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 5 41927133 41927133 + Missense_Mutation SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 g.chr5:41927133A>G c.208A>G c.(208-210)Att>Gtt p.I70V BLCA 5 41927313 41927313 + Missense_Mutation SNP G G C TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr5:41927313G>C c.388G>C c.(388-390)Gag>Cag p.E130Q BLCA 5 41929935 41929935 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr5:41929935G>A c.562G>A c.(562-564)Gaa>Aaa p.E188K BLCA 5 41929974 41929974 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chr5:41929974G>A c.601G>A c.(601-603)Gag>Aag p.E201K BLCA 5 41939561 41939561 + Missense_Mutation SNP A A T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr5:41939561A>T c.917A>T c.(916-918)gAa>gTa p.E306V BRCA 5 41934239 41934239 + Nonsense_Mutation SNP G G T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 g.chr5:41934239G>T c.727G>T c.(727-729)Gaa>Taa p.E243* BRCA 5 41941351 41941351 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:41941351C>A c.1132C>A c.(1132-1134)Ctt>Att p.L378I CESC 5 41927154 41927154 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 g.chr5:41927154C>T c.229C>T c.(229-231)Cat>Tat p.H77Y COAD 5 41925578 41925578 + Missense_Mutation SNP C C T TCGA-DM-A28C-01A-11D-A16V-10 TCGA-DM-A28C-10A-01D-A16V-10 g.chr5:41925578C>T c.167C>T c.(166-168)gCc>gTc p.A56V COAD 5 41927139 41927139 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:41927139T>C c.214T>C c.(214-216)Tcc>Ccc p.S72P COAD 5 41927329 41927329 + Missense_Mutation SNP C C T TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr5:41927329C>T c.404C>T c.(403-405)gCa>gTa p.A135V COAD 5 41929926 41929926 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr5:41929926G>A c.553G>A c.(553-555)Ggt>Agt p.G185S COAD 5 41934414 41934414 + Intron SNP A A G TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr5:41934414A>G COAD 5 41939553 41939553 + Nonsense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr5:41939553G>A c.909G>A c.(907-909)tgG>tgA p.W303* COAD 5 41941371 41941371 + Silent SNP G G A TCGA-AA-3544-01A-01W-0831-10 TCGA-AA-3544-10A-01W-0831-10 g.chr5:41941371G>A c.1152G>A c.(1150-1152)aaG>aaA p.K384K COAD 5 41941372 41941372 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:41941372C>T c.1153C>T c.(1153-1155)Cgt>Tgt p.R385C COADREAD 5 41925578 41925578 + Missense_Mutation SNP C C T TCGA-DM-A28C-01A-11D-A16V-10 TCGA-DM-A28C-10A-01D-A16V-10 g.chr5:41925578C>T c.167C>T c.(166-168)gCc>gTc p.A56V COADREAD 5 41927139 41927139 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:41927139T>C c.214T>C c.(214-216)Tcc>Ccc p.S72P COADREAD 5 41927208 41927208 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:41927208G>T c.283G>T c.(283-285)Gat>Tat p.D95Y COADREAD 5 41927329 41927329 + Missense_Mutation SNP C C T TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr5:41927329C>T c.404C>T c.(403-405)gCa>gTa p.A135V COADREAD 5 41929926 41929926 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr5:41929926G>A c.553G>A c.(553-555)Ggt>Agt p.G185S COADREAD 5 41934414 41934414 + Intron SNP A A G TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr5:41934414A>G COADREAD 5 41939553 41939553 + Nonsense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr5:41939553G>A c.909G>A c.(907-909)tgG>tgA p.W303* COADREAD 5 41941371 41941371 + Silent SNP G G A TCGA-AA-3544-01A-01W-0831-10 TCGA-AA-3544-10A-01W-0831-10 g.chr5:41941371G>A c.1152G>A c.(1150-1152)aaG>aaA p.K384K COADREAD 5 41941372 41941372 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:41941372C>T c.1153C>T c.(1153-1155)Cgt>Tgt p.R385C DLBC 5 41925431 41925431 + Missense_Mutation SNP G G A TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr5:41925431G>A c.20G>A c.(19-21)cGc>cAc p.R7H ESCA 5 41927260 41927260 + Frame_Shift_Del DEL C C - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr5:41927260delC c.335delC c.(334-336)tctfs p.S112fs HNSC 5 41927222 41927222 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 g.chr5:41927222G>C c.297G>C c.(295-297)tgG>tgC p.W99C HNSC 5 41929884 41929884 + Silent SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 g.chr5:41929884C>T c.511C>T c.(511-513)Ctg>Ttg p.L171L HNSC 5 41934106 41934106 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr5:41934106C>G c.705C>G c.(703-705)atC>atG p.I235M HNSC 5 41934243 41934243 + Missense_Mutation SNP G G A TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr5:41934243G>A c.731G>A c.(730-732)aGa>aAa p.R244K HNSC 5 41939628 41939628 + Silent SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chr5:41939628A>G c.984A>G c.(982-984)ttA>ttG p.L328L KIPAN 5 41925546 41925546 + Silent SNP T T A TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr5:41925546T>A c.135T>A c.(133-135)cgT>cgA p.R45R KIPAN 5 41927219 41927219 + Silent SNP G G A TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr5:41927219G>A c.294G>A c.(292-294)ctG>ctA p.L98L KIPAN 5 41929897 41929897 + Missense_Mutation SNP A A G TCGA-B0-4837-01A-01D-1373-10 TCGA-B0-4837-11A-01D-1373-10 g.chr5:41929897A>G c.524A>G c.(523-525)aAt>aGt p.N175S KIPAN 5 41934379 41934379 + Silent SNP C C T TCGA-CZ-5988-01A-11D-1669-08 TCGA-CZ-5988-11A-01D-1669-08 g.chr5:41934379C>T c.867C>T c.(865-867)ttC>ttT p.F289F KIRC 5 41927219 41927219 + Silent SNP G G A TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr5:41927219G>A c.294G>A c.(292-294)ctG>ctA p.L98L KIRC 5 41929897 41929897 + Missense_Mutation SNP A A G TCGA-B0-4837-01A-01D-1373-10 TCGA-B0-4837-11A-01D-1373-10 g.chr5:41929897A>G c.524A>G c.(523-525)aAt>aGt p.N175S KIRC 5 41934379 41934379 + Silent SNP C C T TCGA-CZ-5988-01A-11D-1669-08 TCGA-CZ-5988-11A-01D-1669-08 g.chr5:41934379C>T c.867C>T c.(865-867)ttC>ttT p.F289F KIRP 5 41925546 41925546 + Silent SNP T T A TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr5:41925546T>A c.135T>A c.(133-135)cgT>cgA p.R45R LIHC 5 41927119 41927119 + Missense_Mutation SNP A A T TCGA-G3-A5SM-01A-12D-A28X-10 TCGA-G3-A5SM-10A-01D-A28X-10 g.chr5:41927119A>T c.194A>T c.(193-195)gAt>gTt p.D65V LIHC 5 41927229 41927229 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr5:41927229delT c.304delT c.(304-306)tttfs p.F102fs LIHC 5 41941379 41941379 + Missense_Mutation SNP G G A TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr5:41941379G>A c.1160G>A c.(1159-1161)aGa>aAa p.R387K LUAD 5 41927303 41927303 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr5:41927303G>T c.378G>T c.(376-378)aaG>aaT p.K126N LUAD 5 41929975 41929975 + Missense_Mutation SNP A A T TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr5:41929975A>T c.602A>T c.(601-603)gAg>gTg p.E201V LUAD 5 41929992 41929992 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr5:41929992G>T c.619G>T c.(619-621)Gct>Tct p.A207S LUAD 5 41934064 41934064 + Silent SNP C C G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr5:41934064C>G c.663C>G c.(661-663)gtC>gtG p.V221V LUAD 5 41934094 41934094 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 g.chr5:41934094C>T c.693C>T c.(691-693)ttC>ttT p.F231F LUAD 5 41939543 41939543 + Splice_Site SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 g.chr5:41939543G>T c.899G>T c.(898-900)aGa>aTa p.R300I LUAD 5 41939605 41939605 + Missense_Mutation SNP T T C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr5:41939605T>C c.961T>C c.(961-963)Tcg>Ccg p.S321P LUAD 5 41939707 41939707 + Missense_Mutation SNP C C T TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr5:41939707C>T c.1063C>T c.(1063-1065)Cac>Tac p.H355Y LUSC 5 41927172 41927172 + Nonsense_Mutation SNP G G T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr5:41927172G>T c.247G>T c.(247-249)Gga>Tga p.G83* LUSC 5 41927220 41927220 + Missense_Mutation SNP T T C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr5:41927220T>C c.295T>C c.(295-297)Tgg>Cgg p.W99R LUSC 5 41927307 41927307 + Missense_Mutation SNP A A G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr5:41927307A>G c.382A>G c.(382-384)Ata>Gta p.I128V LUSC 5 41927343 41927343 + Missense_Mutation SNP A A C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr5:41927343A>C c.418A>C c.(418-420)Atg>Ctg p.M140L LUSC 5 41941379 41941379 + Missense_Mutation SNP G G A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 g.chr5:41941379G>A c.1160G>A c.(1159-1161)aGa>aAa p.R387K PAAD 5 41939678 41939678 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:41939678C>T c.1034C>T c.(1033-1035)gCt>gTt p.A345V PRAD 5 41927295 41927296 + Frame_Shift_Del DEL TT TT - TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 g.chr5:41927295_41927296delTT c.370_371delTT c.(370-372)ttafs p.L124fs PRAD 5 41929873 41929873 + Missense_Mutation SNP T T G TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 g.chr5:41929873T>G c.500T>G c.(499-501)tTt>tGt p.F167C READ 5 41927208 41927208 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:41927208G>T c.283G>T c.(283-285)Gat>Tat p.D95Y SARC 5 41929978 41929978 + Missense_Mutation SNP A A C TCGA-Z4-AAPF-01A-11D-A38Z-09 TCGA-Z4-AAPF-10A-01D-A38Z-09 g.chr5:41929978A>C c.605A>C c.(604-606)gAa>gCa p.E202A SKCM 5 41929924 41929924 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:41929924C>T c.551C>T c.(550-552)cCa>cTa p.P184L SKCM 5 41934071 41934071 + Nonsense_Mutation SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr5:41934071C>T c.670C>T c.(670-672)Cag>Tag p.Q224* SKCM 5 41941382 41941382 + Nonstop_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr5:41941382G>T c.1163G>T c.(1162-1164)tGa>tTa p.*388L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 41927133 41927133 single base substitution A G exon_variant BLCA-US 5 41927133 41927133 single base substitution A G intron_variant BLCA-US 5 41927133 41927133 single base substitution A G missense_variant I70V 208A>G BLCA-US 5 41929935 41929935 single base substitution G A 3_prime_UTR_variant BLCA-US 5 41929935 41929935 single base substitution G A exon_variant BLCA-US 5 41929935 41929935 single base substitution G A missense_variant E188K 562G>A BLCA-US 5 41929974 41929974 single base substitution G A 3_prime_UTR_variant BLCA-US 5 41929974 41929974 single base substitution G A exon_variant BLCA-US 5 41929974 41929974 single base substitution G A missense_variant E201K 601G>A BOCA-FR 5 41928141 41928141 single base substitution A T intron_variant BOCA-FR 5 41934410 41934410 deletion of <=200bp A - 3_prime_UTR_variant BOCA-FR 5 41934410 41934410 deletion of <=200bp A - downstream_gene_variant BOCA-FR 5 41934410 41934410 deletion of <=200bp A - frameshift_variant R300 BOCA-FR 5 41934410 41934410 deletion of <=200bp A - frameshift_variant S300 BOCA-FR 5 41934410 41934410 deletion of <=200bp A - upstream_gene_variant BOCA-FR 5 41939458 41939458 single base substitution C T downstream_gene_variant BOCA-FR 5 41939458 41939458 single base substitution C T exon_variant BOCA-FR 5 41939458 41939458 single base substitution C T intron_variant BOCA-FR 5 41945259 41945259 single base substitution T A downstream_gene_variant BRCA-EU 5 41921416 41921416 single base substitution G T upstream_gene_variant BRCA-EU 5 41922364 41922364 single base substitution A T upstream_gene_variant BRCA-EU 5 41923801 41923801 single base substitution A G upstream_gene_variant BRCA-EU 5 41924087 41924087 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 41924670 41924670 single base substitution C G upstream_gene_variant BRCA-EU 5 41925661 41925661 single base substitution C G intron_variant BRCA-EU 5 41925908 41925908 single base substitution C A intron_variant BRCA-EU 5 41926507 41926507 single base substitution C G intron_variant BRCA-EU 5 41930494 41930494 single base substitution G A downstream_gene_variant BRCA-EU 5 41930494 41930494 single base substitution G A intron_variant BRCA-EU 5 41930589 41930589 single base substitution G C downstream_gene_variant BRCA-EU 5 41930589 41930589 single base substitution G C intron_variant BRCA-EU 5 41932876 41932876 single base substitution G T downstream_gene_variant BRCA-EU 5 41932876 41932876 single base substitution G T intron_variant BRCA-EU 5 41933671 41933671 single base substitution G C downstream_gene_variant BRCA-EU 5 41933671 41933671 single base substitution G C intron_variant BRCA-EU 5 41933804 41933804 single base substitution G A downstream_gene_variant BRCA-EU 5 41933804 41933804 single base substitution G A intron_variant BRCA-EU 5 41933958 41933958 single base substitution C A downstream_gene_variant BRCA-EU 5 41933958 41933958 single base substitution C A intron_variant BRCA-EU 5 41934260 41934260 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 41934260 41934260 single base substitution G C downstream_gene_variant BRCA-EU 5 41934260 41934260 single base substitution G C missense_variant E250Q 748G>C BRCA-EU 5 41937579 41937579 single base substitution T C downstream_gene_variant BRCA-EU 5 41937579 41937579 single base substitution T C intron_variant BRCA-EU 5 41937579 41937579 single base substitution T C upstream_gene_variant BRCA-EU 5 41937600 41937600 single base substitution A G downstream_gene_variant BRCA-EU 5 41937600 41937600 single base substitution A G intron_variant BRCA-EU 5 41937600 41937600 single base substitution A G upstream_gene_variant BRCA-EU 5 41941277 41941277 single base substitution C G intron_variant BRCA-EU 5 41942722 41942722 single base substitution T G downstream_gene_variant BRCA-FR 5 41922748 41922748 single base substitution C T upstream_gene_variant BRCA-FR 5 41930494 41930494 single base substitution G A downstream_gene_variant BRCA-FR 5 41930494 41930494 single base substitution G A intron_variant BRCA-FR 5 41930589 41930589 single base substitution G C downstream_gene_variant BRCA-FR 5 41930589 41930589 single base substitution G C intron_variant BRCA-FR 5 41933671 41933671 single base substitution G C downstream_gene_variant BRCA-FR 5 41933671 41933671 single base substitution G C intron_variant BRCA-FR 5 41933804 41933804 single base substitution G A downstream_gene_variant BRCA-FR 5 41933804 41933804 single base substitution G A intron_variant BRCA-FR 5 41934260 41934260 single base substitution G C 3_prime_UTR_variant BRCA-FR 5 41934260 41934260 single base substitution G C downstream_gene_variant BRCA-FR 5 41934260 41934260 single base substitution G C missense_variant E250Q 748G>C BRCA-UK 5 41939568 41939568 single base substitution T G downstream_gene_variant BRCA-UK 5 41939568 41939568 single base substitution T G exon_variant BRCA-UK 5 41939568 41939568 single base substitution T G intron_variant BRCA-UK 5 41939568 41939568 single base substitution T G synonymous_variant S308S 924T>G BRCA-US 5 41934239 41934239 single base substitution G T 3_prime_UTR_variant BRCA-US 5 41934239 41934239 single base substitution G T downstream_gene_variant BRCA-US 5 41934239 41934239 single base substitution G T stop_gained E243* 727G>T BRCA-US 5 41941351 41941351 single base substitution C A 3_prime_UTR_variant BRCA-US 5 41941351 41941351 single base substitution C A exon_variant BRCA-US 5 41941351 41941351 single base substitution C A missense_variant L378I 1132C>A CESC-US 5 41927154 41927154 single base substitution C T exon_variant CESC-US 5 41927154 41927154 single base substitution C T intron_variant CESC-US 5 41927154 41927154 single base substitution C T missense_variant H77Y 229C>T COAD-US 5 41925578 41925578 single base substitution C T exon_variant COAD-US 5 41925578 41925578 single base substitution C T missense_variant A56V 167C>T COAD-US 5 41927329 41927329 single base substitution C T exon_variant COAD-US 5 41927329 41927329 single base substitution C T intron_variant COAD-US 5 41927329 41927329 single base substitution C T missense_variant A135V 404C>T COAD-US 5 41941372 41941372 single base substitution C T 3_prime_UTR_variant COAD-US 5 41941372 41941372 single base substitution C T exon_variant COAD-US 5 41941372 41941372 single base substitution C T missense_variant R385C 1153C>T COCA-CN 5 41927365 41927365 single base substitution T C intron_variant COCA-CN 5 41929728 41929728 single base substitution A C intron_variant COCA-CN 5 41930487 41930487 single base substitution A T downstream_gene_variant COCA-CN 5 41930487 41930487 single base substitution A T intron_variant COCA-CN 5 41934030 41934030 single base substitution T C downstream_gene_variant COCA-CN 5 41934030 41934030 single base substitution T C intron_variant COCA-CN 5 41934158 41934158 single base substitution T C downstream_gene_variant COCA-CN 5 41934158 41934158 single base substitution T C intron_variant COCA-CN 5 41934346 41934346 single base substitution G A 3_prime_UTR_variant COCA-CN 5 41934346 41934346 single base substitution G A downstream_gene_variant COCA-CN 5 41934346 41934346 single base substitution G A synonymous_variant Q278Q 834G>A ESAD-UK 5 41920829 41920829 single base substitution C T upstream_gene_variant ESAD-UK 5 41922749 41922749 insertion of <=200bp - GT upstream_gene_variant ESAD-UK 5 41922870 41922870 single base substitution A G upstream_gene_variant ESAD-UK 5 41924101 41924101 single base substitution G A upstream_gene_variant ESAD-UK 5 41924784 41924784 insertion of <=200bp - T upstream_gene_variant ESAD-UK 5 41925841 41925841 single base substitution C A intron_variant ESAD-UK 5 41925972 41925972 single base substitution A G intron_variant ESAD-UK 5 41926141 41926141 single base substitution C T intron_variant ESAD-UK 5 41927899 41927899 single base substitution T G intron_variant ESAD-UK 5 41929421 41929421 single base substitution G A intron_variant ESAD-UK 5 41930212 41930212 single base substitution C A downstream_gene_variant ESAD-UK 5 41930212 41930212 single base substitution C A exon_variant ESAD-UK 5 41930212 41930212 single base substitution C A intron_variant ESAD-UK 5 41930395 41930395 single base substitution C A downstream_gene_variant ESAD-UK 5 41930395 41930395 single base substitution C A intron_variant ESAD-UK 5 41931589 41931589 single base substitution T G downstream_gene_variant ESAD-UK 5 41931589 41931589 single base substitution T G intron_variant ESAD-UK 5 41932484 41932484 single base substitution G A downstream_gene_variant ESAD-UK 5 41932484 41932484 single base substitution G A intron_variant ESAD-UK 5 41933617 41933617 insertion of <=200bp - C downstream_gene_variant ESAD-UK 5 41933617 41933617 insertion of <=200bp - C intron_variant ESAD-UK 5 41934911 41934911 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 41934911 41934911 single base substitution C T downstream_gene_variant ESAD-UK 5 41934911 41934911 single base substitution C T intron_variant ESAD-UK 5 41934911 41934911 single base substitution C T upstream_gene_variant ESAD-UK 5 41940377 41940377 insertion of <=200bp - T intron_variant ESAD-UK 5 41942576 41942583 deletion of <=200bp AATGGAGA - downstream_gene_variant ESAD-UK 5 41944400 41944400 single base substitution G C downstream_gene_variant ESAD-UK 5 41944414 41944414 single base substitution C A downstream_gene_variant ESCA-CN 5 41934350 41934350 single base substitution C G 3_prime_UTR_variant ESCA-CN 5 41934350 41934350 single base substitution C G downstream_gene_variant ESCA-CN 5 41934350 41934350 single base substitution C G missense_variant Q280E 838C>G GACA-CN 5 41927340 41927340 single base substitution T C exon_variant GACA-CN 5 41927340 41927340 single base substitution T C intron_variant GACA-CN 5 41927340 41927340 single base substitution T C missense_variant Y139H 415T>C KIRC-US 5 41927219 41927219 single base substitution G A exon_variant KIRC-US 5 41927219 41927219 single base substitution G A intron_variant KIRC-US 5 41927219 41927219 single base substitution G A synonymous_variant L98L 294G>A KIRC-US 5 41929897 41929897 single base substitution A G 3_prime_UTR_variant KIRC-US 5 41929897 41929897 single base substitution A G exon_variant KIRC-US 5 41929897 41929897 single base substitution A G missense_variant N175S 524A>G KIRC-US 5 41934379 41934379 single base substitution C T 3_prime_UTR_variant KIRC-US 5 41934379 41934379 single base substitution C T downstream_gene_variant KIRC-US 5 41934379 41934379 single base substitution C T synonymous_variant F289F 867C>T LAML-KR 5 41927543 41927543 single base substitution G A intron_variant LICA-FR 5 41927273 41927273 single base substitution G A exon_variant LICA-FR 5 41927273 41927273 single base substitution G A intron_variant LICA-FR 5 41927273 41927273 single base substitution G A synonymous_variant K116K 348G>A LICA-FR 5 41934391 41934391 insertion of <=200bp - A 3_prime_UTR_variant LICA-FR 5 41934391 41934391 insertion of <=200bp - A downstream_gene_variant LICA-FR 5 41934391 41934391 insertion of <=200bp - A frameshift_variant A293A? LICA-FR 5 41945133 41945133 single base substitution A G downstream_gene_variant LIHC-US 5 41927119 41927119 single base substitution A T exon_variant LIHC-US 5 41927119 41927119 single base substitution A T intron_variant LIHC-US 5 41927119 41927119 single base substitution A T missense_variant D65V 194A>T LINC-JP 5 41925623 41925623 single base substitution G T intron_variant LINC-JP 5 41925624 41925624 single base substitution G T intron_variant LINC-JP 5 41928070 41928070 single base substitution C A intron_variant LINC-JP 5 41939736 41939736 single base substitution C G downstream_gene_variant LINC-JP 5 41939736 41939736 single base substitution C G intron_variant LINC-JP 5 41945649 41945649 single base substitution G T downstream_gene_variant LIRI-JP 5 41921977 41921977 single base substitution T G upstream_gene_variant LIRI-JP 5 41922131 41922131 single base substitution A G upstream_gene_variant LIRI-JP 5 41923451 41923451 single base substitution A G upstream_gene_variant LIRI-JP 5 41923877 41923877 single base substitution C A upstream_gene_variant LIRI-JP 5 41924967 41924967 single base substitution C T upstream_gene_variant LIRI-JP 5 41925533 41925533 single base substitution A C exon_variant LIRI-JP 5 41925533 41925533 single base substitution A C missense_variant E41A 122A>C LIRI-JP 5 41929978 41929978 single base substitution A T 3_prime_UTR_variant LIRI-JP 5 41929978 41929978 single base substitution A T exon_variant LIRI-JP 5 41929978 41929978 single base substitution A T missense_variant E202V 605A>T LIRI-JP 5 41932435 41932435 single base substitution C A downstream_gene_variant LIRI-JP 5 41932435 41932435 single base substitution C A intron_variant LIRI-JP 5 41933520 41933520 single base substitution A G downstream_gene_variant LIRI-JP 5 41933520 41933520 single base substitution A G intron_variant LIRI-JP 5 41933528 41933528 single base substitution T A downstream_gene_variant LIRI-JP 5 41933528 41933528 single base substitution T A intron_variant LIRI-JP 5 41933668 41933668 single base substitution A C downstream_gene_variant LIRI-JP 5 41933668 41933668 single base substitution A C intron_variant LIRI-JP 5 41934236 41934236 single base substitution A G downstream_gene_variant LIRI-JP 5 41934236 41934236 single base substitution A G missense_variant K242E 724A>G LIRI-JP 5 41934236 41934236 single base substitution A G splice_region_variant LIRI-JP 5 41935119 41935119 single base substitution C A 3_prime_UTR_variant LIRI-JP 5 41935119 41935119 single base substitution C A downstream_gene_variant LIRI-JP 5 41935119 41935119 single base substitution C A intron_variant LIRI-JP 5 41935119 41935119 single base substitution C A upstream_gene_variant LIRI-JP 5 41936559 41936559 single base substitution C T downstream_gene_variant LIRI-JP 5 41936559 41936559 single base substitution C T intron_variant LIRI-JP 5 41936559 41936559 single base substitution C T upstream_gene_variant LIRI-JP 5 41937217 41937217 single base substitution A G downstream_gene_variant LIRI-JP 5 41937217 41937217 single base substitution A G intron_variant LIRI-JP 5 41937217 41937217 single base substitution A G upstream_gene_variant LIRI-JP 5 41939542 41939542 single base substitution G A downstream_gene_variant LIRI-JP 5 41939542 41939542 single base substitution G A exon_variant LIRI-JP 5 41939542 41939542 single base substitution G A intron_variant LIRI-JP 5 41939542 41939542 single base substitution G A splice_acceptor_variant LIRI-JP 5 41939623 41939623 single base substitution G T downstream_gene_variant LIRI-JP 5 41939623 41939623 single base substitution G T exon_variant LIRI-JP 5 41939623 41939623 single base substitution G T intron_variant LIRI-JP 5 41939623 41939623 single base substitution G T missense_variant V327F 979G>T LIRI-JP 5 41940816 41940816 single base substitution G C intron_variant LIRI-JP 5 41941913 41941913 single base substitution A G downstream_gene_variant LIRI-JP 5 41945372 41945372 single base substitution A G downstream_gene_variant LIRI-JP 5 41946474 41946474 single base substitution A G downstream_gene_variant LUSC-KR 5 41924991 41924991 single base substitution G T upstream_gene_variant LUSC-KR 5 41926404 41926404 single base substitution G T intron_variant LUSC-KR 5 41927277 41927277 single base substitution C G exon_variant LUSC-KR 5 41927277 41927277 single base substitution C G intron_variant LUSC-KR 5 41927277 41927277 single base substitution C G missense_variant L118V 352C>G LUSC-KR 5 41928579 41928579 single base substitution G A intron_variant LUSC-KR 5 41935919 41935919 single base substitution A G downstream_gene_variant LUSC-KR 5 41935919 41935919 single base substitution A G intron_variant LUSC-KR 5 41935919 41935919 single base substitution A G upstream_gene_variant LUSC-KR 5 41938785 41938785 single base substitution T C downstream_gene_variant LUSC-KR 5 41938785 41938785 single base substitution T C intron_variant LUSC-KR 5 41938785 41938785 single base substitution T C upstream_gene_variant LUSC-KR 5 41940390 41940390 single base substitution G T intron_variant LUSC-KR 5 41943560 41943560 single base substitution G T downstream_gene_variant LUSC-KR 5 41944263 41944263 single base substitution C A downstream_gene_variant LUSC-KR 5 41945406 41945406 single base substitution G C downstream_gene_variant LUSC-US 5 41927172 41927172 single base substitution G T exon_variant LUSC-US 5 41927172 41927172 single base substitution G T intron_variant LUSC-US 5 41927172 41927172 single base substitution G T stop_gained G83* 247G>T LUSC-US 5 41927220 41927220 single base substitution T C exon_variant LUSC-US 5 41927220 41927220 single base substitution T C intron_variant LUSC-US 5 41927220 41927220 single base substitution T C missense_variant W99R 295T>C LUSC-US 5 41927307 41927307 single base substitution A G exon_variant LUSC-US 5 41927307 41927307 single base substitution A G intron_variant LUSC-US 5 41927307 41927307 single base substitution A G missense_variant I128V 382A>G LUSC-US 5 41927343 41927343 single base substitution A C exon_variant LUSC-US 5 41927343 41927343 single base substitution A C intron_variant LUSC-US 5 41927343 41927343 single base substitution A C missense_variant M140L 418A>C LUSC-US 5 41941379 41941379 single base substitution G A 3_prime_UTR_variant LUSC-US 5 41941379 41941379 single base substitution G A exon_variant LUSC-US 5 41941379 41941379 single base substitution G A missense_variant R387K 1160G>A MALY-DE 5 41920902 41920902 single base substitution T C upstream_gene_variant MALY-DE 5 41921511 41921511 single base substitution T G upstream_gene_variant MALY-DE 5 41922901 41922901 single base substitution T C upstream_gene_variant MALY-DE 5 41926911 41926911 single base substitution T C intron_variant MALY-DE 5 41931829 41931829 single base substitution G T downstream_gene_variant MALY-DE 5 41931829 41931829 single base substitution G T intron_variant MALY-DE 5 41943775 41943775 single base substitution C T downstream_gene_variant MALY-DE 5 41944500 41944500 single base substitution T C downstream_gene_variant MELA-AU 5 41920615 41920615 single base substitution C T upstream_gene_variant MELA-AU 5 41921269 41921270 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 41921318 41921318 single base substitution C T upstream_gene_variant MELA-AU 5 41921571 41921571 single base substitution C T upstream_gene_variant MELA-AU 5 41921934 41921934 single base substitution A G upstream_gene_variant MELA-AU 5 41922573 41922573 single base substitution C A upstream_gene_variant MELA-AU 5 41923326 41923326 single base substitution C G upstream_gene_variant MELA-AU 5 41924368 41924368 single base substitution C T upstream_gene_variant MELA-AU 5 41924847 41924847 single base substitution C T upstream_gene_variant MELA-AU 5 41925112 41925112 single base substitution G A upstream_gene_variant MELA-AU 5 41928053 41928053 single base substitution G A intron_variant MELA-AU 5 41928100 41928100 single base substitution C T intron_variant MELA-AU 5 41928150 41928150 single base substitution T C intron_variant MELA-AU 5 41928556 41928556 single base substitution C T intron_variant MELA-AU 5 41929883 41929883 single base substitution C T 3_prime_UTR_variant MELA-AU 5 41929883 41929883 single base substitution C T exon_variant MELA-AU 5 41929883 41929883 single base substitution C T synonymous_variant S170S 510C>T MELA-AU 5 41931000 41931000 single base substitution C T downstream_gene_variant MELA-AU 5 41931000 41931000 single base substitution C T intron_variant MELA-AU 5 41931680 41931680 single base substitution T A downstream_gene_variant MELA-AU 5 41931680 41931680 single base substitution T A intron_variant MELA-AU 5 41931833 41931833 single base substitution C T downstream_gene_variant MELA-AU 5 41931833 41931833 single base substitution C T intron_variant MELA-AU 5 41932240 41932240 single base substitution C T downstream_gene_variant MELA-AU 5 41932240 41932240 single base substitution C T intron_variant MELA-AU 5 41932248 41932248 single base substitution C T downstream_gene_variant MELA-AU 5 41932248 41932248 single base substitution C T intron_variant MELA-AU 5 41932317 41932317 single base substitution T C downstream_gene_variant MELA-AU 5 41932317 41932317 single base substitution T C intron_variant MELA-AU 5 41933133 41933133 single base substitution C T downstream_gene_variant MELA-AU 5 41933133 41933133 single base substitution C T intron_variant MELA-AU 5 41933432 41933432 single base substitution C T downstream_gene_variant MELA-AU 5 41933432 41933432 single base substitution C T intron_variant MELA-AU 5 41934411 41934411 single base substitution G A 3_prime_UTR_variant MELA-AU 5 41934411 41934411 single base substitution G A downstream_gene_variant MELA-AU 5 41934411 41934411 single base substitution G A missense_variant S300N 899G>A MELA-AU 5 41934411 41934411 single base substitution G A splice_donor_variant MELA-AU 5 41934411 41934411 single base substitution G A upstream_gene_variant MELA-AU 5 41934642 41934642 single base substitution C T 3_prime_UTR_variant MELA-AU 5 41934642 41934642 single base substitution C T downstream_gene_variant MELA-AU 5 41934642 41934642 single base substitution C T intron_variant MELA-AU 5 41934642 41934642 single base substitution C T upstream_gene_variant MELA-AU 5 41934911 41934911 single base substitution C T 3_prime_UTR_variant MELA-AU 5 41934911 41934911 single base substitution C T downstream_gene_variant MELA-AU 5 41934911 41934911 single base substitution C T intron_variant MELA-AU 5 41934911 41934911 single base substitution C T upstream_gene_variant MELA-AU 5 41935008 41935008 single base substitution C T 3_prime_UTR_variant MELA-AU 5 41935008 41935008 single base substitution C T downstream_gene_variant MELA-AU 5 41935008 41935008 single base substitution C T intron_variant MELA-AU 5 41935008 41935008 single base substitution C T upstream_gene_variant MELA-AU 5 41935448 41935449 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 41935448 41935449 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 41935448 41935449 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 41935926 41935926 single base substitution C T downstream_gene_variant MELA-AU 5 41935926 41935926 single base substitution C T intron_variant MELA-AU 5 41935926 41935926 single base substitution C T upstream_gene_variant MELA-AU 5 41936518 41936518 single base substitution C T downstream_gene_variant MELA-AU 5 41936518 41936518 single base substitution C T intron_variant MELA-AU 5 41936518 41936518 single base substitution C T upstream_gene_variant MELA-AU 5 41937255 41937270 deletion of <=200bp AACAAACCACAGATTG - downstream_gene_variant MELA-AU 5 41937255 41937270 deletion of <=200bp AACAAACCACAGATTG - intron_variant MELA-AU 5 41937255 41937270 deletion of <=200bp AACAAACCACAGATTG - upstream_gene_variant MELA-AU 5 41938425 41938425 single base substitution C G downstream_gene_variant MELA-AU 5 41938425 41938425 single base substitution C G intron_variant MELA-AU 5 41938425 41938425 single base substitution C G upstream_gene_variant MELA-AU 5 41939084 41939084 single base substitution C T downstream_gene_variant MELA-AU 5 41939084 41939084 single base substitution C T intron_variant MELA-AU 5 41939084 41939084 single base substitution C T upstream_gene_variant MELA-AU 5 41939421 41939421 single base substitution C T downstream_gene_variant MELA-AU 5 41939421 41939421 single base substitution C T exon_variant MELA-AU 5 41939421 41939421 single base substitution C T intron_variant MELA-AU 5 41939606 41939606 single base substitution C T downstream_gene_variant MELA-AU 5 41939606 41939606 single base substitution C T exon_variant MELA-AU 5 41939606 41939606 single base substitution C T intron_variant MELA-AU 5 41939606 41939606 single base substitution C T missense_variant S321L 962C>T MELA-AU 5 41939885 41939885 single base substitution C T downstream_gene_variant MELA-AU 5 41939885 41939885 single base substitution C T intron_variant MELA-AU 5 41940315 41940315 single base substitution G A intron_variant MELA-AU 5 41940337 41940337 single base substitution C T intron_variant MELA-AU 5 41940390 41940390 single base substitution G A intron_variant MELA-AU 5 41940794 41940794 single base substitution C T intron_variant MELA-AU 5 41940865 41940865 single base substitution C T intron_variant MELA-AU 5 41941003 41941003 single base substitution G A intron_variant MELA-AU 5 41941009 41941009 single base substitution T G intron_variant MELA-AU 5 41941170 41941170 single base substitution C T intron_variant MELA-AU 5 41942073 41942073 single base substitution C T downstream_gene_variant MELA-AU 5 41942206 41942206 single base substitution C T downstream_gene_variant MELA-AU 5 41942617 41942617 single base substitution C T downstream_gene_variant MELA-AU 5 41942877 41942877 single base substitution C T downstream_gene_variant MELA-AU 5 41943137 41943137 single base substitution G A downstream_gene_variant MELA-AU 5 41943393 41943393 single base substitution C T downstream_gene_variant MELA-AU 5 41943775 41943775 single base substitution C T downstream_gene_variant MELA-AU 5 41943999 41943999 single base substitution G A downstream_gene_variant MELA-AU 5 41945136 41945136 single base substitution T C downstream_gene_variant MELA-AU 5 41945663 41945663 insertion of <=200bp - A downstream_gene_variant MELA-AU 5 41946123 41946123 single base substitution C T downstream_gene_variant ORCA-IN 5 41929877 41929877 single base substitution A C 3_prime_UTR_variant ORCA-IN 5 41929877 41929877 single base substitution A C exon_variant ORCA-IN 5 41929877 41929877 single base substitution A C missense_variant L168F 504A>C OV-AU 5 41922694 41922694 single base substitution G A upstream_gene_variant OV-AU 5 41924985 41924985 single base substitution A G upstream_gene_variant OV-AU 5 41925065 41925065 single base substitution A C upstream_gene_variant OV-AU 5 41928338 41928338 single base substitution T A intron_variant OV-AU 5 41929840 41929840 single base substitution C T 3_prime_UTR_variant OV-AU 5 41929840 41929840 single base substitution C T exon_variant OV-AU 5 41929840 41929840 single base substitution C T missense_variant S156F 467C>T OV-AU 5 41940642 41940642 single base substitution G C intron_variant OV-AU 5 41941286 41941286 single base substitution A G intron_variant OV-AU 5 41941791 41941791 single base substitution C T 3_prime_UTR_variant OV-AU 5 41941791 41941791 single base substitution C T downstream_gene_variant OV-AU 5 41945538 41945538 single base substitution T C downstream_gene_variant PACA-AU 5 41922691 41922691 single base substitution T C upstream_gene_variant PACA-AU 5 41926524 41926524 single base substitution A G intron_variant PACA-AU 5 41926720 41926720 single base substitution T G intron_variant PACA-AU 5 41929906 41929906 single base substitution G A 3_prime_UTR_variant PACA-AU 5 41929906 41929906 single base substitution G A exon_variant PACA-AU 5 41929906 41929906 single base substitution G A missense_variant R178Q 533G>A PACA-AU 5 41930448 41930448 deletion of <=200bp A - downstream_gene_variant PACA-AU 5 41930448 41930448 deletion of <=200bp A - intron_variant PACA-AU 5 41937550 41937550 single base substitution T C downstream_gene_variant PACA-AU 5 41937550 41937550 single base substitution T C intron_variant PACA-AU 5 41937550 41937550 single base substitution T C upstream_gene_variant PACA-AU 5 41937851 41937851 single base substitution G A downstream_gene_variant PACA-AU 5 41937851 41937851 single base substitution G A intron_variant PACA-AU 5 41937851 41937851 single base substitution G A upstream_gene_variant PACA-AU 5 41945239 41945239 single base substitution A G downstream_gene_variant PACA-CA 5 41921714 41921714 single base substitution A T upstream_gene_variant PACA-CA 5 41922248 41922248 single base substitution G C upstream_gene_variant PACA-CA 5 41922680 41922680 insertion of <=200bp - TA upstream_gene_variant PACA-CA 5 41925852 41925852 single base substitution C G intron_variant PACA-CA 5 41926579 41926579 single base substitution G A intron_variant PACA-CA 5 41932677 41932677 single base substitution G C downstream_gene_variant PACA-CA 5 41932677 41932677 single base substitution G C intron_variant PACA-CA 5 41933991 41933991 single base substitution G A downstream_gene_variant PACA-CA 5 41933991 41933991 single base substitution G A intron_variant PACA-CA 5 41936821 41936821 single base substitution C A downstream_gene_variant PACA-CA 5 41936821 41936821 single base substitution C A intron_variant PACA-CA 5 41936821 41936821 single base substitution C A upstream_gene_variant PACA-CA 5 41938178 41938178 single base substitution G A downstream_gene_variant PACA-CA 5 41938178 41938178 single base substitution G A intron_variant PACA-CA 5 41938178 41938178 single base substitution G A upstream_gene_variant PACA-CA 5 41940490 41940490 single base substitution A C intron_variant PACA-CA 5 41944730 41944730 single base substitution C T downstream_gene_variant PACA-CA 5 41945262 41945262 single base substitution A T downstream_gene_variant PACA-CA 5 41946278 41946278 single base substitution C G downstream_gene_variant PAEN-AU 5 41946334 41946334 single base substitution A G downstream_gene_variant PBCA-DE 5 41924053 41924053 single base substitution T G upstream_gene_variant PBCA-DE 5 41930881 41930881 single base substitution C T downstream_gene_variant PBCA-DE 5 41930881 41930881 single base substitution C T intron_variant PBCA-DE 5 41934225 41934225 single base substitution T G downstream_gene_variant PBCA-DE 5 41934225 41934225 single base substitution T G intron_variant PBCA-DE 5 41940135 41940135 deletion of <=200bp T - downstream_gene_variant PBCA-DE 5 41940135 41940135 deletion of <=200bp T - intron_variant PBCA-DE 5 41940326 41940326 single base substitution G A intron_variant PRAD-CA 5 41935859 41935859 single base substitution A G downstream_gene_variant PRAD-CA 5 41935859 41935859 single base substitution A G intron_variant PRAD-CA 5 41935859 41935859 single base substitution A G upstream_gene_variant PRAD-CA 5 41941760 41941760 single base substitution T G 3_prime_UTR_variant PRAD-CA 5 41941760 41941760 single base substitution T G downstream_gene_variant PRAD-UK 5 41930082 41930082 single base substitution G T downstream_gene_variant PRAD-UK 5 41930082 41930082 single base substitution G T exon_variant PRAD-UK 5 41930082 41930082 single base substitution G T intron_variant PRAD-UK 5 41939071 41939071 single base substitution T C downstream_gene_variant PRAD-UK 5 41939071 41939071 single base substitution T C intron_variant PRAD-UK 5 41939071 41939071 single base substitution T C upstream_gene_variant PRAD-US 5 41927295 41927296 deletion of <=200bp TT - exon_variant PRAD-US 5 41927295 41927296 deletion of <=200bp TT - frameshift_variant L124 PRAD-US 5 41927295 41927296 deletion of <=200bp TT - intron_variant RECA-EU 5 41921939 41921939 single base substitution G T upstream_gene_variant RECA-EU 5 41923140 41923140 single base substitution G A upstream_gene_variant RECA-EU 5 41928820 41928820 single base substitution G C intron_variant RECA-EU 5 41935716 41935716 single base substitution C A downstream_gene_variant RECA-EU 5 41935716 41935716 single base substitution C A intron_variant RECA-EU 5 41935716 41935716 single base substitution C A upstream_gene_variant RECA-EU 5 41937227 41937227 single base substitution C T downstream_gene_variant RECA-EU 5 41937227 41937227 single base substitution C T intron_variant RECA-EU 5 41937227 41937227 single base substitution C T upstream_gene_variant RECA-EU 5 41943507 41943507 single base substitution A T downstream_gene_variant RECA-EU 5 41945249 41945249 single base substitution G A downstream_gene_variant RECA-EU 5 41945250 41945250 single base substitution C T downstream_gene_variant RECA-EU 5 41946241 41946241 single base substitution G T downstream_gene_variant SKCA-BR 5 41921488 41921488 single base substitution C T upstream_gene_variant SKCA-BR 5 41921504 41921504 single base substitution C T upstream_gene_variant SKCA-BR 5 41923495 41923495 single base substitution C G upstream_gene_variant SKCA-BR 5 41925871 41925871 single base substitution T C intron_variant SKCA-BR 5 41929472 41929472 single base substitution T C intron_variant SKCA-BR 5 41934715 41934715 single base substitution C T 3_prime_UTR_variant SKCA-BR 5 41934715 41934715 single base substitution C T downstream_gene_variant SKCA-BR 5 41934715 41934715 single base substitution C T intron_variant SKCA-BR 5 41934715 41934715 single base substitution C T upstream_gene_variant SKCA-BR 5 41938991 41938991 single base substitution C T downstream_gene_variant SKCA-BR 5 41938991 41938991 single base substitution C T intron_variant SKCA-BR 5 41938991 41938991 single base substitution C T upstream_gene_variant SKCA-BR 5 41939972 41939972 single base substitution G C downstream_gene_variant SKCA-BR 5 41939972 41939972 single base substitution G C intron_variant SKCA-BR 5 41940604 41940604 single base substitution T C intron_variant SKCA-BR 5 41940607 41940607 single base substitution A C intron_variant SKCA-BR 5 41940785 41940785 single base substitution T A intron_variant SKCA-BR 5 41941076 41941076 single base substitution C T intron_variant SKCA-BR 5 41942528 41942528 single base substitution T A downstream_gene_variant SKCA-BR 5 41946529 41946529 single base substitution T G downstream_gene_variant SKCM-US 5 41929924 41929924 single base substitution C T 3_prime_UTR_variant SKCM-US 5 41929924 41929924 single base substitution C T exon_variant SKCM-US 5 41929924 41929924 single base substitution C T missense_variant P184L 551C>T SKCM-US 5 41934071 41934071 single base substitution C T 3_prime_UTR_variant SKCM-US 5 41934071 41934071 single base substitution C T downstream_gene_variant SKCM-US 5 41934071 41934071 single base substitution C T stop_gained Q224* 670C>T SKCM-US 5 41941382 41941382 single base substitution G T 3_prime_UTR_variant SKCM-US 5 41941382 41941382 single base substitution G T exon_variant SKCM-US 5 41941382 41941382 single base substitution G T stop_lost *388L 1163G>T STAD-US 5 41927177 41927177 single base substitution T C exon_variant STAD-US 5 41927177 41927177 single base substitution T C intron_variant STAD-US 5 41927177 41927177 single base substitution T C synonymous_variant S84S 252T>C STAD-US 5 41927195 41927195 single base substitution T C exon_variant STAD-US 5 41927195 41927195 single base substitution T C intron_variant STAD-US 5 41927195 41927195 single base substitution T C synonymous_variant N90N 270T>C STAD-US 5 41927319 41927319 single base substitution A G exon_variant STAD-US 5 41927319 41927319 single base substitution A G intron_variant STAD-US 5 41927319 41927319 single base substitution A G missense_variant T132A 394A>G STAD-US 5 41927346 41927346 single base substitution G A exon_variant STAD-US 5 41927346 41927346 single base substitution G A intron_variant STAD-US 5 41927346 41927346 single base substitution G A missense_variant A141T 421G>A STAD-US 5 41929871 41929871 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 5 41929871 41929871 deletion of <=200bp T - exon_variant STAD-US 5 41929871 41929871 deletion of <=200bp T - frameshift_variant S166 STAD-US 5 41934278 41934278 single base substitution A C 3_prime_UTR_variant STAD-US 5 41934278 41934278 single base substitution A C downstream_gene_variant STAD-US 5 41934278 41934278 single base substitution A C missense_variant N256H 766A>C STAD-US 5 41941319 41941319 single base substitution T C 3_prime_UTR_variant STAD-US 5 41941319 41941319 single base substitution T C exon_variant STAD-US 5 41941319 41941319 single base substitution T C missense_variant L367P 1100T>C STAD-US 5 41941337 41941337 single base substitution G A 3_prime_UTR_variant STAD-US 5 41941337 41941337 single base substitution G A exon_variant STAD-US 5 41941337 41941337 single base substitution G A missense_variant G373D 1118G>A UCEC-US 5 41929921 41929921 single base substitution G A 3_prime_UTR_variant UCEC-US 5 41929921 41929921 single base substitution G A exon_variant UCEC-US 5 41929921 41929921 single base substitution G A missense_variant G183E 548G>A UCEC-US 5 41929935 41929935 single base substitution G T 3_prime_UTR_variant UCEC-US 5 41929935 41929935 single base substitution G T exon_variant UCEC-US 5 41929935 41929935 single base substitution G T stop_gained E188* 562G>T UCEC-US 5 41934123 41934123 single base substitution G T downstream_gene_variant UCEC-US 5 41934123 41934123 single base substitution G T missense_variant R241I 722G>T UCEC-US 5 41934123 41934123 single base substitution G T splice_region_variant UCEC-US 5 41941323 41941323 single base substitution T C 3_prime_UTR_variant UCEC-US 5 41941323 41941323 single base substitution T C exon_variant UCEC-US 5 41941323 41941323 single base substitution T C synonymous_variant T368T 1104T>C UCEC-US 5 41941351 41941351 single base substitution C A 3_prime_UTR_variant UCEC-US 5 41941351 41941351 single base substitution C A exon_variant UCEC-US 5 41941351 41941351 single base substitution C A missense_variant L378I 1132C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BS-A0TC-01 COSM1068342 c.1132C>A p.L378I Substitution - Missense 5:41941249-41941249 + TCGA-G9-6342-01 COSM3674448 c.978G>T p.L326F Substitution - Missense 5:41939520-41939520 + RKO COSM3342413 c.983T>C p.L328S Substitution - Missense 5:41939525-41939525 + TCGA-BR-A4QL-01 COSM3855332 c.1100T>C p.L367P Substitution - Missense 5:41941217-41941217 + 2492729 COSM5726518 c.350C>T p.S117F Substitution - Missense 5:41927173-41927173 + CCK81 COSM4620819 c.166G>A p.A56T Substitution - Missense 5:41925475-41925475 + ESCC_86 COSM5636609 c.172A>C p.T58P Substitution - Missense 5:41925481-41925481 + TCGA-22-4601-01 COSM738741 c.1160G>A p.R387K Substitution - Missense 5:41941277-41941277 + EV001-M1 COSM4410568 c.722+1G>C p.? Unknown 5:41934022-41934022 + Gp2D COSM3342393 c.407T>C p.F136S Substitution - Missense 5:41927230-41927230 + TCGA-BR-A4QL-01 COSM3342420 c.1118G>A p.G373D Substitution - Missense 5:41941235-41941235 + RK003_C COSM53411 c.724A>G p.K242E Substitution - Missense 5:41934134-41934134 + TCGA-AA-3715-01 COSM269158 c.553G>A p.G185S Substitution - Missense 5:41929824-41929824 + YUDEXA COSM1695735 c.509C>T p.S170F Substitution - Missense 5:41929780-41929780 + J80_T COSM3947553 c.352C>G p.L118V Substitution - Missense 5:41927175-41927175 + TCGA-AA-3510-01 COSM1437639 c.1153C>T p.R385C Substitution - Missense 5:41941270-41941270 + TCGA-FS-A1Z3-06 COSM3616664 c.670C>T p.Q224* Substitution - Nonsense 5:41933969-41933969 + Gp5D COSM3342393 c.407T>C p.F136S Substitution - Missense 5:41927230-41927230 + TCGA-AA-3681-01 COSM268055 c.898+4A>G p.? Unknown 5:41934312-41934312 + TCGA-CH-5738-01 COSM1132159 c.782G>T p.R261L Substitution - Missense 5:41934192-41934192 + TCGA-B0-4837-01 COSM3366076 c.524A>G p.N175S Substitution - Missense 5:41929795-41929795 + AOCS-120-3-6 COSM4141823 c.467C>T p.S156F Substitution - Missense 5:41929738-41929738 + TCGA-CG-5721-01 COSM3855322 c.252T>C p.S84S Substitution - coding silent 5:41927075-41927075 + 16 COSM3735666 c.485G>A p.G162E Substitution - Missense 5:41929756-41929756 + TCGA-46-3765-01 COSM738745 c.247G>T p.G83* Substitution - Nonsense 5:41927070-41927070 + TCGA-AN-A046-01 COSM1068342 c.1132C>A p.L378I Substitution - Missense 5:41941249-41941249 + 001 COSM1161945 c.720C>G p.T240T Substitution - coding silent 5:41934019-41934019 + PD4003a COSM161017 c.924T>G p.S308S Substitution - coding silent 5:41939466-41939466 + TCGA-21-5787-01 COSM738742 c.418A>C p.M140L Substitution - Missense 5:41927241-41927241 + PT23_2 COSM5903537 c.815G>A p.R272Q Substitution - Missense 5:41934225-41934225 + TCGA-BR-6452-01 COSM3855326 c.394A>G p.T132A Substitution - Missense 5:41927217-41927217 + LUAD-S01478 COSM400017 c.647G>T p.G216V Substitution - Missense 5:41933946-41933946 + pfg020T COSM1642746 c.1084_1085delAC p.T362fs*3 Deletion - Frameshift 5:41941201-41941202 + CHC258T COSM3669464 c.348G>A p.K116K Substitution - coding silent 5:41927171-41927171 + TCGA-EK-A2H1-01 COSM4822288 c.229C>T p.H77Y Substitution - Missense 5:41927052-41927052 + RK200_C01 COSM3744885 c.899-1G>A p.? Unknown 5:41939440-41939440 + ORL-48 COSM4597080 c.479T>C p.M160T Substitution - Missense 5:41929750-41929750 + HT115 COSM3342392 c.377A>G p.K126R Substitution - Missense 5:41927200-41927200 + HH14 COSM3728066 c.1025T>C p.F342S Substitution - Missense 5:41939567-41939567 + TCGA-BR-4184-01 COSM3855328 c.421G>A p.A141T Substitution - Missense 5:41927244-41927244 + TCGA-CJ-5679-01 COSM482838 c.294G>A p.L98L Substitution - coding silent 5:41927117-41927117 + 2250239 COSM5030691 c.898delA p.R300fs*14 Deletion - Frameshift 5:41934308-41934308 + TCGA-39-5030-01 COSM738744 c.295T>C p.W99R Substitution - Missense 5:41927118-41927118 + RK181_C01 COSM3744883 c.605A>T p.E202V Substitution - Missense 5:41929876-41929876 + TCGA-ER-A193-06 COSM3616666 c.1163G>T p.*388L Nonstop extension 5:41941280-41941280 + EV001-M2b COSM4410568 c.722+1G>C p.? Unknown 5:41934022-41934022 + TCGA-CZ-5988-01 COSM482839 c.867C>T p.F289F Substitution - coding silent 5:41934277-41934277 + TCGA-BS-A0UJ-01 COSM1068341 c.1104T>C p.T368T Substitution - coding silent 5:41941221-41941221 + TCGA-BT-A20T-01 COSM420696 c.562G>A p.E188K Substitution - Missense 5:41929833-41929833 + GC1_T COSM149822 c.415T>C p.Y139H Substitution - Missense 5:41927238-41927238 + TCGA-66-2786-01 COSM738743 c.382A>G p.I128V Substitution - Missense 5:41927205-41927205 + TCGA-D1-A103-01 COSM1068337 c.548G>A p.G183E Substitution - Missense 5:41929819-41929819 + sysucc-809T COSM5468265 c.834G>A p.Q278Q Substitution - coding silent 5:41934244-41934244 + C086 COSM5531118 c.1057C>T p.L353L Substitution - coding silent 5:41939599-41939599 + RK059_C01 COSM3744886 c.979G>T p.V327F Substitution - Missense 5:41939521-41939521 + TCGA-FW-A3R5-06 COSM3920108 c.551C>T p.P184L Substitution - Missense 5:41929822-41929822 + LUAD_E00522 COSM353376 c.554G>T p.G185V Substitution - Missense 5:41929825-41929825 + TCGA-B5-A11O-01 COSM1068339 c.603G>T p.E201D Substitution - Missense 5:41929874-41929874 + TCGA-DM-A28C-01 COSM1437637 c.167C>T p.A56V Substitution - Missense 5:41925476-41925476 + C70 COSM4619592 c.77C>T p.A26V Substitution - Missense 5:41925386-41925386 + EV001-M2a COSM4410568 c.722+1G>C p.? Unknown 5:41934022-41934022 + TCGA-AP-A059-01 COSM1068340 c.722G>T p.R241I Substitution - Missense 5:41934021-41934021 + T1154 COSM4683993 c.903T>C p.H301H Substitution - coding silent 5:41939445-41939445 + S01020 COSM5665286 c.440G>T p.C147F Substitution - Missense 5:41929711-41929711 + 8035732 COSM3393590 c.533G>A p.R178Q Substitution - Missense 5:41929804-41929804 + TCGA-HU-A4G8-01 COSM3855324 c.270T>C p.N90N Substitution - coding silent 5:41927093-41927093 + TCGA-CU-A0YN-01 COSM420697 c.208A>G p.I70V Substitution - Missense 5:41927031-41927031 + TCGA-AX-A0J0-01 COSM1068338 c.562G>T p.E188* Substitution - Nonsense 5:41929833-41929833 + LUAD-E00918 COSM365313 c.899-1_899GG>TT p.? Unknown 5:41939440-41939441 + CHC258T COSM3669464 c.348G>A p.K116K Substitution - coding silent 5:41927171-41927171 + TCGA-DM-A1D4-01 COSM1437638 c.404C>T p.A135V Substitution - Missense 5:41927227-41927227 + LUAD-CHTN-MAD06-00668 COSM360032 c.476C>A p.P159H Substitution - Missense 5:41929747-41929747 + TCGA-A1-A0SH-01 COSM449686 c.727G>T p.E243* Substitution - Nonsense 5:41934137-41934137 + TCGA-G3-A5SM-01 COSM4911193 c.194A>T p.D65V Substitution - Missense 5:41927017-41927017 + TCGA-D7-8578-01 COSM3855330 c.766A>C p.N256H Substitution - Missense 5:41934176-41934176 + AOCS-104-1-6 COSM4141825 c.1075-8A>G p.? Unknown 5:41941184-41941184 + OSCC-GB_00750111 COSM4891158 c.504A>C p.L168F Substitution - Missense 5:41929775-41929775 + ESCC_BICR_023T COSM5436495 c.838C>G p.Q280E Substitution - Missense 5:41934248-41934248 + CHC1592T COSM5348610 c.881_882insA p.N294fs*3 Insertion - Frameshift 5:41934291-41934292 + TCGA-FD-A3B3-01 COSM1311159 c.601G>A p.E201K Substitution - Missense 5:41929872-41929872 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.165575 5p12 609090

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AC - Frameshift p.T362Rfs*3 c.1085_1086delCA 5 41941303 STAD A C Missense p.K384T c.1151A>C 5 41941370 MM A C Missense p.M140L c.418A>C 5 41927343 LUSC A G IntronicSNV . c.898+4A>G 5 41934414 COREAD A G Missense p.I128V c.382A>G 5 41927307 LUSC A G Missense p.I70V c.208A>G 5 41927133 BLCA A G Missense p.K242E c.724A>G 5 41934236 HC A G Missense p.N175S c.524A>G 5 41929897 RCCC A G Synonymous p.L328L c.984A>G 5 41939628 HNSC A T Missense p.E201V c.602A>T 5 41929975 LUAD C A Missense p.L378I c.1132C>A 5 41941351 UCEC C G Missense p.I235M c.705C>G 5 41934106 HNSC C T IntronicSNV . c.899-122C>T 5 41939421 CM C T Nonsense p.Q224* c.670C>T 5 41934071 CM C T Synonymous p.F231F c.693C>T 5 41934094 LUAD C T Synonymous p.F289F c.867C>T 5 41934379 RCCC C T Synonymous p.L171L c.511C>T 5 41929884 HNSC G A Missense p.A295T c.883G>A 5 41934395 CM G A Missense p.E188K c.562G>A 5 41929935 BLCA G A Missense p.E201K c.601G>A 5 41929974 BLCA G A Missense p.R387K c.1160G>A 5 41941379 LUSC G A Synonymous p.K384K c.1152G>A 5 41941371 COREAD G A Synonymous p.L98L c.294G>A 5 41927219 RCCC G T 3-UTRSNV . c.1161+2G>T 5 41941382 CM G T Missense p.K126N c.378G>T 5 41927303 LUAD G T Nonsense p.E243* c.727G>T 5 41934239 BRCA G T Nonsense p.G83* c.247G>T 5 41927172 LUSC T C Missense p.W99R c.295T>C 5 41927220 LUSC T G Synonymous p.S308S c.924T>G 5 41939568 BRCA TT - Frameshift p.L124Kfs*6 c.370_371delTT 5 41927295 PRAD