48619272 48619272 single base substitution G A 3_prime_UTR_variant COAD-US 17 48619272 48619272 single base substitution G A downstream_gene_variant COAD-US 17 48619272 48619272 single base substitution G A synonymous_variant Q551Q 1653G>A COAD-US 17 48619272 48619272 single base substitution G A synonymous_variant Q579Q 1737G>A COAD-US 17 48619290 48619290 single base substitution G A 3_prime_UTR_variant COAD-US 17 48619290 48619290 single base substitution G A downstream_gene_variant COAD-US 17 48619290 48619290 single base substitution G A synonymous_variant P557P 1671G>A COAD-US 17 48619290 48619290 single base substitution G A synonymous_variant P585P 1755G>A COCA-CN 17 48605826 48605826 single base substitution G C upstream_gene_variant COCA-CN 17 48606523 48606523 single base substitution A G upstream_gene_variant COCA-CN 17 48607614 48607614 single base substitution G A upstream_gene_variant COCA-CN 17 48610272 48610272 single base substitution G C 5_prime_UTR_variant COCA-CN 17 48610272 48610272 single base substitution G C exon_variant COCA-CN 17 48610272 48610272 single base substitution G C intron_variant COCA-CN 17 48610272 48610272 single base substitution G C missense_variant A13P 37G>C COCA-CN 17 48610272 48610272 single base substitution G C upstream_gene_variant COCA-CN 17 48615532 48615532 single base substitution G A 3_prime_UTR_variant COCA-CN 17 48615532 48615532 single base substitution G A downstream_gene_variant COCA-CN 17 48615532 48615532 single base substitution G A exon_variant COCA-CN 17 48615532 48615532 single base substitution G A missense_variant A163T 487G>A COCA-CN 17 48615532 48615532 single base substitution G A missense_variant A219T 655G>A COCA-CN 17 48615532 48615532 single base substitution G A missense_variant A274T 820G>A COCA-CN 17 48625670 48625670 single base substitution G A downstream_gene_variant ESAD-UK 17 48607143 48607143 single base substitution C T upstream_gene_variant ESAD-UK 17 48614428 48614428 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 48614428 48614428 single base substitution C T downstream_gene_variant ESAD-UK 17 48614428 48614428 single base substitution C T exon_variant ESAD-UK 17 48614428 48614428 single base substitution C T missense_variant R115C 343C>T ESAD-UK 17 48614428 48614428 single base substitution C T missense_variant R171C 511C>T ESAD-UK 17 48614428 48614428 single base substitution C T missense_variant R226C 676C>T ESAD-UK 17 48614791 48614791 single base substitution C A downstream_gene_variant ESAD-UK 17 48614791 48614791 single base substitution C A intron_variant ESAD-UK 17 48619718 48619718 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 48619718 48619718 single base substitution C T downstream_gene_variant ESAD-UK 17 48619881 48619881 single base substitution C A 3_prime_UTR_variant ESAD-UK 17 48619881 48619881 single base substitution C A downstream_gene_variant ESCA-CN 17 48606313 48606313 single base substitution G A upstream_gene_variant GBM-US 17 48614388 48614388 single base substitution G A 3_prime_UTR_variant GBM-US 17 48614388 48614388 single base substitution G A downstream_gene_variant GBM-US 17 48614388 48614388 single base substitution G A exon_variant GBM-US 17 48614388 48614388 single base substitution G A synonymous_variant E101E 303G>A GBM-US 17 48614388 48614388 single base substitution G A synonymous_variant E157E 471G>A GBM-US 17 48614388 48614388 single base substitution G A synonymous_variant E212E 636G>A KIRC-US 17 48618639 48618639 single base substitution G A 3_prime_UTR_variant KIRC-US 17 48618639 48618639 single base substitution G A downstream_gene_variant KIRC-US 17 48618639 48618639 single base substitution G A synonymous_variant E433E 1299G>A KIRC-US 17 48618639 48618639 single base substitution G A synonymous_variant E461E 1383G>A LAML-KR 17 48608717 48608717 single base substitution T C upstream_gene_variant LAML-KR 17 48619272 48619272 single base substitution G A 3_prime_UTR_variant LAML-KR 17 48619272 48619272 single base substitution G A downstream_gene_variant LAML-KR 17 48619272 48619272 single base substitution G A synonymous_variant Q551Q 1653G>A LAML-KR 17 48619272 48619272 single base substitution G A synonymous_variant Q579Q 1737G>A LGG-US 17 48613860 48613860 single base substitution G A 5_prime_UTR_variant LGG-US 17 48613860 48613860 single base substitution G A downstream_gene_variant LGG-US 17 48613860 48613860 single base substitution G A exon_variant LGG-US 17 48613860 48613860 single base substitution G A intron_variant LGG-US 17 48613860 48613860 single base substitution G A missense_variant A64T 190G>A LGG-US 17 48616601 48616601 single base substitution C T 3_prime_UTR_variant LGG-US 17 48616601 48616601 single base substitution C T downstream_gene_variant LGG-US 17 48616601 48616601 single base substitution C T exon_variant LGG-US 17 48616601 48616601 single base substitution C T synonymous_variant A189A 567C>T LGG-US 17 48616601 48616601 single base substitution C T synonymous_variant A272A 816C>T LGG-US 17 48616601 48616601 single base substitution C T synonymous_variant A300A 900C>T LGG-US 17 48616618 48616618 single base substitution G A 3_prime_UTR_variant LGG-US 17 48616618 48616618 single base substitution G A downstream_gene_variant LGG-US 17 48616618 48616618 single base substitution G A exon_variant LGG-US 17 48616618 48616618 single base substitution G A missense_variant R195Q 584G>A LGG-US 17 48616618 48616618 single base substitution G A missense_variant R278Q 833G>A LGG-US 17 48616618 48616618 single base substitution G A missense_variant R306Q 917G>A LICA-CN 17 48605545 48605545 single base substitution G A upstream_gene_variant LICA-CN 17 48615536 48615536 single base substitution T A 3_prime_UTR_variant LICA-CN 17 48615536 48615536 single base substitution T A downstream_gene_variant LICA-CN 17 48615536 48615536 single base substitution T A exon_variant LICA-CN 17 48615536 48615536 single base substitution T A missense_variant M164K 491T>A LICA-CN 17 48615536 48615536 single base substitution T A missense_variant M220K 659T>A LICA-CN 17 48615536 48615536 single base substitution T A missense_variant M275K 824T>A LICA-CN 17 48618253 48618253 single base substitution C T 3_prime_UTR_variant LICA-CN 17 48618253 48618253 single base substitution C T downstream_gene_variant LICA-CN 17 48618253 48618253 single base substitution C T missense_variant P248S 742C>T LICA-CN 17 48618253 48618253 single base substitution C T missense_variant P360L 1079C>T LICA-CN 17 48618253 48618253 single base substitution C T missense_variant P388L 1163C>T LICA-FR 17 48606493 48606493 single base substitution C A upstream_gene_variant LICA-FR 17 48619355 48619355 single base substitution T C 3_prime_UTR_variant LICA-FR 17 48619355 48619355 single base substitution T C downstream_gene_variant LICA-FR 17 48619355 48619355 single base substitution T C missense_variant L579P 1736T>C LICA-FR 17 48619355 48619355 single base substitution T C missense_variant L607P 1820T>C LICA-FR 17 48625938 48625939 deletion of <=200bp TC - downstream_gene_variant LIHC-US 17 48614425 48614425 single base substitution C T 3_prime_UTR_variant LIHC-US 17 48614425 48614425 single base substitution C T downstream_gene_variant LIHC-US 17 48614425 48614425 single base substitution C T exon_variant LIHC-US 17 48614425 48614425 single base substitution C T missense_variant R114C 340C>T LIHC-US 17 48614425 48614425 single base substitution C T missense_variant R170C 508C>T LIHC-US 17 48614425 48614425 single base substitution C T missense_variant R225C 673C>T LIHC-US 17 48617654 48617654 single base substitution C T 3_prime_UTR_variant LIHC-US 17 48617654 48617654 single base substitution C T downstream_gene_variant LIHC-US 17 48617654 48617654 single base substitution C T intron_variant LIHC-US 17 48617654 48617654 single base substitution C T missense_variant P313L 938C>T LIHC-US 17 48617654 48617654 single base substitution C T missense_variant P341L 1022C>T LIHC-US 17 48625120 48625120 single base substitution T C downstream_gene_variant LINC-JP 17 48604928 48604928 single base substitution G A upstream_gene_variant LINC-JP 17 48606162 48606162 single base substitution C A upstream_gene_variant LINC-JP 17 48611488 48611488 single base substitution C T intron_variant LINC-JP 17 48611488 48611488 single base substitution C T upstream_gene_variant LINC-JP 17 48616606 48616606 single base substitution T A 3_prime_UTR_variant LINC-JP 17 48616606 48616606 single base substitution T A downstream_gene_variant LINC-JP 17 48616606 48616606 single base substitution T A exon_variant LINC-JP 17 48616606 48616606 single base substitution T A missense_variant V191D 572T>A LINC-JP 17 48616606 48616606 single base substitution T A missense_variant V274D 821T>A LINC-JP 17 48616606 48616606 single base substitution T A missense_variant V302D 905T>A LINC-JP 17 48617356 48617356 single base substitution G T downstream_gene_variant LINC-JP 17 48617356 48617356 single base substitution G T intron_variant LINC-JP 17 48617498 48617498 single base substitution T A downstream_gene_variant LINC-JP 17 48617498 48617498 single base substitution T A intron_variant LIRI-JP 17 48606841 48606841 single base substitution G A upstream_gene_variant LIRI-JP 17 48609449 48609449 single base substitution A T upstream_gene_variant LIRI-JP 17 48612294 48612294 single base substitution C A intron_variant LIRI-JP 17 48612294 48612294 single base substitution C A upstream_gene_variant LIRI-JP 17 48615648 48615648 single base substitution T C downstream_gene_variant LIRI-JP 17 48615648 48615648 single base substitution T C intron_variant LIRI-JP 17 48616007 48616007 single base substitution C G downstream_gene_variant LIRI-JP 17 48616007 48616007 single base substitution C G intron_variant LIRI-JP 17 48622387 48622387 single base substitution T C downstream_gene_variant LIRI-JP 17 48625283 48625283 single base substitution C A downstream_gene_variant LUSC-KR 17 48612841 48612841 single base substitution G A intron_variant LUSC-KR 17 48612841 48612841 single base substitution G A upstream_gene_variant LUSC-US 17 48616632 48616632 single base substitution G C 3_prime_UTR_variant LUSC-US 17 48616632 48616632 single base substitution G C downstream_gene_variant LUSC-US 17 48616632 48616632 single base substitution G C exon_variant LUSC-US 17 48616632 48616632 single base substitution G C missense_variant E200Q 598G>C LUSC-US 17 48616632 48616632 single base substitution G C missense_variant E283Q 847G>C LUSC-US 17 48616632 48616632 single base substitution G C missense_variant E311Q 931G>C MALY-DE 17 48606363 48606363 single base substitution C T upstream_gene_variant MALY-DE 17 48606383 48606383 single base substitution G A upstream_gene_variant MALY-DE 17 48607996 48607996 deletion of <=200bp A - upstream_gene_variant MALY-DE 17 48611488 48611488 single base substitution C T intron_variant MALY-DE 17 48611488 48611488 single base substitution C T upstream_gene_variant MALY-DE 17 48613391 48613391 single base substitution G T exon_variant MALY-DE 17 48613391 48613391 single base substitution G T intron_variant MALY-DE 17 48613391 48613391 single base substitution G T splice_region_variant MALY-DE 17 48613391 48613391 single base substitution G T upstream_gene_variant MALY-DE 17 48618456 48618456 single base substitution G A downstream_gene_variant MALY-DE 17 48618456 48618456 single base substitution G A intron_variant MELA-AU 17 48604988 48604988 single base substitution C T upstream_gene_variant MELA-AU 17 48605264 48605265 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 48605561 48605561 single base substitution C T upstream_gene_variant MELA-AU 17 48605575 48605575 single base substitution C T upstream_gene_variant MELA-AU 17 48605837 48605837 single base substitution C T upstream_gene_variant MELA-AU 17 48606042 48606042 single base substitution C T upstream_gene_variant MELA-AU 17 48606153 48606153 single base substitution G A upstream_gene_variant MELA-AU 17 48606249 48606249 single base substitution G A upstream_gene_variant MELA-AU 17 48606488 48606488 single base substitution C T upstream_gene_variant MELA-AU 17 48606496 48606496 single base substitution G A upstream_gene_variant MELA-AU 17 48606585 48606585 single base substitution C T upstream_gene_variant MELA-AU 17 48607076 48607076 single base substitution C T upstream_gene_variant MELA-AU 17 48607223 48607223 single base substitution C T upstream_gene_variant MELA-AU 17 48607263 48607263 single base substitution T A upstream_gene_variant MELA-AU 17 48607439 48607439 single base substitution C T upstream_gene_variant MELA-AU 17 48607503 48607503 single base substitution G A upstream_gene_variant MELA-AU 17 48607604 48607604 single base substitution C T upstream_gene_variant MELA-AU 17 48607976 48607976 single base substitution G A upstream_gene_variant MELA-AU 17 48608406 48608406 single base substitution G A upstream_gene_variant MELA-AU 17 48608440 48608440 single base substitution G A upstream_gene_variant MELA-AU 17 48608502 48608502 single base substitution G A upstream_gene_variant MELA-AU 17 48608795 48608795 single base substitution G A upstream_gene_variant MELA-AU 17 48608927 48608927 single base substitution C T upstream_gene_variant MELA-AU 17 48609012 48609012 single base substitution G A upstream_gene_variant MELA-AU 17 48609223 48609223 single base substitution C T upstream_gene_variant MELA-AU 17 48609576 48609576 single base substitution G A upstream_gene_variant MELA-AU 17 48609827 48609827 single base substitution G A upstream_gene_variant MELA-AU 17 48610176 48610176 single base substitution C T 5_prime_UTR_variant MELA-AU 17 48610176 48610176 single base substitution C T exon_variant MELA-AU 17 48610176 48610176 single base substitution C T upstream_gene_variant MELA-AU 17 48610419 48610419 single base substitution G A intron_variant MELA-AU 17 48610419 48610419 single base substitution G A upstream_gene_variant MELA-AU 17 48610491 48610491 single base substitution C T intron_variant MELA-AU 17 48610491 48610491 single base substitution C T upstream_gene_variant MELA-AU 17 48610761 48610761 single base substitution T G intron_variant MELA-AU 17 48610761 48610761 single base substitution T G upstream_gene_variant MELA-AU 17 48610856 48610856 single base substitution G A intron_variant MELA-AU 17 48610856 48610856 single base substitution G A upstream_gene_variant MELA-AU 17 48610983 48610983 single base substitution T A intron_variant MELA-AU 17 48610983 48610983 single base substitution T A upstream_gene_variant MELA-AU 17 48611161 48611161 single base substitution C T intron_variant MELA-AU 17 48611161 48611161 single base substitution C T upstream_gene_variant MELA-AU 17 48611488 48611488 single base substitution C T intron_variant MELA-AU 17 48611488 48611488 single base substitution C T upstream_gene_variant MELA-AU 17 48611527 48611527 single base substitution T C intron_variant MELA-AU 17 48611527 48611527 single base substitution T C upstream_gene_variant MELA-AU 17 48611560 48611561 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 48611560 48611561 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 48611737 48611737 single base substitution G A intron_variant MELA-AU 17 48611737 48611737 single base substitution G A upstream_gene_variant MELA-AU 17 48611832 48611832 single base substitution G A intron_variant MELA-AU 17 48611832 48611832 single base substitution G A upstream_gene_variant MELA-AU 17 48611882 48611882 single base substitution C T 5_prime_UTR_variant MELA-AU 17 48611882 48611882 single base substitution C T intron_variant MELA-AU 17 48611882 48611882 single base substitution C T upstream_gene_variant MELA-AU 17 48612235 48612235 single base substitution G A intron_variant MELA-AU 17 48612235 48612235 single base substitution G A upstream_gene_variant MELA-AU 17 48612241 48612241 single base substitution G A intron_variant MELA-AU 17 48612241 48612241 single base substitution G A upstream_gene_variant MELA-AU 17 48612369 48612369 single base substitution G A intron_variant MELA-AU 17 48612369 48612369 single base substitution G A upstream_gene_variant MELA-AU 17 48612370 48612370 single base substitution G A intron_variant MELA-AU 17 48612370 48612370 single base substitution G A upstream_gene_variant MELA-AU 17 48612808 48612808 single base substitution G A intron_variant MELA-AU 17 48612808 48612808 single base substitution G A upstream_gene_variant MELA-AU 17 48612973 48612973 single base substitution G A intron_variant MELA-AU 17 48612973 48612973 single base substitution G A upstream_gene_variant MELA-AU 17 48612995 48612995 single base substitution G A intron_variant MELA-AU 17 48612995 48612995 single base substitution G A upstream_gene_variant MELA-AU 17 48613109 48613109 single base substitution G A intron_variant MELA-AU 17 48613109 48613109 single base substitution G A upstream_gene_variant MELA-AU 17 48613440 48613440 single base substitution A G 5_prime_UTR_variant MELA-AU 17 48613440 48613440 single base substitution A G exon_variant MELA-AU 17 48613440 48613440 single base substitution A G intron_variant MELA-AU 17 48613440 48613440 single base substitution A G upstream_gene_variant MELA-AU 17 48613646 48613646 single base substitution G A exon_variant MELA-AU 17 48613646 48613646 single base substitution G A intron_variant MELA-AU 17 48613646 48613646 single base substitution G A splice_region_variant MELA-AU 17 48613646 48613646 single base substitution G A upstream_gene_variant MELA-AU 17 48613762 48613762 single base substitution C T downstream_gene_variant MELA-AU 17 48613762 48613762 single base substitution C T intron_variant MELA-AU 17 48613762 48613762 single base substitution C T upstream_gene_variant MELA-AU 17 48613923 48613923 single base substitution G A 5_prime_UTR_variant MELA-AU 17 48613923 48613923 single base substitution G A downstream_gene_variant MELA-AU 17 48613923 48613923 single base substitution G A exon_variant MELA-AU 17 48613923 48613923 single base substitution G A intron_variant MELA-AU 17 48613923 48613923 single base substitution G A missense_variant D85N 253G>A MELA-AU 17 48613923 48613923 single base substitution G A synonymous_variant T2T 6G>A MELA-AU 17 48614030 48614030 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 48614030 48614030 single base substitution C T downstream_gene_variant MELA-AU 17 48614030 48614030 single base substitution C T exon_variant MELA-AU 17 48614030 48614030 single base substitution C T intron_variant MELA-AU 17 48614030 48614030 single base substitution C T missense_variant S38L 113C>T MELA-AU 17 48614348 48614348 single base substitution G A 3_prime_UTR_variant MELA-AU 17 48614348 48614348 single base substitution G A downstream_gene_variant MELA-AU 17 48614348 48614348 single base substitution G A exon_variant MELA-AU 17 48614348 48614348 single base substitution G A missense_variant R144Q 431G>A MELA-AU 17 48614348 48614348 single base substitution G A missense_variant R199Q 596G>A MELA-AU 17 48614348 48614348 single base substitution G A missense_variant R88Q 263G>A MELA-AU 17 48615002 48615002 single base substitution G A downstream_gene_variant MELA-AU 17 48615002 48615002 single base substitution G A intron_variant MELA-AU 17 48615096 48615096 single base substitution C T downstream_gene_variant MELA-AU 17 48615096 48615096 single base substitution C T intron_variant MELA-AU 17 48615870 48615870 single base substitution G A downstream_gene_variant MELA-AU 17 48615870 48615870 single base substitution G A intron_variant MELA-AU 17 48616050 48616050 single base substitution C T downstream_gene_variant MELA-AU 17 48616050 48616050 single base substitution C T intron_variant MELA-AU 17 48616600 48616600 single base substitution C T 3_prime_UTR_variant MELA-AU 17 48616600 48616600 single base substitution C T downstream_gene_variant MELA-AU 17 48616600 48616600 single base substitution C T exon_variant MELA-AU 17 48616600 48616600 single base substitution C T missense_variant A189V 566C>T MELA-AU 17 48616600 48616600 single base substitution C T missense_variant A272V 815C>T MELA-AU 17 48616600 48616600 single base substitution C T missense_variant A300V 899C>T MELA-AU 17 48616692 48616692 single base substitution C T downstream_gene_variant MELA-AU 17 48616692 48616692 single base substitution C T intron_variant MELA-AU 17 48616896 48616896 single base substitution C T downstream_gene_variant MELA-AU 17 48616896 48616896 single base substitution C T intron_variant MELA-AU 17 48617058 48617058 single base substitution C A downstream_gene_variant MELA-AU 17 48617058 48617058 single base substitution C A intron_variant MELA-AU 17 48617152 48617152 single base substitution C T downstream_gene_variant MELA-AU 17 48617152 48617152 single base substitution C T intron_variant MELA-AU 17 48617244 48617244 single base substitution G A downstream_gene_variant MELA-AU 17 48617244 48617244 single base substitution G A intron_variant MELA-AU 17 48617880 48617880 single base substitution G A downstream_gene_variant MELA-AU 17 48617880 48617880 single base substitution G A intron_variant MELA-AU 17 48618144 48618144 single base substitution C T downstream_gene_variant MELA-AU 17 48618144 48618144 single base substitution C T intron_variant MELA-AU 17 48618192 48618192 single base substitution G A 3_prime_UTR_variant MELA-AU 17 48618192 48618192 single base substitution G A downstream_gene_variant MELA-AU 17 48618192 48618192 single base substitution G A missense_variant G340R 1018G>A MELA-AU 17 48618192 48618192 single base substitution G A missense_variant G368R 1102G>A MELA-AU 17 48618192 48618192 single base substitution G A synonymous_variant G227G 681G>A MELA-AU 17 48618893 48618893 single base substitution G A 3_prime_UTR_variant MELA-AU 17 48618893 48618893 single base substitution G A downstream_gene_variant MELA-AU 17 48618893 48618893 single base substitution G A missense_variant D475N 1423G>A MELA-AU 17 48618893 48618893 single base substitution G A missense_variant D503N 1507G>A MELA-AU 17 48619416 48619416 single base substitution C G 3_prime_UTR_variant MELA-AU 17 48619416 48619416 single base substitution C G downstream_gene_variant MELA-AU 17 48619416 48619416 single base substitution C G missense_variant F599L 1797C>G MELA-AU 17 48619416 48619416 single base substitution C G missense_variant F627L 1881C>G MELA-AU 17 48619532 48619532 single base substitution C T 3_prime_UTR_variant MELA-AU 17 48619532 48619532 single base substitution C T downstream_gene_variant MELA-AU 17 48619563 48619563 single base substitution C T 3_prime_UTR_variant MELA-AU 17 48619563 48619563 single base substitution C T downstream_gene_variant MELA-AU 17 48619566 48619566 single base substitution G A 3_prime_UTR_variant MELA-AU 17 48619566 48619566 single base substitution G A downstream_gene_variant MELA-AU 17 48620286 48620286 single base substitution G A 3_prime_UTR_variant MELA-AU 17 48620286 48620286 single base substitution G A downstream_gene_variant MELA-AU 17 48620674 48620674 single base substitution G A 3_prime_UTR_variant MELA-AU 17 48620674 48620674 single base substitution G A downstream_gene_variant MELA-AU 17 48620706 48620706 single base substitution G A 3_prime_UTR_variant MELA-AU 17 48620706 48620706 single base substitution G A downstream_gene_variant MELA-AU 17 48620734 48620734 single base substitution G A 3_prime_UTR_variant MELA-AU 17 48620734 48620734 single base substitution G A downstream_gene_variant MELA-AU 17 48620863 48620863 single base substitution C T 3_prime_UTR_variant MELA-AU 17 48620863 48620863 single base substitution C T downstream_gene_variant MELA-AU 17 48621027 48621027 single base substitution T A 3_prime_UTR_variant MELA-AU 17 48621027 48621027 single base substitution T A downstream_gene_variant MELA-AU 17 48621160 48621161 multiple base substitution (>=2bp and <=200bp) CT AG downstream_gene_variant MELA-AU 17 48621414 48621414 single base substitution C T downstream_gene_variant MELA-AU 17 48621433 48621433 single base substitution G A downstream_gene_variant MELA-AU 17 48621496 48621496 single base substitution G A downstream_gene_variant MELA-AU 17 48621638 48621638 single base substitution C T downstream_gene_variant MELA-AU 17 48621660 48621660 single base substitution C T downstream_gene_variant MELA-AU 17 48621895 48621895 single base substitution G A downstream_gene_variant MELA-AU 17 48621932 48621932 single base substitution G A downstream_gene_variant MELA-AU 17 48622087 48622087 single base substitution G A downstream_gene_variant MELA-AU 17 48622181 48622181 single base substitution T C downstream_gene_variant MELA-AU 17 48622328 48622328 single base substitution G A downstream_gene_variant MELA-AU 17 48622471 48622471 single base substitution T C downstream_gene_variant MELA-AU 17 48622635 48622635 single base substitution G A downstream_gene_variant MELA-AU 17 48622908 48622908 single base substitution C T downstream_gene_variant MELA-AU 17 48623132 48623132 single base substitution C T downstream_gene_variant MELA-AU 17 48623175 48623175 single base substitution C T downstream_gene_variant MELA-AU 17 48623260 48623260 single base substitution G C downstream_gene_variant MELA-AU 17 48623322 48623322 single base substitution G A downstream_gene_variant MELA-AU 17 48623413 48623413 single base substitution G A downstream_gene_variant MELA-AU 17 48623424 48623424 single base substitution C T downstream_gene_variant MELA-AU 17 48623425 48623425 single base substitution C T downstream_gene_variant MELA-AU 17 48623482 48623482 single base substitution C T downstream_gene_variant MELA-AU 17 48623653 48623653 single base substitution C T downstream_gene_variant MELA-AU 17 48623743 48623743 single base substitution C T downstream_gene_variant MELA-AU 17 48623763 48623763 single base substitution C T downstream_gene_variant MELA-AU 17 48624059 48624059 single base substitution A G downstream_gene_variant MELA-AU 17 48624241 48624241 single base substitution T C downstream_gene_variant MELA-AU 17 48624413 48624413 single base substitution C T downstream_gene_variant MELA-AU 17 48624552 48624552 single base substitution C T downstream_gene_variant MELA-AU 17 48625505 48625505 single base substitution C T downstream_gene_variant MELA-AU 17 48625655 48625655 single base substitution C T downstream_gene_variant MELA-AU 17 48625835 48625835 single base substitution C T downstream_gene_variant ORCA-IN 17 48614339 48614339 single base substitution G T 3_prime_UTR_variant ORCA-IN 17 48614339 48614339 single base substitution G T downstream_gene_variant ORCA-IN 17 48614339 48614339 single base substitution G T exon_variant ORCA-IN 17 48614339 48614339 single base substitution G T missense_variant R141L 422G>T ORCA-IN 17 48614339 48614339 single base substitution G T missense_variant R196L 587G>T ORCA-IN 17 48614339 48614339 single base substitution G T missense_variant R85L 254G>T ORCA-IN 17 48615485 48615485 single base substitution G A 3_prime_UTR_variant ORCA-IN 17 48615485 48615485 single base substitution G A downstream_gene_variant ORCA-IN 17 48615485 48615485 single base substitution G A exon_variant ORCA-IN 17 48615485 48615485 single base substitution G A missense_variant R147Q 440G>A ORCA-IN 17 48615485 48615485 single base substitution G A missense_variant R203Q 608G>A ORCA-IN 17 48615485 48615485 single base substitution G A missense_variant R258Q 773G>A OV-AU 17 48605282 48605282 single base substitution C A upstream_gene_variant OV-AU 17 48610170 48610170 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant OV-AU 17 48610170 48610170 single base substitution C T exon_variant OV-AU 17 48610170 48610170 single base substitution C T upstream_gene_variant OV-AU 17 48619019 48619019 single base substitution C A 3_prime_UTR_variant OV-AU 17 48619019 48619019 single base substitution C A downstream_gene_variant OV-AU 17 48619019 48619019 single base substitution C A missense_variant P517T 1549C>A OV-AU 17 48619019 48619019 single base substitution C A missense_variant P545T 1633C>A OV-AU 17 48620027 48620027 single base substitution C T 3_prime_UTR_variant OV-AU 17 48620027 48620027 single base substitution C T downstream_gene_variant OV-AU 17 48621926 48621926 single base substitution C G downstream_gene_variant PACA-AU 17 48612623 48612623 single base substitution A G intron_variant PACA-AU 17 48612623 48612623 single base substitution A G upstream_gene_variant PACA-AU 17 48617107 48617107 single base substitution G A downstream_gene_variant PACA-AU 17 48617107 48617107 single base substitution G A intron_variant PACA-AU 17 48621701 48621701 single base substitution G C downstream_gene_variant PACA-CA 17 48610131 48610131 single base substitution A C 5_prime_UTR_variant PACA-CA 17 48610131 48610131 single base substitution A C exon_variant PACA-CA 17 48610131 48610131 single base substitution A C upstream_gene_variant PACA-CA 17 48610924 48610924 single base substitution C T intron_variant PACA-CA 17 48610924 48610924 single base substitution C T upstream_gene_variant PACA-CA 17 48611330 48611330 single base substitution C G intron_variant PACA-CA 17 48611330 48611330 single base substitution C G upstream_gene_variant PACA-CA 17 48611786 48611786 single base substitution G A intron_variant PACA-CA 17 48611786 48611786 single base substitution G A upstream_gene_variant PACA-CA 17 48616210 48616210 single base substitution T C downstream_gene_variant PACA-CA 17 48616210 48616210 single base substitution T C intron_variant PACA-CA 17 48616369 48616369 single base substitution C G downstream_gene_variant PACA-CA 17 48616369 48616369 single base substitution C G intron_variant PACA-CA 17 48618226 48618226 single base substitution C T 3_prime_UTR_variant PACA-CA 17 48618226 48618226 single base substitution C T downstream_gene_variant PACA-CA 17 48618226 48618226 single base substitution C T missense_variant S351L 1052C>T PACA-CA 17 48618226 48618226 single base substitution C T missense_variant S379L 1136C>T PACA-CA 17 48618226 48618226 single base substitution C T stop_gained Q239* 715C>T PACA-CA 17 48620846 48620846 insertion of <=200bp - AG 3_prime_UTR_variant PACA-CA 17 48620846 48620846 insertion of <=200bp - AG downstream_gene_variant PACA-CA 17 48625486 48625486 single base substitution A G downstream_gene_variant PAEN-IT 17 48606108 48606108 single base substitution G A upstream_gene_variant PBCA-DE 17 48607529 48607529 single base substitution C T upstream_gene_variant PBCA-DE 17 48614426 48614426 single base substitution G A 3_prime_UTR_variant PBCA-DE 17 48614426 48614426 single base substitution G A downstream_gene_variant PBCA-DE 17 48614426 48614426 single base substitution G A exon_variant PBCA-DE 17 48614426 48614426 single base substitution G A missense_variant R114H 341G>A PBCA-DE 17 48614426 48614426 single base substitution G A missense_variant R170H 509G>A PBCA-DE 17 48614426 48614426 single base substitution G A missense_variant R225H 674G>A PBCA-DE 17 48625747 48625747 single base substitution G A downstream_gene_variant PBCA-DE 17 48625970 48625970 single base substitution T G downstream_gene_variant PRAD-UK 17 48619961 48619961 single base substitution G C 3_prime_UTR_variant PRAD-UK 17 48619961 48619961 single base substitution G C downstream_gene_variant PRAD-UK 17 48620479 48620479 single base substitution T A 3_prime_UTR_variant PRAD-UK 17 48620479 48620479 single base substitution T A downstream_gene_variant PRAD-UK 17 48620482 48620482 single base substitution A C 3_prime_UTR_variant PRAD-UK 17 48620482 48620482 single base substitution A C downstream_gene_variant PRAD-UK 17 48620968 48620968 single base substitution T A 3_prime_UTR_variant PRAD-UK 17 48620968 48620968 single base substitution T A downstream_gene_variant PRAD-UK 17 48624384 48624384 single base substitution C T downstream_gene_variant PRAD-US 17 48614289 48614289 single base substitution C T 3_prime_UTR_variant PRAD-US 17 48614289 48614289 single base substitution C T downstream_gene_variant PRAD-US 17 48614289 48614289 single base substitution C T exon_variant PRAD-US 17 48614289 48614289 single base substitution C T synonymous_variant R124R 372C>T PRAD-US 17 48614289 48614289 single base substitution C T synonymous_variant R179R 537C>T PRAD-US 17 48614289 48614289 single base substitution C T synonymous_variant R68R 204C>T READ-US 17 48606118 48606118 single base substitution C T upstream_gene_variant READ-US 17 48614238 48614238 single base substitution G A 3_prime_UTR_variant READ-US 17 48614238 48614238 single base substitution G A downstream_gene_variant READ-US 17 48614238 48614238 single base substitution G A exon_variant READ-US 17 48614238 48614238 single base substitution G A synonymous_variant K107K 321G>A READ-US 17 48614238 48614238 single base substitution G A synonymous_variant K162K 486G>A READ-US 17 48614238 48614238 single base substitution G A synonymous_variant K51K 153G>A READ-US 17 48619290 48619290 single base substitution G A 3_prime_UTR_variant READ-US 17 48619290 48619290 single base substitution G A downstream_gene_variant READ-US 17 48619290 48619290 single base substitution G A synonymous_variant P557P 1671G>A READ-US 17 48619290 48619290 single base substitution G A synonymous_variant P585P 1755G>A RECA-EU 17 48604962 48604962 single base substitution C G upstream_gene_variant RECA-EU 17 48621557 48621557 single base substitution C G downstream_gene_variant SKCA-BR 17 48605397 48605397 single base substitution T G upstream_gene_variant SKCA-BR 17 48606483 48606483 single base substitution C T upstream_gene_variant SKCA-BR 17 48608255 48608255 single base substitution C T upstream_gene_variant SKCA-BR 17 48608951 48608951 single base substitution C T upstream_gene_variant SKCA-BR 17 48609142 48609142 single base substitution G A upstream_gene_variant SKCA-BR 17 48609273 48609273 single base substitution C T upstream_gene_variant SKCA-BR 17 48609664 48609664 single base substitution G A upstream_gene_variant SKCA-BR 17 48611262 48611262 single base substitution A C intron_variant SKCA-BR 17 48611262 48611262 single base substitution A C upstream_gene_variant SKCA-BR 17 48611424 48611463 deletion of <=200bp CCTTCCTTTCCTCCTCCCTTCTCTGCGCTTGGGCAGGCTT - intron_variant SKCA-BR 17 48611424 48611463 deletion of <=200bp CCTTCCTTTCCTCCTCCCTTCTCTGCGCTTGGGCAGGCTT - upstream_gene_variant SKCA-BR 17 48611488 48611488 single base substitution C T intron_variant SKCA-BR 17 48611488 48611488 single base substitution C T upstream_gene_variant SKCA-BR 17 48612158 48612158 single base substitution T G intron_variant SKCA-BR 17 48612158 48612158 single base substitution T G upstream_gene_variant SKCA-BR 17 48612370 48612370 single base substitution G A intron_variant SKCA-BR 17 48612370 48612370 single base substitution G A upstream_gene_variant SKCA-BR 17 48614290 48614290 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 48614290 48614290 single base substitution G A downstream_gene_variant SKCA-BR 17 48614290 48614290 single base substitution G A exon_variant SKCA-BR 17 48614290 48614290 single base substitution G A missense_variant E125K 373G>A SKCA-BR 17 48614290 48614290 single base substitution G A missense_variant E180K 538G>A SKCA-BR 17 48614290 48614290 single base substitution G A missense_variant E69K 205G>A SKCA-BR 17 48615593 48615593 single base substitution G A downstream_gene_variant SKCA-BR 17 48615593 48615593 single base substitution G A intron_variant SKCA-BR 17 48618582 48618582 single base substitution C T downstream_gene_variant SKCA-BR 17 48618582 48618582 single base substitution C T splice_region_variant SKCA-BR 17 48619390 48619390 single base substitution A C 3_prime_UTR_variant SKCA-BR 17 48619390 48619390 single base substitution A C downstream_gene_variant SKCA-BR 17 48619390 48619390 single base substitution A C missense_variant T591P 1771A>C SKCA-BR 17 48619390 48619390 single base substitution A C missense_variant T619P 1855A>C SKCA-BR 17 48619394 48619394 single base substitution T C 3_prime_UTR_variant SKCA-BR 17 48619394 48619394 single base substitution T C downstream_gene_variant SKCA-BR 17 48619394 48619394 single base substitution T C missense_variant L592P 1775T>C SKCA-BR 17 48619394 48619394 single base substitution T C missense_variant L620P 1859T>C SKCA-BR 17 48621807 48621807 single base substitution A C downstream_gene_variant SKCA-BR 17 48621823 48621823 single base substitution A C downstream_gene_variant SKCA-BR 17 48621835 48621835 single base substitution A C downstream_gene_variant SKCA-BR 17 48622766 48622766 single base substitution G A downstream_gene_variant SKCA-BR 17 48625863 48625863 single base substitution C T downstream_gene_variant SKCA-BR 17 48626092 48626092 single base substitution C T downstream_gene_variant SKCM-US 17 48605530 48605530 single base substitution G A upstream_gene_variant SKCM-US 17 48605597 48605597 single base substitution G A upstream_gene_variant SKCM-US 17 48606153 48606153 single base substitution G A upstream_gene_variant SKCM-US 17 48606463 48606463 single base substitution G A upstream_gene_variant SKCM-US 17 48606480 48606480 single base substitution C T upstream_gene_variant SKCM-US 17 48606530 48606530 single base substitution C T upstream_gene_variant SKCM-US 17 48606545 48606545 single base substitution G A upstream_gene_variant SKCM-US 17 48608750 48608750 single base substitution C T upstream_gene_variant SKCM-US 17 48613881 48613881 single base substitution G A 5_prime_UTR_variant SKCM-US 17 48613881 48613881 single base substitution G A downstream_gene_variant SKCM-US 17 48613881 48613881 single base substitution G A exon_variant SKCM-US 17 48613881 48613881 single base substitution G A intron_variant SKCM-US 17 48613881 48613881 single base substitution G A missense_variant A71T 211G>A SKCM-US 17 48613885 48613885 single base substitution G A 5_prime_UTR_variant SKCM-US 17 48613885 48613885 single base substitution G A downstream_gene_variant SKCM-US 17 48613885 48613885 single base substitution G A exon_variant SKCM-US 17 48613885 48613885 single base substitution G A intron_variant SKCM-US 17 48613885 48613885 single base substitution G A missense_variant G72E 215G>A SKCM-US 17 48614080 48614080 single base substitution G A 5_prime_UTR_variant SKCM-US 17 48614080 48614080 single base substitution G A downstream_gene_variant SKCM-US 17 48614080 48614080 single base substitution G A exon_variant SKCM-US 17 48614080 48614080 single base substitution G A missense_variant E110K 328G>A SKCM-US 17 48614080 48614080 single base substitution G A missense_variant E16K 46G>A SKCM-US 17 48614080 48614080 single base substitution G A missense_variant E55K 163G>A SKCM-US 17 48614177 48614177 single base substitution C T 3_prime_UTR_variant SKCM-US 17 48614177 48614177 single base substitution C T downstream_gene_variant SKCM-US 17 48614177 48614177 single base substitution C T exon_variant SKCM-US 17 48614177 48614177 single base substitution C T missense_variant T142M 425C>T SKCM-US 17 48614177 48614177 single base substitution C T missense_variant T31M 92C>T SKCM-US 17 48614177 48614177 single base substitution C T missense_variant T87M 260C>T SKCM-US 17 48614370 48614370 single base substitution G A 3_prime_UTR_variant SKCM-US 17 48614370 48614370 single base substitution G A downstream_gene_variant SKCM-US 17 48614370 48614370 single base substitution G A exon_variant SKCM-US 17 48614370 48614370 single base substitution G A synonymous_variant K151K 453G>A SKCM-US 17 48614370 48614370 single base substitution G A synonymous_variant K206K 618G>A SKCM-US 17 48614370 48614370 single base substitution G A synonymous_variant K95K 285G>A SKCM-US 17 48614448 48614448 single base substitution C T 3_prime_UTR_variant SKCM-US 17 48614448 48614448 single base substitution C T downstream_gene_variant SKCM-US 17 48614448 48614448 single base substitution C T exon_variant SKCM-US 17 48614448 48614448 single base substitution C T synonymous_variant S121S 363C>T SKCM-US 17 48614448 48614448 single base substitution C T synonymous_variant S177S 531C>T SKCM-US 17 48614448 48614448 single base substitution C T synonymous_variant S232S 696C>T SKCM-US 17 48617661 48617661 single base substitution C T 3_prime_UTR_variant SKCM-US 17 48617661 48617661 single base substitution C T downstream_gene_variant SKCM-US 17 48617661 48617661 single base substitution C T intron_variant SKCM-US 17 48617661 48617661 single base substitution C T synonymous_variant S315S 945C>T SKCM-US 17 48617661 48617661 single base substitution C T synonymous_variant S343S 1029C>T SKCM-US 17 48625655 48625655 single base substitution C T downstream_gene_variant SKCM-US 17 48625796 48625796 single base substitution C T downstream_gene_variant STAD-US 17 48613990 48613990 single base substitution C T 5_prime_UTR_variant STAD-US 17 48613990 48613990 single base substitution C T downstream_gene_variant STAD-US 17 48613990 48613990 single base substitution C T exon_variant STAD-US 17 48613990 48613990 single base substitution C T missense_variant R25C 73C>T STAD-US 17 48613990 48613990 single base substitution C T splice_region_variant STAD-US 17 48614290 48614290 single base substitution G A 3_prime_UTR_variant STAD-US 17 48614290 48614290 single base substitution G A downstream_gene_variant STAD-US 17 48614290 48614290 single base substitution G A exon_variant STAD-US 17 48614290 48614290 single base substitution G A missense_variant E125K 373G>A STAD-US 17 48614290 48614290 single base substitution G A missense_variant E180K 538G>A STAD-US 17 48614290 48614290 single base substitution G A missense_variant E69K 205G>A STAD-US 17 48614339 48614339 single base substitution G A 3_prime_UTR_variant STAD-US 17 48614339 48614339 single base substitution G A downstream_gene_variant STAD-US 17 48614339 48614339 single base substitution G A exon_variant STAD-US 17 48614339 48614339 single base substitution G A missense_variant R141Q 422G>A STAD-US 17 48614339 48614339 single base substitution G A missense_variant R196Q 587G>A STAD-US 17 48614339 48614339 single base substitution G A missense_variant R85Q 254G>A STAD-US 17 48618282 48618282 single base substitution T G 3_prime_UTR_variant STAD-US 17 48618282 48618282 single base substitution T G downstream_gene_variant STAD-US 17 48618282 48618282 single base substitution T G missense_variant S370A 1108T>G STAD-US 17 48618282 48618282 single base substitution T G missense_variant S398A 1192T>G STAD-US 17 48618642 48618642 single base substitution C A 3_prime_UTR_variant STAD-US 17 48618642 48618642 single base substitution C A downstream_gene_variant STAD-US 17 48618642 48618642 single base substitution C A synonymous_variant T434T 1302C>A STAD-US 17 48618642 48618642 single base substitution C A synonymous_variant T462T 1386C>A STAD-US 17 48619031 48619031 single base substitution A G 3_prime_UTR_variant STAD-US 17 48619031 48619031 single base substitution A G downstream_gene_variant STAD-US 17 48619031 48619031 single base substitution A G missense_variant K521E 1561A>G STAD-US 17 48619031 48619031 single base substitution A G missense_variant K549E 1645A>G THCA-SA 17 48610267 48610267 insertion of <=200bp - T 5_prime_UTR_variant THCA-SA 17 48610267 48610267 insertion of <=200bp - T exon_variant THCA-SA 17 48610267 48610267 insertion of <=200bp - T frameshift_variant R11L? THCA-SA 17 48610267 48610267 insertion of <=200bp - T intron_variant THCA-SA 17 48610267 48610267 insertion of <=200bp - T upstream_gene_variant THCA-SA 17 48616658 48616658 single base substitution G A 3_prime_UTR_variant THCA-SA 17 48616658 48616658 single base substitution G A downstream_gene_variant THCA-SA 17 48616658 48616658 single base substitution G A exon_variant THCA-SA 17 48616658 48616658 single base substitution G A synonymous_variant E208E 624G>A THCA-SA 17 48616658 48616658 single base substitution G A synonymous_variant E291E 873G>A THCA-SA 17 48616658 48616658 single base substitution G A synonymous_variant E319E 957G>A THCA-SA 17 48619249 48619249 single base substitution C A 3_prime_UTR_variant THCA-SA 17 48619249 48619249 single base substitution C A downstream_gene_variant THCA-SA 17 48619249 48619249 single base substitution C A missense_variant P544T 1630C>A THCA-SA 17 48619249 48619249 single base substitution C A missense_variant P572T 1714C>A UCEC-US 17 48605532 48605532 single base substitution G T upstream_gene_variant UCEC-US 17 48614334 48614334 single base substitution G A 3_prime_UTR_variant UCEC-US 17 48614334 48614334 single base substitution G A downstream_gene_variant UCEC-US 17 48614334 48614334 single base substitution G A exon_variant UCEC-US 17 48614334 48614334 single base substitution G A synonymous_variant R139R 417G>A UCEC-US 17 48614334 48614334 single base substitution G A synonymous_variant R194R 582G>A UCEC-US 17 48614334 48614334 single base substitution G A synonymous_variant R83R 249G>A UCEC-US 17 48616369 48616369 single base substitution C G downstream_gene_variant UCEC-US 17 48616369 48616369 single base substitution C G intron_variant UCEC-US 17 48616562 48616562 single base substitution G T 3_prime_UTR_variant UCEC-US 17 48616562 48616562 single base substitution G T downstream_gene_variant UCEC-US 17 48616562 48616562 single base substitution G T exon_variant UCEC-US 17 48616562 48616562 single base substitution G T missense_variant W176C 528G>T UCEC-US 17 48616562 48616562 single base substitution G T missense_variant W259C 777G>T UCEC-US 17 48616562 48616562 single base substitution G T missense_variant W287C 861G>T UCEC-US 17 48617565 48617565 single base substitution G A downstream_gene_variant UCEC-US 17 48617565 48617565 single base substitution G A intron_variant UCEC-US 17 48617565 48617565 single base substitution G A splice_region_variant UCEC-US 17 48618243 48618243 single base substitution C T 3_prime_UTR_variant UCEC-US 17 48618243 48618243 single base substitution C T downstream_gene_variant UCEC-US 17 48618243 48618243 single base substitution C T stop_gained R357* 1069C>T UCEC-US 17 48618243 48618243 single base substitution C T stop_gained R385* 1153C>T UCEC-US 17 48618243 48618243 single base substitution C T synonymous_variant P244P 732C>T UCEC-US 17 48618255 48618255 single base substitution T C 3_prime_UTR_variant UCEC-US 17 48618255 48618255 single base substitution T C downstream_gene_variant UCEC-US 17 48618255 48618255 single base substitution T C missense_variant W361R 1081T>C UCEC-US 17 48618255 48618255 single base substitution T C missense_variant W389R 1165T>C UCEC-US 17 48618255 48618255 single base substitution T C synonymous_variant P248P 744T>C UCEC-US 17 48618413 48618413 single base substitution C T 3_prime_UTR_variant UCEC-US 17 48618413 48618413 single base substitution C T downstream_gene_variant UCEC-US 17 48618413 48618413 single base substitution C T synonymous_variant S413S 1239C>T UCEC-US 17 48618413 48618413 single base substitution C T synonymous_variant S441S 1323C>T UCEC-US 17 48618600 48618600 single base substitution G A 3_prime_UTR_variant UCEC-US 17 48618600 48618600 single base substitution G A downstream_gene_variant UCEC-US 17 48618600 48618600 single base substitution G A synonymous_variant S420S 1260G>A UCEC-US 17 48618600 48618600 single base substitution G A synonymous_variant S448S 1344G>A UCEC-US 17 48618870 48618870 single base substitution G T 3_prime_UTR_variant UCEC-US 17 48618870 48618870 single base substitution G T downstream_gene_variant UCEC-US 17 48618870 48618870 single base substitution G T missense_variant G467V 1400G>T UCEC-US 17 48618870 48618870 single base substitution G T missense_variant G495V 1484G>T UCEC-US 17 48625308 48625319 deletion of <=200bp GGGGAGGGGCCT - downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AM-5820-01 COSM3755659 c.1186C>T p.H396Y Substitution - Missense 17:50540999-50540999 + TCGA-CF-A1HS-01 COSM417459 c.1238C>T p.S413F Substitution - Missense 17:50541051-50541051 + TCGA-AP-A056-01 COSM981104 c.1400G>T p.G467V Substitution - Missense 17:50541509-50541509 + HN_62832 COSM122880 c.19C>T p.R7W Substitution - Missense 17:50536575-50536575 + CHC1028T COSM4790921 c.1736T>C p.L579P Substitution - Missense 17:50541994-50541994 + TCGA-E9-A3QA-01 COSM3819951 c.829C>T p.Q277* Substitution - Nonsense 17:50539253-50539253 + TCGA-06-2563-01 COSM3402996 c.471G>A p.E157E Substitution - coding silent 17:50537027-50537027 + SC_9030 COSM189464 c.129C>T p.I43I Substitution - coding silent 17:50536685-50536685 + 587242 COSM1205541 c.1151C>A p.P384H Substitution - Missense 17:50540964-50540964 + AOCS-122-1-4 COSM3983539 c.1549C>A p.P517T Substitution - Missense 17:50541658-50541658 + SM-4AX85 COSM5035058 c.511C>T p.R171C Substitution - Missense 17:50537067-50537067 + TCGA-BG-A0VZ-01 COSM981099 c.783T>G p.G261G Substitution - coding silent 17:50539207-50539207 + T20 COSM5619045 c.708C>T p.D236D Substitution - coding silent 17:50538910-50538910 + CSCC-20-T COSM4520712 c.1070G>A p.R357Q Substitution - Missense 17:50540883-50540883 + T3021 COSM4681411 c.410A>G p.E137G Substitution - Missense 17:50536966-50536966 + C086 COSM5530578 c.1557T>G p.V519V Substitution - coding silent 17:50541666-50541666 + TCGA-EE-A2MP-06 COSM3889909 c.453G>A p.K151K Substitution - coding silent 17:50537009-50537009 + BD72T COSM5513335 c.1896C>T p.L632L Substitution - coding silent 17:50542154-50542154 + HCC2998 COSM2699469 c.655G>A p.A219T Substitution - Missense 17:50538171-50538171 + SC_9094 COSM5038550 c.1775T>C p.L592P Substitution - Missense 17:50542033-50542033 + TCGA-AA-3662-01 COSM436852 c.1630C>A p.P544T Substitution - Missense 17:50541888-50541888 + TCGA-61-1998-01 COSM79797 c.990G>A p.P330P Substitution - coding silent 17:50540803-50540803 + 2492700 COSM5715706 c.757G>A p.E253K Substitution - Missense 17:50538959-50538959 + TCGA-G4-6293-01 COSM436852 c.1630C>A p.P544T Substitution - Missense 17:50541888-50541888 + HCC120 COSM3717457 c.821T>A p.V274D Substitution - Missense 17:50539245-50539245 + TCGA-HT-8564-01 COSM2699475 c.816C>T p.A272A Substitution - coding silent 17:50539240-50539240 + C089 COSM5542891 c.712G>A p.D238N Substitution - Missense 17:50538914-50538914 + TCGA-AP-A0LM-01 COSM981098 c.777G>T p.W259C Substitution - Missense 17:50539201-50539201 + 1 COSM3734775 c.1053delA p.G352fs*12 Deletion - Frameshift 17:50540866-50540866 + YUKLAB COSM436851 c.113C>T p.S38L Substitution - Missense 17:50536669-50536669 + TCGA-BR-4184-01 COSM4067657 c.422G>A p.R141Q Substitution - Missense 17:50536978-50536978 + TCGA-HU-A4GN-01 COSM2699458 c.73C>T p.R25C Substitution - Missense 17:50536629-50536629 + TCGA-A6-6140-01 COSM3691680 c.580C>T p.R194C Substitution - Missense 17:50538096-50538096 + TP_2064 COSM5561107 c.1526A>G p.N509S Substitution - Missense 17:50541635-50541635 + ccRCC-39 COSM1661698 c.1754G>A p.S585N Substitution - Missense 17:50542012-50542012 + OSCC-GB_00330111 COSM3712372 c.608G>A p.R203Q Substitution - Missense 17:50538124-50538124 + TCGA-A2-A0T0-01 COSM436851 c.113C>T p.S38L Substitution - Missense 17:50536669-50536669 + CRC-02T COSM2699469 c.655G>A p.A219T Substitution - Missense 17:50538171-50538171 + TCGA-EX-A3L1-01 COSM2699482 c.1060G>A p.V354I Substitution - Missense 17:50540873-50540873 + CHC1028T COSM4790921 c.1736T>C p.L579P Substitution - Missense 17:50541994-50541994 + TCGA-IR-A3LK-01 COSM4817860 c.1220G>C p.G407A Substitution - Missense 17:50541033-50541033 + TCGA-ER-A199-06 COSM3519153 c.945C>T p.S315S Substitution - coding silent 17:50540300-50540300 + TCGA-BS-A0U7-01 COSM981096 c.184C>T p.R62W Substitution - Missense 17:50536740-50536740 + 587336 COSM1205542 c.397C>A p.L133M Substitution - Missense 17:50536953-50536953 + C008 COSM5522602 c.1173G>A p.L391L Substitution - coding silent 17:50540986-50540986 + CSCC-31-T COSM4546707 c.405G>A p.K135K Substitution - coding silent 17:50536961-50536961 + TCGA-CD-A487-01 COSM4067663 c.1561A>G p.K521E Substitution - Missense 17:50541670-50541670 + TCGA-D3-A1QA-06 COSM3519150 c.163G>A p.E55K Substitution - Missense 17:50536719-50536719 + TCGA-AZ-6598-01 COSM1384255 c.1376C>A p.P459H Substitution - Missense 17:50541485-50541485 + TCGA-GD-A2C5-01 COSM1303005 c.1052C>T p.S351L Substitution - Missense 17:50540865-50540865 + TCGA-EB-A553-01 COSM3519151 c.260C>T p.T87M Substitution - Missense 17:50536816-50536816 + PT23_1 COSM5903139 c.1472G>A p.R491Q Substitution - Missense 17:50541581-50541581 + C086 COSM3970141 c.833G>A p.R278Q Substitution - Missense 17:50539257-50539257 + 2492701 COSM5715706 c.757G>A p.E253K Substitution - Missense 17:50538959-50538959 + 43 COSM5734085 c.1480C>T p.R494W Substitution - Missense 17:50541589-50541589 + TCGA-66-2785-01 COSM706935 c.847G>C p.E283Q Substitution - Missense 17:50539271-50539271 + STC252 COSM5055589 c.239T>C p.L80S Substitution - Missense 17:50536795-50536795 + BD40T COSM5509214 c.1622C>T p.A541V Substitution - Missense 17:50541880-50541880 + TCGA-AY-6197-01 COSM436852 c.1630C>A p.P544T Substitution - Missense 17:50541888-50541888 + PCSI_0472_Pa_P_526 COSM1303005 c.1052C>T p.S351L Substitution - Missense 17:50540865-50540865 + TCGA-AA-3697-01 COSM436852 c.1630C>A p.P544T Substitution - Missense 17:50541888-50541888 + TCGA-CM-5863-01 COSM3749407 c.1671G>A p.P557P Substitution - coding silent 17:50541929-50541929 + TCGA-EI-6510-01 COSM1563776 c.321G>A p.K107K Substitution - coding silent 17:50536877-50536877 + TCGA-DD-A113-01 COSM4925282 c.938C>T p.P313L Substitution - Missense 17:50540293-50540293 + PD6422a COSM5772156 c.83C>T p.T28I Substitution - Missense 17:50536639-50536639 + YUPRO COSM1710472 c.1115C>T p.P372L Substitution - Missense 17:50540928-50540928 + YURISA COSM79797 c.990G>A p.P330P Substitution - coding silent 17:50540803-50540803 + TCGA-CS-6186-01 COSM3970141 c.833G>A p.R278Q Substitution - Missense 17:50539257-50539257 + TCGA-B5-A11E-01 COSM981097 c.417G>A p.R139R Substitution - coding silent 17:50536973-50536973 + TCGA-AM-5820-01 COSM215697 c.509G>A p.R170H Substitution - Missense 17:50537065-50537065 + HCC005T COSM5808907 c.1079C>T p.P360L Substitution - Missense 17:50540892-50540892 + TCGA-AP-A0LM-01 COSM981102 c.1239C>T p.S413S Substitution - coding silent 17:50541052-50541052 + OSCC-GB_00880111 COSM4888023 c.422G>T p.R141L Substitution - Missense 17:50536978-50536978 + MB_Exm516 COSM215697 c.509G>A p.R170H Substitution - Missense 17:50537065-50537065 + HCC120T COSM3717457 c.821T>A p.V274D Substitution - Missense 17:50539245-50539245 + XHDG40 COSM4770103 c.1351G>T p.V451L Substitution - Missense 17:50541330-50541330 + HCT15 COSM2699490 c.1349C>A p.P450H Substitution - Missense 17:50541328-50541328 + TCGA-D7-6526-01 COSM4067661 c.1302C>A p.T434T Substitution - coding silent 17:50541281-50541281 + TCGA-DD-A1EH-01 COSM4934205 c.508C>T p.R170C Substitution - Missense 17:50537064-50537064 + TCGA-AX-A0J0-01 COSM981101 c.1081T>C p.W361R Substitution - Missense 17:50540894-50540894 + TCGA-A8-A0A6-01 COSM3819953 c.1548A>C p.A516A Substitution - coding silent 17:50541657-50541657 + EGC8 COSM5055585 c.5C>A p.T2K Substitution - Missense 17:50536561-50536561 + 93VU147T COSM4589946 c.1147delC p.T385fs*7 Deletion - Frameshift 17:50540960-50540960 + TCGA-BT-A3PJ-01 COSM3795782 c.216G>A p.R72R Substitution - coding silent 17:50536772-50536772 + TCGA-D1-A17Q-01 COSM981103 c.1260G>A p.S420S Substitution - coding silent 17:50541239-50541239 + 53M COSM5594540 c.631G>A p.E211K Substitution - Missense 17:50538147-50538147 + TCGA-AU-6004-01 COSM436852 c.1630C>A p.P544T Substitution - Missense 17:50541888-50541888 + TCGA-G2-A3VY-01 COSM3795784 c.860G>C p.R287T Substitution - Missense 17:50539284-50539284 + Pat_41_B COSM5852893 c.1469C>T p.A490V Substitution - Missense 17:50541578-50541578 + QC2-32-T2 COSM436852 c.1630C>A p.P544T Substitution - Missense 17:50541888-50541888 + TCGA-AF-2693-01 COSM3749407 c.1671G>A p.P557P Substitution - coding silent 17:50541929-50541929 + TCGA-EI-7004-01 COSM3749407 c.1671G>A p.P557P Substitution - coding silent 17:50541929-50541929 + HN_62814 COSM122881 c.290G>A p.R97H Substitution - Missense 17:50536846-50536846 + 33T COSM3712372 c.608G>A p.R203Q Substitution - Missense 17:50538124-50538124 + TCGA-B5-A0JY-01 COSM981100 c.1069C>T p.R357* Substitution - Nonsense 17:50540882-50540882 + TCGA-DK-A1AC-01 COSM1303006 c.1404G>A p.T468T Substitution - coding silent 17:50541513-50541513 + ML_09_T_01 COSM5038550 c.1775T>C p.L592P Substitution - Missense 17:50542033-50542033 + 2492702 COSM5715706 c.757G>A p.E253K Substitution - Missense 17:50538959-50538959 + YUKSI COSM5386695 c.1482G>A p.R494R Substitution - coding silent 17:50541591-50541591 + SC_9047 COSM5562138 c.939G>A p.P313P Substitution - coding silent 17:50540294-50540294 + CSCC-37-T COSM4466724 c.144C>T p.F48F Substitution - coding silent 17:50536700-50536700 + SC_9021 COSM5568565 c.1667C>T p.S556L Substitution - Missense 17:50541925-50541925 + TCGA-AA-3662-01 COSM3749407 c.1671G>A p.P557P Substitution - coding silent 17:50541929-50541929 + HCT8 COSM2699473 c.798G>T p.M266I Substitution - Missense 17:50539222-50539222 + TCGA-CD-5801-01 COSM189465 c.373G>A p.E125K Substitution - Missense 17:50536929-50536929 + DLD1 COSM2699473 c.798G>T p.M266I Substitution - Missense 17:50539222-50539222 + CN-AML-CR-24-Dx COSM3755662 c.1653G>A p.Q551Q Substitution - coding silent 17:50541911-50541911 + EGC15 COSM5055587 c.220G>A p.V74M Substitution - Missense 17:50536776-50536776 + WA16 COSM237345 c.201C>T p.S67S Substitution - coding silent 17:50536757-50536757 + 2492703 COSM5715706 c.757G>A p.E253K Substitution - Missense 17:50538959-50538959 + ESCC_160 COSM2699482 c.1060G>A p.V354I Substitution - Missense 17:50540873-50540873 + TCGA-EB-A44O-01 COSM3519152 c.531C>T p.S177S Substitution - coding silent 17:50537087-50537087 + HCT15 COSM2699473 c.798G>T p.M266I Substitution - Missense 17:50539222-50539222 + 523-02-5TD COSM5418234 c.762+8G>A p.? Unknown 17:50538972-50538972 + TCGA-D5-6931-01 COSM3755662 c.1653G>A p.Q551Q Substitution - coding silent 17:50541911-50541911 + TCGA-CZ-4857-01 COSM3362201 c.1299G>A p.E433E Substitution - coding silent 17:50541278-50541278 + PR-05-839 COSM244291 c.736C>T p.R246C Substitution - Missense 17:50538938-50538938 + KYSE-30 COSM4336160 c.1797delC p.P600fs*>33 Deletion - Frameshift 17:50542055-50542055 + CSCC-62-T COSM4513476 c.93C>T p.D31D Substitution - coding silent 17:50536649-50536649 + TCGA-BR-A4QL-01 COSM4067659 c.1108T>G p.S370A Substitution - Missense 17:50540921-50540921 + TCGA-HC-A4ZV-01 COSM3672500 c.372C>T p.R124R Substitution - coding silent 17:50536928-50536928 + 61 COSM5741042 c.581G>A p.R194H Substitution - Missense 17:50538097-50538097 + HCC066T COSM5821289 c.659T>A p.M220K Substitution - Missense 17:50538175-50538175 + 59 COSM5735132 c.94C>T p.P32S Substitution - Missense 17:50536650-50536650 + TCGA-DK-A3X1-01 COSM3795786 c.1597C>T p.P533S Substitution - Missense 17:50541855-50541855 + 18 COSM2699468 c.592G>A p.D198N Substitution - Missense 17:50538108-50538108 + T3446 COSM4681413 c.538C>T p.R180W Substitution - Missense 17:50537094-50537094 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.670089;Hs.670090 17q21.33 607264

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Synonymous p.T434T c.1302C>A 17 48618642 STAD C G IntronicSNV . c.682-238C>G 17 48616007 HC C G Missense p.P416R c.1247C>G 17 48618421 HNSC C T IntronicSNV . c.563-70C>T 17 48615370 CM C T Missense p.R7W c.19C>T 17 48613936 HNSC C T Missense p.S351L c.1052C>T 17 48618226 BLCA C T Missense p.S38L c.113C>T 17 48614030 BRCA C T Missense p.S413F c.1238C>T 17 48618412 BLCA C T Synonymous p.R124R c.372C>T 17 48614289 PRAD C T Synonymous p.S315S c.945C>T 17 48617661 CM C T Synonymous p.T102T c.306C>T 17 48614223 CM G A IntronicSNV . c.1-422G>A 17 48613496 CLL G A IntronicSNV . c.563-112G>A 17 48615328 CM G A IntronicSNV . c.762+8G>A 17 48616333 CLL G A IntronicSNV . c.892-43G>A 17 48617565 UCEC G A Missense p.E125K c.373G>A 17 48614290 STAD G A Missense p.E223K c.667G>A 17 48615544 HNSC G A Missense p.E55K c.163G>A 17 48614080 CM G A Missense p.R170H c.509G>A 17 48614426 MB G A Missense p.R278Q c.833G>A 17 48616618 LGG G A Missense p.R97H c.290G>A 17 48614207 HNSC G A Missense p.S462N c.1385G>A 17 48618855 HNSC G A Synonymous p.E157E c.471G>A 17 48614388 GBM G A Synonymous p.E433E c.1299G>A 17 48618639 RCCC G A Synonymous p.K151K c.453G>A 17 48614370 CM G A Synonymous p.P330P c.990G>A 17 48618164 OV G A Synonymous p.R72R c.216G>A 17 48614133 BLCA - GC Frameshift p.L611Rfs*54 c.1830_1831dupGC 17 48619450 BRCA T C IntronicSNV . c.681+90T>C 17 48615648 HC T C Synonymous p.G261G c.783T>C 17 48616568 CM