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 1 897011 897011 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr1:897011G>A c.370G>A c.(370-372)Gag>Aag p.E124K BLCA 1 897016 897016 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 g.chr1:897016G>A c.375G>A c.(373-375)atG>atA p.M125I BLCA 1 898615 898615 + Missense_Mutation SNP G G T TCGA-BL-A5ZZ-01A-31D-A30E-08 TCGA-BL-A5ZZ-10A-01D-A30H-08 g.chr1:898615G>T c.1169G>T c.(1168-1170)cGg>cTg p.R390L BLCA 1 898782 898782 + Missense_Mutation SNP C C G TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr1:898782C>G c.1253C>G c.(1252-1254)cCg>cGg p.P418R BLCA 1 899304 899304 + Missense_Mutation SNP G G C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr1:899304G>C c.1360G>C c.(1360-1362)Gaa>Caa p.E454Q BLCA 1 899321 899321 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr1:899321G>A c.1377G>A c.(1375-1377)ctG>ctA p.L459L BLCA 1 900368 900368 + Missense_Mutation SNP G G T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr1:900368G>T c.1726G>T c.(1726-1728)Gac>Tac p.D576Y BLCA 1 900517 900517 + Silent SNP C C T TCGA-DK-AA6M-01A-11D-A391-08 TCGA-DK-AA6M-10A-01D-A394-08 g.chr1:900517C>T c.1875C>T c.(1873-1875)ctC>ctT p.L625L BRCA 1 897038 897038 + Missense_Mutation SNP G G A TCGA-D8-A1XM-01A-21D-A14K-09 TCGA-D8-A1XM-10A-01D-A14K-09 g.chr1:897038G>A c.397G>A c.(397-399)Gtg>Atg p.V133M BRCA 1 897821 897821 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr1:897821C>T c.798C>T c.(796-798)gaC>gaT p.D266D BRCA 1 899384 899384 + Silent SNP G G A TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 g.chr1:899384G>A c.1440G>A c.(1438-1440)acG>acA p.T480T BRCA 1 900505 900505 + Silent SNP G G C TCGA-A7-A3J0-01A-11D-A20S-09 TCGA-A7-A3J0-10A-01D-A20S-09 g.chr1:900505G>C c.1863G>C c.(1861-1863)gtG>gtC p.V621V CESC 1 897278 897278 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:897278C>T c.562C>T c.(562-564)Cag>Tag p.Q188* COAD 1 898541 898541 + Silent SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:898541C>T c.1095C>T c.(1093-1095)cgC>cgT p.R365R COAD 1 899910 899942 + Splice_Site DEL GGTCCGCAGTGGGGCTGCGGGGAGGGGGGCGCG GGTCCGCAGTGGGGCTGCGGGGAGGGGGGCGCG - TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr1:899910_899942delGGTCCGCAGTGGGGCTGCGGGGAGGGGGGCGCG c.1700delGGTCCGCAGTGGGGCTGCGGGGAGGGGGGCGCG c.(1699-1701)agg>ag p.R567del COADREAD 1 898541 898541 + Silent SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:898541C>T c.1095C>T c.(1093-1095)cgC>cgT p.R365R COADREAD 1 899910 899942 + Splice_Site DEL GGTCCGCAGTGGGGCTGCGGGGAGGGGGGCGCG GGTCCGCAGTGGGGCTGCGGGGAGGGGGGCGCG - TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr1:899910_899942delGGTCCGCAGTGGGGCTGCGGGGAGGGGGGCGCG c.1700delGGTCCGCAGTGGGGCTGCGGGGAGGGGGGCGCG c.(1699-1701)agg>ag p.R567del DLBC 1 898557 898557 + Missense_Mutation SNP G G A TCGA-FA-A7DS-01A-11D-A382-10 TCGA-FA-A7DS-10A-01D-A385-10 g.chr1:898557G>A c.1111G>A c.(1111-1113)Gtg>Atg p.V371M DLBC 1 899824 899824 + Silent SNP C C T TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr1:899824C>T c.1614C>T c.(1612-1614)aaC>aaT p.N538N DLBC 1 900388 900388 + Frame_Shift_Del DEL G G - TCGA-FA-A7Q1-01A-11D-A382-10 TCGA-FA-A7Q1-10A-01D-A385-10 g.chr1:900388delG c.1746delG c.(1744-1746)gtgfs p.V582fs ESCA 1 897049 897049 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr1:897049C>T c.408C>T c.(406-408)caC>caT p.H136H ESCA 1 897819 897819 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr1:897819G>T c.796G>T c.(796-798)Gac>Tac p.D266Y ESCA 1 900526 900526 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:900526G>A c.1884G>A c.(1882-1884)ccG>ccA p.P628P GBMLGG 1 897822 897822 + Missense_Mutation SNP G G A TCGA-DU-A5TS-01A-11D-A289-08 TCGA-DU-A5TS-10A-01D-A289-08 g.chr1:897822G>A c.799G>A c.(799-801)Gtg>Atg p.V267M GBMLGG 1 898614 898614 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:898614C>T c.1168C>T c.(1168-1170)Cgg>Tgg p.R390W HNSC 1 896822 896822 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 g.chr1:896822G>A c.257G>A c.(256-258)cGc>cAc p.R86H HNSC 1 898584 898584 + Missense_Mutation SNP G G T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 g.chr1:898584G>T c.1138G>T c.(1138-1140)Gcc>Tcc p.A380S HNSC 1 899313 899313 + Missense_Mutation SNP G G A TCGA-CV-6941-01A-11D-1912-08 TCGA-CV-6941-10A-01D-1912-08 g.chr1:899313G>A c.1369G>A c.(1369-1371)Gac>Aac p.D457N HNSC 1 900538 900538 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr1:900538C>T c.1896C>T c.(1894-1896)tcC>tcT p.S632S HNSC 1 900541 900541 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr1:900541G>A c.1899G>A c.(1897-1899)ccG>ccA p.P633P KIPAN 1 897301 897302 + Missense_Mutation DNP GG GG TT TCGA-CZ-4856-01A-02D-1429-08 TCGA-CZ-4856-11A-01D-1429-08 g.chr1:897301_897302GG>TT c.585_586GG>TT c.(583-588)ctGGgt>ctTTgt p.G196C KIPAN 1 898748 898748 + Missense_Mutation SNP G G A TCGA-A4-A5Y1-01A-11D-A28G-10 TCGA-A4-A5Y1-11A-11D-A28G-10 g.chr1:898748G>A c.1219G>A c.(1219-1221)Gag>Aag p.E407K KIPAN 1 900441 900441 + Missense_Mutation SNP G G A TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr1:900441G>A c.1799G>A c.(1798-1800)aGg>aAg p.R600K KIRC 1 897301 897302 + Missense_Mutation DNP GG GG TT TCGA-CZ-4856-01A-02D-1429-08 TCGA-CZ-4856-11A-01D-1429-08 g.chr1:897301_897302GG>TT c.585_586GG>TT c.(583-588)ctGGgt>ctTTgt p.G196C KIRC 1 900441 900441 + Missense_Mutation SNP G G A TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr1:900441G>A c.1799G>A c.(1798-1800)aGg>aAg p.R600K KIRP 1 898748 898748 + Missense_Mutation SNP G G A TCGA-A4-A5Y1-01A-11D-A28G-10 TCGA-A4-A5Y1-11A-11D-A28G-10 g.chr1:898748G>A c.1219G>A c.(1219-1221)Gag>Aag p.E407K LGG 1 897822 897822 + Missense_Mutation SNP G G A TCGA-DU-A5TS-01A-11D-A289-08 TCGA-DU-A5TS-10A-01D-A289-08 g.chr1:897822G>A c.799G>A c.(799-801)Gtg>Atg p.V267M LGG 1 898614 898614 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:898614C>T c.1168C>T c.(1168-1170)Cgg>Tgg p.R390W LIHC 1 898282 898282 + Missense_Mutation SNP G G A TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr1:898282G>A c.1027G>A c.(1027-1029)Gtg>Atg p.V343M LIHC 1 899359 899359 + Missense_Mutation SNP G G T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr1:899359G>T c.1415G>T c.(1414-1416)cGg>cTg p.R472L LUAD 1 897302 897302 + Missense_Mutation SNP G G T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr1:897302G>T c.586G>T c.(586-588)Ggt>Tgt p.G196C LUAD 1 897850 897850 + Splice_Site SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr1:897850G>C c.827G>C c.(826-828)cGg>cCg p.R276P LUAD 1 898278 898278 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr1:898278G>A c.1023G>A c.(1021-1023)ggG>ggA p.G341G LUAD 1 898496 898496 + Silent SNP G G T TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr1:898496G>T c.1050G>T c.(1048-1050)ggG>ggT p.G350G LUAD 1 898548 898548 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 g.chr1:898548C>T c.1102C>T c.(1102-1104)Cgc>Tgc p.R368C LUAD 1 900406 900406 + Silent SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 g.chr1:900406C>T c.1764C>T c.(1762-1764)agC>agT p.S588S LUSC 1 898253 898253 + Missense_Mutation SNP G G A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 g.chr1:898253G>A c.998G>A c.(997-999)cGt>cAt p.R333H PAAD 1 897248 897248 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:897248C>T c.532C>T c.(532-534)Cga>Tga p.R178* PRAD 1 898630 898630 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:898630G>A c.1184G>A c.(1183-1185)gGc>gAc p.G395D SKCM 1 898516 898516 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr1:898516G>A c.1070G>A c.(1069-1071)gGa>gAa p.G357E SKCM 1 898791 898791 + Missense_Mutation SNP C C T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 g.chr1:898791C>T c.1262C>T c.(1261-1263)tCc>tTc p.S421F SKCM 1 899317 899317 + Missense_Mutation SNP C C T TCGA-ER-A19B-06A-11D-A196-08 TCGA-ER-A19B-10A-01D-A198-08 g.chr1:899317C>T c.1373C>T c.(1372-1374)cCc>cTc p.P458L SKCM 1 900523 900523 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:900523C>T c.1881C>T c.(1879-1881)ttC>ttT p.F627F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 900501 900501 single base substitution C T downstream_gene_variant BLCA-CN 1 900501 900501 single base substitution C T missense_variant A620V 1859C>T BLCA-US 1 892328 892328 single base substitution C G upstream_gene_variant BLCA-US 1 897016 897016 single base substitution G A exon_variant BLCA-US 1 897016 897016 single base substitution G A missense_variant M125I 375G>A BLCA-US 1 897016 897016 single base substitution G A upstream_gene_variant BLCA-US 1 900368 900368 single base substitution G T downstream_gene_variant BLCA-US 1 900368 900368 single base substitution G T missense_variant D576Y 1726G>T BRCA-EU 1 892421 892421 single base substitution G A upstream_gene_variant BRCA-EU 1 893651 893651 single base substitution G C upstream_gene_variant BRCA-EU 1 894558 894558 single base substitution C G upstream_gene_variant BRCA-EU 1 895196 895196 single base substitution C G upstream_gene_variant BRCA-EU 1 900165 900165 single base substitution G C downstream_gene_variant BRCA-EU 1 900165 900165 single base substitution G C intron_variant BRCA-EU 1 902857 902857 single base substitution C T downstream_gene_variant BRCA-EU 1 903395 903395 single base substitution C T downstream_gene_variant BRCA-FR 1 894684 894684 single base substitution G A upstream_gene_variant BRCA-KR 1 899847 899847 single base substitution C T 3_prime_UTR_variant BRCA-KR 1 899847 899847 single base substitution C T downstream_gene_variant BRCA-KR 1 899847 899847 single base substitution C T missense_variant S546L 1637C>T BRCA-US 1 892292 892292 single base substitution T A upstream_gene_variant BRCA-US 1 897038 897038 single base substitution G A exon_variant BRCA-US 1 897038 897038 single base substitution G A missense_variant V133M 397G>A BRCA-US 1 897038 897038 single base substitution G A upstream_gene_variant BRCA-US 1 897821 897821 single base substitution C T exon_variant BRCA-US 1 897821 897821 single base substitution C T synonymous_variant D266D 798C>T BRCA-US 1 897821 897821 single base substitution C T upstream_gene_variant BRCA-US 1 899384 899384 single base substitution G A 3_prime_UTR_variant BRCA-US 1 899384 899384 single base substitution G A downstream_gene_variant BRCA-US 1 899384 899384 single base substitution G A exon_variant BRCA-US 1 899384 899384 single base substitution G A synonymous_variant T480T 1440G>A BRCA-US 1 900505 900505 single base substitution G C downstream_gene_variant BRCA-US 1 900505 900505 single base substitution G C synonymous_variant V621V 1863G>C BRCA-US 1 901936 901936 single base substitution C T downstream_gene_variant BTCA-JP 1 891592 891592 single base substitution G A upstream_gene_variant BTCA-JP 1 892503 892503 single base substitution G A upstream_gene_variant BTCA-JP 1 895976 895976 single base substitution C T 5_prime_UTR_variant BTCA-JP 1 895976 895976 single base substitution C T upstream_gene_variant BTCA-JP 1 899633 899633 deletion of <=200bp C - downstream_gene_variant BTCA-JP 1 899633 899633 deletion of <=200bp C - intron_variant BTCA-JP 1 900388 900388 deletion of <=200bp G - downstream_gene_variant BTCA-JP 1 900388 900388 deletion of <=200bp G - frameshift_variant V582 BTCA-JP 1 900461 900461 single base substitution G A downstream_gene_variant BTCA-JP 1 900461 900461 single base substitution G A missense_variant A607T 1819G>A BTCA-JP 1 902069 902069 single base substitution T C downstream_gene_variant CESC-US 1 891554 891554 single base substitution C T upstream_gene_variant CESC-US 1 894355 894355 single base substitution C G upstream_gene_variant CESC-US 1 897278 897278 single base substitution C T exon_variant CESC-US 1 897278 897278 single base substitution C T stop_gained Q188* 562C>T CESC-US 1 897278 897278 single base substitution C T upstream_gene_variant CLLE-ES 1 897609 897609 single base substitution T A exon_variant CLLE-ES 1 897609 897609 single base substitution T A intron_variant CLLE-ES 1 897609 897609 single base substitution T A upstream_gene_variant CLLE-ES 1 905022 905022 single base substitution G A downstream_gene_variant COAD-US 1 898541 898541 single base substitution C T downstream_gene_variant COAD-US 1 898541 898541 single base substitution C T exon_variant COAD-US 1 898541 898541 single base substitution C T synonymous_variant R365R 1095C>T COAD-US 1 898541 898541 single base substitution C T upstream_gene_variant COAD-US 1 902128 902128 single base substitution C T downstream_gene_variant COCA-CN 1 891485 891485 single base substitution C A upstream_gene_variant COCA-CN 1 894083 894083 single base substitution G T upstream_gene_variant COCA-CN 1 896951 896951 single base substitution G A exon_variant COCA-CN 1 896951 896951 single base substitution G A intron_variant COCA-CN 1 896951 896951 single base substitution G A upstream_gene_variant COCA-CN 1 896976 896976 single base substitution C T exon_variant COCA-CN 1 896976 896976 single base substitution C T intron_variant COCA-CN 1 896976 896976 single base substitution C T upstream_gene_variant COCA-CN 1 897470 897470 single base substitution A C exon_variant COCA-CN 1 897470 897470 single base substitution A C intron_variant COCA-CN 1 897470 897470 single base substitution A C upstream_gene_variant COCA-CN 1 897583 897583 single base substitution G T exon_variant COCA-CN 1 897583 897583 single base substitution G T intron_variant COCA-CN 1 897583 897583 single base substitution G T upstream_gene_variant COCA-CN 1 897792 897792 single base substitution C T exon_variant COCA-CN 1 897792 897792 single base substitution C T stop_gained R257* 769C>T COCA-CN 1 897792 897792 single base substitution C T upstream_gene_variant COCA-CN 1 897849 897849 single base substitution C T exon_variant COCA-CN 1 897849 897849 single base substitution C T missense_variant R276W 826C>T COCA-CN 1 897849 897849 single base substitution C T upstream_gene_variant COCA-CN 1 898493 898493 single base substitution C T downstream_gene_variant COCA-CN 1 898493 898493 single base substitution C T exon_variant COCA-CN 1 898493 898493 single base substitution C T synonymous_variant G349G 1047C>T COCA-CN 1 898493 898493 single base substitution C T upstream_gene_variant COCA-CN 1 898539 898539 single base substitution C T downstream_gene_variant COCA-CN 1 898539 898539 single base substitution C T exon_variant COCA-CN 1 898539 898539 single base substitution C T missense_variant R365C 1093C>T COCA-CN 1 898539 898539 single base substitution C T upstream_gene_variant COCA-CN 1 903258 903258 single base substitution G A downstream_gene_variant ESAD-UK 1 891064 891064 single base substitution G C upstream_gene_variant ESAD-UK 1 891630 891630 single base substitution G A upstream_gene_variant ESAD-UK 1 891631 891631 single base substitution C A upstream_gene_variant ESAD-UK 1 892886 892886 single base substitution C T upstream_gene_variant ESAD-UK 1 894496 894496 single base substitution G T upstream_gene_variant ESAD-UK 1 895219 895219 single base substitution C T upstream_gene_variant ESAD-UK 1 897590 897590 single base substitution C T exon_variant ESAD-UK 1 897590 897590 single base substitution C T intron_variant ESAD-UK 1 897590 897590 single base substitution C T upstream_gene_variant ESAD-UK 1 898606 898606 single base substitution T G downstream_gene_variant ESAD-UK 1 898606 898606 single base substitution T G exon_variant ESAD-UK 1 898606 898606 single base substitution T G missense_variant V387G 1160T>G ESAD-UK 1 898606 898606 single base substitution T G upstream_gene_variant ESAD-UK 1 900818 900818 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 900818 900818 single base substitution G A downstream_gene_variant ESAD-UK 1 902923 902923 single base substitution G A downstream_gene_variant ESCA-CN 1 898171 898171 single base substitution G A downstream_gene_variant ESCA-CN 1 898171 898171 single base substitution G A exon_variant ESCA-CN 1 898171 898171 single base substitution G A missense_variant D306N 916G>A ESCA-CN 1 898171 898171 single base substitution G A upstream_gene_variant ESCA-CN 1 900543 900543 single base substitution C T downstream_gene_variant ESCA-CN 1 900543 900543 single base substitution C T missense_variant T634M 1901C>T ESCA-CN 1 902141 902141 single base substitution G T downstream_gene_variant KIRC-US 1 897301 897301 single base substitution G T exon_variant KIRC-US 1 897301 897301 single base substitution G T synonymous_variant L195L 585G>T KIRC-US 1 897301 897301 single base substitution G T upstream_gene_variant KIRC-US 1 897302 897302 single base substitution G T exon_variant KIRC-US 1 897302 897302 single base substitution G T missense_variant G196C 586G>T KIRC-US 1 897302 897302 single base substitution G T upstream_gene_variant KIRC-US 1 900441 900441 single base substitution G A downstream_gene_variant KIRC-US 1 900441 900441 single base substitution G A missense_variant R600K 1799G>A KIRP-US 1 891312 891312 single base substitution T G upstream_gene_variant KIRP-US 1 898748 898748 single base substitution G A downstream_gene_variant KIRP-US 1 898748 898748 single base substitution G A exon_variant KIRP-US 1 898748 898748 single base substitution G A missense_variant E407K 1219G>A KIRP-US 1 898748 898748 single base substitution G A upstream_gene_variant LAML-KR 1 892460 892460 single base substitution G C upstream_gene_variant LAML-KR 1 894104 894104 single base substitution C T upstream_gene_variant LAML-KR 1 898606 898606 single base substitution T C downstream_gene_variant LAML-KR 1 898606 898606 single base substitution T C exon_variant LAML-KR 1 898606 898606 single base substitution T C missense_variant V387A 1160T>C LAML-KR 1 898606 898606 single base substitution T C upstream_gene_variant LGG-US 1 897822 897822 single base substitution G A exon_variant LGG-US 1 897822 897822 single base substitution G A missense_variant V267M 799G>A LGG-US 1 897822 897822 single base substitution G A upstream_gene_variant LICA-CN 1 898883 898883 single base substitution A T downstream_gene_variant LICA-CN 1 898883 898883 single base substitution A T missense_variant S452C 1354A>T LICA-CN 1 898883 898883 single base substitution A T splice_region_variant LICA-CN 1 898883 898883 single base substitution A T upstream_gene_variant LICA-CN 1 902094 902094 single base substitution G T downstream_gene_variant LIHC-US 1 898282 898282 single base substitution G A downstream_gene_variant LIHC-US 1 898282 898282 single base substitution G A exon_variant LIHC-US 1 898282 898282 single base substitution G A missense_variant V343M 1027G>A LIHC-US 1 898282 898282 single base substitution G A upstream_gene_variant LINC-JP 1 894539 894539 single base substitution C A upstream_gene_variant LINC-JP 1 895901 895901 single base substitution C A upstream_gene_variant LUSC-KR 1 891841 891841 single base substitution G A upstream_gene_variant LUSC-KR 1 892533 892533 single base substitution C T upstream_gene_variant LUSC-KR 1 894686 894686 single base substitution C A upstream_gene_variant LUSC-KR 1 895721 895721 single base substitution G T upstream_gene_variant LUSC-KR 1 895901 895901 single base substitution C A upstream_gene_variant LUSC-KR 1 895951 895951 single base substitution G T upstream_gene_variant LUSC-KR 1 898741 898741 single base substitution T A downstream_gene_variant LUSC-KR 1 898741 898741 single base substitution T A exon_variant LUSC-KR 1 898741 898741 single base substitution T A synonymous_variant A404A 1212T>A LUSC-KR 1 898741 898741 single base substitution T A upstream_gene_variant LUSC-KR 1 898806 898806 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 898806 898806 single base substitution G A downstream_gene_variant LUSC-KR 1 898806 898806 single base substitution G A missense_variant R426Q 1277G>A LUSC-KR 1 898806 898806 single base substitution G A upstream_gene_variant LUSC-KR 1 899304 899304 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 899304 899304 single base substitution G A downstream_gene_variant LUSC-KR 1 899304 899304 single base substitution G A exon_variant LUSC-KR 1 899304 899304 single base substitution G A missense_variant E454K 1360G>A LUSC-KR 1 899534 899534 single base substitution G C 3_prime_UTR_variant LUSC-KR 1 899534 899534 single base substitution G C downstream_gene_variant LUSC-KR 1 899534 899534 single base substitution G C exon_variant LUSC-KR 1 899534 899534 single base substitution G C missense_variant A498P 1492G>C LUSC-KR 1 901395 901395 single base substitution G T downstream_gene_variant LUSC-KR 1 904519 904519 single base substitution G T downstream_gene_variant LUSC-US 1 891504 891504 single base substitution G A upstream_gene_variant LUSC-US 1 898253 898253 single base substitution G A downstream_gene_variant LUSC-US 1 898253 898253 single base substitution G A exon_variant LUSC-US 1 898253 898253 single base substitution G A missense_variant R333H 998G>A LUSC-US 1 898253 898253 single base substitution G A upstream_gene_variant MALY-DE 1 901176 901176 insertion of <=200bp - G downstream_gene_variant MALY-DE 1 903777 903777 single base substitution C T downstream_gene_variant MELA-AU 1 891040 891040 single base substitution G A upstream_gene_variant MELA-AU 1 891270 891270 single base substitution C T upstream_gene_variant MELA-AU 1 891401 891401 single base substitution G A upstream_gene_variant MELA-AU 1 891785 891785 single base substitution G A upstream_gene_variant MELA-AU 1 892870 892870 single base substitution G A upstream_gene_variant MELA-AU 1 893355 893355 single base substitution C T upstream_gene_variant MELA-AU 1 893606 893606 single base substitution G A upstream_gene_variant MELA-AU 1 894631 894631 single base substitution C T upstream_gene_variant MELA-AU 1 894650 894650 single base substitution C T upstream_gene_variant MELA-AU 1 894651 894651 single base substitution C T upstream_gene_variant MELA-AU 1 894682 894682 single base substitution C T upstream_gene_variant MELA-AU 1 894701 894701 single base substitution C T upstream_gene_variant MELA-AU 1 894706 894706 single base substitution C T upstream_gene_variant MELA-AU 1 894728 894728 single base substitution C T upstream_gene_variant MELA-AU 1 894733 894733 single base substitution G A upstream_gene_variant MELA-AU 1 895482 895482 single base substitution G A upstream_gene_variant MELA-AU 1 895632 895632 single base substitution G A upstream_gene_variant MELA-AU 1 895922 895923 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 895937 895937 single base substitution G A upstream_gene_variant MELA-AU 1 896587 896587 single base substitution C T intron_variant MELA-AU 1 896587 896587 single base substitution C T upstream_gene_variant MELA-AU 1 897621 897621 single base substitution C T exon_variant MELA-AU 1 897621 897621 single base substitution C T intron_variant MELA-AU 1 897621 897621 single base substitution C T upstream_gene_variant MELA-AU 1 897689 897689 single base substitution C T exon_variant MELA-AU 1 897689 897689 single base substitution C T intron_variant MELA-AU 1 897689 897689 single base substitution C T upstream_gene_variant MELA-AU 1 898318 898318 single base substitution C T downstream_gene_variant MELA-AU 1 898318 898318 single base substitution C T intron_variant MELA-AU 1 898318 898318 single base substitution C T upstream_gene_variant MELA-AU 1 898458 898458 single base substitution C T downstream_gene_variant MELA-AU 1 898458 898458 single base substitution C T exon_variant MELA-AU 1 898458 898458 single base substitution C T intron_variant MELA-AU 1 898458 898458 single base substitution C T upstream_gene_variant MELA-AU 1 898516 898516 single base substitution G A downstream_gene_variant MELA-AU 1 898516 898516 single base substitution G A exon_variant MELA-AU 1 898516 898516 single base substitution G A missense_variant G357E 1070G>A MELA-AU 1 898516 898516 single base substitution G A upstream_gene_variant MELA-AU 1 899163 899164 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 899163 899164 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 899163 899164 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 899325 899325 single base substitution G A 3_prime_UTR_variant MELA-AU 1 899325 899325 single base substitution G A downstream_gene_variant MELA-AU 1 899325 899325 single base substitution G A exon_variant MELA-AU 1 899325 899325 single base substitution G A missense_variant G461R 1381G>A MELA-AU 1 899847 899847 single base substitution C T 3_prime_UTR_variant MELA-AU 1 899847 899847 single base substitution C T downstream_gene_variant MELA-AU 1 899847 899847 single base substitution C T missense_variant S546L 1637C>T MELA-AU 1 900641 900641 single base substitution C T 3_prime_UTR_variant MELA-AU 1 900641 900641 single base substitution C T downstream_gene_variant MELA-AU 1 900980 900980 single base substitution C T 3_prime_UTR_variant MELA-AU 1 900980 900980 single base substitution C T downstream_gene_variant MELA-AU 1 901153 901153 single base substitution C T downstream_gene_variant MELA-AU 1 902586 902586 single base substitution G A downstream_gene_variant MELA-AU 1 902675 902675 single base substitution G A downstream_gene_variant MELA-AU 1 902849 902849 single base substitution C T downstream_gene_variant MELA-AU 1 903043 903043 single base substitution C T downstream_gene_variant MELA-AU 1 903159 903160 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 903161 903161 single base substitution G A downstream_gene_variant MELA-AU 1 903449 903461 deletion of <=200bp GCCCCGAGGCTGA - downstream_gene_variant MELA-AU 1 903725 903725 single base substitution C T downstream_gene_variant MELA-AU 1 903854 903854 single base substitution G A downstream_gene_variant MELA-AU 1 904299 904299 single base substitution G A downstream_gene_variant MELA-AU 1 904312 904312 single base substitution C T downstream_gene_variant MELA-AU 1 905623 905623 single base substitution G A downstream_gene_variant MELA-AU 1 906018 906018 single base substitution C T downstream_gene_variant ORCA-IN 1 898490 898490 single base substitution C A downstream_gene_variant ORCA-IN 1 898490 898490 single base substitution C A exon_variant ORCA-IN 1 898490 898490 single base substitution C A splice_region_variant ORCA-IN 1 898490 898490 single base substitution C A upstream_gene_variant ORCA-IN 1 899778 899778 single base substitution C T 3_prime_UTR_variant ORCA-IN 1 899778 899778 single base substitution C T downstream_gene_variant ORCA-IN 1 899778 899778 single base substitution C T missense_variant A523V 1568C>T ORCA-IN 1 902151 902151 single base substitution G A downstream_gene_variant OV-AU 1 892949 892949 single base substitution G A upstream_gene_variant OV-AU 1 895298 895298 single base substitution C T upstream_gene_variant OV-AU 1 901438 901438 single base substitution G A downstream_gene_variant PACA-AU 1 894137 894137 single base substitution G C upstream_gene_variant PACA-AU 1 894564 894564 single base substitution G A upstream_gene_variant PACA-AU 1 894922 894922 single base substitution C T upstream_gene_variant PACA-AU 1 904800 904800 single base substitution C T downstream_gene_variant PACA-AU 1 905332 905332 single base substitution G C downstream_gene_variant PACA-CA 1 900482 900482 single base substitution C T downstream_gene_variant PACA-CA 1 900482 900482 single base substitution C T missense_variant R614C 1840C>T PACA-CA 1 902727 902727 single base substitution C T downstream_gene_variant PACA-CA 1 904316 904316 single base substitution A G downstream_gene_variant PACA-CA 1 905957 905957 single base substitution C T downstream_gene_variant PAEN-AU 1 891271 891271 single base substitution A C upstream_gene_variant PBCA-DE 1 891305 891305 single base substitution G A upstream_gene_variant PBCA-DE 1 899989 899989 single base substitution A C downstream_gene_variant PBCA-DE 1 899989 899989 single base substitution A C intron_variant PBCA-DE 1 900205 900205 single base substitution T C downstream_gene_variant PBCA-DE 1 900205 900205 single base substitution T C intron_variant PBCA-DE 1 902694 902694 single base substitution G A downstream_gene_variant PRAD-CA 1 900169 900169 single base substitution C T downstream_gene_variant PRAD-CA 1 900169 900169 single base substitution C T intron_variant PRAD-UK 1 894672 894672 single base substitution C G upstream_gene_variant READ-US 1 892534 892534 single base substitution G A upstream_gene_variant READ-US 1 894389 894389 single base substitution T G upstream_gene_variant RECA-EU 1 899236 899236 single base substitution G T downstream_gene_variant RECA-EU 1 899236 899236 single base substitution G T exon_variant RECA-EU 1 899236 899236 single base substitution G T intron_variant RECA-EU 1 901072 901072 single base substitution T G 3_prime_UTR_variant RECA-EU 1 901072 901072 single base substitution T G downstream_gene_variant RECA-EU 1 901461 901461 single base substitution G A downstream_gene_variant SKCA-BR 1 892865 892866 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 1 894367 894367 single base substitution G A upstream_gene_variant SKCA-BR 1 894705 894705 single base substitution T C upstream_gene_variant SKCA-BR 1 894901 894901 single base substitution T C upstream_gene_variant SKCA-BR 1 896529 896529 single base substitution T G intron_variant SKCA-BR 1 896529 896529 single base substitution T G upstream_gene_variant SKCA-BR 1 897554 897554 single base substitution C A exon_variant SKCA-BR 1 897554 897554 single base substitution C A intron_variant SKCA-BR 1 897554 897554 single base substitution C A upstream_gene_variant SKCA-BR 1 897555 897555 single base substitution C T exon_variant SKCA-BR 1 897555 897555 single base substitution C T intron_variant SKCA-BR 1 897555 897555 single base substitution C T upstream_gene_variant SKCA-BR 1 900002 900002 insertion of <=200bp - AG downstream_gene_variant SKCA-BR 1 900002 900002 insertion of <=200bp - AG intron_variant SKCA-BR 1 903864 903864 single base substitution C T downstream_gene_variant SKCA-BR 1 905259 905259 single base substitution G A downstream_gene_variant SKCA-BR 1 905466 905466 single base substitution G A downstream_gene_variant SKCA-BR 1 905604 905604 single base substitution A G downstream_gene_variant SKCA-BR 1 906003 906003 single base substitution T G downstream_gene_variant SKCM-US 1 892513 892513 single base substitution T G upstream_gene_variant SKCM-US 1 892575 892575 single base substitution G A upstream_gene_variant SKCM-US 1 898107 898107 single base substitution C T 5_prime_UTR_variant SKCM-US 1 898107 898107 single base substitution C T downstream_gene_variant SKCM-US 1 898107 898107 single base substitution C T synonymous_variant P284P 852C>T SKCM-US 1 898107 898107 single base substitution C T upstream_gene_variant SKCM-US 1 898516 898516 single base substitution G A downstream_gene_variant SKCM-US 1 898516 898516 single base substitution G A exon_variant SKCM-US 1 898516 898516 single base substitution G A missense_variant G357E 1070G>A SKCM-US 1 898516 898516 single base substitution G A upstream_gene_variant SKCM-US 1 898587 898587 single base substitution C T downstream_gene_variant SKCM-US 1 898587 898587 single base substitution C T exon_variant SKCM-US 1 898587 898587 single base substitution C T missense_variant R381W 1141C>T SKCM-US 1 898587 898587 single base substitution C T upstream_gene_variant SKCM-US 1 898791 898791 single base substitution C T 3_prime_UTR_variant SKCM-US 1 898791 898791 single base substitution C T downstream_gene_variant SKCM-US 1 898791 898791 single base substitution C T missense_variant S421F 1262C>T SKCM-US 1 898791 898791 single base substitution C T upstream_gene_variant SKCM-US 1 899317 899317 single base substitution C T 3_prime_UTR_variant SKCM-US 1 899317 899317 single base substitution C T downstream_gene_variant SKCM-US 1 899317 899317 single base substitution C T exon_variant SKCM-US 1 899317 899317 single base substitution C T missense_variant P458L 1373C>T SKCM-US 1 900523 900523 single base substitution C T downstream_gene_variant SKCM-US 1 900523 900523 single base substitution C T synonymous_variant F627F 1881C>T SKCM-US 1 900534 900534 single base substitution C T downstream_gene_variant SKCM-US 1 900534 900534 single base substitution C T missense_variant S631F 1892C>T SKCM-US 1 905948 905948 single base substitution C T downstream_gene_variant STAD-US 1 891591 891591 single base substitution C T upstream_gene_variant STAD-US 1 892322 892322 single base substitution A C upstream_gene_variant STAD-US 1 894619 894619 single base substitution A G upstream_gene_variant STAD-US 1 897043 897043 single base substitution G A exon_variant STAD-US 1 897043 897043 single base substitution G A synonymous_variant T134T 402G>A STAD-US 1 897043 897043 single base substitution G A upstream_gene_variant STAD-US 1 898538 898538 single base substitution G A downstream_gene_variant STAD-US 1 898538 898538 single base substitution G A exon_variant STAD-US 1 898538 898538 single base substitution G A synonymous_variant T364T 1092G>A STAD-US 1 898538 898538 single base substitution G A upstream_gene_variant STAD-US 1 898826 898826 single base substitution G A 3_prime_UTR_variant STAD-US 1 898826 898826 single base substitution G A downstream_gene_variant STAD-US 1 898826 898826 single base substitution G A missense_variant A433T 1297G>A STAD-US 1 898826 898826 single base substitution G A upstream_gene_variant STAD-US 1 899343 899343 single base substitution G A 3_prime_UTR_variant STAD-US 1 899343 899343 single base substitution G A downstream_gene_variant STAD-US 1 899343 899343 single base substitution G A exon_variant STAD-US 1 899343 899343 single base substitution G A missense_variant A467T 1399G>A STAD-US 1 899373 899373 single base substitution C T 3_prime_UTR_variant STAD-US 1 899373 899373 single base substitution C T downstream_gene_variant STAD-US 1 899373 899373 single base substitution C T exon_variant STAD-US 1 899373 899373 single base substitution C T stop_gained R477* 1429C>T STAD-US 1 899383 899383 single base substitution C T 3_prime_UTR_variant STAD-US 1 899383 899383 single base substitution C T downstream_gene_variant STAD-US 1 899383 899383 single base substitution C T exon_variant STAD-US 1 899383 899383 single base substitution C T missense_variant T480M 1439C>T STAD-US 1 900386 900386 single base substitution G A downstream_gene_variant STAD-US 1 900386 900386 single base substitution G A missense_variant V582M 1744G>A STAD-US 1 900458 900458 single base substitution G A downstream_gene_variant STAD-US 1 900458 900458 single base substitution G A missense_variant A606T 1816G>A STAD-US 1 900527 900527 single base substitution C T downstream_gene_variant STAD-US 1 900527 900527 single base substitution C T missense_variant P629S 1885C>T THCA-SA 1 900505 900505 single base substitution G C downstream_gene_variant THCA-SA 1 900505 900505 single base substitution G C synonymous_variant V621V 1863G>C THCA-US 1 902110 902113 deletion of <=200bp GCCT - downstream_gene_variant UCEC-US 1 891361 891361 single base substitution C T upstream_gene_variant UCEC-US 1 891523 891523 single base substitution C T upstream_gene_variant UCEC-US 1 892309 892309 single base substitution C T upstream_gene_variant UCEC-US 1 892328 892328 single base substitution C A upstream_gene_variant UCEC-US 1 892595 892595 single base substitution C A upstream_gene_variant UCEC-US 1 897741 897741 single base substitution G A exon_variant UCEC-US 1 897741 897741 single base substitution G A missense_variant E240K 718G>A UCEC-US 1 897741 897741 single base substitution G A upstream_gene_variant UCEC-US 1 898231 898231 single base substitution G A downstream_gene_variant UCEC-US 1 898231 898231 single base substitution G A exon_variant UCEC-US 1 898231 898231 single base substitution G A missense_variant V326I 976G>A UCEC-US 1 898231 898231 single base substitution G A upstream_gene_variant UCEC-US 1 900462 900462 single base substitution C T downstream_gene_variant UCEC-US 1 900462 900462 single base substitution C T missense_variant A607V 1820C>T UCEC-US 1 905738 905738 single base substitution C T downstream_gene_variant UCEC-US 1 905935 905935 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand KM12 COSM2258951 c.251G>A p.R84H Substitution - Missense 1:961436-961436 + TCGA-EB-A24D-01 COSM3493201 c.1141C>T p.R381W Substitution - Missense 1:963207-963207 + 1517_PT COSM5754526 c.844C>T p.R282W Substitution - Missense 1:962719-962719 + TCGA-BH-A18G-01 COSM2259024 c.798C>T p.D266D Substitution - coding silent 1:962441-962441 + sysucc-1339T COSM5483208 c.826C>T p.R276W Substitution - Missense 1:962469-962469 + TCGA-EE-A2MR-06 COSM3493209 c.1881C>T p.F627F Substitution - coding silent 1:965143-965143 + CCK81 COSM2259031 c.1019C>G p.A340G Substitution - Missense 1:962894-962894 + J52_T COSM3977957 c.1212T>A p.A404A Substitution - coding silent 1:963361-963361 + LUAD-S01409 COSM346603 c.1215C>G p.T405T Substitution - coding silent 1:963364-963364 + H1155 COSM1195781 c.796G>A p.D266N Substitution - Missense 1:962439-962439 + HN_00076 COSM124001 c.409G>A p.D137N Substitution - Missense 1:961670-961670 + B43-Tumor COSM3930875 c.1859C>T p.A620V Substitution - Missense 1:965121-965121 + ESCC_BICR_013T COSM5439320 c.916G>A p.D306N Substitution - Missense 1:962791-962791 + TCGA-CK-5916-01 COSM1344696 c.1095C>T p.R365R Substitution - coding silent 1:963161-963161 + PCSI_0002_Pa_X COSM3377303 c.1840C>T p.R614C Substitution - Missense 1:965102-965102 + TCGA-BR-8680-01 COSM4010466 c.1429C>T p.R477* Substitution - Nonsense 1:963993-963993 + I2L-P19Ta-Tumor-Biopsy COSM5352903 c.340A>G p.S114G Substitution - Missense 1:961525-961525 + pfg017T COSM240426 c.1439C>T p.T480M Substitution - Missense 1:964003-964003 + KM12 COSM2259114 c.1746delG p.G584fs*>59 Deletion - Frameshift 1:965008-965008 + PTC-54C COSM4144235 c.1917C>T p.S639S Substitution - coding silent 1:965179-965179 + ESO-143 COSM1255965 c.1716G>A p.L572L Substitution - coding silent 1:964978-964978 + RMH008-R3 COSM4411391 c.1403C>T p.A468V Substitution - Missense 1:963967-963967 + TCGA-BR-6566-01 COSM4010467 c.1744G>A p.V582M Substitution - Missense 1:965006-965006 + TCGA-HU-A4GQ-01 COSM4010464 c.1297G>A p.A433T Substitution - Missense 1:963446-963446 + CSCC-49-T COSM4469012 c.1577C>T p.A526V Substitution - Missense 1:964407-964407 + TCGA-EB-A299-01 COSM3493210 c.1892C>T p.S631F Substitution - Missense 1:965154-965154 + TCGA-BR-8591-01 COSM240426 c.1439C>T p.T480M Substitution - Missense 1:964003-964003 + 6115115 COSM5561125 c.1633A>C p.N545H Substitution - Missense 1:964463-964463 + SC_9027 COSM5566535 c.1838G>A p.R613Q Substitution - Missense 1:965100-965100 + LC_C6 COSM1185261 c.1499T>C p.V500A Substitution - Missense 1:964161-964161 + ESO-114 COSM1255964 c.381G>A p.E127E Substitution - coding silent 1:961642-961642 + OSCC-GB_01110111 COSM4884655 c.1044C>A p.G348G Substitution - coding silent 1:963110-963110 + PTC-50C COSM5445857 c.85_105del21 p.P29_P35delPPPPQPP Deletion - In frame 1:960778-960798 + ESCC_BICR_033T COSM5439716 c.1901C>T p.T634M Substitution - Missense 1:965163-965163 + OSCC-GB_01030111 COSM4887628 c.1568C>T p.A523V Substitution - Missense 1:964398-964398 + TCGA-DU-A5TS-01 COSM3966790 c.799G>A p.V267M Substitution - Missense 1:962442-962442 + ESO-0023 COSM1255962 c.1188-6C>T p.? Unknown 1:963331-963331 + TCGA-Q1-A73O-01 COSM4834105 c.562C>T p.Q188* Substitution - Nonsense 1:961898-961898 + sysucc-783T COSM5484216 c.1093C>T p.R365C Substitution - Missense 1:963159-963159 + BK0043 COSM4187332 c.284T>C p.V95A Substitution - Missense 1:961469-961469 + LIM2405 COSM4613474 c.1371delC p.L459fs*1 Deletion - Frameshift 1:963935-963935 + 2318492 COSM4777017 c.475G>A p.E159K Substitution - Missense 1:961736-961736 + NCI-H716 COSM2259020 c.745G>A p.V249M Substitution - Missense 1:962388-962388 + TCGA-21-1081-01 COSM682780 c.998G>A p.R333H Substitution - Missense 1:962873-962873 + SNU-175 COSM2259093 c.1094G>A p.R365H Substitution - Missense 1:963160-963160 + PTC-7C COSM4144233 c.715C>T p.L239L Substitution - coding silent 1:962358-962358 + TCGA-A7-A3J0-01 COSM426805 c.1863G>C p.V621V Substitution - coding silent 1:965125-965125 + NPC29F COSM4995494 c.1258G>A p.V420M Substitution - Missense 1:963407-963407 + EGC8 COSM5053740 c.1368C>T p.Y456Y Substitution - coding silent 1:963932-963932 + 1517_CLM COSM5754526 c.844C>T p.R282W Substitution - Missense 1:962719-962719 + TCGA-BR-4361-01 COSM4010463 c.1092G>A p.T364T Substitution - coding silent 1:963158-963158 + TCGA-06-0750 COSM2151955 c.1157_1158delCG p.A386fs*12 Deletion - Frameshift 1:963223-963224 + TCGA-D8-A1XM-01 COSM1474247 c.397G>A p.V133M Substitution - Missense 1:961658-961658 + T96 COSM4696474 c.1579G>A p.V527M Substitution - Missense 1:964409-964409 + TCGA-EE-A17Y-06 COSM3493202 c.1262C>T p.S421F Substitution - Missense 1:963411-963411 + 2290929 COSM4439782 c.1435G>A p.A479T Substitution - Missense 1:963999-963999 + WA56 COSM240426 c.1439C>T p.T480M Substitution - Missense 1:964003-964003 + LP6007544-DNA_A01 COSM4408822 c.1160T>G p.V387G Substitution - Missense 1:963226-963226 + 1848_T COSM3977958 c.1448G>T p.G483V Substitution - Missense 1:964110-964110 + 61 COSM240426 c.1439C>T p.T480M Substitution - Missense 1:964003-964003 + TCGA-ER-A19B-06 COSM3493203 c.1373C>T p.P458L Substitution - Missense 1:963937-963937 + TCGA-FD-A3B5-01 COSM1296771 c.375G>A p.M125I Substitution - Missense 1:961636-961636 + ESO-075 COSM1255963 c.1130C>T p.T377M Substitution - Missense 1:963196-963196 + TCGA-BF-A1Q0-01 COSM3493190 c.852C>T p.P284P Substitution - coding silent 1:962727-962727 + CN-AML-CR-19-Dx COSM5426551 c.1160T>C p.V387A Substitution - Missense 1:963226-963226 + TCGA-CZ-4856-01 COSM1492151 c.585_586GG>TT p.G196C Substitution - Missense 1:961921-961922 + TCGA-CZ-4856-01 COSM465064 c.586G>T p.G196C Substitution - Missense 1:961922-961922 + J65_T COSM3977959 c.1492G>C p.A498P Substitution - Missense 1:964154-964154 + RMH008-R6 COSM4411391 c.1403C>T p.A468V Substitution - Missense 1:963967-963967 + TCGA-BR-4184-01 COSM4010446 c.402G>A p.T134T Substitution - coding silent 1:961663-961663 + KPOPBR-03-T COSM5965440 c.1637C>T p.S546L Substitution - Missense 1:964467-964467 + PR-05-3440 COSM245315 c.1909G>A p.V637M Substitution - Missense 1:965171-965171 + I2L-P19Ta-Tumor-Organoid COSM5352903 c.340A>G p.S114G Substitution - Missense 1:961525-961525 + TCGA-EE-A2MC-06 COSM3493200 c.1070G>A p.G357E Substitution - Missense 1:963136-963136 + YUKAT COSM5381663 c.291C>T p.H97H Substitution - coding silent 1:961476-961476 + RMH008-R1 COSM4411391 c.1403C>T p.A468V Substitution - Missense 1:963967-963967 + BD124T COSM2259114 c.1746delG p.G584fs*>59 Deletion - Frameshift 1:965008-965008 + PT08_1 COSM5892605 c.1356T>G p.S452R Substitution - Missense 1:963920-963920 + TCGA-CG-4465-01 COSM4010465 c.1399G>A p.A467T Substitution - Missense 1:963963-963963 + SJDOSTEOS009 COSM5760038 c.906G>A p.R302R Substitution - coding silent 1:962781-962781 + 61 COSM5735196 c.568G>A p.D190N Substitution - Missense 1:961904-961904 + SNUH_G45_S1 COSM3997700 c.609G>C p.A203A Substitution - coding silent 1:961945-961945 + HDC101 COSM4635986 c.343C>T p.P115S Substitution - Missense 1:961528-961528 + 6115115 COSM5559720 c.1632C>A p.L544L Substitution - coding silent 1:964462-964462 + T368 COSM4696475 c.1747G>T p.G583W Substitution - Missense 1:965009-965009 + TCGA-B7-5816-01 COSM4010477 c.1885C>T p.P629S Substitution - Missense 1:965147-965147 + TCGA-CG-5726-01 COSM4010468 c.1816G>A p.A606T Substitution - Missense 1:965078-965078 + 587342 COSM1212616 c.971G>T p.R324M Substitution - Missense 1:962846-962846 + RMH008-R2 COSM4411391 c.1403C>T p.A468V Substitution - Missense 1:963967-963967 + sysucc-1317T COSM5449161 c.1047C>T p.G349G Substitution - coding silent 1:963113-963113 + TCGA-06-0210 COSM2150687 c.1157C>G p.A386G Substitution - Missense 1:963223-963223 + MD-051 COSM302502 c.703C>A p.L235M Substitution - Missense 1:962039-962039 + TCGA-BT-A20N-01 COSM414747 c.1726G>T p.D576Y Substitution - Missense 1:964988-964988 + TCGA-AC-A62Y-01 COSM3806069 c.1440G>A p.T480T Substitution - coding silent 1:964004-964004 + TCGA-LG-A6GG-01 COSM4939518 c.1027G>A p.V343M Substitution - Missense 1:962902-962902 + BD72T COSM5511434 c.1819G>A p.A607T Substitution - Missense 1:965081-965081 + TCGA-D1-A15X-01 COSM913020 c.718G>A p.E240K Substitution - Missense 1:962361-962361 + 2290930 COSM4439782 c.1435G>A p.A479T Substitution - Missense 1:963999-963999 + TCGA-CZ-5468-01 COSM465067 c.1799G>A p.R600K Substitution - Missense 1:965061-965061 + TCGA-A4-A5Y1-01 COSM3985281 c.1219G>A p.E407K Substitution - Missense 1:963368-963368 + Pat_11_A COSM5847455 c.1760G>A p.G587D Substitution - Missense 1:965022-965022 + SC_9076 COSM5560606 c.255G>A p.M85I Substitution - Missense 1:961440-961440 + HCC058T COSM5804803 c.1354A>T p.S452C Substitution - Missense 1:963503-963503 + ESO-720 COSM1255966 c.1382G>A p.G461E Substitution - Missense 1:963946-963946 + TCGA-CZ-4856-01 COSM3361041 c.585G>T p.L195L Substitution - coding silent 1:961921-961921 + LS174T COSM2258946 c.152delC p.M53fs*8 Deletion - Frameshift 1:961337-961337 + RMH008-R4 COSM4411391 c.1403C>T p.A468V Substitution - Missense 1:963967-963967 + T3724 COSM4696473 c.584T>C p.L195P Substitution - Missense 1:961920-961920 + STC252 COSM5053739 c.1363C>T p.R455C Substitution - Missense 1:963927-963927 + TCGA-A5-A0VP-01 COSM913021 c.976G>A p.V326I Substitution - Missense 1:962851-962851 + TCGA-BS-A0UA-01 COSM913032 c.1820C>T p.A607V Substitution - Missense 1:965082-965082 + LS180 COSM2258946 c.152delC p.M53fs*8 Deletion - Frameshift 1:961337-961337 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.109154;Hs.109212 1p36.33

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T Missense p.A607V c.1820C>T 1 900462 UCEC C T Missense p.P458L c.1373C>T 1 899317 CM C T Missense p.P629S c.1885C>T 1 900527 STAD C T Missense p.R381W c.1141C>T 1 898587 CM C T Missense p.S421F c.1262C>T 1 898791 CM C T Missense p.S631F c.1892C>T 1 900534 CM C T Missense p.T377M c.1130C>T 1 898576 ESCA C T Missense p.T480M c.1439C>T 1 899383 STAD C T Synonymous p.P284P c.852C>T 1 898107 CM G A Missense p.A467T c.1399G>A 1 899343 STAD G A Missense p.A606T c.1816G>A 1 900458 STAD G A Missense p.D137N c.409G>A 1 897050 HNSC G A Missense p.D457N c.1369G>A 1 899313 HNSC G A Missense p.G357E c.1070G>A 1 898516 CM G A Missense p.G461E c.1382G>A 1 899326 ESCA G A Missense p.M125I c.375G>A 1 897016 BLCA G A Missense p.R333H c.998G>A 1 898253 LUSC G A Missense p.R426Q c.1277G>A 1 898806 CM G A Missense p.R600K c.1799G>A 1 900441 RCCC G A Missense p.R86H c.257G>A 1 896822 HNSC G A Missense p.V133M c.397G>A 1 897038 BRCA G A Missense p.V326I c.976G>A 1 898231 UCEC G A Missense p.V412M c.1234G>A 1 898763 STAD G A Synonymous p.E127E c.381G>A 1 897022 ESCA G A Synonymous p.G341G c.1023G>A 1 898278 LUAD G A Synonymous p.L572L c.1716G>A 1 900358 ESCA G A Synonymous p.V617V c.1851G>A 1 900493 CM GGTGAGG - Frameshift p.V301Tfs*13 c.900_906delGGTGAGG 1 898155 BRCA G T Missense p.A380S c.1138G>T 1 898584 HNSC G T Missense p.D576Y c.1726G>T 1 900368 BLCA G T Missense p.G196C c.586G>T 1 897302 LUAD G T Missense p.G196C c.586G>T 1 897302 RCCC G T Synonymous p.L195L c.585G>T 1 897301 RCCC