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 BLCA 16 87364973 87364973 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 g.chr16:87364973G>A c.1541C>T c.(1540-1542)gCc>gTc p.A514V BLCA 16 87365010 87365010 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr16:87365010C>G c.1504G>C c.(1504-1506)Gag>Cag p.E502Q BLCA 16 87367589 87367589 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr16:87367589C>A c.1300G>T c.(1300-1302)Gcc>Tcc p.A434S BRCA 16 87367507 87367507 + Frame_Shift_Del DEL C C - TCGA-E2-A15C-01A-31D-A12B-09 TCGA-E2-A15C-10A-01D-A12B-09 g.chr16:87367507delC c.1382delG c.(1381-1383)cgafs p.R461fs BRCA 16 87369782 87369782 + Missense_Mutation SNP A A G TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr16:87369782A>G c.821T>C c.(820-822)tTc>tCc p.F274S BRCA 16 87377347 87377347 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr16:87377347A>C c.514T>G c.(514-516)Tgg>Ggg p.W172G CESC 16 87364921 87364921 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 g.chr16:87364921G>A c.1593C>T c.(1591-1593)ctC>ctT p.L531L CESC 16 87376497 87376497 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 g.chr16:87376497C>A c.718G>T c.(718-720)Ggc>Tgc p.G240C COAD 16 87364959 87364959 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr16:87364959C>T c.1555G>A c.(1555-1557)Gca>Aca p.A519T COAD 16 87365026 87365026 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr16:87365026G>A c.1488C>T c.(1486-1488)ttC>ttT p.F496F COAD 16 87367571 87367571 + Missense_Mutation SNP A A G TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr16:87367571A>G c.1318T>C c.(1318-1320)Tgt>Cgt p.C440R COAD 16 87367768 87367768 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr16:87367768C>T c.1121G>A c.(1120-1122)cGc>cAc p.R374H COAD 16 87367838 87367838 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr16:87367838G>A c.1051C>T c.(1051-1053)Cgg>Tgg p.R351W COAD 16 87368970 87368970 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr16:87368970G>A c.936C>T c.(934-936)caC>caT p.H312H COAD 16 87369859 87369859 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr16:87369859C>T c.744G>A c.(742-744)acG>acA p.T248T COAD 16 87393909 87393909 + Missense_Mutation SNP T T C TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr16:87393909T>C c.404A>G c.(403-405)tAt>tGt p.Y135C COAD 16 87393948 87393948 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr16:87393948C>T c.365G>A c.(364-366)cGg>cAg p.R122Q COADREAD 16 87364959 87364959 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr16:87364959C>T c.1555G>A c.(1555-1557)Gca>Aca p.A519T COADREAD 16 87365026 87365026 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr16:87365026G>A c.1488C>T c.(1486-1488)ttC>ttT p.F496F COADREAD 16 87367571 87367571 + Missense_Mutation SNP A A G TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr16:87367571A>G c.1318T>C c.(1318-1320)Tgt>Cgt p.C440R COADREAD 16 87367768 87367768 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr16:87367768C>T c.1121G>A c.(1120-1122)cGc>cAc p.R374H COADREAD 16 87367838 87367838 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr16:87367838G>A c.1051C>T c.(1051-1053)Cgg>Tgg p.R351W COADREAD 16 87368970 87368970 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr16:87368970G>A c.936C>T c.(934-936)caC>caT p.H312H COADREAD 16 87369859 87369859 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr16:87369859C>T c.744G>A c.(742-744)acG>acA p.T248T COADREAD 16 87369863 87369863 + Missense_Mutation SNP C C T TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr16:87369863C>T c.740G>A c.(739-741)cGg>cAg p.R247Q COADREAD 16 87393909 87393909 + Missense_Mutation SNP T T C TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr16:87393909T>C c.404A>G c.(403-405)tAt>tGt p.Y135C COADREAD 16 87393948 87393948 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr16:87393948C>T c.365G>A c.(364-366)cGg>cAg p.R122Q ESCA 16 87364978 87364978 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr16:87364978G>T c.1536C>A c.(1534-1536)gtC>gtA p.V512V ESCA 16 87367614 87367614 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr16:87367614G>A c.1275C>T c.(1273-1275)ggC>ggT p.G425G ESCA 16 87369001 87369001 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr16:87369001G>T c.905C>A c.(904-906)cCt>cAt p.P302H ESCA 16 87380786 87380786 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 g.chr16:87380786G>A c.483C>T c.(481-483)aaC>aaT p.N161N GBM 16 87367838 87367838 + Missense_Mutation SNP G G C TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 g.chr16:87367838G>C c.1051C>G c.(1051-1053)Cgg>Ggg p.R351G GBM 16 87368933 87368933 + Missense_Mutation SNP G G A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 g.chr16:87368933G>A c.973C>T c.(973-975)Cgt>Tgt p.R325C GBMLGG 16 87367623 87367623 + Silent SNP C C T TCGA-E1-A7YW-01A-11D-A34J-08 TCGA-E1-A7YW-10A-01D-A34M-08 g.chr16:87367623C>T c.1266G>A c.(1264-1266)gaG>gaA p.E422E GBMLGG 16 87367807 87367807 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:87367807C>T c.1082G>A c.(1081-1083)cGc>cAc p.R361H GBMLGG 16 87367838 87367838 + Missense_Mutation SNP G G C TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 g.chr16:87367838G>C c.1051C>G c.(1051-1053)Cgg>Ggg p.R351G GBMLGG 16 87368933 87368933 + Missense_Mutation SNP G G A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 g.chr16:87368933G>A c.973C>T c.(973-975)Cgt>Tgt p.R325C GBMLGG 16 87369043 87369043 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:87369043C>T c.863G>A c.(862-864)cGc>cAc p.R288H GBMLGG 16 87377354 87377354 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 g.chr16:87377354G>A c.507C>T c.(505-507)atC>atT p.I169I HNSC 16 87365007 87365007 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 g.chr16:87365007G>C c.1507C>G c.(1507-1509)Ctg>Gtg p.L503V HNSC 16 87365041 87365041 + Silent SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 g.chr16:87365041G>A c.1473C>T c.(1471-1473)ttC>ttT p.F491F HNSC 16 87367559 87367560 + Frame_Shift_Ins INS - - C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr16:87367559_87367560insC c.1329_1330insG c.(1327-1332)gggcagfs p.Q444fs HNSC 16 87367628 87367628 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 g.chr16:87367628C>T c.1261G>A c.(1261-1263)Ggt>Agt p.G421S HNSC 16 87369778 87369778 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr16:87369778G>C c.825C>G c.(823-825)atC>atG p.I275M HNSC 16 87376494 87376494 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 g.chr16:87376494C>A c.721G>T c.(721-723)Ggg>Tgg p.G241W KIPAN 16 87367551 87367551 + Frame_Shift_Del DEL G G - TCGA-IA-A83W-01A-11D-A34Z-10 TCGA-IA-A83W-11A-11D-A34Z-10 g.chr16:87367551delG c.1338delC c.(1336-1338)ttcfs p.F446fs KIRP 16 87367551 87367551 + Frame_Shift_Del DEL G G - TCGA-IA-A83W-01A-11D-A34Z-10 TCGA-IA-A83W-11A-11D-A34Z-10 g.chr16:87367551delG c.1338delC c.(1336-1338)ttcfs p.F446fs LGG 16 87367623 87367623 + Silent SNP C C T TCGA-E1-A7YW-01A-11D-A34J-08 TCGA-E1-A7YW-10A-01D-A34M-08 g.chr16:87367623C>T c.1266G>A c.(1264-1266)gaG>gaA p.E422E LGG 16 87367807 87367807 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:87367807C>T c.1082G>A c.(1081-1083)cGc>cAc p.R361H LGG 16 87369043 87369043 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:87369043C>T c.863G>A c.(862-864)cGc>cAc p.R288H LGG 16 87377354 87377354 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 g.chr16:87377354G>A c.507C>T c.(505-507)atC>atT p.I169I LIHC 16 87376481 87376503 + Splice_Site DEL GCCGGCTGGTGGGCTCACCTCCT GCCGGCTGGTGGGCTCACCTCCT - TCGA-ED-A4XI-01A-11D-A25V-10 TCGA-ED-A4XI-10A-01D-A25V-10 g.chr16:87376481_87376503delGCCGGCTGGTGGGCTCACCTCCT c.712_733delAGGAGGTGAGCCCACCAGCCGGC c.(712-735)aggaggtgagcccaccagccggca>ca p.RR*AHQPA238fs LUAD 16 87364905 87364905 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr16:87364905G>A c.1609C>T c.(1609-1611)Ctc>Ttc p.L537F LUAD 16 87367539 87367539 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr16:87367539C>A c.1350G>T c.(1348-1350)gtG>gtT p.V450V LUAD 16 87376482 87376482 + Splice_Site SNP C C A TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr16:87376482C>A c.e5+1 LUAD 16 87377224 87377224 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 g.chr16:87377224G>T c.637C>A c.(637-639)Ccc>Acc p.P213T LUAD 16 87377299 87377299 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr16:87377299A>G c.562T>C c.(562-564)Ttc>Ctc p.F188L LUSC 16 87367544 87367544 + Missense_Mutation SNP G G A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr16:87367544G>A c.1345C>T c.(1345-1347)Ccc>Tcc p.P449S LUSC 16 87367769 87367769 + Missense_Mutation SNP G G A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 g.chr16:87367769G>A c.1120C>T c.(1120-1122)Cgc>Tgc p.R374C LUSC 16 87393974 87393974 + Splice_Site SNP T T G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr16:87393974T>G c.e2-2 OV 16 87393970 87393970 + Missense_Mutation SNP A A G TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 g.chr16:87393970A>G c.343T>C c.(343-345)Tat>Cat p.Y115H PAAD 16 87364932 87364932 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:87364932C>T c.1582G>A c.(1582-1584)Gat>Aat p.D528N PAAD 16 87377229 87377229 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:87377229T>G c.632A>C c.(631-633)aAa>aCa p.K211T READ 16 87369863 87369863 + Missense_Mutation SNP C C T TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr16:87369863C>T c.740G>A c.(739-741)cGg>cAg p.R247Q SKCM 16 87364906 87364906 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 g.chr16:87364906G>A c.1608C>T c.(1606-1608)tcC>tcT p.S536S SKCM 16 87367551 87367551 + Silent SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr16:87367551G>A c.1338C>T c.(1336-1338)ttC>ttT p.F446F SKCM 16 87367562 87367562 + Missense_Mutation SNP C C T TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chr16:87367562C>T c.1327G>A c.(1327-1329)Ggg>Agg p.G443R SKCM 16 87367779 87367779 + Silent SNP G G A TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr16:87367779G>A c.1110C>T c.(1108-1110)gtC>gtT p.V370V SKCM 16 87367807 87367807 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr16:87367807C>T c.1082G>A c.(1081-1083)cGc>cAc p.R361H SKCM 16 87377322 87377322 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:87377322G>A c.539C>T c.(538-540)cCc>cTc p.P180L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 16 87380809 87380809 single base substitution C T 5_prime_UTR_variant ALL-US 16 87380809 87380809 single base substitution C T exon_variant ALL-US 16 87380809 87380809 single base substitution C T intron_variant ALL-US 16 87380809 87380809 single base substitution C T missense_variant G154R 460G>A BLCA-CN 16 87369789 87369789 single base substitution T A intron_variant BLCA-CN 16 87369789 87369789 single base substitution T A missense_variant M100L 298A>T BLCA-CN 16 87369789 87369789 single base substitution T A missense_variant M272L 814A>T BLCA-US 16 87364973 87364973 single base substitution G A 3_prime_UTR_variant BLCA-US 16 87364973 87364973 single base substitution G A downstream_gene_variant BLCA-US 16 87364973 87364973 single base substitution G A missense_variant A514V 1541C>T BLCA-US 16 87365010 87365010 single base substitution C G 3_prime_UTR_variant BLCA-US 16 87365010 87365010 single base substitution C G downstream_gene_variant BLCA-US 16 87365010 87365010 single base substitution C G missense_variant E502Q 1504G>C BOCA-FR 16 87377994 87377994 single base substitution C T intron_variant BOCA-FR 16 87388180 87388180 single base substitution C T intron_variant BOCA-FR 16 87425953 87425953 single base substitution C T upstream_gene_variant BRCA-EU 16 87356444 87356444 single base substitution G A downstream_gene_variant BRCA-EU 16 87356479 87356479 single base substitution C T downstream_gene_variant BRCA-EU 16 87357169 87357169 single base substitution G A downstream_gene_variant BRCA-EU 16 87357769 87357769 single base substitution G A downstream_gene_variant BRCA-EU 16 87358422 87358422 single base substitution C T downstream_gene_variant BRCA-EU 16 87359102 87359102 insertion of <=200bp - G downstream_gene_variant BRCA-EU 16 87360141 87360141 single base substitution G A downstream_gene_variant BRCA-EU 16 87361688 87361688 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 87361688 87361688 single base substitution C T downstream_gene_variant BRCA-EU 16 87362285 87362285 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 87362285 87362285 single base substitution G A downstream_gene_variant BRCA-EU 16 87363628 87363628 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 87365548 87365548 single base substitution C T downstream_gene_variant BRCA-EU 16 87365548 87365548 single base substitution C T intron_variant BRCA-EU 16 87368208 87368208 single base substitution G A downstream_gene_variant BRCA-EU 16 87368208 87368208 single base substitution G A intron_variant BRCA-EU 16 87368283 87368283 single base substitution G A downstream_gene_variant BRCA-EU 16 87368283 87368283 single base substitution G A intron_variant BRCA-EU 16 87368496 87368496 single base substitution G A downstream_gene_variant BRCA-EU 16 87368496 87368496 single base substitution G A intron_variant BRCA-EU 16 87368755 87368755 single base substitution G C downstream_gene_variant BRCA-EU 16 87368755 87368755 single base substitution G C intron_variant BRCA-EU 16 87369058 87369058 single base substitution C T intron_variant BRCA-EU 16 87369058 87369058 single base substitution C T missense_variant C111Y 332G>A BRCA-EU 16 87369058 87369058 single base substitution C T missense_variant C283Y 848G>A BRCA-EU 16 87369344 87369344 single base substitution G A intron_variant BRCA-EU 16 87369567 87369567 single base substitution C A intron_variant BRCA-EU 16 87371068 87371068 single base substitution G T intron_variant BRCA-EU 16 87372619 87372619 single base substitution G A downstream_gene_variant BRCA-EU 16 87372619 87372619 single base substitution G A intron_variant BRCA-EU 16 87373012 87373012 single base substitution A G downstream_gene_variant BRCA-EU 16 87373012 87373012 single base substitution A G intron_variant BRCA-EU 16 87374087 87374087 single base substitution A G downstream_gene_variant BRCA-EU 16 87374087 87374087 single base substitution A G intron_variant BRCA-EU 16 87374855 87374855 single base substitution T C downstream_gene_variant BRCA-EU 16 87374855 87374855 single base substitution T C intron_variant BRCA-EU 16 87374971 87374971 single base substitution G C downstream_gene_variant BRCA-EU 16 87374971 87374971 single base substitution G C intron_variant BRCA-EU 16 87376213 87376213 single base substitution G C downstream_gene_variant BRCA-EU 16 87376213 87376213 single base substitution G C intron_variant BRCA-EU 16 87379307 87379307 single base substitution C T intron_variant BRCA-EU 16 87379991 87379991 single base substitution C A intron_variant BRCA-EU 16 87380316 87380316 single base substitution G A intron_variant BRCA-EU 16 87381842 87381842 single base substitution C T intron_variant BRCA-EU 16 87383227 87383227 single base substitution G C intron_variant BRCA-EU 16 87383352 87383352 single base substitution T A intron_variant BRCA-EU 16 87385015 87385015 deletion of <=200bp C - intron_variant BRCA-EU 16 87385945 87385945 single base substitution G A intron_variant BRCA-EU 16 87389191 87389191 single base substitution C G intron_variant BRCA-EU 16 87390068 87390068 single base substitution G C intron_variant BRCA-EU 16 87390154 87390154 single base substitution G C intron_variant BRCA-EU 16 87390999 87390999 single base substitution G C intron_variant BRCA-EU 16 87391731 87391731 single base substitution G A intron_variant BRCA-EU 16 87393635 87393635 single base substitution G A intron_variant BRCA-EU 16 87393934 87393934 single base substitution T C 5_prime_UTR_variant BRCA-EU 16 87393934 87393934 single base substitution T C exon_variant BRCA-EU 16 87393934 87393934 single base substitution T C intron_variant BRCA-EU 16 87393934 87393934 single base substitution T C missense_variant T127A 379A>G BRCA-EU 16 87394948 87394948 single base substitution G A intron_variant BRCA-EU 16 87396971 87396971 single base substitution C T downstream_gene_variant BRCA-EU 16 87396971 87396971 single base substitution C T intron_variant BRCA-EU 16 87401569 87401569 single base substitution C G intron_variant BRCA-EU 16 87401569 87401569 single base substitution C G upstream_gene_variant BRCA-EU 16 87402608 87402608 single base substitution A G intron_variant BRCA-EU 16 87402608 87402608 single base substitution A G upstream_gene_variant BRCA-EU 16 87404812 87404812 single base substitution G A intron_variant BRCA-EU 16 87404812 87404812 single base substitution G A upstream_gene_variant BRCA-EU 16 87410291 87410291 single base substitution A C intron_variant BRCA-EU 16 87410447 87410447 single base substitution T A intron_variant BRCA-EU 16 87413105 87413105 single base substitution T A intron_variant BRCA-EU 16 87416499 87416499 single base substitution C T downstream_gene_variant BRCA-EU 16 87416499 87416499 single base substitution C T intron_variant BRCA-EU 16 87418143 87418143 single base substitution G C downstream_gene_variant BRCA-EU 16 87418143 87418143 single base substitution G C intron_variant BRCA-EU 16 87418143 87418143 single base substitution G C upstream_gene_variant BRCA-EU 16 87418740 87418740 single base substitution C T downstream_gene_variant BRCA-EU 16 87418740 87418740 single base substitution C T intron_variant BRCA-EU 16 87418740 87418740 single base substitution C T upstream_gene_variant BRCA-EU 16 87419053 87419053 single base substitution G C downstream_gene_variant BRCA-EU 16 87419053 87419053 single base substitution G C intron_variant BRCA-EU 16 87419053 87419053 single base substitution G C upstream_gene_variant BRCA-EU 16 87421144 87421144 single base substitution C T intron_variant BRCA-EU 16 87421144 87421144 single base substitution C T upstream_gene_variant BRCA-EU 16 87421551 87421551 single base substitution A T intron_variant BRCA-EU 16 87421551 87421551 single base substitution A T upstream_gene_variant BRCA-EU 16 87423356 87423356 single base substitution C G 5_prime_UTR_variant BRCA-EU 16 87423356 87423356 single base substitution C G exon_variant BRCA-EU 16 87423820 87423820 single base substitution G C intron_variant BRCA-EU 16 87423820 87423820 single base substitution G C upstream_gene_variant BRCA-EU 16 87425517 87425517 single base substitution G A intron_variant BRCA-EU 16 87425517 87425517 single base substitution G A upstream_gene_variant BRCA-EU 16 87425564 87425564 single base substitution A C intron_variant BRCA-EU 16 87425564 87425564 single base substitution A C upstream_gene_variant BRCA-EU 16 87425885 87425885 single base substitution C G upstream_gene_variant BRCA-EU 16 87425888 87425888 single base substitution G A upstream_gene_variant BRCA-EU 16 87428154 87428154 single base substitution C T upstream_gene_variant BRCA-EU 16 87430181 87430181 single base substitution G C upstream_gene_variant BRCA-FR 16 87368208 87368208 single base substitution G A downstream_gene_variant BRCA-FR 16 87368208 87368208 single base substitution G A intron_variant BRCA-FR 16 87368283 87368283 single base substitution G A downstream_gene_variant BRCA-FR 16 87368283 87368283 single base substitution G A intron_variant BRCA-FR 16 87368496 87368496 single base substitution G A downstream_gene_variant BRCA-FR 16 87368496 87368496 single base substitution G A intron_variant BRCA-FR 16 87368755 87368755 single base substitution G C downstream_gene_variant BRCA-FR 16 87368755 87368755 single base substitution G C intron_variant BRCA-FR 16 87371300 87371300 single base substitution C A intron_variant BRCA-FR 16 87371316 87371316 single base substitution C T intron_variant BRCA-FR 16 87375553 87375553 single base substitution C G downstream_gene_variant BRCA-FR 16 87375553 87375553 single base substitution C G intron_variant BRCA-FR 16 87376213 87376213 single base substitution G C downstream_gene_variant BRCA-FR 16 87376213 87376213 single base substitution G C intron_variant BRCA-FR 16 87379620 87379620 single base substitution G A intron_variant BRCA-FR 16 87383227 87383227 single base substitution G C intron_variant BRCA-FR 16 87394948 87394948 single base substitution G A intron_variant BRCA-FR 16 87413105 87413105 single base substitution T A intron_variant BRCA-FR 16 87417475 87417475 single base substitution C T downstream_gene_variant BRCA-FR 16 87417475 87417475 single base substitution C T intron_variant BRCA-FR 16 87417475 87417475 single base substitution C T upstream_gene_variant BRCA-FR 16 87421199 87421199 single base substitution G C intron_variant BRCA-FR 16 87421199 87421199 single base substitution G C upstream_gene_variant BRCA-FR 16 87430181 87430181 single base substitution G C upstream_gene_variant BRCA-UK 16 87372619 87372619 single base substitution G A downstream_gene_variant BRCA-UK 16 87372619 87372619 single base substitution G A intron_variant BRCA-UK 16 87397354 87397354 single base substitution C T downstream_gene_variant BRCA-UK 16 87397354 87397354 single base substitution C T intron_variant BRCA-UK 16 87420510 87420510 single base substitution G A intron_variant BRCA-UK 16 87420510 87420510 single base substitution G A upstream_gene_variant BRCA-US 16 87367507 87367507 deletion of <=200bp C - 3_prime_UTR_variant BRCA-US 16 87367507 87367507 deletion of <=200bp C - downstream_gene_variant BRCA-US 16 87367507 87367507 deletion of <=200bp C - frameshift_variant R461 BRCA-US 16 87369782 87369782 single base substitution A G intron_variant BRCA-US 16 87369782 87369782 single base substitution A G missense_variant F102S 305T>C BRCA-US 16 87369782 87369782 single base substitution A G missense_variant F274S 821T>C BRCA-US 16 87377347 87377347 single base substitution A C 5_prime_UTR_variant BRCA-US 16 87377347 87377347 single base substitution A C downstream_gene_variant BRCA-US 16 87377347 87377347 single base substitution A C intron_variant BRCA-US 16 87377347 87377347 single base substitution A C missense_variant W172G 514T>G BTCA-JP 16 87365109 87365109 single base substitution C T 3_prime_UTR_variant BTCA-JP 16 87365109 87365109 single base substitution C T downstream_gene_variant BTCA-JP 16 87365109 87365109 single base substitution C T missense_variant G469S 1405G>A BTCA-JP 16 87376623 87376623 single base substitution C A downstream_gene_variant BTCA-JP 16 87376623 87376623 single base substitution C A intron_variant BTCA-JP 16 87377237 87377237 single base substitution G A downstream_gene_variant BTCA-JP 16 87377237 87377237 single base substitution G A intron_variant BTCA-JP 16 87377237 87377237 single base substitution G A synonymous_variant Y208Y 624C>T BTCA-JP 16 87377237 87377237 single base substitution G A synonymous_variant Y36Y 108C>T CESC-US 16 87364921 87364921 single base substitution G A 3_prime_UTR_variant CESC-US 16 87364921 87364921 single base substitution G A downstream_gene_variant CESC-US 16 87364921 87364921 single base substitution G A synonymous_variant L531L 1593C>T CESC-US 16 87376497 87376497 single base substitution C A downstream_gene_variant CESC-US 16 87376497 87376497 single base substitution C A intron_variant CESC-US 16 87376497 87376497 single base substitution C A missense_variant G240C 718G>T CESC-US 16 87376497 87376497 single base substitution C A missense_variant G68C 202G>T CLLE-ES 16 87376844 87376844 single base substitution G C downstream_gene_variant CLLE-ES 16 87376844 87376844 single base substitution G C intron_variant CLLE-ES 16 87387580 87387580 single base substitution C T intron_variant COAD-US 16 87367571 87367571 single base substitution A G 3_prime_UTR_variant COAD-US 16 87367571 87367571 single base substitution A G downstream_gene_variant COAD-US 16 87367571 87367571 single base substitution A G missense_variant C440R 1318T>C COAD-US 16 87367768 87367768 single base substitution C T downstream_gene_variant COAD-US 16 87367768 87367768 single base substitution C T intron_variant COAD-US 16 87367768 87367768 single base substitution C T missense_variant R374H 1121G>A COAD-US 16 87368970 87368970 single base substitution G A intron_variant COAD-US 16 87368970 87368970 single base substitution G A synonymous_variant H140H 420C>T COAD-US 16 87368970 87368970 single base substitution G A synonymous_variant H312H 936C>T COAD-US 16 87393900 87393900 single base substitution C T intron_variant COAD-US 16 87393900 87393900 single base substitution C T splice_donor_variant COAD-US 16 87393919 87393919 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 16 87393919 87393919 single base substitution G A exon_variant COAD-US 16 87393919 87393919 single base substitution G A intron_variant COAD-US 16 87393919 87393919 single base substitution G A missense_variant R132W 394C>T COAD-US 16 87393948 87393948 single base substitution C T 5_prime_UTR_variant COAD-US 16 87393948 87393948 single base substitution C T exon_variant COAD-US 16 87393948 87393948 single base substitution C T intron_variant COAD-US 16 87393948 87393948 single base substitution C T missense_variant R122Q 365G>A COCA-CN 16 87355638 87355638 single base substitution C T downstream_gene_variant COCA-CN 16 87365172 87365172 single base substitution G A downstream_gene_variant COCA-CN 16 87365172 87365172 single base substitution G A intron_variant COCA-CN 16 87367599 87367599 single base substitution G A downstream_gene_variant COCA-CN 16 87367599 87367599 single base substitution G A exon_variant COCA-CN 16 87367599 87367599 single base substitution G A synonymous_variant A430A 1290C>T COCA-CN 16 87367666 87367666 single base substitution C A downstream_gene_variant COCA-CN 16 87367666 87367666 single base substitution C A exon_variant COCA-CN 16 87367666 87367666 single base substitution C A missense_variant R408M 1223G>T COCA-CN 16 87367793 87367793 single base substitution G A downstream_gene_variant COCA-CN 16 87367793 87367793 single base substitution G A intron_variant COCA-CN 16 87367793 87367793 single base substitution G A missense_variant L366F 1096C>T COCA-CN 16 87369043 87369043 single base substitution C T intron_variant COCA-CN 16 87369043 87369043 single base substitution C T missense_variant R116H 347G>A COCA-CN 16 87369043 87369043 single base substitution C T missense_variant R288H 863G>A COCA-CN 16 87387303 87387303 single base substitution C T intron_variant COCA-CN 16 87393948 87393948 single base substitution C T 5_prime_UTR_variant COCA-CN 16 87393948 87393948 single base substitution C T exon_variant COCA-CN 16 87393948 87393948 single base substitution C T intron_variant COCA-CN 16 87393948 87393948 single base substitution C T missense_variant R122Q 365G>A EOPC-DE 16 87380809 87380809 single base substitution C T 5_prime_UTR_variant EOPC-DE 16 87380809 87380809 single base substitution C T exon_variant EOPC-DE 16 87380809 87380809 single base substitution C T intron_variant EOPC-DE 16 87380809 87380809 single base substitution C T missense_variant G154R 460G>A EOPC-DE 16 87384681 87384681 single base substitution G A intron_variant EOPC-DE 16 87418520 87418520 single base substitution T C downstream_gene_variant EOPC-DE 16 87418520 87418520 single base substitution T C intron_variant EOPC-DE 16 87418520 87418520 single base substitution T C upstream_gene_variant ESAD-UK 16 87356366 87356366 single base substitution G T downstream_gene_variant ESAD-UK 16 87356621 87356621 single base substitution C T downstream_gene_variant ESAD-UK 16 87357873 87357873 single base substitution C T downstream_gene_variant ESAD-UK 16 87357885 87357885 single base substitution C T downstream_gene_variant ESAD-UK 16 87357931 87357931 single base substitution C T downstream_gene_variant ESAD-UK 16 87360669 87360669 single base substitution C G 3_prime_UTR_variant ESAD-UK 16 87360669 87360669 single base substitution C G downstream_gene_variant ESAD-UK 16 87368018 87368018 single base substitution C T downstream_gene_variant ESAD-UK 16 87368018 87368018 single base substitution C T intron_variant ESAD-UK 16 87369043 87369043 single base substitution C T intron_variant ESAD-UK 16 87369043 87369043 single base substitution C T missense_variant R116H 347G>A ESAD-UK 16 87369043 87369043 single base substitution C T missense_variant R288H 863G>A ESAD-UK 16 87370593 87370593 single base substitution G A intron_variant ESAD-UK 16 87371163 87371163 single base substitution G A intron_variant ESAD-UK 16 87371931 87371931 single base substitution C T intron_variant ESAD-UK 16 87373025 87373025 single base substitution G A downstream_gene_variant ESAD-UK 16 87373025 87373025 single base substitution G A intron_variant ESAD-UK 16 87373607 87373607 single base substitution G A downstream_gene_variant ESAD-UK 16 87373607 87373607 single base substitution G A intron_variant ESAD-UK 16 87373726 87373726 single base substitution T C downstream_gene_variant ESAD-UK 16 87373726 87373726 single base substitution T C intron_variant ESAD-UK 16 87374896 87374896 single base substitution T G downstream_gene_variant ESAD-UK 16 87374896 87374896 single base substitution T G intron_variant ESAD-UK 16 87375572 87375572 single base substitution C A downstream_gene_variant ESAD-UK 16 87375572 87375572 single base substitution C A intron_variant ESAD-UK 16 87377156 87377156 single base substitution C G downstream_gene_variant ESAD-UK 16 87377156 87377156 single base substitution C G intron_variant ESAD-UK 16 87378520 87378520 single base substitution A G intron_variant ESAD-UK 16 87378590 87378590 single base substitution G A intron_variant ESAD-UK 16 87379401 87379401 single base substitution C T intron_variant ESAD-UK 16 87379585 87379585 single base substitution C T intron_variant ESAD-UK 16 87381524 87381524 single base substitution G A intron_variant ESAD-UK 16 87384459 87384459 single base substitution T A intron_variant ESAD-UK 16 87386581 87386581 single base substitution G A intron_variant ESAD-UK 16 87387347 87387347 single base substitution G C intron_variant ESAD-UK 16 87387375 87387375 single base substitution C A intron_variant ESAD-UK 16 87388662 87388662 single base substitution A T intron_variant ESAD-UK 16 87389953 87389953 single base substitution C T intron_variant ESAD-UK 16 87393344 87393344 single base substitution G A intron_variant ESAD-UK 16 87396245 87396245 single base substitution C A intron_variant ESAD-UK 16 87401407 87401407 single base substitution C T exon_variant ESAD-UK 16 87401407 87401407 single base substitution C T intron_variant ESAD-UK 16 87401407 87401407 single base substitution C T upstream_gene_variant ESAD-UK 16 87402134 87402134 single base substitution A G intron_variant ESAD-UK 16 87402134 87402134 single base substitution A G upstream_gene_variant ESAD-UK 16 87403040 87403040 single base substitution G A intron_variant ESAD-UK 16 87403040 87403040 single base substitution G A upstream_gene_variant ESAD-UK 16 87403786 87403786 single base substitution G A intron_variant ESAD-UK 16 87403786 87403786 single base substitution G A upstream_gene_variant ESAD-UK 16 87404550 87404550 single base substitution G A intron_variant ESAD-UK 16 87404550 87404550 single base substitution G A upstream_gene_variant ESAD-UK 16 87405986 87405986 single base substitution G A intron_variant ESAD-UK 16 87405986 87405986 single base substitution G A upstream_gene_variant ESAD-UK 16 87407774 87407774 single base substitution G T intron_variant ESAD-UK 16 87411203 87411203 single base substitution G A intron_variant ESAD-UK 16 87417710 87417710 single base substitution A G downstream_gene_variant ESAD-UK 16 87417710 87417710 single base substitution A G intron_variant ESAD-UK 16 87417710 87417710 single base substitution A G upstream_gene_variant ESAD-UK 16 87418476 87418476 insertion of <=200bp - A downstream_gene_variant ESAD-UK 16 87418476 87418476 insertion of <=200bp - A intron_variant ESAD-UK 16 87418476 87418476 insertion of <=200bp - A upstream_gene_variant ESAD-UK 16 87424526 87424526 single base substitution C T intron_variant ESAD-UK 16 87424526 87424526 single base substitution C T upstream_gene_variant ESAD-UK 16 87425589 87425589 single base substitution G A intron_variant ESAD-UK 16 87425589 87425589 single base substitution G A upstream_gene_variant ESAD-UK 16 87425623 87425623 single base substitution C T intron_variant ESAD-UK 16 87425623 87425623 single base substitution C T upstream_gene_variant ESAD-UK 16 87425771 87425771 single base substitution C G upstream_gene_variant ESAD-UK 16 87426328 87426328 single base substitution C T upstream_gene_variant ESAD-UK 16 87428341 87428341 single base substitution A G upstream_gene_variant ESAD-UK 16 87429153 87429153 single base substitution G A upstream_gene_variant ESAD-UK 16 87430166 87430166 single base substitution C A upstream_gene_variant ESCA-CN 16 87368922 87368922 single base substitution G A downstream_gene_variant ESCA-CN 16 87368922 87368922 single base substitution G A intron_variant ESCA-CN 16 87368922 87368922 single base substitution G A synonymous_variant G328G 984C>T GBM-US 16 87367838 87367838 single base substitution G C downstream_gene_variant GBM-US 16 87367838 87367838 single base substitution G C intron_variant GBM-US 16 87367838 87367838 single base substitution G C missense_variant R351G 1051C>G GBM-US 16 87368933 87368933 single base substitution G A downstream_gene_variant GBM-US 16 87368933 87368933 single base substitution G A intron_variant GBM-US 16 87368933 87368933 single base substitution G A missense_variant R325C 973C>T KIRC-US 16 87394002 87394002 single base substitution A T intron_variant LAML-KR 16 87377440 87377440 single base substitution T C intron_variant LAML-KR 16 87387267 87387267 single base substitution G C intron_variant LAML-KR 16 87409895 87409895 single base substitution G T intron_variant LICA-CN 16 87365040 87365040 single base substitution C A 3_prime_UTR_variant LICA-CN 16 87365040 87365040 single base substitution C A downstream_gene_variant LICA-CN 16 87365040 87365040 single base substitution C A missense_variant D492Y 1474G>T LICA-CN 16 87380836 87380836 single base substitution T C 5_prime_UTR_variant LICA-CN 16 87380836 87380836 single base substitution T C exon_variant LICA-CN 16 87380836 87380836 single base substitution T C intron_variant LICA-CN 16 87380836 87380836 single base substitution T C missense_variant I145V 433A>G LICA-FR 16 87369340 87369340 single base substitution G A intron_variant LICA-FR 16 87388398 87388417 deletion of <=200bp ACCCCGTCTCTACTAAAAAT - intron_variant LICA-FR 16 87390414 87390414 single base substitution G A intron_variant LICA-FR 16 87397508 87397508 single base substitution G C downstream_gene_variant LICA-FR 16 87397508 87397508 single base substitution G C intron_variant LICA-FR 16 87398781 87398781 single base substitution C G downstream_gene_variant LICA-FR 16 87398781 87398781 single base substitution C G intron_variant LICA-FR 16 87414601 87414601 single base substitution C G intron_variant LIHC-US 16 87364936 87364936 single base substitution G A 3_prime_UTR_variant LIHC-US 16 87364936 87364936 single base substitution G A downstream_gene_variant LIHC-US 16 87364936 87364936 single base substitution G A synonymous_variant A526A 1578C>T LIHC-US 16 87376465 87376487 deletion of <=200bp GCCGGCTGGTGGGCTCACCTCCT - downstream_gene_variant LIHC-US 16 87376465 87376487 deletion of <=200bp GCCGGCTGGTGGGCTCACCTCCT - frameshift_variant QE243 LIHC-US 16 87376465 87376487 deletion of <=200bp GCCGGCTGGTGGGCTCACCTCCT - frameshift_variant QE71 LIHC-US 16 87376465 87376487 deletion of <=200bp GCCGGCTGGTGGGCTCACCTCCT - intron_variant LINC-JP 16 87378248 87378248 deletion of <=200bp T - intron_variant LINC-JP 16 87394682 87394682 single base substitution T C intron_variant LINC-JP 16 87399422 87399422 single base substitution T A downstream_gene_variant LINC-JP 16 87399422 87399422 single base substitution T A intron_variant LINC-JP 16 87410565 87410565 single base substitution C T intron_variant LINC-JP 16 87412937 87412937 single base substitution G A intron_variant LINC-JP 16 87425021 87425021 single base substitution A G intron_variant LINC-JP 16 87425021 87425021 single base substitution A G upstream_gene_variant LINC-JP 16 87427758 87427758 single base substitution G T upstream_gene_variant LIRI-JP 16 87356048 87356048 single base substitution G A downstream_gene_variant LIRI-JP 16 87357604 87357604 single base substitution G C downstream_gene_variant LIRI-JP 16 87357761 87357761 single base substitution T C downstream_gene_variant LIRI-JP 16 87360673 87360673 single base substitution G A 3_prime_UTR_variant LIRI-JP 16 87360673 87360673 single base substitution G A downstream_gene_variant LIRI-JP 16 87364178 87364178 single base substitution G A 3_prime_UTR_variant LIRI-JP 16 87364178 87364178 single base substitution G A downstream_gene_variant LIRI-JP 16 87366660 87366660 single base substitution G C downstream_gene_variant LIRI-JP 16 87366660 87366660 single base substitution G C intron_variant LIRI-JP 16 87370346 87370346 single base substitution C G intron_variant LIRI-JP 16 87370972 87370972 single base substitution G C intron_variant LIRI-JP 16 87371326 87371326 single base substitution A C intron_variant LIRI-JP 16 87372828 87372828 single base substitution T G downstream_gene_variant LIRI-JP 16 87372828 87372828 single base substitution T G intron_variant LIRI-JP 16 87375328 87375328 single base substitution T C downstream_gene_variant LIRI-JP 16 87375328 87375328 single base substitution T C intron_variant LIRI-JP 16 87375366 87375366 single base substitution T C downstream_gene_variant LIRI-JP 16 87375366 87375366 single base substitution T C intron_variant LIRI-JP 16 87376050 87376050 single base substitution C T downstream_gene_variant LIRI-JP 16 87376050 87376050 single base substitution C T intron_variant LIRI-JP 16 87379220 87379220 single base substitution C A intron_variant LIRI-JP 16 87380039 87380039 single base substitution C T intron_variant LIRI-JP 16 87383599 87383600 deletion of <=200bp CA - intron_variant LIRI-JP 16 87385015 87385015 deletion of <=200bp C - intron_variant LIRI-JP 16 87386038 87386038 single base substitution T C intron_variant LIRI-JP 16 87386580 87386580 single base substitution C T intron_variant LIRI-JP 16 87390406 87390406 single base substitution G C intron_variant LIRI-JP 16 87391773 87391773 single base substitution T C intron_variant LIRI-JP 16 87392203 87392203 single base substitution T C intron_variant LIRI-JP 16 87395310 87395310 single base substitution G A intron_variant LIRI-JP 16 87396005 87396005 single base substitution T C intron_variant LIRI-JP 16 87396718 87396718 single base substitution C T downstream_gene_variant LIRI-JP 16 87396718 87396718 single base substitution C T intron_variant LIRI-JP 16 87398884 87398884 single base substitution C A downstream_gene_variant LIRI-JP 16 87398884 87398884 single base substitution C A intron_variant LIRI-JP 16 87399004 87399004 single base substitution C T downstream_gene_variant LIRI-JP 16 87399004 87399004 single base substitution C T intron_variant LIRI-JP 16 87402373 87402373 single base substitution T G intron_variant LIRI-JP 16 87402373 87402373 single base substitution T G upstream_gene_variant LIRI-JP 16 87403325 87403325 single base substitution C T intron_variant LIRI-JP 16 87403325 87403325 single base substitution C T upstream_gene_variant LIRI-JP 16 87403433 87403433 single base substitution A G intron_variant LIRI-JP 16 87403433 87403433 single base substitution A G upstream_gene_variant LIRI-JP 16 87404592 87404592 single base substitution C T intron_variant LIRI-JP 16 87404592 87404592 single base substitution C T upstream_gene_variant LIRI-JP 16 87404713 87404713 single base substitution C G intron_variant LIRI-JP 16 87404713 87404713 single base substitution C G upstream_gene_variant LIRI-JP 16 87405163 87405163 single base substitution A G intron_variant LIRI-JP 16 87405163 87405163 single base substitution A G upstream_gene_variant LIRI-JP 16 87407157 87407157 single base substitution A G intron_variant LIRI-JP 16 87409124 87409124 single base substitution G A intron_variant LIRI-JP 16 87413181 87413181 single base substitution C A intron_variant LIRI-JP 16 87414383 87414383 single base substitution G A intron_variant LIRI-JP 16 87416230 87416230 single base substitution C T downstream_gene_variant LIRI-JP 16 87416230 87416230 single base substitution C T intron_variant LIRI-JP 16 87425545 87425545 single base substitution C A intron_variant LIRI-JP 16 87425545 87425545 single base substitution C A upstream_gene_variant LIRI-JP 16 87425977 87425977 single base substitution C T upstream_gene_variant LIRI-JP 16 87426649 87426649 deletion of <=200bp C - upstream_gene_variant LIRI-JP 16 87429336 87429336 single base substitution C A upstream_gene_variant LIRI-JP 16 87430585 87430585 single base substitution C T upstream_gene_variant LUSC-KR 16 87364378 87364378 single base substitution G A 3_prime_UTR_variant LUSC-KR 16 87364378 87364378 single base substitution G A downstream_gene_variant LUSC-KR 16 87364488 87364488 single base substitution C T 3_prime_UTR_variant LUSC-KR 16 87364488 87364488 single base substitution C T downstream_gene_variant LUSC-KR 16 87364663 87364663 single base substitution C G 3_prime_UTR_variant LUSC-KR 16 87364663 87364663 single base substitution C G downstream_gene_variant LUSC-KR 16 87365222 87365222 single base substitution A G downstream_gene_variant LUSC-KR 16 87365222 87365222 single base substitution A G intron_variant LUSC-KR 16 87367593 87367593 single base substitution A T 3_prime_UTR_variant LUSC-KR 16 87367593 87367593 single base substitution A T downstream_gene_variant LUSC-KR 16 87367593 87367593 single base substitution A T synonymous_variant A432A 1296T>A LUSC-KR 16 87374072 87374072 single base substitution T C downstream_gene_variant LUSC-KR 16 87374072 87374072 single base substitution T C intron_variant LUSC-KR 16 87381187 87381187 single base substitution G A intron_variant LUSC-KR 16 87383498 87383498 single base substitution G C intron_variant LUSC-KR 16 87391824 87391824 single base substitution C A intron_variant LUSC-KR 16 87393905 87393905 single base substitution C A 5_prime_UTR_variant LUSC-KR 16 87393905 87393905 single base substitution C A exon_variant LUSC-KR 16 87393905 87393905 single base substitution C A intron_variant LUSC-KR 16 87393905 87393905 single base substitution C A synonymous_variant A136A 408G>T LUSC-KR 16 87396552 87396552 single base substitution C A downstream_gene_variant LUSC-KR 16 87396552 87396552 single base substitution C A intron_variant LUSC-KR 16 87397708 87397708 single base substitution T C downstream_gene_variant LUSC-KR 16 87397708 87397708 single base substitution T C intron_variant LUSC-KR 16 87399348 87399348 single base substitution C G downstream_gene_variant LUSC-KR 16 87399348 87399348 single base substitution C G intron_variant LUSC-KR 16 87403109 87403109 single base substitution G T intron_variant LUSC-KR 16 87403109 87403109 single base substitution G T upstream_gene_variant LUSC-KR 16 87411765 87411765 single base substitution C A intron_variant LUSC-KR 16 87412682 87412682 single base substitution A C intron_variant LUSC-KR 16 87413398 87413398 single base substitution C G intron_variant LUSC-KR 16 87414879 87414879 single base substitution T A downstream_gene_variant LUSC-KR 16 87414879 87414879 single base substitution T A intron_variant LUSC-KR 16 87417175 87417175 single base substitution G T downstream_gene_variant LUSC-KR 16 87417175 87417175 single base substitution G T exon_variant LUSC-KR 16 87417175 87417175 single base substitution G T intron_variant LUSC-KR 16 87417175 87417175 single base substitution G T stop_gained S59* 176C>A LUSC-KR 16 87417700 87417700 single base substitution C T downstream_gene_variant LUSC-KR 16 87417700 87417700 single base substitution C T intron_variant LUSC-KR 16 87417700 87417700 single base substitution C T upstream_gene_variant LUSC-KR 16 87417705 87417705 single base substitution C T downstream_gene_variant LUSC-KR 16 87417705 87417705 single base substitution C T intron_variant LUSC-KR 16 87417705 87417705 single base substitution C T upstream_gene_variant LUSC-KR 16 87417969 87417969 single base substitution G A downstream_gene_variant LUSC-KR 16 87417969 87417969 single base substitution G A intron_variant LUSC-KR 16 87417969 87417969 single base substitution G A upstream_gene_variant LUSC-KR 16 87425739 87425739 single base substitution G T exon_variant LUSC-KR 16 87425739 87425739 single base substitution G T upstream_gene_variant LUSC-KR 16 87429576 87429576 single base substitution C T upstream_gene_variant LUSC-US 16 87367544 87367544 single base substitution G A 3_prime_UTR_variant LUSC-US 16 87367544 87367544 single base substitution G A downstream_gene_variant LUSC-US 16 87367544 87367544 single base substitution G A missense_variant P449S 1345C>T LUSC-US 16 87367769 87367769 single base substitution G A downstream_gene_variant LUSC-US 16 87367769 87367769 single base substitution G A intron_variant LUSC-US 16 87367769 87367769 single base substitution G A missense_variant R374C 1120C>T LUSC-US 16 87393974 87393974 single base substitution T G intron_variant LUSC-US 16 87393974 87393974 single base substitution T G splice_acceptor_variant MALY-DE 16 87358757 87358757 single base substitution C T downstream_gene_variant MALY-DE 16 87363657 87363657 single base substitution G A 3_prime_UTR_variant MALY-DE 16 87364906 87364906 single base substitution G A 3_prime_UTR_variant MALY-DE 16 87364906 87364906 single base substitution G A downstream_gene_variant MALY-DE 16 87364906 87364906 single base substitution G A synonymous_variant S536S 1608C>T MALY-DE 16 87379803 87379803 single base substitution C T intron_variant MALY-DE 16 87382360 87382360 single base substitution G A intron_variant MALY-DE 16 87386217 87386217 single base substitution C T intron_variant MALY-DE 16 87391523 87391523 insertion of <=200bp - A intron_variant MALY-DE 16 87395529 87395529 single base substitution T C intron_variant MALY-DE 16 87402221 87402221 single base substitution A G intron_variant MALY-DE 16 87402221 87402221 single base substitution A G upstream_gene_variant MALY-DE 16 87404501 87404501 single base substitution T C intron_variant MALY-DE 16 87404501 87404501 single base substitution T C upstream_gene_variant MALY-DE 16 87407215 87407215 single base substitution G A intron_variant MALY-DE 16 87423615 87423615 single base substitution G A intron_variant MALY-DE 16 87423615 87423615 single base substitution G A upstream_gene_variant MELA-AU 16 87355901 87355901 single base substitution C T downstream_gene_variant MELA-AU 16 87357658 87357658 single base substitution A G downstream_gene_variant MELA-AU 16 87358101 87358101 single base substitution A G downstream_gene_variant MELA-AU 16 87358505 87358505 single base substitution G A downstream_gene_variant MELA-AU 16 87358582 87358582 single base substitution G A downstream_gene_variant MELA-AU 16 87358585 87358585 single base substitution G A downstream_gene_variant MELA-AU 16 87358886 87358887 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 87359261 87359261 single base substitution C T downstream_gene_variant MELA-AU 16 87360184 87360184 single base substitution G A downstream_gene_variant MELA-AU 16 87360695 87360696 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 16 87360695 87360696 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 87361603 87361603 single base substitution G A 3_prime_UTR_variant MELA-AU 16 87361603 87361603 single base substitution G A downstream_gene_variant MELA-AU 16 87362022 87362022 single base substitution C T 3_prime_UTR_variant MELA-AU 16 87362022 87362022 single base substitution C T downstream_gene_variant MELA-AU 16 87362096 87362096 single base substitution C T 3_prime_UTR_variant MELA-AU 16 87362096 87362096 single base substitution C T downstream_gene_variant MELA-AU 16 87362538 87362538 single base substitution G A 3_prime_UTR_variant MELA-AU 16 87362538 87362538 single base substitution G A downstream_gene_variant MELA-AU 16 87362822 87362822 single base substitution G A 3_prime_UTR_variant MELA-AU 16 87362822 87362822 single base substitution G A downstream_gene_variant MELA-AU 16 87363047 87363047 single base substitution G A 3_prime_UTR_variant MELA-AU 16 87363058 87363058 single base substitution A T 3_prime_UTR_variant MELA-AU 16 87363216 87363216 single base substitution G A 3_prime_UTR_variant MELA-AU 16 87363249 87363249 single base substitution G A 3_prime_UTR_variant MELA-AU 16 87363377 87363377 single base substitution G A 3_prime_UTR_variant MELA-AU 16 87363498 87363498 single base substitution G A 3_prime_UTR_variant MELA-AU 16 87363753 87363754 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 16 87363865 87363866 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 16 87364073 87364073 single base substitution G A 3_prime_UTR_variant MELA-AU 16 87364073 87364073 single base substitution G A downstream_gene_variant MELA-AU 16 87364271 87364271 single base substitution G A 3_prime_UTR_variant MELA-AU 16 87364271 87364271 single base substitution G A downstream_gene_variant MELA-AU 16 87364358 87364358 single base substitution A G 3_prime_UTR_variant MELA-AU 16 87364358 87364358 single base substitution A G downstream_gene_variant MELA-AU 16 87364539 87364539 single base substitution C T 3_prime_UTR_variant MELA-AU 16 87364539 87364539 single base substitution C T downstream_gene_variant MELA-AU 16 87365376 87365376 single base substitution G A downstream_gene_variant MELA-AU 16 87365376 87365376 single base substitution G A intron_variant MELA-AU 16 87366560 87366560 single base substitution G A downstream_gene_variant MELA-AU 16 87366560 87366560 single base substitution G A intron_variant MELA-AU 16 87366781 87366781 single base substitution C G downstream_gene_variant MELA-AU 16 87366781 87366781 single base substitution C G intron_variant MELA-AU 16 87367229 87367229 single base substitution C T downstream_gene_variant MELA-AU 16 87367229 87367229 single base substitution C T intron_variant MELA-AU 16 87367262 87367263 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 87367262 87367263 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 87367325 87367325 single base substitution G T downstream_gene_variant MELA-AU 16 87367325 87367325 single base substitution G T intron_variant MELA-AU 16 87367699 87367700 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 87367699 87367700 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 16 87367699 87367700 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P397F 1189CC>TT MELA-AU 16 87367890 87367890 single base substitution G C downstream_gene_variant MELA-AU 16 87367890 87367890 single base substitution G C intron_variant MELA-AU 16 87367890 87367890 single base substitution G C splice_region_variant MELA-AU 16 87368329 87368329 single base substitution G A downstream_gene_variant MELA-AU 16 87368329 87368329 single base substitution G A intron_variant MELA-AU 16 87368685 87368685 single base substitution G A downstream_gene_variant MELA-AU 16 87368685 87368685 single base substitution G A intron_variant MELA-AU 16 87369226 87369226 single base substitution G A intron_variant MELA-AU 16 87369364 87369364 single base substitution G A intron_variant MELA-AU 16 87369670 87369670 single base substitution G A intron_variant MELA-AU 16 87370327 87370327 single base substitution G A intron_variant MELA-AU 16 87370401 87370402 multiple base substitution (>=2bp and <=200bp) GT AC intron_variant MELA-AU 16 87371433 87371433 single base substitution A T intron_variant MELA-AU 16 87372475 87372475 single base substitution A C downstream_gene_variant MELA-AU 16 87372475 87372475 single base substitution A C intron_variant MELA-AU 16 87372942 87372942 single base substitution G A downstream_gene_variant MELA-AU 16 87372942 87372942 single base substitution G A intron_variant MELA-AU 16 87373271 87373271 single base substitution G A downstream_gene_variant MELA-AU 16 87373271 87373271 single base substitution G A intron_variant MELA-AU 16 87373411 87373411 single base substitution G A downstream_gene_variant MELA-AU 16 87373411 87373411 single base substitution G A intron_variant MELA-AU 16 87374201 87374201 single base substitution G A downstream_gene_variant MELA-AU 16 87374201 87374201 single base substitution G A intron_variant MELA-AU 16 87374437 87374437 single base substitution G A downstream_gene_variant MELA-AU 16 87374437 87374437 single base substitution G A intron_variant MELA-AU 16 87375028 87375028 single base substitution G A downstream_gene_variant MELA-AU 16 87375028 87375028 single base substitution G A intron_variant MELA-AU 16 87375142 87375142 single base substitution A G downstream_gene_variant MELA-AU 16 87375142 87375142 single base substitution A G intron_variant MELA-AU 16 87375169 87375169 single base substitution G A downstream_gene_variant MELA-AU 16 87375169 87375169 single base substitution G A intron_variant MELA-AU 16 87375239 87375239 single base substitution G A downstream_gene_variant MELA-AU 16 87375239 87375239 single base substitution G A intron_variant MELA-AU 16 87375507 87375507 single base substitution A G downstream_gene_variant MELA-AU 16 87375507 87375507 single base substitution A G intron_variant MELA-AU 16 87376200 87376200 single base substitution G A downstream_gene_variant MELA-AU 16 87376200 87376200 single base substitution G A intron_variant MELA-AU 16 87376272 87376272 single base substitution G A downstream_gene_variant MELA-AU 16 87376272 87376272 single base substitution G A intron_variant MELA-AU 16 87376433 87376433 single base substitution G A downstream_gene_variant MELA-AU 16 87376433 87376433 single base substitution G A intron_variant MELA-AU 16 87377159 87377159 single base substitution G A downstream_gene_variant MELA-AU 16 87377159 87377159 single base substitution G A intron_variant MELA-AU 16 87377354 87377354 single base substitution G A 5_prime_UTR_variant MELA-AU 16 87377354 87377354 single base substitution G A exon_variant MELA-AU 16 87377354 87377354 single base substitution G A intron_variant MELA-AU 16 87377354 87377354 single base substitution G A synonymous_variant I169I 507C>T MELA-AU 16 87377377 87377378 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 87377377 87377378 multiple base substitution (>=2bp and <=200bp) GG AA splice_region_variant MELA-AU 16 87377381 87377381 single base substitution G A intron_variant MELA-AU 16 87377518 87377518 single base substitution G A intron_variant MELA-AU 16 87378358 87378358 single base substitution C T intron_variant MELA-AU 16 87379597 87379597 single base substitution G A intron_variant MELA-AU 16 87379673 87379673 single base substitution G A intron_variant MELA-AU 16 87379713 87379713 single base substitution G A intron_variant MELA-AU 16 87379757 87379757 single base substitution G A intron_variant MELA-AU 16 87380307 87380307 single base substitution G A intron_variant MELA-AU 16 87380656 87380656 single base substitution G A intron_variant MELA-AU 16 87380930 87380931 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 87380934 87380934 single base substitution G A intron_variant MELA-AU 16 87380959 87380959 single base substitution G A intron_variant MELA-AU 16 87381273 87381273 single base substitution G A intron_variant MELA-AU 16 87381566 87381566 single base substitution G A intron_variant MELA-AU 16 87381893 87381893 single base substitution C T intron_variant MELA-AU 16 87381962 87381962 single base substitution G A intron_variant MELA-AU 16 87383746 87383746 single base substitution G A intron_variant MELA-AU 16 87386045 87386045 single base substitution G A intron_variant MELA-AU 16 87386381 87386381 single base substitution G T intron_variant MELA-AU 16 87386645 87386645 single base substitution G A intron_variant MELA-AU 16 87386654 87386654 single base substitution G A intron_variant MELA-AU 16 87388234 87388234 single base substitution G A intron_variant MELA-AU 16 87388597 87388597 single base substitution C T intron_variant MELA-AU 16 87388653 87388653 single base substitution G A intron_variant MELA-AU 16 87388671 87388671 single base substitution G A intron_variant MELA-AU 16 87389347 87389348 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 87389875 87389875 single base substitution C T intron_variant MELA-AU 16 87389969 87389969 single base substitution G A intron_variant MELA-AU 16 87390627 87390627 single base substitution G A intron_variant MELA-AU 16 87390984 87390984 single base substitution G A intron_variant MELA-AU 16 87391313 87391314 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 87392416 87392416 single base substitution G A intron_variant MELA-AU 16 87392766 87392766 single base substitution C T intron_variant MELA-AU 16 87392890 87392890 single base substitution C T intron_variant MELA-AU 16 87393032 87393032 single base substitution G A intron_variant MELA-AU 16 87393829 87393829 insertion of <=200bp - T intron_variant MELA-AU 16 87394058 87394058 single base substitution A G intron_variant MELA-AU 16 87394288 87394288 single base substitution G A intron_variant MELA-AU 16 87394697 87394697 single base substitution C T intron_variant MELA-AU 16 87395037 87395037 single base substitution G A intron_variant MELA-AU 16 87395566 87395566 single base substitution G A intron_variant MELA-AU 16 87395712 87395712 single base substitution G A intron_variant MELA-AU 16 87396179 87396179 single base substitution G A intron_variant MELA-AU 16 87396190 87396190 single base substitution G A intron_variant MELA-AU 16 87396675 87396675 single base substitution A C downstream_gene_variant MELA-AU 16 87396675 87396675 single base substitution A C intron_variant MELA-AU 16 87397854 87397854 single base substitution G A downstream_gene_variant MELA-AU 16 87397854 87397854 single base substitution G A intron_variant MELA-AU 16 87399972 87399972 single base substitution G A downstream_gene_variant MELA-AU 16 87399972 87399972 single base substitution G A intron_variant MELA-AU 16 87400126 87400126 single base substitution A C downstream_gene_variant MELA-AU 16 87400126 87400126 single base substitution A C intron_variant MELA-AU 16 87400151 87400151 single base substitution G A downstream_gene_variant MELA-AU 16 87400151 87400151 single base substitution G A intron_variant MELA-AU 16 87400193 87400193 single base substitution G A downstream_gene_variant MELA-AU 16 87400193 87400193 single base substitution G A intron_variant MELA-AU 16 87400390 87400390 single base substitution G A downstream_gene_variant MELA-AU 16 87400390 87400390 single base substitution G A intron_variant MELA-AU 16 87400515 87400516 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 87400515 87400516 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 87401459 87401459 single base substitution T C exon_variant MELA-AU 16 87401459 87401459 single base substitution T C intron_variant MELA-AU 16 87401459 87401459 single base substitution T C upstream_gene_variant MELA-AU 16 87401991 87401991 single base substitution G A intron_variant MELA-AU 16 87401991 87401991 single base substitution G A upstream_gene_variant MELA-AU 16 87402387 87402387 single base substitution A G intron_variant MELA-AU 16 87402387 87402387 single base substitution A G upstream_gene_variant MELA-AU 16 87402647 87402647 single base substitution G A intron_variant MELA-AU 16 87402647 87402647 single base substitution G A upstream_gene_variant MELA-AU 16 87402694 87402694 single base substitution C T intron_variant MELA-AU 16 87402694 87402694 single base substitution C T upstream_gene_variant MELA-AU 16 87403152 87403152 single base substitution G A intron_variant MELA-AU 16 87403152 87403152 single base substitution G A upstream_gene_variant MELA-AU 16 87403344 87403344 single base substitution G A intron_variant MELA-AU 16 87403344 87403344 single base substitution G A upstream_gene_variant MELA-AU 16 87403436 87403436 single base substitution G A intron_variant MELA-AU 16 87403436 87403436 single base substitution G A upstream_gene_variant MELA-AU 16 87403955 87403955 single base substitution G A intron_variant MELA-AU 16 87403955 87403955 single base substitution G A upstream_gene_variant MELA-AU 16 87404242 87404242 single base substitution G A intron_variant MELA-AU 16 87404242 87404242 single base substitution G A upstream_gene_variant MELA-AU 16 87404341 87404341 single base substitution G A intron_variant MELA-AU 16 87404341 87404341 single base substitution G A upstream_gene_variant MELA-AU 16 87404728 87404728 single base substitution G A intron_variant MELA-AU 16 87404728 87404728 single base substitution G A upstream_gene_variant MELA-AU 16 87405639 87405639 single base substitution G A intron_variant MELA-AU 16 87405639 87405639 single base substitution G A upstream_gene_variant MELA-AU 16 87406984 87406984 single base substitution G A intron_variant MELA-AU 16 87407603 87407603 single base substitution T C intron_variant MELA-AU 16 87407834 87407834 single base substitution G A intron_variant MELA-AU 16 87407924 87407924 single base substitution G A intron_variant MELA-AU 16 87408099 87408099 single base substitution C T intron_variant MELA-AU 16 87408264 87408264 single base substitution C T intron_variant MELA-AU 16 87409299 87409299 single base substitution C T intron_variant MELA-AU 16 87409781 87409781 single base substitution T A intron_variant MELA-AU 16 87410072 87410072 single base substitution G A intron_variant MELA-AU 16 87410272 87410272 single base substitution G A intron_variant MELA-AU 16 87410468 87410468 single base substitution A T intron_variant MELA-AU 16 87411700 87411700 single base substitution G A intron_variant MELA-AU 16 87411843 87411843 single base substitution G A intron_variant MELA-AU 16 87411953 87411953 single base substitution T C intron_variant MELA-AU 16 87412328 87412328 single base substitution G A intron_variant MELA-AU 16 87413046 87413046 single base substitution G T intron_variant MELA-AU 16 87414802 87414802 single base substitution A T downstream_gene_variant MELA-AU 16 87414802 87414802 single base substitution A T intron_variant MELA-AU 16 87415550 87415550 single base substitution A G downstream_gene_variant MELA-AU 16 87415550 87415550 single base substitution A G intron_variant MELA-AU 16 87417456 87417457 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 87417456 87417457 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 87417456 87417457 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 87418003 87418003 single base substitution C T downstream_gene_variant MELA-AU 16 87418003 87418003 single base substitution C T intron_variant MELA-AU 16 87418003 87418003 single base substitution C T upstream_gene_variant MELA-AU 16 87418030 87418030 single base substitution C T downstream_gene_variant MELA-AU 16 87418030 87418030 single base substitution C T intron_variant MELA-AU 16 87418030 87418030 single base substitution C T upstream_gene_variant MELA-AU 16 87418492 87418492 single base substitution C T downstream_gene_variant MELA-AU 16 87418492 87418492 single base substitution C T intron_variant MELA-AU 16 87418492 87418492 single base substitution C T upstream_gene_variant MELA-AU 16 87418520 87418520 single base substitution T C downstream_gene_variant MELA-AU 16 87418520 87418520 single base substitution T C intron_variant MELA-AU 16 87418520 87418520 single base substitution T C upstream_gene_variant MELA-AU 16 87419530 87419530 single base substitution T C downstream_gene_variant MELA-AU 16 87419530 87419530 single base substitution T C intron_variant MELA-AU 16 87419530 87419530 single base substitution T C upstream_gene_variant MELA-AU 16 87419669 87419669 single base substitution A G exon_variant MELA-AU 16 87419669 87419669 single base substitution A G intron_variant MELA-AU 16 87419669 87419669 single base substitution A G upstream_gene_variant MELA-AU 16 87421061 87421061 single base substitution C G intron_variant MELA-AU 16 87421061 87421061 single base substitution C G upstream_gene_variant MELA-AU 16 87421539 87421539 single base substitution G A intron_variant MELA-AU 16 87421539 87421539 single base substitution G A upstream_gene_variant MELA-AU 16 87422565 87422565 single base substitution T C intron_variant MELA-AU 16 87423433 87423433 single base substitution C T 5_prime_UTR_variant MELA-AU 16 87423433 87423433 single base substitution C T exon_variant MELA-AU 16 87423924 87423924 single base substitution A T intron_variant MELA-AU 16 87423924 87423924 single base substitution A T upstream_gene_variant MELA-AU 16 87425353 87425353 single base substitution G A intron_variant MELA-AU 16 87425353 87425353 single base substitution G A upstream_gene_variant MELA-AU 16 87425674 87425674 single base substitution G C intron_variant MELA-AU 16 87425674 87425674 single base substitution G C upstream_gene_variant MELA-AU 16 87425764 87425764 single base substitution C T upstream_gene_variant MELA-AU 16 87425824 87425824 single base substitution C T upstream_gene_variant MELA-AU 16 87425858 87425858 single base substitution C T upstream_gene_variant MELA-AU 16 87425860 87425860 single base substitution C T upstream_gene_variant MELA-AU 16 87425974 87425974 single base substitution C T upstream_gene_variant MELA-AU 16 87426867 87426867 single base substitution C T upstream_gene_variant MELA-AU 16 87428513 87428513 single base substitution C T upstream_gene_variant MELA-AU 16 87428676 87428676 single base substitution C T upstream_gene_variant MELA-AU 16 87429448 87429448 single base substitution T A upstream_gene_variant MELA-AU 16 87429497 87429497 single base substitution C T upstream_gene_variant MELA-AU 16 87429963 87429964 multiple base substitution (>=2bp and <=200bp) CC TG upstream_gene_variant MELA-AU 16 87430105 87430105 single base substitution C T upstream_gene_variant MELA-AU 16 87430474 87430474 single base substitution C T upstream_gene_variant ORCA-IN 16 87383013 87383013 single base substitution G A intron_variant ORCA-IN 16 87388982 87388982 single base substitution C T intron_variant ORCA-IN 16 87393921 87393921 single base substitution C A 5_prime_UTR_variant ORCA-IN 16 87393921 87393921 single base substitution C A exon_variant ORCA-IN 16 87393921 87393921 single base substitution C A intron_variant ORCA-IN 16 87393921 87393921 single base substitution C A missense_variant C131F 392G>T ORCA-IN 16 87415695 87415695 single base substitution C G downstream_gene_variant ORCA-IN 16 87415695 87415695 single base substitution C G intron_variant ORCA-IN 16 87418266 87418266 single base substitution G C downstream_gene_variant ORCA-IN 16 87418266 87418266 single base substitution G C intron_variant ORCA-IN 16 87418266 87418266 single base substitution G C upstream_gene_variant ORCA-IN 16 87423269 87423269 single base substitution A C intron_variant OV-AU 16 87358938 87358938 single base substitution T A downstream_gene_variant OV-AU 16 87360004 87360004 single base substitution C G downstream_gene_variant OV-AU 16 87361293 87361293 single base substitution G A 3_prime_UTR_variant OV-AU 16 87361293 87361293 single base substitution G A downstream_gene_variant OV-AU 16 87363216 87363216 single base substitution G C 3_prime_UTR_variant OV-AU 16 87366705 87366705 single base substitution G C downstream_gene_variant OV-AU 16 87366705 87366705 single base substitution G C intron_variant OV-AU 16 87370347 87370347 single base substitution A C intron_variant OV-AU 16 87372706 87372706 single base substitution T G downstream_gene_variant OV-AU 16 87372706 87372706 single base substitution T G intron_variant OV-AU 16 87374049 87374049 single base substitution G A downstream_gene_variant OV-AU 16 87374049 87374049 single base substitution G A intron_variant OV-AU 16 87375105 87375105 single base substitution T C downstream_gene_variant OV-AU 16 87375105 87375105 single base substitution T C intron_variant OV-AU 16 87392491 87392491 single base substitution G T intron_variant OV-AU 16 87392749 87392749 single base substitution C T intron_variant OV-AU 16 87411550 87411550 single base substitution G C intron_variant OV-AU 16 87416746 87416746 single base substitution C T downstream_gene_variant OV-AU 16 87416746 87416746 single base substitution C T intron_variant OV-AU 16 87419081 87419081 single base substitution G A downstream_gene_variant OV-AU 16 87419081 87419081 single base substitution G A intron_variant OV-AU 16 87419081 87419081 single base substitution G A upstream_gene_variant OV-AU 16 87428165 87428165 single base substitution G A upstream_gene_variant PACA-AU 16 87364850 87364850 single base substitution G A 3_prime_UTR_variant PACA-AU 16 87364850 87364850 single base substitution G A downstream_gene_variant PACA-AU 16 87370023 87370035 deletion of <=200bp GGGAAGAGAAAGG - intron_variant PACA-AU 16 87370794 87370794 single base substitution G A intron_variant PACA-AU 16 87377497 87377497 single base substitution C T intron_variant PACA-AU 16 87378520 87378520 single base substitution A G intron_variant PACA-AU 16 87381047 87381047 single base substitution C A intron_variant PACA-AU 16 87381048 87381048 single base substitution C A intron_variant PACA-AU 16 87385038 87385038 single base substitution C T intron_variant PACA-AU 16 87390301 87390301 single base substitution C T intron_variant PACA-AU 16 87392040 87392040 single base substitution G A intron_variant PACA-AU 16 87392089 87392089 single base substitution C T intron_variant PACA-AU 16 87393522 87393522 single base substitution G C intron_variant PACA-AU 16 87396189 87396226 deletion of <=200bp TGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCACTGG - intron_variant PACA-AU 16 87405251 87405251 single base substitution A C intron_variant PACA-AU 16 87405251 87405251 single base substitution A C upstream_gene_variant PACA-AU 16 87411008 87411008 single base substitution C T intron_variant PACA-AU 16 87416816 87416816 single base substitution A T downstream_gene_variant PACA-AU 16 87416816 87416816 single base substitution A T intron_variant PACA-AU 16 87417924 87417924 single base substitution G T downstream_gene_variant PACA-AU 16 87417924 87417924 single base substitution G T intron_variant PACA-AU 16 87417924 87417924 single base substitution G T upstream_gene_variant PACA-AU 16 87421140 87421140 single base substitution G A intron_variant PACA-AU 16 87421140 87421140 single base substitution G A upstream_gene_variant PACA-AU 16 87423409 87423409 single base substitution C G 5_prime_UTR_variant PACA-AU 16 87423409 87423409 single base substitution C G exon_variant PACA-AU 16 87427712 87427712 deletion of <=200bp T - upstream_gene_variant PACA-CA 16 87356958 87356958 single base substitution G A downstream_gene_variant PACA-CA 16 87360307 87360307 single base substitution C A downstream_gene_variant PACA-CA 16 87365105 87365105 single base substitution G A 3_prime_UTR_variant PACA-CA 16 87365105 87365105 single base substitution G A downstream_gene_variant PACA-CA 16 87365105 87365105 single base substitution G A missense_variant T470I 1409C>T PACA-CA 16 87366298 87366298 single base substitution C T downstream_gene_variant PACA-CA 16 87366298 87366298 single base substitution C T intron_variant PACA-CA 16 87370846 87370846 single base substitution G A intron_variant PACA-CA 16 87373573 87373573 deletion of <=200bp A - downstream_gene_variant PACA-CA 16 87373573 87373573 deletion of <=200bp A - intron_variant PACA-CA 16 87374281 87374281 single base substitution C T downstream_gene_variant PACA-CA 16 87374281 87374281 single base substitution C T intron_variant PACA-CA 16 87374467 87374467 deletion of <=200bp A - downstream_gene_variant PACA-CA 16 87374467 87374467 deletion of <=200bp A - intron_variant PACA-CA 16 87375930 87375930 single base substitution G A downstream_gene_variant PACA-CA 16 87375930 87375930 single base substitution G A intron_variant PACA-CA 16 87376892 87376892 single base substitution G A downstream_gene_variant PACA-CA 16 87376892 87376892 single base substitution G A intron_variant PACA-CA 16 87378590 87378590 single base substitution G A intron_variant PACA-CA 16 87391390 87391390 single base substitution T A intron_variant PACA-CA 16 87393417 87393417 single base substitution G A intron_variant PACA-CA 16 87396242 87396242 single base substitution C A intron_variant PACA-CA 16 87400062 87400062 single base substitution G T downstream_gene_variant PACA-CA 16 87400062 87400062 single base substitution G T intron_variant PACA-CA 16 87402549 87402549 single base substitution G A intron_variant PACA-CA 16 87402549 87402549 single base substitution G A upstream_gene_variant PACA-CA 16 87407691 87407691 insertion of <=200bp - A intron_variant PACA-CA 16 87413119 87413119 insertion of <=200bp - GTTTGCCCCAG intron_variant PACA-CA 16 87414017 87414017 insertion of <=200bp - T intron_variant PACA-CA 16 87414292 87414292 single base substitution G A intron_variant PACA-CA 16 87417870 87417870 single base substitution T C downstream_gene_variant PACA-CA 16 87417870 87417870 single base substitution T C intron_variant PACA-CA 16 87417870 87417870 single base substitution T C upstream_gene_variant PACA-CA 16 87418059 87418059 single base substitution G A downstream_gene_variant PACA-CA 16 87418059 87418059 single base substitution G A intron_variant PACA-CA 16 87418059 87418059 single base substitution G A upstream_gene_variant PACA-CA 16 87420163 87420163 single base substitution C G intron_variant PACA-CA 16 87420163 87420163 single base substitution C G upstream_gene_variant PACA-CA 16 87426088 87426088 single base substitution G A upstream_gene_variant PACA-CA 16 87426597 87426597 single base substitution C T upstream_gene_variant PACA-CA 16 87427528 87427528 single base substitution G A upstream_gene_variant PACA-CA 16 87428088 87428088 single base substitution A G upstream_gene_variant PACA-CA 16 87430303 87430303 single base substitution G A upstream_gene_variant PAEN-AU 16 87371300 87371300 deletion of <=200bp C - intron_variant PAEN-AU 16 87377083 87377083 single base substitution C T downstream_gene_variant PAEN-AU 16 87377083 87377083 single base substitution C T intron_variant PAEN-AU 16 87410983 87410983 single base substitution T C intron_variant PBCA-DE 16 87365222 87365222 single base substitution A G downstream_gene_variant PBCA-DE 16 87365222 87365222 single base substitution A G intron_variant PBCA-DE 16 87378590 87378590 single base substitution G A intron_variant PBCA-DE 16 87385627 87385627 single base substitution G C intron_variant PBCA-DE 16 87396937 87396937 single base substitution C T downstream_gene_variant PBCA-DE 16 87396937 87396937 single base substitution C T intron_variant PBCA-DE 16 87401481 87401481 single base substitution C G exon_variant PBCA-DE 16 87401481 87401481 single base substitution C G intron_variant PBCA-DE 16 87401481 87401481 single base substitution C G upstream_gene_variant PBCA-DE 16 87404345 87404345 single base substitution G C intron_variant PBCA-DE 16 87404345 87404345 single base substitution G C upstream_gene_variant PBCA-DE 16 87407837 87407837 single base substitution C T intron_variant PBCA-DE 16 87420867 87420867 single base substitution G T intron_variant PBCA-DE 16 87420867 87420867 single base substitution G T upstream_gene_variant PRAD-CA 16 87366309 87366309 single base substitution C A downstream_gene_variant PRAD-CA 16 87366309 87366309 single base substitution C A intron_variant PRAD-CA 16 87378520 87378520 single base substitution A G intron_variant PRAD-UK 16 87358836 87358836 single base substitution G A downstream_gene_variant PRAD-UK 16 87364013 87364013 single base substitution G C 3_prime_UTR_variant PRAD-UK 16 87364013 87364013 single base substitution G C downstream_gene_variant PRAD-UK 16 87401326 87401326 single base substitution C T downstream_gene_variant PRAD-UK 16 87401326 87401326 single base substitution C T exon_variant PRAD-UK 16 87401326 87401326 single base substitution C T intron_variant PRAD-UK 16 87401326 87401326 single base substitution C T upstream_gene_variant PRAD-UK 16 87407655 87407655 single base substitution G A intron_variant PRAD-UK 16 87423972 87423972 single base substitution T C intron_variant PRAD-UK 16 87423972 87423972 single base substitution T C upstream_gene_variant READ-US 16 87377317 87377317 single base substitution C T downstream_gene_variant READ-US 16 87377317 87377317 single base substitution C T intron_variant READ-US 16 87377317 87377317 single base substitution C T missense_variant V10I 28G>A READ-US 16 87377317 87377317 single base substitution C T missense_variant V182I 544G>A RECA-EU 16 87367788 87367788 single base substitution G T downstream_gene_variant RECA-EU 16 87367788 87367788 single base substitution G T intron_variant RECA-EU 16 87367788 87367788 single base substitution G T synonymous_variant S367S 1101C>A RECA-EU 16 87369491 87369491 single base substitution G T intron_variant RECA-EU 16 87373544 87373544 single base substitution C G downstream_gene_variant RECA-EU 16 87373544 87373544 single base substitution C G intron_variant RECA-EU 16 87379399 87379399 single base substitution T G intron_variant RECA-EU 16 87408258 87408258 single base substitution A G intron_variant RECA-EU 16 87421093 87421093 single base substitution C A intron_variant RECA-EU 16 87421093 87421093 single base substitution C A upstream_gene_variant RECA-EU 16 87424533 87424533 single base substitution A G intron_variant RECA-EU 16 87424533 87424533 single base substitution A G upstream_gene_variant RECA-EU 16 87425819 87425819 single base substitution G A upstream_gene_variant SKCA-BR 16 87359337 87359337 single base substitution G A downstream_gene_variant SKCA-BR 16 87359505 87359505 insertion of <=200bp - AG downstream_gene_variant SKCA-BR 16 87372078 87372078 single base substitution A G intron_variant SKCA-BR 16 87373219 87373219 single base substitution A G downstream_gene_variant SKCA-BR 16 87373219 87373219 single base substitution A G intron_variant SKCA-BR 16 87373337 87373337 single base substitution A C downstream_gene_variant SKCA-BR 16 87373337 87373337 single base substitution A C intron_variant SKCA-BR 16 87374679 87374679 single base substitution G A downstream_gene_variant SKCA-BR 16 87374679 87374679 single base substitution G A intron_variant SKCA-BR 16 87374792 87374792 single base substitution G A downstream_gene_variant SKCA-BR 16 87374792 87374792 single base substitution G A intron_variant SKCA-BR 16 87379428 87379428 single base substitution A G intron_variant SKCA-BR 16 87379725 87379725 single base substitution G A intron_variant SKCA-BR 16 87385014 87385014 single base substitution G A intron_variant SKCA-BR 16 87386304 87386304 single base substitution G A intron_variant SKCA-BR 16 87386614 87386614 single base substitution T C intron_variant SKCA-BR 16 87387900 87387900 single base substitution G A intron_variant SKCA-BR 16 87389420 87389420 single base substitution G A intron_variant SKCA-BR 16 87397636 87397636 single base substitution T G downstream_gene_variant SKCA-BR 16 87397636 87397636 single base substitution T G intron_variant SKCA-BR 16 87398176 87398176 single base substitution G A downstream_gene_variant SKCA-BR 16 87398176 87398176 single base substitution G A intron_variant SKCA-BR 16 87398811 87398811 single base substitution T G downstream_gene_variant SKCA-BR 16 87398811 87398811 single base substitution T G intron_variant SKCA-BR 16 87400233 87400233 single base substitution G A downstream_gene_variant SKCA-BR 16 87400233 87400233 single base substitution G A intron_variant SKCA-BR 16 87404375 87404375 single base substitution T A intron_variant SKCA-BR 16 87404375 87404375 single base substitution T A upstream_gene_variant SKCA-BR 16 87405041 87405041 single base substitution G A intron_variant SKCA-BR 16 87405041 87405041 single base substitution G A upstream_gene_variant SKCA-BR 16 87405099 87405099 single base substitution A C intron_variant SKCA-BR 16 87405099 87405099 single base substitution A C upstream_gene_variant SKCA-BR 16 87406029 87406029 single base substitution G A intron_variant SKCA-BR 16 87406029 87406029 single base substitution G A upstream_gene_variant SKCA-BR 16 87411836 87411836 single base substitution G A intron_variant SKCA-BR 16 87412583 87412583 single base substitution C A intron_variant SKCA-BR 16 87413902 87413902 insertion of <=200bp - CA intron_variant SKCA-BR 16 87417414 87417414 single base substitution G A downstream_gene_variant SKCA-BR 16 87417414 87417414 single base substitution G A intron_variant SKCA-BR 16 87417414 87417414 single base substitution G A upstream_gene_variant SKCA-BR 16 87417452 87417452 single base substitution C T downstream_gene_variant SKCA-BR 16 87417452 87417452 single base substitution C T intron_variant SKCA-BR 16 87417452 87417452 single base substitution C T upstream_gene_variant SKCA-BR 16 87417511 87417511 single base substitution C T downstream_gene_variant SKCA-BR 16 87417511 87417511 single base substitution C T intron_variant SKCA-BR 16 87417511 87417511 single base substitution C T upstream_gene_variant SKCA-BR 16 87418570 87418570 single base substitution C T downstream_gene_variant SKCA-BR 16 87418570 87418570 single base substitution C T intron_variant SKCA-BR 16 87418570 87418570 single base substitution C T upstream_gene_variant SKCA-BR 16 87418616 87418620 deletion of <=200bp TCAAA - downstream_gene_variant SKCA-BR 16 87418616 87418620 deletion of <=200bp TCAAA - intron_variant SKCA-BR 16 87418616 87418620 deletion of <=200bp TCAAA - upstream_gene_variant SKCA-BR 16 87419108 87419108 insertion of <=200bp - ATCTG downstream_gene_variant SKCA-BR 16 87419108 87419108 insertion of <=200bp - ATCTG intron_variant SKCA-BR 16 87419108 87419108 insertion of <=200bp - ATCTG upstream_gene_variant SKCA-BR 16 87419751 87419751 single base substitution A T exon_variant SKCA-BR 16 87419751 87419751 single base substitution A T intron_variant SKCA-BR 16 87419751 87419751 single base substitution A T upstream_gene_variant SKCA-BR 16 87419751 87419752 deletion of <=200bp AC - exon_variant SKCA-BR 16 87419751 87419752 deletion of <=200bp AC - intron_variant SKCA-BR 16 87419751 87419752 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 16 87421898 87421898 single base substitution G A intron_variant SKCA-BR 16 87421898 87421898 single base substitution G A upstream_gene_variant SKCA-BR 16 87421923 87421923 single base substitution C G intron_variant SKCA-BR 16 87421923 87421923 single base substitution C G upstream_gene_variant SKCA-BR 16 87425118 87425118 single base substitution A G intron_variant SKCA-BR 16 87425118 87425118 single base substitution A G upstream_gene_variant SKCA-BR 16 87425754 87425754 single base substitution G A upstream_gene_variant SKCA-BR 16 87425764 87425764 single base substitution C T upstream_gene_variant SKCM-US 16 87364906 87364906 single base substitution G A 3_prime_UTR_variant SKCM-US 16 87364906 87364906 single base substitution G A downstream_gene_variant SKCM-US 16 87364906 87364906 single base substitution G A synonymous_variant S536S 1608C>T SKCM-US 16 87367551 87367551 single base substitution G A 3_prime_UTR_variant SKCM-US 16 87367551 87367551 single base substitution G A downstream_gene_variant SKCM-US 16 87367551 87367551 single base substitution G A synonymous_variant F446F 1338C>T SKCM-US 16 87367562 87367562 single base substitution C T 3_prime_UTR_variant SKCM-US 16 87367562 87367562 single base substitution C T downstream_gene_variant SKCM-US 16 87367562 87367562 single base substitution C T missense_variant G443R 1327G>A SKCM-US 16 87367779 87367779 single base substitution G A downstream_gene_variant SKCM-US 16 87367779 87367779 single base substitution G A intron_variant SKCM-US 16 87367779 87367779 single base substitution G A synonymous_variant V370V 1110C>T SKCM-US 16 87367807 87367807 single base substitution C T downstream_gene_variant SKCM-US 16 87367807 87367807 single base substitution C T intron_variant SKCM-US 16 87367807 87367807 single base substitution C T missense_variant R361H 1082G>A SKCM-US 16 87377322 87377322 single base substitution G A downstream_gene_variant SKCM-US 16 87377322 87377322 single base substitution G A intron_variant SKCM-US 16 87377322 87377322 single base substitution G A missense_variant P180L 539C>T SKCM-US 16 87377322 87377322 single base substitution G A missense_variant P8L 23C>T SKCM-US 16 87417077 87417077 single base substitution G A downstream_gene_variant SKCM-US 16 87417077 87417077 single base substitution G A exon_variant SKCM-US 16 87417077 87417077 single base substitution G A intron_variant SKCM-US 16 87417077 87417077 single base substitution G A stop_gained Q92* 274C>T STAD-US 16 87364948 87364948 single base substitution C T 3_prime_UTR_variant STAD-US 16 87364948 87364948 single base substitution C T downstream_gene_variant STAD-US 16 87364948 87364948 single base substitution C T synonymous_variant P522P 1566G>A STAD-US 16 87367566 87367566 single base substitution C T 3_prime_UTR_variant STAD-US 16 87367566 87367566 single base substitution C T downstream_gene_variant STAD-US 16 87367566 87367566 single base substitution C T synonymous_variant G441G 1323G>A STAD-US 16 87367837 87367837 single base substitution C T downstream_gene_variant STAD-US 16 87367837 87367837 single base substitution C T intron_variant STAD-US 16 87367837 87367837 single base substitution C T missense_variant R351Q 1052G>A STAD-US 16 87369022 87369022 single base substitution C T intron_variant STAD-US 16 87369022 87369022 single base substitution C T missense_variant R123H 368G>A STAD-US 16 87369022 87369022 single base substitution C T missense_variant R295H 884G>A STAD-US 16 87369863 87369863 single base substitution C T intron_variant STAD-US 16 87369863 87369863 single base substitution C T missense_variant R247Q 740G>A STAD-US 16 87369863 87369863 single base substitution C T missense_variant R75Q 224G>A STAD-US 16 87376516 87376516 single base substitution C T downstream_gene_variant STAD-US 16 87376516 87376516 single base substitution C T intron_variant STAD-US 16 87376516 87376516 single base substitution C T synonymous_variant T233T 699G>A STAD-US 16 87376516 87376516 single base substitution C T synonymous_variant T61T 183G>A STAD-US 16 87377307 87377307 single base substitution G C downstream_gene_variant STAD-US 16 87377307 87377307 single base substitution G C intron_variant STAD-US 16 87377307 87377307 single base substitution G C missense_variant P13R 38C>G STAD-US 16 87377307 87377307 single base substitution G C missense_variant P185R 554C>G STAD-US 16 87380856 87380856 single base substitution A G intron_variant STAD-US 16 87380856 87380856 single base substitution A G missense_variant L138P 413T>C STAD-US 16 87380856 87380856 single base substitution A G splice_region_variant STAD-US 16 87393913 87393913 single base substitution C T 5_prime_UTR_variant STAD-US 16 87393913 87393913 single base substitution C T exon_variant STAD-US 16 87393913 87393913 single base substitution C T intron_variant STAD-US 16 87393913 87393913 single base substitution C T missense_variant V134I 400G>A STAD-US 16 87393948 87393948 single base substitution C T 5_prime_UTR_variant STAD-US 16 87393948 87393948 single base substitution C T exon_variant STAD-US 16 87393948 87393948 single base substitution C T intron_variant STAD-US 16 87393948 87393948 single base substitution C T missense_variant R122Q 365G>A THCA-SA 16 87364650 87364650 single base substitution T C 3_prime_UTR_variant THCA-SA 16 87364650 87364650 single base substitution T C downstream_gene_variant UCEC-US 16 87364778 87364778 single base substitution C T 3_prime_UTR_variant UCEC-US 16 87364778 87364778 single base substitution C T downstream_gene_variant UCEC-US 16 87365085 87365085 single base substitution C T 3_prime_UTR_variant UCEC-US 16 87365085 87365085 single base substitution C T downstream_gene_variant UCEC-US 16 87365085 87365085 single base substitution C T missense_variant G477S 1429G>A UCEC-US 16 87367618 87367618 single base substitution C T downstream_gene_variant UCEC-US 16 87367618 87367618 single base substitution C T exon_variant UCEC-US 16 87367618 87367618 single base substitution C T missense_variant G424D 1271G>A UCEC-US 16 87367634 87367634 single base substitution T C downstream_gene_variant UCEC-US 16 87367634 87367634 single base substitution T C exon_variant UCEC-US 16 87367634 87367634 single base substitution T C missense_variant T419A 1255A>G UCEC-US 16 87367807 87367807 single base substitution C T downstream_gene_variant UCEC-US 16 87367807 87367807 single base substitution C T intron_variant UCEC-US 16 87367807 87367807 single base substitution C T missense_variant R361H 1082G>A UCEC-US 16 87369014 87369014 single base substitution C T intron_variant UCEC-US 16 87369014 87369014 single base substitution C T missense_variant D126N 376G>A UCEC-US 16 87369014 87369014 single base substitution C T missense_variant D298N 892G>A UCEC-US 16 87376495 87376495 single base substitution G A downstream_gene_variant UCEC-US 16 87376495 87376495 single base substitution G A intron_variant UCEC-US 16 87376495 87376495 single base substitution G A synonymous_variant G240G 720C>T UCEC-US 16 87376495 87376495 single base substitution G A synonymous_variant G68G 204C>T UCEC-US 16 87376498 87376498 single base substitution G A downstream_gene_variant UCEC-US 16 87376498 87376498 single base substitution G A intron_variant UCEC-US 16 87376498 87376498 single base substitution G A synonymous_variant S239S 717C>T UCEC-US 16 87376498 87376498 single base substitution G A synonymous_variant S67S 201C>T UCEC-US 16 87377236 87377236 single base substitution C T downstream_gene_variant UCEC-US 16 87377236 87377236 single base substitution C T intron_variant UCEC-US 16 87377236 87377236 single base substitution C T missense_variant G209S 625G>A UCEC-US 16 87377236 87377236 single base substitution C T missense_variant G37S 109G>A UCEC-US 16 87377315 87377315 single base substitution G A downstream_gene_variant UCEC-US 16 87377315 87377315 single base substitution G A intron_variant UCEC-US 16 87377315 87377315 single base substitution G A synonymous_variant V10V 30C>T UCEC-US 16 87377315 87377315 single base substitution G A synonymous_variant V182V 546C>T UCEC-US 16 87377351 87377351 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 16 87377351 87377351 single base substitution G A downstream_gene_variant UCEC-US 16 87377351 87377351 single base substitution G A intron_variant UCEC-US 16 87377351 87377351 single base substitution G A synonymous_variant I170I 510C>T UCEC-US 16 87380857 87380857 single base substitution C A intron_variant UCEC-US 16 87380857 87380857 single base substitution C A splice_acceptor_variant UCEC-US 16 87393905 87393905 single base substitution C T 5_prime_UTR_variant UCEC-US 16 87393905 87393905 single base substitution C T exon_variant UCEC-US 16 87393905 87393905 single base substitution C T intron_variant UCEC-US 16 87393905 87393905 single base substitution C T synonymous_variant A136A 408G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-47-T COSM4461094 c.676C>G p.R226G Substitution - Missense 16:87334091-87334091 - T3498 COSM4683963 c.1210C>T p.P404S Substitution - Missense 16:87334073-87334073 - C0041T COSM4422771 c.585C>A p.S195S Substitution - coding silent 16:87334182-87334182 - TCGA-HU-A4GX-01 COSM1380307 c.365G>A p.R122Q Substitution - Missense 16:87360342-87360342 - TCGA-HQ-A2OE-01 COSM1302321 c.1025C>T p.A342V Substitution - Missense 16:87331367-87331367 - TCGA-AP-A051-01 COSM974599 c.413-1G>T p.? Unknown 16:87347251-87347251 - J90_T COSM3957895 c.408G>T p.A136A Substitution - coding silent 16:87360299-87360299 - I2L-P7-Tumor-Organoid COSM5363767 c.389C>A p.P130H Substitution - Missense 16:87335395-87335395 - B89-12-Tumor COSM1749817 c.298A>T p.M100L Substitution - Missense 16:87336183-87336183 - TCGA-BS-A0UM-01 COSM974592 c.717C>T p.S239S Substitution - coding silent 16:87342892-87342892 - TCGA-AP-A0LM-01 COSM974587 c.739A>G p.T247A Substitution - Missense 16:87334028-87334028 - LUAD-B02077 COSM335048 c.442A>G p.S148G Substitution - Missense 16:87335342-87335342 - T3174 COSM197535 c.1051C>T p.R351W Substitution - Missense 16:87334232-87334232 - T3094 COSM4683975 c.739C>T p.R247W Substitution - Missense 16:87336258-87336258 - TCGA-G4-6302-01 COSM3691234 c.394C>T p.R132W Substitution - Missense 16:87360313-87360313 - TCGA-EE-A3J7-06 COSM244472 c.1082G>A p.R361H Substitution - Missense 16:87334201-87334201 - TCGA-CK-5916-01 COSM3691233 c.412+1G>A p.? Unknown 16:87360294-87360294 - PTC-14C COSM4129457 c.265A>C p.I89L Substitution - Missense 16:87336216-87336216 - CSCC-44-T COSM4552036 c.547G>A p.D183N Substitution - Missense 16:87343708-87343708 - OSCC-GB_00410111 COSM3718505 c.392G>T p.C131F Substitution - Missense 16:87360315-87360315 - PR-00-1165 COSM244472 c.1082G>A p.R361H Substitution - Missense 16:87334201-87334201 - TCGA-AP-A0LT-01 COSM974585 c.755G>A p.G252D Substitution - Missense 16:87334012-87334012 - QC2-03-T2 COSM5651814 c.1049C>T p.P350L Substitution - Missense 16:87331343-87331343 - TCGA-AZ-6601-01 COSM1380307 c.365G>A p.R122Q Substitution - Missense 16:87360342-87360342 - TCGA-FU-A40J-01 COSM4843922 c.1077C>T p.L359L Substitution - coding silent 16:87331315-87331315 - TCGA-BR-4280-01 COSM4063416 c.536G>A p.R179Q Substitution - Missense 16:87334231-87334231 - Pat_22_B COSM5851667 c.202G>A p.G68S Substitution - Missense 16:87342891-87342891 - T3152 COSM4683968 c.606C>T p.R202R Substitution - coding silent 16:87334161-87334161 - TCGA-EE-A3JA-06 COSM3513115 c.822C>T p.F274F Substitution - coding silent 16:87333945-87333945 - PASFXA COSM5005957 c.460G>A p.G154R Substitution - Missense 16:87347203-87347203 - TCGA-BR-8363-01 COSM4063417 c.884G>A p.R295H Substitution - Missense 16:87335416-87335416 - Pat_41_B COSM5851668 c.484G>A p.V162M Substitution - Missense 16:87347179-87347179 - TCGA-16-1045-01 COSM3402533 c.973C>T p.R325C Substitution - Missense 16:87335327-87335327 - Pat_22_B COSM5851666 c.718G>A p.G240S Substitution - Missense 16:87342891-87342891 - TCGA-A8-A09Z-01 COSM3818676 c.821T>C p.F274S Substitution - Missense 16:87336176-87336176 - TCGA-CD-5801-01 COSM290469 c.740G>A p.R247Q Substitution - Missense 16:87336257-87336257 - TCGA-HQ-A2OE-01 COSM1302320 c.1541C>T p.A514V Substitution - Missense 16:87331367-87331367 - TCGA-AP-A0LM-01 COSM974600 c.408G>A p.A136A Substitution - coding silent 16:87360299-87360299 - T3498 COSM4683964 c.694C>T p.P232S Substitution - Missense 16:87334073-87334073 - TCGA-BS-A0UM-01 COSM974593 c.201C>T p.S67S Substitution - coding silent 16:87342892-87342892 - LUAD-YINHD COSM349267 c.367C>T p.R123C Substitution - Missense 16:87335417-87335417 - TCGA-BS-A0TJ-01 COSM244472 c.1082G>A p.R361H Substitution - Missense 16:87334201-87334201 - 41T COSM3718505 c.392G>T p.C131F Substitution - Missense 16:87360315-87360315 - TCGA-F4-6856-01 COSM1380301 c.1121G>A p.R374H Substitution - Missense 16:87334162-87334162 - TCGA-A5-A0VQ-01 COSM974591 c.204C>T p.G68G Substitution - coding silent 16:87342889-87342889 - C0041T COSM4422770 c.1101C>A p.S367S Substitution - coding silent 16:87334182-87334182 - sysucc-1397T COSM5473808 c.707G>T p.R236M Substitution - Missense 16:87334060-87334060 - CSCC-40-T COSM4529224 c.1596G>A p.K532K Substitution - coding silent 16:87331312-87331312 - TCGA-36-1575-01 COSM117471 c.343T>C p.Y115H Substitution - Missense 16:87360364-87360364 - ESO-075 COSM1252267 c.67C>T p.H23Y Substitution - Missense 16:87343672-87343672 - 2203 COSM144423 c.658C>T p.R220C Substitution - Missense 16:87334109-87334109 - T2197 COSM4683960 c.931C>T p.R311C Substitution - Missense 16:87331461-87331461 - sysucc-783T COSM5484061 c.1096C>T p.L366F Substitution - Missense 16:87334187-87334187 - T3152 COSM4683967 c.1122C>T p.R374R Substitution - coding silent 16:87334161-87334161 - TCGA-12-1597-01 COSM3402531 c.1051C>G p.R351G Substitution - Missense 16:87334232-87334232 - TCGA-CG-4438-01 COSM4063421 c.554C>G p.P185R Substitution - Missense 16:87343701-87343701 - LUAD-B00859 COSM332278 c.1316A>T p.Q439L Substitution - Missense 16:87333967-87333967 - TCGA-A5-A0VQ-01 COSM974590 c.720C>T p.G240G Substitution - coding silent 16:87342889-87342889 - CSCC-62-T COSM4501189 c.66C>T p.I22I Substitution - coding silent 16:87343673-87343673 - 11 COSM1380301 c.1121G>A p.R374H Substitution - Missense 16:87334162-87334162 - TCGA-BS-A0UV-01 COSM974596 c.546C>T p.V182V Substitution - coding silent 16:87343709-87343709 - TCGA-AP-A0LM-01 COSM974586 c.1255A>G p.T419A Substitution - Missense 16:87334028-87334028 - PT49 COSM5936206 c.1361C>T p.S454F Substitution - Missense 16:87333922-87333922 - sysucc-783T COSM1206826 c.347G>A p.R116H Substitution - Missense 16:87335437-87335437 - ESO-075 COSM1252266 c.583C>T p.H195Y Substitution - Missense 16:87343672-87343672 - C086 COSM5531111 c.291C>T p.L97L Substitution - coding silent 16:87336190-87336190 - B98 COSM704494 c.829C>T p.P277S Substitution - Missense 16:87333938-87333938 - BD114T COSM5504229 c.624C>T p.Y208Y Substitution - coding silent 16:87343631-87343631 - ESO-708 COSM1252269 c.77A>G p.E26G Substitution - Missense 16:87343662-87343662 - B98 COSM704493 c.1345C>T p.P449S Substitution - Missense 16:87333938-87333938 - TCGA-EE-A3JA-06 COSM3513114 c.1338C>T p.F446F Substitution - coding silent 16:87333945-87333945 - Gp5D COSM2921685 c.421C>T p.R141* Substitution - Nonsense 16:87347242-87347242 - TCGA-AP-A0LM-01 COSM974589 c.376G>A p.D126N Substitution - Missense 16:87335408-87335408 - TCGA-A6-6781-01 COSM1380304 c.420C>T p.H140H Substitution - coding silent 16:87335364-87335364 - ESCC_BICR_041T COSM5441266 c.984C>T p.G328G Substitution - coding silent 16:87335316-87335316 - 2203 COSM144424 c.1174C>T p.R392C Substitution - Missense 16:87334109-87334109 - T3603 COSM4683971 c.966C>T p.H322H Substitution - coding silent 16:87335334-87335334 - P146 COSM1737169 c.1364G>A p.R455K Substitution - Missense 16:87333919-87333919 - CSCC-27-T COSM4503367 c.122C>T p.P41L Substitution - Missense 16:87343617-87343617 - PDA_010 COSM4998402 c.697G>T p.A233S Substitution - Missense 16:87334070-87334070 - B89-12-Tumor COSM1749816 c.814A>T p.M272L Substitution - Missense 16:87336183-87336183 - LUAD-RT-S01813 COSM383171 c.524A>G p.D175G Substitution - Missense 16:87334243-87334243 - C086 COSM5531110 c.807C>T p.L269L Substitution - coding silent 16:87336190-87336190 - ME002T COSM222329 c.246G>A p.W82* Substitution - Nonsense 16:87336235-87336235 - ESCC_120 COSM704492 c.604C>T p.R202C Substitution - Missense 16:87334163-87334163 - TCGA-BS-A0UV-01 COSM974597 c.30C>T p.V10V Substitution - coding silent 16:87343709-87343709 - S00050 COSM5657084 c.674A>T p.E225V Substitution - Missense 16:87342935-87342935 - CSCC-47-T COSM4461093 c.1192C>G p.R398G Substitution - Missense 16:87334091-87334091 - I2L-P7-Tumor-Organoid COSM5363766 c.905C>A p.P302H Substitution - Missense 16:87335395-87335395 - TCGA-BR-8363-01 COSM4063418 c.368G>A p.R123H Substitution - Missense 16:87335416-87335416 - ME002T COSM222330 c.762G>A p.W254* Substitution - Nonsense 16:87336235-87336235 - S02243 COSM5677715 c.132C>G p.I44M Substitution - Missense 16:87383613-87383613 - TCGA-D1-A103-01 COSM974594 c.625G>A p.G209S Substitution - Missense 16:87343630-87343630 - PTC-14C COSM4129459 c.261G>C p.E87D Substitution - Missense 16:87336220-87336220 - TCGA-ER-A199-06 COSM3356871 c.1608C>T p.S536S Substitution - coding silent 16:87331300-87331300 - TCGA-A6-6781-01 COSM1380303 c.936C>T p.H312H Substitution - coding silent 16:87335364-87335364 - T3174 COSM197534 c.535C>T p.R179W Substitution - Missense 16:87334232-87334232 - CRC-02T COSM1380307 c.365G>A p.R122Q Substitution - Missense 16:87360342-87360342 - TCGA-BS-A0TJ-01 COSM244471 c.566G>A p.R189H Substitution - Missense 16:87334201-87334201 - T3094 COSM4683976 c.223C>T p.R75W Substitution - Missense 16:87336258-87336258 - YULAN COSM1709490 c.346C>T p.R116C Substitution - Missense 16:87335438-87335438 - TCGA-BR-8368-01 COSM4063420 c.183G>A p.T61T Substitution - coding silent 16:87342910-87342910 - ESCC_120 COSM704491 c.1120C>T p.R374C Substitution - Missense 16:87334163-87334163 - 587336 COSM1206826 c.347G>A p.R116H Substitution - Missense 16:87335437-87335437 - CSCC-40-T COSM4529225 c.1080G>A p.K360K Substitution - coding silent 16:87331312-87331312 - TCGA-G2-A3VY-01 COSM3795199 c.1504G>C p.E502Q Substitution - Missense 16:87331404-87331404 - TCGA-BG-A0MQ-01 COSM974583 c.913G>A p.G305S Substitution - Missense 16:87331479-87331479 - TCGA-AP-A0LT-01 COSM974584 c.1271G>A p.G424D Substitution - Missense 16:87334012-87334012 - TCGA-12-1597-01 COSM3402532 c.535C>G p.R179G Substitution - Missense 16:87334232-87334232 - TCGA-HU-A4G8-01 COSM4063424 c.400G>A p.V134I Substitution - Missense 16:87360307-87360307 - ATL001 COSM5706260 c.178C>T p.Q60* Substitution - Nonsense 16:87342915-87342915 - TCGA-CG-4438-01 COSM4063422 c.38C>G p.P13R Substitution - Missense 16:87343701-87343701 - TCGA-BR-4280-01 COSM4063415 c.1052G>A p.R351Q Substitution - Missense 16:87334231-87334231 - QC2-03-T2 COSM5651813 c.1565C>T p.P522L Substitution - Missense 16:87331343-87331343 - YUQUEST COSM5385517 c.681C>T p.S227S Substitution - coding silent 16:87342928-87342928 - TCGA-FU-A40J-01 COSM4843921 c.1593C>T p.L531L Substitution - coding silent 16:87331315-87331315 - LUAD-RT-S01702 COSM379121 c.24C>T p.P8P Substitution - coding silent 16:87343715-87343715 - YULAN COSM1709489 c.862C>T p.R288C Substitution - Missense 16:87335438-87335438 - T2420 COSM4683957 c.1616_1618delCCT p.S539delS Deletion - In frame 16:87331290-87331292 - ME030T COSM227130 c.347G>A p.G116D Substitution - Missense 16:87360360-87360360 - TCGA-DA-A1I0-06 COSM3513119 c.594C>T p.V198V Substitution - coding silent 16:87334173-87334173 - TCGA-BF-A3DN-01 COSM4898991 c.274C>T p.Q92* Substitution - Nonsense 16:87383471-87383471 - HCC062T COSM5820754 c.1474G>T p.D492Y Substitution - Missense 16:87331434-87331434 - 103T COSM1237781 c.982G>A p.G328S Substitution - Missense 16:87335318-87335318 - T3724 COSM4683969 c.996+2T>C p.? Unknown 16:87335302-87335302 - PCSI_0613_Pa_P_526 COSM5760710 c.893C>T p.T298I Substitution - Missense 16:87331499-87331499 - B89-12 COSM1749817 c.298A>T p.M100L Substitution - Missense 16:87336183-87336183 - YUMER COSM1709492 c.1A>C p.M1L Substitution - Missense 16:87343738-87343738 - D7 COSM5007676 c.1066G>A p.D356N Substitution - Missense 16:87331326-87331326 - KM12 COSM2921660 c.695C>T p.P232L Substitution - Missense 16:87334072-87334072 - CSCC-44-T COSM4468933 c.1570C>T p.P524S Substitution - Missense 16:87331338-87331338 - T2197 COSM4683959 c.1447C>T p.R483C Substitution - Missense 16:87331461-87331461 - T3610 COSM4683965 c.1153G>A p.G385R Substitution - Missense 16:87334130-87334130 - CSCC-62-T COSM4501188 c.582C>T p.I194I Substitution - coding silent 16:87343673-87343673 - RKO COSM2921674 c.416G>A p.S139N Substitution - Missense 16:87335368-87335368 - B89-12 COSM1749816 c.814A>T p.M272L Substitution - Missense 16:87336183-87336183 - TCGA-DA-A1I0-06 COSM3513118 c.1110C>T p.V370V Substitution - coding silent 16:87334173-87334173 - S00050 COSM5657085 c.158A>T p.E53V Substitution - Missense 16:87342935-87342935 - HCC062T COSM5820755 c.958G>T p.D320Y Substitution - Missense 16:87331434-87331434 - TCGA-AP-A0LM-01 COSM974598 c.510C>T p.I170I Substitution - coding silent 16:87343745-87343745 - TCGA-BG-A0MQ-01 COSM974582 c.1429G>A p.G477S Substitution - Missense 16:87331479-87331479 - TCGA-16-1045-01 COSM3402534 c.457C>T p.R153C Substitution - Missense 16:87335327-87335327 - LUAD-B02077 COSM335047 c.958A>G p.S320G Substitution - Missense 16:87335342-87335342 - TCGA-G4-6586-01 COSM1380299 c.1318T>C p.C440R Substitution - Missense 16:87333965-87333965 - S09-2518-TP COSM4990903 c.665G>A p.R222Q Substitution - Missense 16:87334102-87334102 - TCGA-EI-6882-01 COSM3421216 c.544G>A p.V182I Substitution - Missense 16:87343711-87343711 - TCGA-66-2783-01 COSM704491 c.1120C>T p.R374C Substitution - Missense 16:87334163-87334163 - CHEWS017 COSM4579349 c.1105A>G p.I369V Substitution - Missense 16:87334178-87334178 - Gp5D COSM2921646 c.960T>C p.D320D Substitution - coding silent 16:87331432-87331432 - CSCC-44-T COSM4468934 c.1054C>T p.P352S Substitution - Missense 16:87331338-87331338 - NCI-H2126 COSM22084 c.315C>T p.T105T Substitution - coding silent 16:87336166-87336166 - 11 COSM1380302 c.605G>A p.R202H Substitution - Missense 16:87334162-87334162 - TCGA-D3-A2JP-06 COSM3513116 c.1327G>A p.G443R Substitution - Missense 16:87333956-87333956 - PDA_010 COSM4998401 c.1213G>T p.A405S Substitution - Missense 16:87334070-87334070 - TCGA-G4-6323-01 COSM1380304 c.420C>T p.H140H Substitution - coding silent 16:87335364-87335364 - ESCC_BICR_041T COSM5441267 c.468C>T p.G156G Substitution - coding silent 16:87335316-87335316 - UM-SCC-47 COSM4600204 c.383G>A p.G128D Substitution - Missense 16:87360324-87360324 - LUAD-B00859 COSM332279 c.800A>T p.Q267L Substitution - Missense 16:87333967-87333967 - EOPC-035_tumor_01 COSM5005957 c.460G>A p.G154R Substitution - Missense 16:87347203-87347203 - LUAD-RT-S01702 COSM379120 c.540C>T p.P180P Substitution - coding silent 16:87343715-87343715 - TCGA-G2-A3VY-01 COSM3795200 c.988G>C p.E330Q Substitution - Missense 16:87331404-87331404 - YUMER COSM1709491 c.517A>C p.M173L Substitution - Missense 16:87343738-87343738 - TCGA-D3-A2JP-06 COSM3513117 c.811G>A p.G271R Substitution - Missense 16:87333956-87333956 - PTC-14C COSM4129456 c.781A>C p.I261L Substitution - Missense 16:87336216-87336216 - RKO COSM2921673 c.932G>A p.S311N Substitution - Missense 16:87335368-87335368 - TCGA-EE-A3J7-06 COSM244471 c.566G>A p.R189H Substitution - Missense 16:87334201-87334201 - 103T COSM1237782 c.466G>A p.G156S Substitution - Missense 16:87335318-87335318 - 587336 COSM1206825 c.863G>A p.R288H Substitution - Missense 16:87335437-87335437 - TCGA-ER-A199-06 COSM3356872 c.1092C>T p.S364S Substitution - coding silent 16:87331300-87331300 - T3262 COSM4683974 c.424C>A p.L142M Substitution - Missense 16:87335360-87335360 - TCGA-JW-A852-01 COSM4823684 c.718G>T p.G240C Substitution - Missense 16:87342891-87342891 - TCGA-G4-6586-01 COSM1380300 c.802T>C p.C268R Substitution - Missense 16:87333965-87333965 - P146 COSM1737170 c.848G>A p.R283K Substitution - Missense 16:87333919-87333919 - TCGA-BR-6852-01 COSM4063413 c.1323G>A p.G441G Substitution - coding silent 16:87333960-87333960 - PT49 COSM5936207 c.845C>T p.S282F Substitution - Missense 16:87333922-87333922 - T3048 COSM4683977 c.296G>A p.R99H Substitution - Missense 16:87383449-87383449 - HCC097T COSM5816552 c.433A>G p.I145V Substitution - Missense 16:87347230-87347230 - PR-01-1934 COSM244470 c.469G>A p.G157R Substitution - Missense 16:87347194-87347194 - TCGA-AP-A0LM-01 COSM974588 c.892G>A p.D298N Substitution - Missense 16:87335408-87335408 - TCGA-JW-A852-01 COSM4823685 c.202G>T p.G68C Substitution - Missense 16:87342891-87342891 - TCGA-A2-A0T5-01 COSM3818678 c.514T>G p.W172G Substitution - Missense 16:87343741-87343741 - LUAD-RT-S01813 COSM383170 c.1040A>G p.D347G Substitution - Missense 16:87334243-87334243 - CSCC-27-T COSM4515039 c.995C>T p.T332M Substitution - Missense 16:87335305-87335305 - S09-2518-TP COSM4990902 c.1181G>A p.R394Q Substitution - Missense 16:87334102-87334102 - TCGA-EI-6882-01 COSM3421217 c.28G>A p.V10I Substitution - Missense 16:87343711-87343711 - PD14435a COSM5790450 c.848G>A p.C283Y Substitution - Missense 16:87335452-87335452 - SC_9049 COSM5558681 c.480G>C p.L160L Substitution - coding silent 16:87347183-87347183 - BD57T COSM5510852 c.889G>A p.G297S Substitution - Missense 16:87331503-87331503 - sysucc-783T COSM1206825 c.863G>A p.R288H Substitution - Missense 16:87335437-87335437 - TCGA-66-2783-01 COSM704492 c.604C>T p.R202C Substitution - Missense 16:87334163-87334163 - TCGA-HU-A4GQ-01 COSM4063412 c.1050G>A p.P350P Substitution - coding silent 16:87331342-87331342 - TCGA-BR-6452-01 COSM4063423 c.413T>C p.L138P Substitution - Missense 16:87347250-87347250 - S01563 COSM5669959 c.1A>G p.M1V Substitution - Missense 16:87383744-87383744 - ESO-708 COSM1252268 c.593A>G p.E198G Substitution - Missense 16:87343662-87343662 - T3262 COSM4683973 c.940C>A p.L314M Substitution - Missense 16:87335360-87335360 - LUAD-YINHD COSM349266 c.883C>T p.R295C Substitution - Missense 16:87335417-87335417 - TCGA-BR-8368-01 COSM4063419 c.699G>A p.T233T Substitution - coding silent 16:87342910-87342910 - PTC-14C COSM4129458 c.777G>C p.E259D Substitution - Missense 16:87336220-87336220 - TCGA-F4-6856-01 COSM1380302 c.605G>A p.R202H Substitution - Missense 16:87334162-87334162 - D7 COSM5007675 c.1582G>A p.D528N Substitution - Missense 16:87331326-87331326 - TCGA-G4-6323-01 COSM1380303 c.936C>T p.H312H Substitution - coding silent 16:87335364-87335364 - T3610 COSM4683966 c.637G>A p.G213R Substitution - Missense 16:87334130-87334130 - TCGA-33-4583-01 COSM704494 c.829C>T p.P277S Substitution - Missense 16:87333938-87333938 - CSCC-27-T COSM4503366 c.638C>T p.P213L Substitution - Missense 16:87343617-87343617 - TCGA-CC-A5UE-01 COSM4933987 c.1062C>T p.A354A Substitution - coding silent 16:87331330-87331330 - sysucc-783T COSM5484062 c.580C>T p.L194F Substitution - Missense 16:87334187-87334187 - TCGA-E2-A15C-01 COSM5833201 c.866delG p.R289fs*43 Deletion - Frameshift 16:87333901-87333901 - TCGA-CD-5801-01 COSM290468 c.224G>A p.R75Q Substitution - Missense 16:87336257-87336257 - ATL001 COSM5706259 c.694C>T p.Q232* Substitution - Nonsense 16:87342915-87342915 - CHEWS017 COSM4579350 c.589A>G p.I197V Substitution - Missense 16:87334178-87334178 - T3724 COSM4683970 c.480+2T>C p.? Unknown 16:87335302-87335302 - TCGA-60-2724-01 COSM704490 c.341-2A>C p.? Unknown 16:87360368-87360368 - TCGA-BR-6852-01 COSM4063414 c.807G>A p.G269G Substitution - coding silent 16:87333960-87333960 - TCGA-33-4583-01 COSM704493 c.1345C>T p.P449S Substitution - Missense 16:87333938-87333938 - TCGA-AG-3725-01 COSM5066796 c.383G>T p.G128V Substitution - Missense 16:87360324-87360324 - Gp5D COSM2921645 c.1476T>C p.D492D Substitution - coding silent 16:87331432-87331432 - TCGA-FW-A3R5-06 COSM3889109 c.539C>T p.P180L Substitution - Missense 16:87343716-87343716 - PD14435a COSM5790451 c.332G>A p.C111Y Substitution - Missense 16:87335452-87335452 - TCGA-CC-A5UE-01 COSM4933986 c.1578C>T p.A526A Substitution - coding silent 16:87331330-87331330 - T3603 COSM4683972 c.450C>T p.H150H Substitution - coding silent 16:87335334-87335334 - sysucc-1397T COSM5473807 c.1223G>T p.R408M Substitution - Missense 16:87334060-87334060 - T2420 COSM4683958 c.1100_1102delCCT p.S367delS Deletion - In frame 16:87331290-87331292 - BD114T COSM5504230 c.108C>T p.Y36Y Substitution - coding silent 16:87343631-87343631 - PR-00-1165 COSM244471 c.566G>A p.R189H Substitution - Missense 16:87334201-87334201 - TCGA-D1-A103-01 COSM974595 c.109G>A p.G37S Substitution - Missense 16:87343630-87343630 - CSCC-27-T COSM4515040 c.479C>T p.T160M Substitution - Missense 16:87335305-87335305 - TCGA-FW-A3R5-06 COSM3889110 c.23C>T p.P8L Substitution - Missense 16:87343716-87343716 - tumor_4188900 COSM3356871 c.1608C>T p.S536S Substitution - coding silent 16:87331300-87331300 - KM12 COSM2921659 c.1211C>T p.P404L Substitution - Missense 16:87334072-87334072 - tumor_4188900 COSM3356872 c.1092C>T p.S364S Substitution - coding silent 16:87331300-87331300 - YUQUEST COSM5385518 c.165C>T p.S55S Substitution - coding silent 16:87342928-87342928 - TCGA-AG-A026-01 COSM290468 c.224G>A p.R75Q Substitution - Missense 16:87336257-87336257 - CSCC-44-T COSM4552037 c.31G>A p.D11N Substitution - Missense 16:87343708-87343708 - TCGA-HU-A4GQ-01 COSM4063411 c.1566G>A p.P522P Substitution - coding silent 16:87331342-87331342 - TCGA-E2-A15C-01 COSM5833200 c.1382delG p.R461fs*43 Deletion - Frameshift 16:87333901-87333901 - BD57T COSM5510851 c.1405G>A p.G469S Substitution - Missense 16:87331503-87331503 - T3202 COSM4683961 c.1275C>T p.G425G Substitution - coding silent 16:87334008-87334008 - T3202 COSM4683962 c.759C>T p.G253G Substitution - coding silent 16:87334008-87334008 - PCSI_0613_Pa_P_526 COSM5760709 c.1409C>T p.T470I Substitution - Missense 16:87331499-87331499 - TCGA-A8-A09Z-01 COSM3818677 c.305T>C p.F102S Substitution - Missense 16:87336176-87336176 - TCGA-AG-A026-01 COSM290469 c.740G>A p.R247Q Substitution - Missense 16:87336257-87336257 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.567581;Hs.567582 16q24.2 609102

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.F188L c.562T>C 16 87377299 LUAD A G Missense p.Y115H c.343T>C 16 87393970 OV C A Missense p.G241W c.721G>T 16 87376494 HNSC C T Missense p.G116D c.347G>A 16 87393966 CM C T Missense p.G421S c.1261G>A 16 87367628 HNSC C T Missense p.G424D c.1271G>A 16 87367618 UCEC C T Missense p.G443R c.1327G>A 16 87367562 CM C T Missense p.G477S c.1429G>A 16 87365085 UCEC C T Missense p.R247Q c.740G>A 16 87369863 COREAD C T Missense p.R247Q c.740G>A 16 87369863 STAD C T Missense p.R351Q c.1052G>A 16 87367837 STAD C T Missense p.R361H c.1082G>A 16 87367807 CM C T Missense p.R361H c.1082G>A 16 87367807 UCEC C T Nonsense p.W254* c.762G>A 16 87369841 CM G A Missense p.A514V c.1541C>T 16 87364973 BLCA G A Missense p.H195Y c.583C>T 16 87377278 ESCA G A Missense p.P449S c.1345C>T 16 87367544 LUSC G A Missense p.R325C c.973C>T 16 87368933 GBM G A Missense p.R374C c.1120C>T 16 87367769 LUSC G A Nonsense p.Q92* c.274C>T 16 87417077 CM G A Synonymous p.G240G c.720C>T 16 87376495 UCEC G C Missense p.I275M c.825C>G 16 87369778 HNSC G C Missense p.L503V c.1507C>G 16 87365007 HNSC G C Missense p.P185R c.554C>G 16 87377307 STAD G C Missense p.R351G c.1051C>G 16 87367838 GBM T C Missense p.E198G c.593A>G 16 87377268 ESCA T G SpliceAcceptorSNV . c.341-2A>C 16 87393974 LUSC