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 111983905 111983905 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr1:111983905C>T c.976G>A c.(976-978)Gtt>Att p.V326I BLCA 1 111989760 111989760 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr1:111989760C>T c.450G>A c.(448-450)aaG>aaA p.K150K BLCA 1 111991326 111991326 + Missense_Mutation SNP G G C TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr1:111991326G>C c.216C>G c.(214-216)ttC>ttG p.F72L BLCA 1 111991710 111991710 + Nonsense_Mutation SNP C C A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:111991710C>A c.82G>T c.(82-84)Gaa>Taa p.E28* COAD 1 111983960 111983960 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:111983960C>T c.921G>A c.(919-921)ccG>ccA p.P307P COADREAD 1 111983960 111983960 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:111983960C>T c.921G>A c.(919-921)ccG>ccA p.P307P COADREAD 1 111991767 111991767 + Frame_Shift_Del DEL G G - TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr1:111991767delG c.25delC c.(25-27)ctafs p.L9fs GBMLGG 1 111985359 111985359 + Missense_Mutation SNP A A G TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 g.chr1:111985359A>G c.716T>C c.(715-717)cTt>cCt p.L239P GBMLGG 1 111989719 111989719 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:111989719C>T c.491G>A c.(490-492)cGa>cAa p.R164Q HNSC 1 111985333 111985333 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 g.chr1:111985333C>T c.742G>A c.(742-744)Gtc>Atc p.V248I HNSC 1 111986017 111986018 + Splice_Site INS - - A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 g.chr1:111986017_111986018insA c.e7-1 HNSC 1 111989744 111989744 + Nonsense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr1:111989744G>A c.466C>T c.(466-468)Cag>Tag p.Q156* HNSC 1 111990152 111990152 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr1:111990152G>A c.348C>T c.(346-348)gtC>gtT p.V116V HNSC 1 111991351 111991351 + Missense_Mutation SNP G G A TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr1:111991351G>A c.191C>T c.(190-192)cCc>cTc p.P64L KIPAN 1 111989749 111989749 + Missense_Mutation SNP A A C TCGA-CJ-4636-01A-02D-1386-10 TCGA-CJ-4636-11A-01D-1251-10 g.chr1:111989749A>C c.461T>G c.(460-462)cTt>cGt p.L154R KIPAN 1 111990187 111990187 + Missense_Mutation SNP A A T TCGA-2Z-A9JS-01A-21D-A42J-10 TCGA-2Z-A9JS-10A-01D-A42M-10 g.chr1:111990187A>T c.313T>A c.(313-315)Ttg>Atg p.L105M KIPAN 1 111990200 111990200 + Splice_Site SNP T T A TCGA-AK-3430-01A-01D-1251-10 TCGA-AK-3430-10A-01D-1251-10 g.chr1:111990200T>A c.e3-2 KIRC 1 111989749 111989749 + Missense_Mutation SNP A A C TCGA-CJ-4636-01A-02D-1386-10 TCGA-CJ-4636-11A-01D-1251-10 g.chr1:111989749A>C c.461T>G c.(460-462)cTt>cGt p.L154R KIRC 1 111990200 111990200 + Splice_Site SNP T T A TCGA-AK-3430-01A-01D-1251-10 TCGA-AK-3430-10A-01D-1251-10 g.chr1:111990200T>A c.e3-2 KIRP 1 111990187 111990187 + Missense_Mutation SNP A A T TCGA-2Z-A9JS-01A-21D-A42J-10 TCGA-2Z-A9JS-10A-01D-A42M-10 g.chr1:111990187A>T c.313T>A c.(313-315)Ttg>Atg p.L105M LGG 1 111985359 111985359 + Missense_Mutation SNP A A G TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 g.chr1:111985359A>G c.716T>C c.(715-717)cTt>cCt p.L239P LGG 1 111989719 111989719 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:111989719C>T c.491G>A c.(490-492)cGa>cAa p.R164Q LIHC 1 111986674 111986674 + Splice_Site SNP A A C TCGA-DD-AADD-01A-11D-A40R-10 TCGA-DD-AADD-10A-01D-A40U-10 g.chr1:111986674A>C c.e5+1 LUAD 1 111983962 111983962 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr1:111983962G>A c.919C>T c.(919-921)Ccg>Tcg p.P307S LUAD 1 111984672 111984672 + Missense_Mutation SNP C C T TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr1:111984672C>T c.844G>A c.(844-846)Gtg>Atg p.V282M LUAD 1 111985355 111985355 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr1:111985355C>G c.720G>C c.(718-720)gtG>gtC p.V240V LUAD 1 111986713 111986713 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr1:111986713G>A c.527C>T c.(526-528)tCt>tTt p.S176F LUAD 1 111991375 111991375 + Missense_Mutation SNP C C G TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr1:111991375C>G c.167G>C c.(166-168)gGc>gCc p.G56A LUAD 1 111991766 111991767 + Frame_Shift_Ins INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 g.chr1:111991766_111991767insG c.25_26insC c.(25-27)ctafs p.L9fs PAAD 1 111984012 111984012 + Splice_Site SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:111984012C>T c.e10-1 PAAD 1 111991320 111991320 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 g.chr1:111991320G>A c.222C>T c.(220-222)tcC>tcT p.S74S PRAD 1 111983947 111983947 + Missense_Mutation SNP G G C TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 g.chr1:111983947G>C c.934C>G c.(934-936)Ctg>Gtg p.L312V PRAD 1 111983955 111983955 + Missense_Mutation SNP T T C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 g.chr1:111983955T>C c.926A>G c.(925-927)aAt>aGt p.N309S PRAD 1 111983960 111983960 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:111983960C>T c.921G>A c.(919-921)ccG>ccA p.P307P READ 1 111991767 111991767 + Frame_Shift_Del DEL G G - TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr1:111991767delG c.25delC c.(25-27)ctafs p.L9fs SARC 1 111984657 111984657 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr1:111984657G>A c.859C>T c.(859-861)Ctt>Ttt p.L287F SKCM 1 111983920 111983920 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:111983920G>A c.961C>T c.(961-963)Cag>Tag p.Q321* SKCM 1 111991770 111991770 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:111991770G>A c.22C>T c.(22-24)Ccc>Tcc p.P8S

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 111996869 111996869 single base substitution G C upstream_gene_variant BLCA-CN 1 111996936 111996936 single base substitution G A upstream_gene_variant BLCA-US 1 111983905 111983905 single base substitution C T downstream_gene_variant BLCA-US 1 111983905 111983905 single base substitution C T missense_variant V262I 784G>A BLCA-US 1 111983905 111983905 single base substitution C T missense_variant V274I 820G>A BLCA-US 1 111983905 111983905 single base substitution C T missense_variant V326I 976G>A BLCA-US 1 111989760 111989760 single base substitution C T exon_variant BLCA-US 1 111989760 111989760 single base substitution C T intron_variant BLCA-US 1 111989760 111989760 single base substitution C T synonymous_variant K150K 450G>A BLCA-US 1 111989760 111989760 single base substitution C T synonymous_variant K86K 258G>A BRCA-EU 1 111978073 111978073 single base substitution G A downstream_gene_variant BRCA-EU 1 111978626 111978626 single base substitution C T downstream_gene_variant BRCA-EU 1 111980847 111980847 single base substitution G C downstream_gene_variant BRCA-EU 1 111983363 111983363 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 111983363 111983363 single base substitution G A downstream_gene_variant BRCA-EU 1 111983397 111983397 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 111983397 111983397 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 111984728 111984728 single base substitution G A downstream_gene_variant BRCA-EU 1 111984728 111984728 single base substitution G A intron_variant BRCA-EU 1 111984728 111984728 single base substitution G A missense_variant P211L 632C>T BRCA-EU 1 111985728 111985728 single base substitution C G downstream_gene_variant BRCA-EU 1 111985728 111985728 single base substitution C G intron_variant BRCA-EU 1 111988764 111988764 single base substitution G A intron_variant BRCA-EU 1 111988934 111988934 single base substitution G A intron_variant BRCA-EU 1 111989321 111989321 single base substitution T A intron_variant BRCA-EU 1 111991661 111991661 single base substitution C T intron_variant BRCA-EU 1 111991661 111991661 single base substitution C T upstream_gene_variant BRCA-EU 1 111991840 111991840 single base substitution G C 5_prime_UTR_variant BRCA-EU 1 111991840 111991840 single base substitution G C upstream_gene_variant BRCA-EU 1 111991943 111991943 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 111991943 111991943 single base substitution C T upstream_gene_variant BRCA-EU 1 111992302 111992302 single base substitution G C upstream_gene_variant BRCA-EU 1 111992552 111992552 single base substitution G T upstream_gene_variant BRCA-EU 1 111993367 111993367 single base substitution T C upstream_gene_variant BRCA-EU 1 111996123 111996123 single base substitution C T upstream_gene_variant BRCA-EU 1 111996326 111996326 single base substitution G A upstream_gene_variant BRCA-EU 1 111996936 111996936 single base substitution G C upstream_gene_variant BRCA-FR 1 111980847 111980847 single base substitution G C downstream_gene_variant BRCA-FR 1 111983363 111983363 single base substitution G A 3_prime_UTR_variant BRCA-FR 1 111983363 111983363 single base substitution G A downstream_gene_variant BRCA-FR 1 111991661 111991661 single base substitution C T intron_variant BRCA-FR 1 111991661 111991661 single base substitution C T upstream_gene_variant BRCA-FR 1 111991840 111991840 single base substitution G C 5_prime_UTR_variant BRCA-FR 1 111991840 111991840 single base substitution G C upstream_gene_variant BRCA-FR 1 111992302 111992302 single base substitution G C upstream_gene_variant BRCA-FR 1 111996123 111996123 single base substitution C T upstream_gene_variant BRCA-US 1 111996910 111996910 single base substitution G T upstream_gene_variant BTCA-JP 1 111984528 111984528 single base substitution C T downstream_gene_variant BTCA-JP 1 111984528 111984528 single base substitution C T intron_variant BTCA-JP 1 111991404 111991404 single base substitution G A exon_variant BTCA-JP 1 111991404 111991404 single base substitution G A synonymous_variant A46A 138C>T BTCA-JP 1 111991404 111991404 single base substitution G A upstream_gene_variant BTCA-JP 1 111991767 111991767 deletion of <=200bp G - frameshift_variant L9 BTCA-JP 1 111991767 111991767 deletion of <=200bp G - upstream_gene_variant BTCA-JP 1 111992439 111992439 single base substitution T G upstream_gene_variant CESC-US 1 111992026 111992026 single base substitution C A upstream_gene_variant CLLE-ES 1 111984449 111984449 single base substitution G A downstream_gene_variant CLLE-ES 1 111984449 111984449 single base substitution G A intron_variant COAD-US 1 111983960 111983960 single base substitution C T downstream_gene_variant COAD-US 1 111983960 111983960 single base substitution C T exon_variant COAD-US 1 111983960 111983960 single base substitution C T synonymous_variant P243P 729G>A COAD-US 1 111983960 111983960 single base substitution C T synonymous_variant P255P 765G>A COAD-US 1 111983960 111983960 single base substitution C T synonymous_variant P307P 921G>A COAD-US 1 111996944 111996944 single base substitution C A upstream_gene_variant COAD-US 1 111996969 111996969 insertion of <=200bp - GT upstream_gene_variant COCA-CN 1 111990124 111990124 single base substitution C T exon_variant COCA-CN 1 111990124 111990124 single base substitution C T intron_variant COCA-CN 1 111990124 111990124 single base substitution C T missense_variant D126N 376G>A COCA-CN 1 111990124 111990124 single base substitution C T missense_variant D62N 184G>A ESAD-UK 1 111978124 111978124 single base substitution G A downstream_gene_variant ESAD-UK 1 111978590 111978590 single base substitution G A downstream_gene_variant ESAD-UK 1 111979822 111979822 single base substitution A G downstream_gene_variant ESAD-UK 1 111984851 111984851 single base substitution C G downstream_gene_variant ESAD-UK 1 111984851 111984851 single base substitution C G intron_variant ESAD-UK 1 111986723 111986723 single base substitution C A exon_variant ESAD-UK 1 111986723 111986723 single base substitution C A missense_variant V109F 325G>T ESAD-UK 1 111986723 111986723 single base substitution C A missense_variant V173F 517G>T ESAD-UK 1 111991767 111991767 deletion of <=200bp G - frameshift_variant L9 ESAD-UK 1 111991767 111991767 deletion of <=200bp G - upstream_gene_variant ESAD-UK 1 111992019 111992019 single base substitution T A upstream_gene_variant ESAD-UK 1 111993291 111993291 single base substitution G A upstream_gene_variant ESAD-UK 1 111994565 111994565 single base substitution A T upstream_gene_variant ESCA-CN 1 111990121 111990121 single base substitution T A exon_variant ESCA-CN 1 111990121 111990121 single base substitution T A intron_variant ESCA-CN 1 111990121 111990121 single base substitution T A missense_variant I127F 379A>T ESCA-CN 1 111990121 111990121 single base substitution T A missense_variant I63F 187A>T KIRC-US 1 111989749 111989749 single base substitution A C exon_variant KIRC-US 1 111989749 111989749 single base substitution A C intron_variant KIRC-US 1 111989749 111989749 single base substitution A C missense_variant L154R 461T>G KIRC-US 1 111989749 111989749 single base substitution A C missense_variant L90R 269T>G KIRC-US 1 111990200 111990200 single base substitution T A intron_variant KIRC-US 1 111990200 111990200 single base substitution T A splice_acceptor_variant KIRC-US 1 111990200 111990200 single base substitution T A upstream_gene_variant LAML-CN 1 111986543 111986543 single base substitution C T missense_variant D125N 373G>A LAML-CN 1 111986543 111986543 single base substitution C T missense_variant D189N 565G>A LAML-CN 1 111986543 111986543 single base substitution C T splice_region_variant LAML-KR 1 111992516 111992516 single base substitution C T upstream_gene_variant LICA-CN 1 111991717 111991717 single base substitution G T synonymous_variant A25A 75C>A LICA-CN 1 111991717 111991717 single base substitution G T upstream_gene_variant LICA-FR 1 111996373 111996373 single base substitution A G upstream_gene_variant LINC-JP 1 111979749 111979749 single base substitution A T downstream_gene_variant LINC-JP 1 111986946 111986946 insertion of <=200bp - A intron_variant LINC-JP 1 111989677 111989677 single base substitution C T intron_variant LINC-JP 1 111991075 111991075 single base substitution G A intron_variant LINC-JP 1 111991075 111991075 single base substitution G A upstream_gene_variant LIRI-JP 1 111978887 111978887 single base substitution T C downstream_gene_variant LIRI-JP 1 111980766 111980766 single base substitution T C downstream_gene_variant LIRI-JP 1 111981040 111981040 single base substitution C T downstream_gene_variant LIRI-JP 1 111982669 111982669 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 111982669 111982669 single base substitution A C downstream_gene_variant LIRI-JP 1 111984013 111984013 single base substitution T G downstream_gene_variant LIRI-JP 1 111984013 111984013 single base substitution T G splice_acceptor_variant LIRI-JP 1 111985657 111985657 single base substitution T C downstream_gene_variant LIRI-JP 1 111985657 111985657 single base substitution T C intron_variant LIRI-JP 1 111986075 111986077 deletion of <=200bp CAA - intron_variant LIRI-JP 1 111991215 111991215 single base substitution G T intron_variant LIRI-JP 1 111991215 111991215 single base substitution G T upstream_gene_variant LIRI-JP 1 111991898 111991898 single base substitution G T 5_prime_UTR_variant LIRI-JP 1 111991898 111991898 single base substitution G T upstream_gene_variant LIRI-JP 1 111992726 111992726 single base substitution A C upstream_gene_variant LIRI-JP 1 111994148 111994148 single base substitution C T upstream_gene_variant LIRI-JP 1 111994313 111994313 single base substitution A G upstream_gene_variant LUSC-KR 1 111983178 111983178 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 111983178 111983178 single base substitution C T downstream_gene_variant LUSC-KR 1 111985211 111985211 single base substitution A C downstream_gene_variant LUSC-KR 1 111985211 111985211 single base substitution A C intron_variant LUSC-KR 1 111990265 111990265 single base substitution T C intron_variant LUSC-KR 1 111990265 111990265 single base substitution T C upstream_gene_variant LUSC-KR 1 111990440 111990440 single base substitution G T intron_variant LUSC-KR 1 111990440 111990440 single base substitution G T upstream_gene_variant LUSC-KR 1 111993353 111993353 single base substitution G C upstream_gene_variant LUSC-KR 1 111996388 111996388 single base substitution C G upstream_gene_variant MALY-DE 1 111981083 111981083 single base substitution C T downstream_gene_variant MALY-DE 1 111982220 111982220 single base substitution C T downstream_gene_variant MALY-DE 1 111986881 111986881 single base substitution G A intron_variant MELA-AU 1 111977667 111977668 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 111977902 111977902 single base substitution G A downstream_gene_variant MELA-AU 1 111977995 111977995 single base substitution G A downstream_gene_variant MELA-AU 1 111977999 111978000 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 111978105 111978105 single base substitution C A downstream_gene_variant MELA-AU 1 111978258 111978258 single base substitution A G downstream_gene_variant MELA-AU 1 111978619 111978619 single base substitution G A downstream_gene_variant MELA-AU 1 111978837 111978837 single base substitution C T downstream_gene_variant MELA-AU 1 111979595 111979595 single base substitution C T downstream_gene_variant MELA-AU 1 111980608 111980608 single base substitution G A downstream_gene_variant MELA-AU 1 111981952 111981952 single base substitution G C downstream_gene_variant MELA-AU 1 111982070 111982070 single base substitution G A downstream_gene_variant MELA-AU 1 111982501 111982501 single base substitution G A downstream_gene_variant MELA-AU 1 111983041 111983042 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 111983041 111983042 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 111983338 111983338 single base substitution G A 3_prime_UTR_variant MELA-AU 1 111983338 111983338 single base substitution G A downstream_gene_variant MELA-AU 1 111984579 111984579 single base substitution G A downstream_gene_variant MELA-AU 1 111984579 111984579 single base substitution G A intron_variant MELA-AU 1 111984725 111984725 single base substitution G A downstream_gene_variant MELA-AU 1 111984725 111984725 single base substitution G A intron_variant MELA-AU 1 111984725 111984725 single base substitution G A missense_variant P212L 635C>T MELA-AU 1 111984735 111984735 single base substitution G A downstream_gene_variant MELA-AU 1 111984735 111984735 single base substitution G A intron_variant MELA-AU 1 111984735 111984735 single base substitution G A missense_variant P209S 625C>T MELA-AU 1 111985180 111985180 single base substitution G A downstream_gene_variant MELA-AU 1 111985180 111985180 single base substitution G A intron_variant MELA-AU 1 111985394 111985394 single base substitution G A downstream_gene_variant MELA-AU 1 111985394 111985394 single base substitution G A intron_variant MELA-AU 1 111986024 111986024 single base substitution G A intron_variant MELA-AU 1 111986024 111986024 single base substitution G A splice_region_variant MELA-AU 1 111986025 111986025 single base substitution G A intron_variant MELA-AU 1 111986237 111986237 single base substitution G A intron_variant MELA-AU 1 111986550 111986550 single base substitution G A splice_region_variant MELA-AU 1 111986803 111986803 single base substitution G T intron_variant MELA-AU 1 111988106 111988106 single base substitution G A intron_variant MELA-AU 1 111988174 111988174 single base substitution G A intron_variant MELA-AU 1 111988413 111988413 single base substitution G A intron_variant MELA-AU 1 111988662 111988662 single base substitution G A intron_variant MELA-AU 1 111988745 111988745 single base substitution G A intron_variant MELA-AU 1 111988998 111988998 single base substitution G A intron_variant MELA-AU 1 111989084 111989084 single base substitution G C intron_variant MELA-AU 1 111989350 111989350 single base substitution G A intron_variant MELA-AU 1 111989570 111989570 single base substitution G A intron_variant MELA-AU 1 111989686 111989686 single base substitution A G intron_variant MELA-AU 1 111990019 111990019 single base substitution G T intron_variant MELA-AU 1 111990218 111990218 single base substitution G A intron_variant MELA-AU 1 111990218 111990218 single base substitution G A upstream_gene_variant MELA-AU 1 111991029 111991029 single base substitution G C intron_variant MELA-AU 1 111991029 111991029 single base substitution G C upstream_gene_variant MELA-AU 1 111991300 111991300 single base substitution G A exon_variant MELA-AU 1 111991300 111991300 single base substitution G A missense_variant A17V 50C>T MELA-AU 1 111991300 111991300 single base substitution G A missense_variant A81V 242C>T MELA-AU 1 111991300 111991300 single base substitution G A upstream_gene_variant MELA-AU 1 111991783 111991783 single base substitution C T synonymous_variant K3K 9G>A MELA-AU 1 111991783 111991783 single base substitution C T upstream_gene_variant MELA-AU 1 111991951 111991951 single base substitution C T 5_prime_UTR_variant MELA-AU 1 111991951 111991951 single base substitution C T upstream_gene_variant MELA-AU 1 111991952 111991952 single base substitution T C 5_prime_UTR_variant MELA-AU 1 111991952 111991952 single base substitution T C upstream_gene_variant MELA-AU 1 111992016 111992016 single base substitution T G upstream_gene_variant MELA-AU 1 111992026 111992026 single base substitution C T upstream_gene_variant MELA-AU 1 111992028 111992028 single base substitution C T upstream_gene_variant MELA-AU 1 111992596 111992596 single base substitution C T upstream_gene_variant MELA-AU 1 111993754 111993754 single base substitution C T upstream_gene_variant MELA-AU 1 111993896 111993896 single base substitution C T upstream_gene_variant MELA-AU 1 111994344 111994344 single base substitution G A upstream_gene_variant MELA-AU 1 111994589 111994589 single base substitution A G upstream_gene_variant MELA-AU 1 111994685 111994685 single base substitution T C upstream_gene_variant MELA-AU 1 111995186 111995186 single base substitution C T upstream_gene_variant MELA-AU 1 111996322 111996322 single base substitution T A upstream_gene_variant MELA-AU 1 111996858 111996858 single base substitution C T upstream_gene_variant MELA-AU 1 111996897 111996898 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 111996918 111996918 single base substitution C T upstream_gene_variant ORCA-IN 1 111978938 111978938 single base substitution T C downstream_gene_variant ORCA-IN 1 111978981 111978981 single base substitution A C downstream_gene_variant OV-AU 1 111977884 111977884 single base substitution G T downstream_gene_variant OV-AU 1 111978334 111978334 single base substitution A T downstream_gene_variant OV-AU 1 111994905 111994905 single base substitution A G upstream_gene_variant OV-AU 1 111995265 111995265 single base substitution G C upstream_gene_variant OV-AU 1 111996296 111996296 single base substitution A G upstream_gene_variant PACA-AU 1 111977890 111977890 single base substitution C T downstream_gene_variant PACA-AU 1 111985621 111985621 single base substitution G A downstream_gene_variant PACA-AU 1 111985621 111985621 single base substitution G A intron_variant PACA-AU 1 111988406 111988406 single base substitution T C intron_variant PACA-AU 1 111990808 111990808 single base substitution A T intron_variant PACA-AU 1 111990808 111990808 single base substitution A T upstream_gene_variant PACA-AU 1 111996684 111996684 single base substitution C A upstream_gene_variant PACA-CA 1 111977979 111977979 single base substitution C A downstream_gene_variant PACA-CA 1 111978123 111978123 single base substitution C T downstream_gene_variant PACA-CA 1 111979783 111979783 single base substitution G A downstream_gene_variant PACA-CA 1 111984159 111984159 single base substitution T A downstream_gene_variant PACA-CA 1 111984159 111984159 single base substitution T A exon_variant PACA-CA 1 111984159 111984159 single base substitution T A intron_variant PACA-CA 1 111986776 111986776 single base substitution T C intron_variant PACA-CA 1 111989545 111989545 deletion of <=200bp G - intron_variant PACA-CA 1 111989570 111989570 single base substitution G C intron_variant PACA-CA 1 111990181 111990181 single base substitution C T exon_variant PACA-CA 1 111990181 111990181 single base substitution C T intron_variant PACA-CA 1 111990181 111990181 single base substitution C T missense_variant E107K 319G>A PACA-CA 1 111990181 111990181 single base substitution C T missense_variant E43K 127G>A PACA-CA 1 111990181 111990181 single base substitution C T upstream_gene_variant PACA-CA 1 111990339 111990339 single base substitution G C intron_variant PACA-CA 1 111990339 111990339 single base substitution G C upstream_gene_variant PACA-CA 1 111990480 111990480 single base substitution G A intron_variant PACA-CA 1 111990480 111990480 single base substitution G A upstream_gene_variant PACA-CA 1 111990482 111990482 single base substitution G A intron_variant PACA-CA 1 111990482 111990482 single base substitution G A upstream_gene_variant PBCA-DE 1 111977566 111977566 single base substitution A G downstream_gene_variant PBCA-DE 1 111981072 111981072 deletion of <=200bp A - downstream_gene_variant PBCA-DE 1 111989727 111989727 single base substitution A C exon_variant PBCA-DE 1 111989727 111989727 single base substitution A C intron_variant PBCA-DE 1 111989727 111989727 single base substitution A C missense_variant S161R 483T>G PBCA-DE 1 111989727 111989727 single base substitution A C missense_variant S97R 291T>G PRAD-UK 1 111982110 111982110 single base substitution T C downstream_gene_variant PRAD-UK 1 111982678 111982678 single base substitution A G 3_prime_UTR_variant PRAD-UK 1 111982678 111982678 single base substitution A G downstream_gene_variant PRAD-UK 1 111988406 111988406 single base substitution T C intron_variant PRAD-UK 1 111994197 111994197 single base substitution T A upstream_gene_variant PRAD-UK 1 111994578 111994578 single base substitution A T upstream_gene_variant PRAD-US 1 111983947 111983947 single base substitution G C downstream_gene_variant PRAD-US 1 111983947 111983947 single base substitution G C exon_variant PRAD-US 1 111983947 111983947 single base substitution G C missense_variant L248V 742C>G PRAD-US 1 111983947 111983947 single base substitution G C missense_variant L260V 778C>G PRAD-US 1 111983947 111983947 single base substitution G C missense_variant L312V 934C>G RECA-EU 1 111985158 111985158 single base substitution C T downstream_gene_variant RECA-EU 1 111985158 111985158 single base substitution C T intron_variant RECA-EU 1 111987998 111987998 single base substitution A C intron_variant RECA-EU 1 111995978 111995978 single base substitution T A upstream_gene_variant RECA-EU 1 111996594 111996594 single base substitution G A upstream_gene_variant SKCA-BR 1 111978227 111978227 single base substitution G A downstream_gene_variant SKCA-BR 1 111978273 111978273 single base substitution G A downstream_gene_variant SKCA-BR 1 111983017 111983017 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 111983017 111983017 single base substitution G A downstream_gene_variant SKCA-BR 1 111983582 111983582 single base substitution A T 3_prime_UTR_variant SKCA-BR 1 111983582 111983582 single base substitution A T downstream_gene_variant SKCA-BR 1 111983593 111983593 single base substitution T C 3_prime_UTR_variant SKCA-BR 1 111983593 111983593 single base substitution T C downstream_gene_variant SKCA-BR 1 111987849 111987849 single base substitution G T intron_variant SKCA-BR 1 111991749 111991749 single base substitution G C missense_variant R15G 43C>G SKCA-BR 1 111991749 111991749 single base substitution G C upstream_gene_variant SKCA-BR 1 111993300 111993300 single base substitution C T upstream_gene_variant SKCA-BR 1 111993399 111993399 single base substitution C T upstream_gene_variant SKCA-BR 1 111993863 111993863 single base substitution C T upstream_gene_variant SKCA-BR 1 111996918 111996918 single base substitution C T upstream_gene_variant SKCM-US 1 111983920 111983920 single base substitution G A downstream_gene_variant SKCM-US 1 111983920 111983920 single base substitution G A exon_variant SKCM-US 1 111983920 111983920 single base substitution G A stop_gained Q257* 769C>T SKCM-US 1 111983920 111983920 single base substitution G A stop_gained Q269* 805C>T SKCM-US 1 111983920 111983920 single base substitution G A stop_gained Q321* 961C>T SKCM-US 1 111991257 111991257 single base substitution T A exon_variant SKCM-US 1 111991257 111991257 single base substitution T A synonymous_variant L31L 93A>T SKCM-US 1 111991257 111991257 single base substitution T A synonymous_variant L95L 285A>T SKCM-US 1 111991257 111991257 single base substitution T A upstream_gene_variant SKCM-US 1 111991770 111991770 single base substitution G A missense_variant P8S 22C>T SKCM-US 1 111991770 111991770 single base substitution G A upstream_gene_variant SKCM-US 1 111992045 111992045 single base substitution G A upstream_gene_variant SKCM-US 1 111996858 111996858 single base substitution C T upstream_gene_variant SKCM-US 1 111996918 111996918 single base substitution C T upstream_gene_variant UCEC-US 1 111983882 111983882 single base substitution T C downstream_gene_variant UCEC-US 1 111983882 111983882 single base substitution T C synonymous_variant P269P 807A>G UCEC-US 1 111983882 111983882 single base substitution T C synonymous_variant P281P 843A>G UCEC-US 1 111983882 111983882 single base substitution T C synonymous_variant P333P 999A>G UCEC-US 1 111983900 111983900 single base substitution C T downstream_gene_variant UCEC-US 1 111983900 111983900 single base substitution C T synonymous_variant V263V 789G>A UCEC-US 1 111983900 111983900 single base substitution C T synonymous_variant V275V 825G>A UCEC-US 1 111983900 111983900 single base substitution C T synonymous_variant V327V 981G>A UCEC-US 1 111984542 111984542 single base substitution G T downstream_gene_variant UCEC-US 1 111984542 111984542 single base substitution G T intron_variant UCEC-US 1 111985955 111985955 single base substitution G T downstream_gene_variant UCEC-US 1 111985955 111985955 single base substitution G T exon_variant UCEC-US 1 111985955 111985955 single base substitution G T synonymous_variant V163V 489C>A UCEC-US 1 111985955 111985955 single base substitution G T synonymous_variant V227V 681C>A UCEC-US 1 111986535 111986535 single base substitution T G exon_variant UCEC-US 1 111986535 111986535 single base substitution T G missense_variant R127S 381A>C UCEC-US 1 111986535 111986535 single base substitution T G missense_variant R191S 573A>C UCEC-US 1 111990091 111990091 single base substitution C T exon_variant UCEC-US 1 111990091 111990091 single base substitution C T intron_variant UCEC-US 1 111990091 111990091 single base substitution C T missense_variant G137S 409G>A UCEC-US 1 111990091 111990091 single base substitution C T missense_variant G73S 217G>A UCEC-US 1 111991285 111991285 single base substitution A G exon_variant UCEC-US 1 111991285 111991285 single base substitution A G missense_variant L22P 65T>C UCEC-US 1 111991285 111991285 single base substitution A G missense_variant L86P 257T>C UCEC-US 1 111991285 111991285 single base substitution A G upstream_gene_variant UCEC-US 1 111996905 111996905 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC-190T COSM3934008 c.379A>T p.I127F Substitution - Missense 1:111447499-111447499 - 500 COSM5611819 c.908C>T p.A303V Substitution - Missense 1:111441351-111441351 - PDA_028 COSM4999389 c.796C>A p.H266N Substitution - Missense 1:111442657-111442657 - TCGA-BT-A2LB-01 COSM3788426 c.450G>A p.K150K Substitution - coding silent 1:111447138-111447138 - ML_79_T_01 COSM5038395 c.43C>G p.R15G Substitution - Missense 1:111449127-111449127 - 411 COSM4430902 c.711C>A p.V237V Substitution - coding silent 1:111442742-111442742 - PCSI_0087_Pa_P COSM216554 c.319G>A p.E107K Substitution - Missense 1:111447559-111447559 - Pat_46_B COSM5843068 c.293C>T p.S98F Substitution - Missense 1:111448627-111448627 - TCGA-A5-A0VQ-01 COSM893838 c.257T>C p.L86P Substitution - Missense 1:111448663-111448663 - RK284_C01 COSM4943326 c.870-2A>C p.? Unknown 1:111441391-111441391 - 587342 COSM1232658 c.245G>A p.G82E Substitution - Missense 1:111448675-111448675 - CSCC-37-T COSM4542459 c.318G>A p.W106* Substitution - Nonsense 1:111447560-111447560 - ESCC_151 COSM5645096 c.57T>C p.L19L Substitution - coding silent 1:111449113-111449113 - TCGA-AP-A0LM-01 COSM893835 c.681C>A p.V227V Substitution - coding silent 1:111443333-111443333 - TCGA-DK-A1A3-01 COSM414180 c.976G>A p.V326I Substitution - Missense 1:111441283-111441283 - PM-5 COSM5620151 c.521C>T p.A174V Substitution - Missense 1:111444097-111444097 - TCGA-B2-4099-01 COSM462606 c.651G>T p.S217S Substitution - coding silent 1:111443363-111443363 - TCGA-BS-A0UJ-01 COSM893833 c.999A>G p.P333P Substitution - coding silent 1:111441260-111441260 - TCGA-AX-A05Y-01 COSM893837 c.409G>A p.G137S Substitution - Missense 1:111447469-111447469 - TCGA-AX-A060-01 COSM893834 c.981G>A p.V327V Substitution - coding silent 1:111441278-111441278 - CML047T COSM5803009 c.565G>A p.D189N Substitution - Missense 1:111443921-111443921 - TCGA-EE-A2MR-06 COSM3471237 c.22C>T p.P8S Substitution - Missense 1:111449148-111449148 - TC71 COSM4576116 c.825T>C p.S275S Substitution - coding silent 1:111442069-111442069 - C608 COSM4442599 c.707C>A p.T236K Substitution - Missense 1:111442746-111442746 - TCGA-AA-3663-01 COSM1332705 c.921G>A p.P307P Substitution - coding silent 1:111441338-111441338 - TCGA-D1-A17Q-01 COSM893836 c.573A>C p.R191S Substitution - Missense 1:111443913-111443913 - TCGA-AG-A026-01 COSM290554 c.25delC p.L9fs*1 Deletion - Frameshift 1:111449145-111449145 - PCSI_0087_Pa_X COSM216554 c.319G>A p.E107K Substitution - Missense 1:111447559-111447559 - T30 COSM5341423 c.491G>T p.R164L Substitution - Missense 1:111447097-111447097 - Pat_14_B COSM5843066 c.692-1G>A p.? Unknown 1:111442762-111442762 - HRA19 COSM4637603 c.964G>C p.V322L Substitution - Missense 1:111441295-111441295 - TCGA-CJ-4636-01 COSM462607 c.461T>G p.L154R Substitution - Missense 1:111447127-111447127 - 1604875 COSM140952 c.997C>T p.P333S Substitution - Missense 1:111441262-111441262 - HCC034T COSM5817959 c.75C>A p.A25A Substitution - coding silent 1:111449095-111449095 - TCGA-CH-5768-01 COSM1127481 c.934C>G p.L312V Substitution - Missense 1:111441325-111441325 - 2492730 COSM5729024 c.563A>T p.E188V Substitution - Missense 1:111444055-111444055 - TCGA-EB-A5UM-01 COSM3862215 c.285A>T p.L95L Substitution - coding silent 1:111448635-111448635 - TCGA-FW-A3R5-06 COSM3862214 c.961C>T p.Q321* Substitution - Nonsense 1:111441298-111441298 - sysucc-274T COSM5475471 c.376G>A p.D126N Substitution - Missense 1:111447502-111447502 - Pat_46_A COSM5843068 c.293C>T p.S98F Substitution - Missense 1:111448627-111448627 - ME018T COSM225129 c.919_920CC>TT p.P307>? Complex 1:111441339-111441340 - TCGA-F5-6810-01 COSM5080094 c.801-10C>T p.? Unknown 1:111442103-111442103 - BD124T COSM290554 c.25delC p.L9fs*1 Deletion - Frameshift 1:111449145-111449145 - TCGA-AK-3430-01 COSM462608 c.302-2A>T p.? Unknown 1:111447578-111447578 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.204733;Hs.204736;Hs.204758;Hs.204764;Hs.204773 1p13.2 611734 2433450|CGAP|BC001679|A/C|non-coding||1882|Candidate; 2433450|CGAP|BC006477|A/C|non-coding||1882|Candidate; 2433450|CGAP|BC009411|A/C|non-coding||1824|Candidate; 2433450|CGAP|BC011778|A/C|non-coding||1901|Candidate; 2433450|CGAP|BC016946|A/C|non-coding||1861|Candidate; 2433452|CGAP|BC001679|A/G|non-coding||1793|Candidate; 2433452|CGAP|BC006477|A/G|non-coding||1793|Candidate; 2433452|CGAP|BC009411|A/G|non-coding||1735|Candidate; 2433452|CGAP|BC011778|A/G|non-coding||1812|Candidate; 2433452|CGAP|BC016946|A/G|non-coding||1772|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L154R c.461T>G 1 111989749 RCCC A G Missense p.L86P c.257T>C 1 111991285 UCEC C T Missense p.E107K c.319G>A 1 111990181 PAAD C T Missense p.G137S c.409G>A 1 111990091 UCEC C T Missense p.V248I c.742G>A 1 111985333 HNSC C T Missense p.V326I c.976G>A 1 111983905 BLCA C T Synonymous p.K150K c.450G>A 1 111989760 BLCA C T Synonymous p.V327V c.981G>A 1 111983900 UCEC G A Missense p.P64L c.191C>T 1 111991351 HNSC G A Nonsense p.Q156* c.466C>T 1 111989744 HNSC G A Synonymous p.V116V c.348C>T 1 111990152 HNSC G C Missense p.L312V c.934C>G 1 111983947 PRAD G - Frameshift p.L9*fs*1 c.25delC 1 111991767 COREAD - G Frameshift p.L9Pfs*54 c.25dupC 1 111991767 LUAD GG AA Missense p.P307L c.919_920delinsTT 1 111983961 CM T A SpliceAcceptorSNV . c.302-2A>T 1 111990200 RCCC