Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 13 111368316 111368316 + Silent SNP C C T TCGA-OR-A5J8-01A-11D-A29I-10 TCGA-OR-A5J8-10A-01D-A29L-10 g.chr13:111368316C>T c.526C>T c.(526-528)Ctg>Ttg p.L176L ACC 13 111368316 111368316 + Silent SNP C C T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr13:111368316C>T c.526C>T c.(526-528)Ctg>Ttg p.L176L ACC 13 111368316 111368316 + Silent SNP C C T TCGA-OR-A5JT-01A-11D-A29I-10 TCGA-OR-A5JT-10A-01D-A29L-10 g.chr13:111368316C>T c.526C>T c.(526-528)Ctg>Ttg p.L176L ACC 13 111368316 111368316 + Silent SNP C C T TCGA-OR-A5K2-01A-11D-A29I-10 TCGA-OR-A5K2-10B-01D-A29L-10 g.chr13:111368316C>T c.526C>T c.(526-528)Ctg>Ttg p.L176L ACC 13 111368316 111368316 + Silent SNP C C T TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr13:111368316C>T c.526C>T c.(526-528)Ctg>Ttg p.L176L ACC 13 111368316 111368316 + Silent SNP C C T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr13:111368316C>T c.526C>T c.(526-528)Ctg>Ttg p.L176L ACC 13 111368316 111368316 + Silent SNP C C T TCGA-OR-A5KX-01A-11D-A29I-10 TCGA-OR-A5KX-10A-01D-A29L-10 g.chr13:111368316C>T c.526C>T c.(526-528)Ctg>Ttg p.L176L ACC 13 111368316 111368316 + Silent SNP C C T TCGA-OR-A5KZ-01A-11D-A29I-10 TCGA-OR-A5KZ-10A-01D-A29L-10 g.chr13:111368316C>T c.526C>T c.(526-528)Ctg>Ttg p.L176L ACC 13 111368316 111368316 + Silent SNP C C T TCGA-OR-A5LR-01A-11D-A29I-10 TCGA-OR-A5LR-10A-01D-A29L-10 g.chr13:111368316C>T c.526C>T c.(526-528)Ctg>Ttg p.L176L ACC 13 111368316 111368316 + Silent SNP C C T TCGA-P6-A5OF-01A-11D-A29I-10 TCGA-P6-A5OF-10A-01D-A29L-10 g.chr13:111368316C>T c.526C>T c.(526-528)Ctg>Ttg p.L176L ACC 13 111371922 111371922 + Silent SNP C C T TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr13:111371922C>T c.912C>T c.(910-912)aaC>aaT p.N304N BLCA 13 111367942 111367942 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr13:111367942G>A c.152G>A c.(151-153)cGa>cAa p.R51Q BLCA 13 111368180 111368180 + Silent SNP C C T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr13:111368180C>T c.390C>T c.(388-390)ctC>ctT p.L130L BLCA 13 111368195 111368195 + Silent SNP C C T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr13:111368195C>T c.405C>T c.(403-405)ttC>ttT p.F135F BLCA 13 111371994 111371994 + Frame_Shift_Del DEL G G - TCGA-FJ-A3Z9-01A-11D-A26M-08 TCGA-FJ-A3Z9-10A-01D-A26K-08 g.chr13:111371994delG c.984delG c.(982-984)aagfs p.K331fs BLCA 13 111372030 111372030 + Frame_Shift_Del DEL G G - TCGA-YC-A8S6-01A-31D-A38G-08 TCGA-YC-A8S6-10A-01D-A38J-08 g.chr13:111372030delG c.1020delG c.(1018-1020)gagfs p.E340fs BRCA 13 111366554 111366554 + 5'Flank SNP C C G TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 g.chr13:111366554C>G BRCA 13 111367939 111367939 + Missense_Mutation SNP G G T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr13:111367939G>T c.149G>T c.(148-150)gGa>gTa p.G50V BRCA 13 111368180 111368180 + Silent SNP C C G TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 g.chr13:111368180C>G c.390C>G c.(388-390)ctC>ctG p.L130L BRCA 13 111371686 111371686 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr13:111371686G>C c.676G>C c.(676-678)Gag>Cag p.E226Q BRCA 13 111371698 111371698 + Missense_Mutation SNP G G A TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr13:111371698G>A c.688G>A c.(688-690)Gag>Aag p.E230K BRCA 13 111371874 111371874 + Silent SNP C C T TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 g.chr13:111371874C>T c.864C>T c.(862-864)ccC>ccT p.P288P BRCA 13 111371953 111371953 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 g.chr13:111371953G>T c.943G>T c.(943-945)Gcc>Tcc p.A315S BRCA 13 111372216 111372216 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr13:111372216G>A c.1206G>A c.(1204-1206)gaG>gaA p.E402E CESC 13 111367831 111367831 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 g.chr13:111367831G>A c.41G>A c.(40-42)cGa>cAa p.R14Q CESC 13 111371896 111371896 + Nonsense_Mutation SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 g.chr13:111371896C>T c.886C>T c.(886-888)Cag>Tag p.Q296* COAD 13 111367955 111367955 + Missense_Mutation SNP C C G TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr13:111367955C>G c.165C>G c.(163-165)aaC>aaG p.N55K COAD 13 111371923 111371923 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr13:111371923G>A c.913G>A c.(913-915)Gcg>Acg p.A305T COAD 13 111371944 111371944 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:111371944G>A c.934G>A c.(934-936)Gac>Aac p.D312N COAD 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-AA-A03F-01A-11W-A096-10 TCGA-AA-A03F-11A-12W-A096-10 g.chr13:111372025C>T c.1015C>T c.(1015-1017)Cga>Tga p.R339* COAD 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr13:111372025C>T c.1015C>T c.(1015-1017)Cga>Tga p.R339* COAD 13 111372096 111372096 + Silent SNP C C A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr13:111372096C>A c.1086C>A c.(1084-1086)tcC>tcA p.S362S COAD 13 111372118 111372118 + Missense_Mutation SNP G G T TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr13:111372118G>T c.1108G>T c.(1108-1110)Gac>Tac p.D370Y COAD 13 111372139 111372139 + Missense_Mutation SNP G G A TCGA-AA-A01F-01A-01W-A005-10 TCGA-AA-A01F-10A-01W-A005-10 g.chr13:111372139G>A c.1129G>A c.(1129-1131)Gag>Aag p.E377K COAD 13 111372142 111372142 + Missense_Mutation SNP T T C TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr13:111372142T>C c.1132T>C c.(1132-1134)Tgg>Cgg p.W378R COAD 13 111372202 111372202 + Nonsense_Mutation SNP A A T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr13:111372202A>T c.1192A>T c.(1192-1194)Aag>Tag p.K398* COAD 13 111372209 111372209 + Frame_Shift_Del DEL G G - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr13:111372209delG c.1199delG c.(1198-1200)cggfs p.R400fs COADREAD 13 111367955 111367955 + Missense_Mutation SNP C C G TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr13:111367955C>G c.165C>G c.(163-165)aaC>aaG p.N55K COADREAD 13 111371923 111371923 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr13:111371923G>A c.913G>A c.(913-915)Gcg>Acg p.A305T COADREAD 13 111371944 111371944 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:111371944G>A c.934G>A c.(934-936)Gac>Aac p.D312N COADREAD 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-AA-A03F-01A-11W-A096-10 TCGA-AA-A03F-11A-12W-A096-10 g.chr13:111372025C>T c.1015C>T c.(1015-1017)Cga>Tga p.R339* COADREAD 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-AF-3913-01A-02W-1073-09 TCGA-AF-3913-11A-01W-1073-09 g.chr13:111372025C>T c.1015C>T c.(1015-1017)Cga>Tga p.R339* COADREAD 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr13:111372025C>T c.1015C>T c.(1015-1017)Cga>Tga p.R339* COADREAD 13 111372096 111372096 + Silent SNP C C A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr13:111372096C>A c.1086C>A c.(1084-1086)tcC>tcA p.S362S COADREAD 13 111372118 111372118 + Missense_Mutation SNP G G T TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr13:111372118G>T c.1108G>T c.(1108-1110)Gac>Tac p.D370Y COADREAD 13 111372139 111372139 + Missense_Mutation SNP G G A TCGA-AA-A01F-01A-01W-A005-10 TCGA-AA-A01F-10A-01W-A005-10 g.chr13:111372139G>A c.1129G>A c.(1129-1131)Gag>Aag p.E377K COADREAD 13 111372142 111372142 + Missense_Mutation SNP T T C TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr13:111372142T>C c.1132T>C c.(1132-1134)Tgg>Cgg p.W378R COADREAD 13 111372142 111372142 + Missense_Mutation SNP T T C TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr13:111372142T>C c.1132T>C c.(1132-1134)Tgg>Cgg p.W378R COADREAD 13 111372202 111372202 + Nonsense_Mutation SNP A A T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr13:111372202A>T c.1192A>T c.(1192-1194)Aag>Tag p.K398* COADREAD 13 111372209 111372209 + Frame_Shift_Del DEL G G - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr13:111372209delG c.1199delG c.(1198-1200)cggfs p.R400fs DLBC 13 111368023 111368023 + Missense_Mutation SNP C C G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr13:111368023C>G c.233C>G c.(232-234)tCc>tGc p.S78C ESCA 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 g.chr13:111372025C>T c.1015C>T c.(1015-1017)Cga>Tga p.R339* ESCA 13 111372209 111372209 + Frame_Shift_Del DEL G G - TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 g.chr13:111372209delG c.1199delG c.(1198-1200)cggfs p.R400fs GBM 13 111371669 111371669 + Missense_Mutation SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr13:111371669C>T c.659C>T c.(658-660)gCg>gTg p.A220V GBMLGG 13 111366570 111366570 + 5'Flank SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:111366570C>T GBMLGG 13 111371669 111371669 + Missense_Mutation SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr13:111371669C>T c.659C>T c.(658-660)gCg>gTg p.A220V GBMLGG 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 g.chr13:111372025C>T c.1015C>T c.(1015-1017)Cga>Tga p.R339* HNSC 13 111371616 111371616 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr13:111371616T>C c.606T>C c.(604-606)agT>agC p.S202S HNSC 13 111371619 111371619 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 g.chr13:111371619C>T c.609C>T c.(607-609)cgC>cgT p.R203R HNSC 13 111372242 111372242 + Missense_Mutation SNP T T G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 g.chr13:111372242T>G c.1232T>G c.(1231-1233)cTg>cGg p.L411R KICH 13 111367954 111367954 + Missense_Mutation SNP A A T TCGA-KO-8415-01A-11D-2310-10 TCGA-KO-8415-11A-01D-2311-10 g.chr13:111367954A>T c.164A>T c.(163-165)aAc>aTc p.N55I KIPAN 13 111367954 111367954 + Missense_Mutation SNP A A T TCGA-KO-8415-01A-11D-2310-10 TCGA-KO-8415-11A-01D-2311-10 g.chr13:111367954A>T c.164A>T c.(163-165)aAc>aTc p.N55I LGG 13 111366570 111366570 + 5'Flank SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:111366570C>T LGG 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 g.chr13:111372025C>T c.1015C>T c.(1015-1017)Cga>Tga p.R339* LIHC 13 111367802 111367802 + Silent SNP G G T TCGA-ZP-A9CY-01A-11D-A382-10 TCGA-ZP-A9CY-10B-01D-A385-10 g.chr13:111367802G>T c.12G>T c.(10-12)gtG>gtT p.V4V LIHC 13 111368119 111368119 + Missense_Mutation SNP G G T TCGA-DD-AAW3-01A-11D-A40P-10 TCGA-DD-AAW3-10A-01D-A40P-10 g.chr13:111368119G>T c.329G>T c.(328-330)cGc>cTc p.R110L LIHC 13 111371870 111371870 + Missense_Mutation SNP A A G TCGA-BD-A2L6-01A-11D-A20W-10 TCGA-BD-A2L6-11A-21D-A20W-10 g.chr13:111371870A>G c.860A>G c.(859-861)aAg>aGg p.K287R LIHC 13 111371917 111371917 + Missense_Mutation SNP G G A TCGA-DD-AACB-01A-11D-A40R-10 TCGA-DD-AACB-10A-01D-A40U-10 g.chr13:111371917G>A c.907G>A c.(907-909)Gag>Aag p.E303K LUAD 13 111367799 111367799 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr13:111367799C>T c.9C>T c.(7-9)ttC>ttT p.F3F LUAD 13 111367917 111367917 + Missense_Mutation SNP G G T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr13:111367917G>T c.127G>T c.(127-129)Ggg>Tgg p.G43W LUAD 13 111367918 111367918 + Missense_Mutation SNP G G T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr13:111367918G>T c.128G>T c.(127-129)gGg>gTg p.G43V LUAD 13 111368110 111368110 + Missense_Mutation SNP G G T TCGA-55-1595-01A-01D-0969-08 TCGA-55-1595-11A-01D-0969-08 g.chr13:111368110G>T c.320G>T c.(319-321)cGa>cTa p.R107L LUAD 13 111368348 111368348 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr13:111368348G>C c.558G>C c.(556-558)ccG>ccC p.P186P LUAD 13 111371668 111371668 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr13:111371668G>T c.658G>T c.(658-660)Gcg>Tcg p.A220S LUAD 13 111371692 111371692 + Missense_Mutation SNP G G A TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr13:111371692G>A c.682G>A c.(682-684)Ggc>Agc p.G228S LUAD 13 111371742 111371742 + Missense_Mutation SNP C C A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr13:111371742C>A c.732C>A c.(730-732)aaC>aaA p.N244K LUAD 13 111372015 111372015 + Silent SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 g.chr13:111372015C>T c.1005C>T c.(1003-1005)gcC>gcT p.A335A LUAD 13 111372069 111372069 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr13:111372069C>G c.1059C>G c.(1057-1059)ccC>ccG p.P353P LUSC 13 111368196 111368196 + Missense_Mutation SNP G G T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr13:111368196G>T c.406G>T c.(406-408)Ggg>Tgg p.G136W OV 13 111372144 111372144 + Missense_Mutation SNP G G T TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 g.chr13:111372144G>T c.1134G>T c.(1132-1134)tgG>tgT p.W378C PAAD 13 111366616 111366616 + 5'Flank SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:111366616C>T PAAD 13 111368056 111368056 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:111368056C>A c.266C>A c.(265-267)cCt>cAt p.P89H PCPG 13 111366587 111366587 + 5'Flank SNP C C G TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 g.chr13:111366587C>G PRAD 13 111368196 111368196 + Missense_Mutation SNP G G T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 g.chr13:111368196G>T c.406G>T c.(406-408)Ggg>Tgg p.G136W PRAD 13 111371749 111371749 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr13:111371749C>T c.739C>T c.(739-741)Cgg>Tgg p.R247W READ 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-AF-3913-01A-02W-1073-09 TCGA-AF-3913-11A-01W-1073-09 g.chr13:111372025C>T c.1015C>T c.(1015-1017)Cga>Tga p.R339* READ 13 111372142 111372142 + Missense_Mutation SNP T T C TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr13:111372142T>C c.1132T>C c.(1132-1134)Tgg>Cgg p.W378R SARC 13 111371715 111371715 + Silent SNP G G T TCGA-FX-A76Y-01A-11D-A351-09 TCGA-FX-A76Y-10A-01D-A351-09 g.chr13:111371715G>T c.705G>T c.(703-705)gtG>gtT p.V235V SKCM 13 111367820 111367820 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr13:111367820C>T c.30C>T c.(28-30)tcC>tcT p.S10S SKCM 13 111367821 111367821 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr13:111367821C>T c.31C>T c.(31-33)Cct>Tct p.P11S SKCM 13 111368020 111368020 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr13:111368020C>T c.230C>T c.(229-231)tCt>tTt p.S77F SKCM 13 111368024 111368024 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr13:111368024C>T c.234C>T c.(232-234)tcC>tcT p.S78S SKCM 13 111368079 111368079 + Missense_Mutation SNP C C T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr13:111368079C>T c.289C>T c.(289-291)Ccc>Tcc p.P97S SKCM 13 111371712 111371712 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr13:111371712C>T c.702C>T c.(700-702)atC>atT p.I234I

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 13 111372025 111372025 single base substitution C T downstream_gene_variant BLCA-CN 13 111372025 111372025 single base substitution C T stop_gained R127* 379C>T BLCA-CN 13 111372025 111372025 single base substitution C T stop_gained R152* 454C>T BLCA-CN 13 111372025 111372025 single base substitution C T stop_gained R196* 586C>T BLCA-CN 13 111372025 111372025 single base substitution C T stop_gained R339* 1015C>T BRCA-EU 13 111362661 111362661 single base substitution G A upstream_gene_variant BRCA-EU 13 111362713 111362713 single base substitution G C upstream_gene_variant BRCA-EU 13 111364413 111364413 single base substitution G T upstream_gene_variant BRCA-EU 13 111364448 111364448 single base substitution G T upstream_gene_variant BRCA-EU 13 111365529 111365529 single base substitution G T intron_variant BRCA-EU 13 111365529 111365529 single base substitution G T upstream_gene_variant BRCA-EU 13 111365694 111365694 single base substitution C G 5_prime_UTR_variant BRCA-EU 13 111365694 111365694 single base substitution C G intron_variant BRCA-EU 13 111365694 111365694 single base substitution C G upstream_gene_variant BRCA-EU 13 111366565 111366565 single base substitution C G intron_variant BRCA-EU 13 111366565 111366565 single base substitution C G missense_variant I23M 69C>G BRCA-EU 13 111366565 111366565 single base substitution C G upstream_gene_variant BRCA-EU 13 111367717 111367717 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 13 111367717 111367717 single base substitution C G intron_variant BRCA-EU 13 111367717 111367717 single base substitution C G upstream_gene_variant BRCA-EU 13 111369075 111369075 single base substitution C T intron_variant BRCA-EU 13 111370290 111370290 single base substitution G C intron_variant BRCA-EU 13 111371508 111371508 single base substitution C T intron_variant BRCA-EU 13 111372944 111372944 single base substitution C G 3_prime_UTR_variant BRCA-EU 13 111372944 111372944 single base substitution C G downstream_gene_variant BRCA-EU 13 111375097 111375097 deletion of <=200bp A - downstream_gene_variant BRCA-EU 13 111375896 111375896 single base substitution C T downstream_gene_variant BRCA-EU 13 111377007 111377007 single base substitution T G downstream_gene_variant BRCA-FR 13 111365694 111365694 single base substitution C G 5_prime_UTR_variant BRCA-FR 13 111365694 111365694 single base substitution C G intron_variant BRCA-FR 13 111365694 111365694 single base substitution C G upstream_gene_variant BRCA-FR 13 111365803 111365803 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 13 111365803 111365803 single base substitution C G intron_variant BRCA-FR 13 111365803 111365803 single base substitution C G upstream_gene_variant BRCA-FR 13 111367717 111367717 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 13 111367717 111367717 single base substitution C G intron_variant BRCA-FR 13 111367717 111367717 single base substitution C G upstream_gene_variant BRCA-US 13 111366554 111366554 single base substitution C G intron_variant BRCA-US 13 111366554 111366554 single base substitution C G missense_variant L20V 58C>G BRCA-US 13 111366554 111366554 single base substitution C G upstream_gene_variant BRCA-US 13 111367939 111367939 single base substitution G T intron_variant BRCA-US 13 111367939 111367939 single base substitution G T missense_variant G50V 149G>T BRCA-US 13 111368180 111368180 single base substitution C G intron_variant BRCA-US 13 111368180 111368180 single base substitution C G synonymous_variant L130L 390C>G BRCA-US 13 111371686 111371686 single base substitution G C exon_variant BRCA-US 13 111371686 111371686 single base substitution G C missense_variant E14Q 40G>C BRCA-US 13 111371686 111371686 single base substitution G C missense_variant E226Q 676G>C BRCA-US 13 111371686 111371686 single base substitution G C missense_variant E39Q 115G>C BRCA-US 13 111371686 111371686 single base substitution G C missense_variant E83Q 247G>C BRCA-US 13 111371698 111371698 single base substitution G A exon_variant BRCA-US 13 111371698 111371698 single base substitution G A missense_variant E18K 52G>A BRCA-US 13 111371698 111371698 single base substitution G A missense_variant E230K 688G>A BRCA-US 13 111371698 111371698 single base substitution G A missense_variant E43K 127G>A BRCA-US 13 111371698 111371698 single base substitution G A missense_variant E87K 259G>A BRCA-US 13 111371874 111371874 single base substitution C T downstream_gene_variant BRCA-US 13 111371874 111371874 single base substitution C T synonymous_variant P101P 303C>T BRCA-US 13 111371874 111371874 single base substitution C T synonymous_variant P145P 435C>T BRCA-US 13 111371874 111371874 single base substitution C T synonymous_variant P288P 864C>T BRCA-US 13 111371874 111371874 single base substitution C T synonymous_variant P76P 228C>T BRCA-US 13 111371953 111371953 single base substitution G T downstream_gene_variant BRCA-US 13 111371953 111371953 single base substitution G T missense_variant A103S 307G>T BRCA-US 13 111371953 111371953 single base substitution G T missense_variant A128S 382G>T BRCA-US 13 111371953 111371953 single base substitution G T missense_variant A172S 514G>T BRCA-US 13 111371953 111371953 single base substitution G T missense_variant A315S 943G>T BRCA-US 13 111372216 111372216 single base substitution G A downstream_gene_variant BRCA-US 13 111372216 111372216 single base substitution G A synonymous_variant E190E 570G>A BRCA-US 13 111372216 111372216 single base substitution G A synonymous_variant E215E 645G>A BRCA-US 13 111372216 111372216 single base substitution G A synonymous_variant E259E 777G>A BRCA-US 13 111372216 111372216 single base substitution G A synonymous_variant E402E 1206G>A BTCA-JP 13 111365326 111365326 single base substitution T C splice_donor_variant BTCA-JP 13 111365326 111365326 single base substitution T C upstream_gene_variant BTCA-JP 13 111371618 111371618 single base substitution G A 5_prime_UTR_variant BTCA-JP 13 111371618 111371618 single base substitution G A exon_variant BTCA-JP 13 111371618 111371618 single base substitution G A missense_variant R16H 47G>A BTCA-JP 13 111371618 111371618 single base substitution G A missense_variant R203H 608G>A BTCA-JP 13 111371618 111371618 single base substitution G A missense_variant R60H 179G>A BTCA-JP 13 111371745 111371745 single base substitution C G exon_variant BTCA-JP 13 111371745 111371745 single base substitution C G synonymous_variant R102R 306C>G BTCA-JP 13 111371745 111371745 single base substitution C G synonymous_variant R245R 735C>G BTCA-JP 13 111371745 111371745 single base substitution C G synonymous_variant R33R 99C>G BTCA-JP 13 111371745 111371745 single base substitution C G synonymous_variant R58R 174C>G BTCA-JP 13 111372064 111372064 single base substitution G A downstream_gene_variant BTCA-JP 13 111372064 111372064 single base substitution G A missense_variant E140K 418G>A BTCA-JP 13 111372064 111372064 single base substitution G A missense_variant E165K 493G>A BTCA-JP 13 111372064 111372064 single base substitution G A missense_variant E209K 625G>A BTCA-JP 13 111372064 111372064 single base substitution G A missense_variant E352K 1054G>A CESC-US 13 111367831 111367831 single base substitution G A exon_variant CESC-US 13 111367831 111367831 single base substitution G A intron_variant CESC-US 13 111367831 111367831 single base substitution G A missense_variant R14Q 41G>A CESC-US 13 111371896 111371896 single base substitution C T downstream_gene_variant CESC-US 13 111371896 111371896 single base substitution C T stop_gained Q109* 325C>T CESC-US 13 111371896 111371896 single base substitution C T stop_gained Q153* 457C>T CESC-US 13 111371896 111371896 single base substitution C T stop_gained Q296* 886C>T CESC-US 13 111371896 111371896 single base substitution C T stop_gained Q84* 250C>T CLLE-ES 13 111369541 111369541 single base substitution T A intron_variant CLLE-ES 13 111378395 111378395 single base substitution A G downstream_gene_variant COAD-US 13 111367955 111367955 single base substitution C G intron_variant COAD-US 13 111367955 111367955 single base substitution C G missense_variant N55K 165C>G COAD-US 13 111368074 111368074 single base substitution C A intron_variant COAD-US 13 111368074 111368074 single base substitution C A missense_variant A95E 284C>A COAD-US 13 111368164 111368164 single base substitution T G intron_variant COAD-US 13 111368164 111368164 single base substitution T G missense_variant L125R 374T>G COAD-US 13 111368316 111368316 single base substitution C T intron_variant COAD-US 13 111368316 111368316 single base substitution C T synonymous_variant L176L 526C>T COAD-US 13 111372025 111372025 single base substitution C T downstream_gene_variant COAD-US 13 111372025 111372025 single base substitution C T stop_gained R127* 379C>T COAD-US 13 111372025 111372025 single base substitution C T stop_gained R152* 454C>T COAD-US 13 111372025 111372025 single base substitution C T stop_gained R196* 586C>T COAD-US 13 111372025 111372025 single base substitution C T stop_gained R339* 1015C>T COAD-US 13 111372118 111372118 single base substitution G T downstream_gene_variant COAD-US 13 111372118 111372118 single base substitution G T missense_variant D158Y 472G>T COAD-US 13 111372118 111372118 single base substitution G T missense_variant D183Y 547G>T COAD-US 13 111372118 111372118 single base substitution G T missense_variant D227Y 679G>T COAD-US 13 111372118 111372118 single base substitution G T missense_variant D370Y 1108G>T COAD-US 13 111372202 111372202 single base substitution A T downstream_gene_variant COAD-US 13 111372202 111372202 single base substitution A T stop_gained K186* 556A>T COAD-US 13 111372202 111372202 single base substitution A T stop_gained K211* 631A>T COAD-US 13 111372202 111372202 single base substitution A T stop_gained K255* 763A>T COAD-US 13 111372202 111372202 single base substitution A T stop_gained K398* 1192A>T COCA-CN 13 111371669 111371669 single base substitution C T exon_variant COCA-CN 13 111371669 111371669 single base substitution C T missense_variant A220V 659C>T COCA-CN 13 111371669 111371669 single base substitution C T missense_variant A33V 98C>T COCA-CN 13 111371669 111371669 single base substitution C T missense_variant A77V 230C>T COCA-CN 13 111371669 111371669 single base substitution C T missense_variant A8V 23C>T COCA-CN 13 111371885 111371885 single base substitution G A downstream_gene_variant COCA-CN 13 111371885 111371885 single base substitution G A missense_variant R105H 314G>A COCA-CN 13 111371885 111371885 single base substitution G A missense_variant R149H 446G>A COCA-CN 13 111371885 111371885 single base substitution G A missense_variant R292H 875G>A COCA-CN 13 111371885 111371885 single base substitution G A missense_variant R80H 239G>A COCA-CN 13 111372190 111372190 single base substitution T A downstream_gene_variant COCA-CN 13 111372190 111372190 single base substitution T A missense_variant W182R 544T>A COCA-CN 13 111372190 111372190 single base substitution T A missense_variant W207R 619T>A COCA-CN 13 111372190 111372190 single base substitution T A missense_variant W251R 751T>A COCA-CN 13 111372190 111372190 single base substitution T A missense_variant W394R 1180T>A ESAD-UK 13 111361592 111361592 single base substitution C A upstream_gene_variant ESAD-UK 13 111363841 111363841 single base substitution G A upstream_gene_variant ESAD-UK 13 111363923 111363923 single base substitution C T upstream_gene_variant ESAD-UK 13 111364424 111364424 single base substitution G A upstream_gene_variant ESAD-UK 13 111365483 111365483 single base substitution C T intron_variant ESAD-UK 13 111365483 111365483 single base substitution C T upstream_gene_variant ESAD-UK 13 111367303 111367303 single base substitution C G intron_variant ESAD-UK 13 111367303 111367303 single base substitution C G upstream_gene_variant ESAD-UK 13 111367768 111367768 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 13 111367768 111367768 single base substitution C G intron_variant ESAD-UK 13 111367768 111367768 single base substitution C G upstream_gene_variant ESAD-UK 13 111368180 111368180 single base substitution C T intron_variant ESAD-UK 13 111368180 111368180 single base substitution C T synonymous_variant L130L 390C>T ESAD-UK 13 111370907 111370907 single base substitution A G intron_variant ESAD-UK 13 111371037 111371037 single base substitution T A intron_variant ESAD-UK 13 111372385 111372385 single base substitution A G 3_prime_UTR_variant ESAD-UK 13 111372385 111372385 single base substitution A G downstream_gene_variant ESAD-UK 13 111372971 111372971 single base substitution G T 3_prime_UTR_variant ESAD-UK 13 111372971 111372971 single base substitution G T downstream_gene_variant ESAD-UK 13 111373593 111373593 single base substitution A G downstream_gene_variant ESAD-UK 13 111375302 111375302 single base substitution G C downstream_gene_variant ESAD-UK 13 111378041 111378041 single base substitution G A downstream_gene_variant ESCA-CN 13 111367998 111367998 single base substitution C G intron_variant ESCA-CN 13 111367998 111367998 single base substitution C G missense_variant R70G 208C>G ESCA-CN 13 111371617 111371617 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESCA-CN 13 111371617 111371617 single base substitution C T exon_variant ESCA-CN 13 111371617 111371617 single base substitution C T missense_variant R16C 46C>T ESCA-CN 13 111371617 111371617 single base substitution C T missense_variant R203C 607C>T ESCA-CN 13 111371617 111371617 single base substitution C T missense_variant R60C 178C>T GBM-US 13 111371669 111371669 single base substitution C T exon_variant GBM-US 13 111371669 111371669 single base substitution C T missense_variant A220V 659C>T GBM-US 13 111371669 111371669 single base substitution C T missense_variant A33V 98C>T GBM-US 13 111371669 111371669 single base substitution C T missense_variant A77V 230C>T GBM-US 13 111371669 111371669 single base substitution C T missense_variant A8V 23C>T LAML-KR 13 111377351 111377351 single base substitution G A downstream_gene_variant LAML-KR 13 111377541 111377541 single base substitution G C downstream_gene_variant LGG-US 13 111372025 111372025 single base substitution C T downstream_gene_variant LGG-US 13 111372025 111372025 single base substitution C T stop_gained R127* 379C>T LGG-US 13 111372025 111372025 single base substitution C T stop_gained R152* 454C>T LGG-US 13 111372025 111372025 single base substitution C T stop_gained R196* 586C>T LGG-US 13 111372025 111372025 single base substitution C T stop_gained R339* 1015C>T LICA-FR 13 111368590 111368590 single base substitution C G intron_variant LICA-FR 13 111371752 111371752 single base substitution C A exon_variant LICA-FR 13 111371752 111371752 single base substitution C A missense_variant Q105K 313C>A LICA-FR 13 111371752 111371752 single base substitution C A missense_variant Q248K 742C>A LICA-FR 13 111371752 111371752 single base substitution C A missense_variant Q36K 106C>A LICA-FR 13 111371752 111371752 single base substitution C A missense_variant Q61K 181C>A LICA-FR 13 111377265 111377265 insertion of <=200bp - TT downstream_gene_variant LINC-JP 13 111363640 111363640 single base substitution T G upstream_gene_variant LINC-JP 13 111368023 111368023 single base substitution C T intron_variant LINC-JP 13 111368023 111368023 single base substitution C T missense_variant S78F 233C>T LINC-JP 13 111372314 111372314 single base substitution A G 3_prime_UTR_variant LINC-JP 13 111372314 111372314 single base substitution A G downstream_gene_variant LINC-JP 13 111374140 111374140 single base substitution C T downstream_gene_variant LIRI-JP 13 111360291 111360291 single base substitution G A upstream_gene_variant LIRI-JP 13 111360505 111360505 deletion of <=200bp T - upstream_gene_variant LIRI-JP 13 111360508 111360508 single base substitution T G upstream_gene_variant LIRI-JP 13 111360509 111360509 single base substitution G T upstream_gene_variant LIRI-JP 13 111362598 111362598 single base substitution C T upstream_gene_variant LIRI-JP 13 111363697 111363697 single base substitution C T upstream_gene_variant LIRI-JP 13 111368461 111368461 single base substitution C T intron_variant LIRI-JP 13 111371524 111371524 single base substitution G T intron_variant LIRI-JP 13 111372936 111372936 single base substitution A G 3_prime_UTR_variant LIRI-JP 13 111372936 111372936 single base substitution A G downstream_gene_variant LIRI-JP 13 111375190 111375190 single base substitution A T downstream_gene_variant LIRI-JP 13 111375199 111375199 single base substitution A C downstream_gene_variant LUSC-KR 13 111362661 111362661 single base substitution G A upstream_gene_variant LUSC-KR 13 111365484 111365484 single base substitution G T intron_variant LUSC-KR 13 111365484 111365484 single base substitution G T upstream_gene_variant LUSC-KR 13 111366565 111366565 single base substitution C T intron_variant LUSC-KR 13 111366565 111366565 single base substitution C T synonymous_variant I23I 69C>T LUSC-KR 13 111366565 111366565 single base substitution C T upstream_gene_variant LUSC-KR 13 111366703 111366703 single base substitution G C intron_variant LUSC-KR 13 111366703 111366703 single base substitution G C upstream_gene_variant LUSC-KR 13 111376585 111376585 single base substitution G T downstream_gene_variant LUSC-US 13 111368196 111368196 single base substitution G T intron_variant LUSC-US 13 111368196 111368196 single base substitution G T missense_variant G136W 406G>T MALY-DE 13 111361739 111361739 single base substitution C A upstream_gene_variant MALY-DE 13 111362905 111362905 single base substitution G A upstream_gene_variant MALY-DE 13 111364775 111364775 single base substitution G A upstream_gene_variant MALY-DE 13 111365133 111365133 single base substitution G A 5_prime_UTR_variant MALY-DE 13 111365133 111365133 single base substitution G A upstream_gene_variant MALY-DE 13 111365366 111365366 single base substitution C T intron_variant MALY-DE 13 111365366 111365366 single base substitution C T upstream_gene_variant MALY-DE 13 111367774 111367774 single base substitution C G 5_prime_UTR_variant MALY-DE 13 111367774 111367774 single base substitution C G intron_variant MALY-DE 13 111367774 111367774 single base substitution C G upstream_gene_variant MALY-DE 13 111367940 111367940 single base substitution A G intron_variant MALY-DE 13 111367940 111367940 single base substitution A G synonymous_variant G50G 150A>G MALY-DE 13 111372064 111372064 single base substitution G T downstream_gene_variant MALY-DE 13 111372064 111372064 single base substitution G T stop_gained E140* 418G>T MALY-DE 13 111372064 111372064 single base substitution G T stop_gained E165* 493G>T MALY-DE 13 111372064 111372064 single base substitution G T stop_gained E209* 625G>T MALY-DE 13 111372064 111372064 single base substitution G T stop_gained E352* 1054G>T MALY-DE 13 111378372 111378372 single base substitution C T downstream_gene_variant MELA-AU 13 111360811 111360811 single base substitution G A upstream_gene_variant MELA-AU 13 111361426 111361426 single base substitution T C upstream_gene_variant MELA-AU 13 111361554 111361554 single base substitution C T upstream_gene_variant MELA-AU 13 111361710 111361710 single base substitution G A upstream_gene_variant MELA-AU 13 111361730 111361730 single base substitution C T upstream_gene_variant MELA-AU 13 111361789 111361789 single base substitution A C upstream_gene_variant MELA-AU 13 111362605 111362605 single base substitution C G upstream_gene_variant MELA-AU 13 111362648 111362648 single base substitution G C upstream_gene_variant MELA-AU 13 111363295 111363295 single base substitution A T upstream_gene_variant MELA-AU 13 111363782 111363782 single base substitution A C upstream_gene_variant MELA-AU 13 111364875 111364875 single base substitution G A upstream_gene_variant MELA-AU 13 111364876 111364876 insertion of <=200bp - AA upstream_gene_variant MELA-AU 13 111364876 111364876 insertion of <=200bp - A upstream_gene_variant MELA-AU 13 111364877 111364877 insertion of <=200bp - AG upstream_gene_variant MELA-AU 13 111364878 111364879 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 13 111364879 111364879 single base substitution G A upstream_gene_variant MELA-AU 13 111365421 111365421 single base substitution C T intron_variant MELA-AU 13 111365421 111365421 single base substitution C T upstream_gene_variant MELA-AU 13 111365424 111365424 single base substitution C T intron_variant MELA-AU 13 111365424 111365424 single base substitution C T upstream_gene_variant MELA-AU 13 111365425 111365425 single base substitution C A intron_variant MELA-AU 13 111365425 111365425 single base substitution C A upstream_gene_variant MELA-AU 13 111365506 111365506 single base substitution C T intron_variant MELA-AU 13 111365506 111365506 single base substitution C T upstream_gene_variant MELA-AU 13 111367615 111367615 single base substitution G A 5_prime_UTR_variant MELA-AU 13 111367615 111367615 single base substitution G A intron_variant MELA-AU 13 111367615 111367615 single base substitution G A upstream_gene_variant MELA-AU 13 111367693 111367693 single base substitution C T 5_prime_UTR_variant MELA-AU 13 111367693 111367693 single base substitution C T intron_variant MELA-AU 13 111367693 111367693 single base substitution C T upstream_gene_variant MELA-AU 13 111367893 111367893 single base substitution C T intron_variant MELA-AU 13 111367893 111367893 single base substitution C T missense_variant R35C 103C>T MELA-AU 13 111368047 111368047 single base substitution C T intron_variant MELA-AU 13 111368047 111368047 single base substitution C T missense_variant S86F 257C>T MELA-AU 13 111368079 111368079 single base substitution C T intron_variant MELA-AU 13 111368079 111368079 single base substitution C T missense_variant P97S 289C>T MELA-AU 13 111369218 111369218 single base substitution T G intron_variant MELA-AU 13 111370182 111370200 deletion of <=200bp AAAAAAAGGTAGTATTGTT - intron_variant MELA-AU 13 111370859 111370859 single base substitution A G intron_variant MELA-AU 13 111371754 111371754 single base substitution G A exon_variant MELA-AU 13 111371754 111371754 single base substitution G A synonymous_variant Q105Q 315G>A MELA-AU 13 111371754 111371754 single base substitution G A synonymous_variant Q248Q 744G>A MELA-AU 13 111371754 111371754 single base substitution G A synonymous_variant Q36Q 108G>A MELA-AU 13 111371754 111371754 single base substitution G A synonymous_variant Q61Q 183G>A MELA-AU 13 111371913 111371914 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 13 111371913 111371914 multiple base substitution (>=2bp and <=200bp) CC TA missense_variant NR114NS MELA-AU 13 111371913 111371914 multiple base substitution (>=2bp and <=200bp) CC TA missense_variant NR158NS MELA-AU 13 111371913 111371914 multiple base substitution (>=2bp and <=200bp) CC TA missense_variant NR301NS MELA-AU 13 111371913 111371914 multiple base substitution (>=2bp and <=200bp) CC TA missense_variant NR89NS MELA-AU 13 111374070 111374070 single base substitution G A downstream_gene_variant MELA-AU 13 111375204 111375204 single base substitution C T downstream_gene_variant MELA-AU 13 111375839 111375839 single base substitution C T downstream_gene_variant MELA-AU 13 111375946 111375946 single base substitution A C downstream_gene_variant MELA-AU 13 111376698 111376698 single base substitution C T downstream_gene_variant MELA-AU 13 111376905 111376905 single base substitution C T downstream_gene_variant MELA-AU 13 111377150 111377150 single base substitution C T downstream_gene_variant MELA-AU 13 111377389 111377389 single base substitution C T downstream_gene_variant ORCA-IN 13 111362446 111362446 single base substitution G A upstream_gene_variant OV-US 13 111372144 111372144 single base substitution G T downstream_gene_variant OV-US 13 111372144 111372144 single base substitution G T missense_variant W166C 498G>T OV-US 13 111372144 111372144 single base substitution G T missense_variant W191C 573G>T OV-US 13 111372144 111372144 single base substitution G T missense_variant W235C 705G>T OV-US 13 111372144 111372144 single base substitution G T missense_variant W378C 1134G>T PACA-AU 13 111367615 111367615 single base substitution G A 5_prime_UTR_variant PACA-AU 13 111367615 111367615 single base substitution G A intron_variant PACA-AU 13 111367615 111367615 single base substitution G A upstream_gene_variant PACA-AU 13 111370622 111370622 single base substitution C A intron_variant PACA-CA 13 111363855 111363855 single base substitution C T upstream_gene_variant PACA-CA 13 111365893 111365893 single base substitution G A 5_prime_UTR_variant PACA-CA 13 111365893 111365893 single base substitution G A intron_variant PACA-CA 13 111365893 111365893 single base substitution G A upstream_gene_variant PACA-CA 13 111367541 111367541 single base substitution G A 5_prime_UTR_variant PACA-CA 13 111367541 111367541 single base substitution G A intron_variant PACA-CA 13 111367541 111367541 single base substitution G A upstream_gene_variant PACA-CA 13 111371142 111371144 deletion of <=200bp TAA - intron_variant PACA-CA 13 111373072 111373072 single base substitution G C 3_prime_UTR_variant PACA-CA 13 111373072 111373072 single base substitution G C downstream_gene_variant PACA-CA 13 111375096 111375096 single base substitution T A downstream_gene_variant PBCA-DE 13 111362268 111362268 single base substitution T A upstream_gene_variant PBCA-DE 13 111375315 111375315 single base substitution C T downstream_gene_variant PRAD-CA 13 111377819 111377819 single base substitution A T downstream_gene_variant PRAD-UK 13 111369046 111369046 single base substitution A C intron_variant PRAD-UK 13 111372033 111372033 single base substitution G A downstream_gene_variant PRAD-UK 13 111372033 111372033 single base substitution G A synonymous_variant A129A 387G>A PRAD-UK 13 111372033 111372033 single base substitution G A synonymous_variant A154A 462G>A PRAD-UK 13 111372033 111372033 single base substitution G A synonymous_variant A198A 594G>A PRAD-UK 13 111372033 111372033 single base substitution G A synonymous_variant A341A 1023G>A PRAD-UK 13 111374143 111374143 single base substitution G A downstream_gene_variant PRAD-UK 13 111374171 111374171 single base substitution G A downstream_gene_variant READ-US 13 111368164 111368164 single base substitution T G intron_variant READ-US 13 111368164 111368164 single base substitution T G missense_variant L125R 374T>G READ-US 13 111368316 111368316 single base substitution C T intron_variant READ-US 13 111368316 111368316 single base substitution C T synonymous_variant L176L 526C>T READ-US 13 111372025 111372025 single base substitution C T downstream_gene_variant READ-US 13 111372025 111372025 single base substitution C T stop_gained R127* 379C>T READ-US 13 111372025 111372025 single base substitution C T stop_gained R152* 454C>T READ-US 13 111372025 111372025 single base substitution C T stop_gained R196* 586C>T READ-US 13 111372025 111372025 single base substitution C T stop_gained R339* 1015C>T SKCA-BR 13 111362170 111362170 single base substitution A G upstream_gene_variant SKCA-BR 13 111364725 111364725 single base substitution G C upstream_gene_variant SKCA-BR 13 111364875 111364875 insertion of <=200bp - GAA upstream_gene_variant SKCA-BR 13 111364875 111364875 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 13 111364875 111364875 single base substitution G A upstream_gene_variant SKCA-BR 13 111364878 111364878 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 13 111365057 111365057 single base substitution G C upstream_gene_variant SKCA-BR 13 111365984 111365984 single base substitution C G 5_prime_UTR_variant SKCA-BR 13 111365984 111365984 single base substitution C G intron_variant SKCA-BR 13 111365984 111365984 single base substitution C G upstream_gene_variant SKCA-BR 13 111366098 111366098 single base substitution T C 5_prime_UTR_variant SKCA-BR 13 111366098 111366098 single base substitution T C intron_variant SKCA-BR 13 111366098 111366098 single base substitution T C upstream_gene_variant SKCA-BR 13 111366446 111366446 single base substitution T G 5_prime_UTR_variant SKCA-BR 13 111366446 111366446 single base substitution T G intron_variant SKCA-BR 13 111366446 111366446 single base substitution T G upstream_gene_variant SKCA-BR 13 111367883 111367883 single base substitution T G intron_variant SKCA-BR 13 111367883 111367883 single base substitution T G synonymous_variant G31G 93T>G SKCA-BR 13 111368170 111368170 single base substitution T C intron_variant SKCA-BR 13 111368170 111368170 single base substitution T C missense_variant L127P 380T>C SKCA-BR 13 111371444 111371444 single base substitution T G intron_variant SKCA-BR 13 111372155 111372155 single base substitution C T downstream_gene_variant SKCA-BR 13 111372155 111372155 single base substitution C T missense_variant S170L 509C>T SKCA-BR 13 111372155 111372155 single base substitution C T missense_variant S195L 584C>T SKCA-BR 13 111372155 111372155 single base substitution C T missense_variant S239L 716C>T SKCA-BR 13 111372155 111372155 single base substitution C T missense_variant S382L 1145C>T SKCA-BR 13 111377183 111377183 single base substitution C T downstream_gene_variant SKCA-BR 13 111377264 111377264 insertion of <=200bp - CTT downstream_gene_variant SKCM-US 13 111368020 111368020 single base substitution C T intron_variant SKCM-US 13 111368020 111368020 single base substitution C T missense_variant S77F 230C>T SKCM-US 13 111368024 111368024 single base substitution C T intron_variant SKCM-US 13 111368024 111368024 single base substitution C T synonymous_variant S78S 234C>T SKCM-US 13 111368079 111368079 single base substitution C T intron_variant SKCM-US 13 111368079 111368079 single base substitution C T missense_variant P97S 289C>T SKCM-US 13 111371712 111371712 single base substitution C T exon_variant SKCM-US 13 111371712 111371712 single base substitution C T synonymous_variant I22I 66C>T SKCM-US 13 111371712 111371712 single base substitution C T synonymous_variant I234I 702C>T SKCM-US 13 111371712 111371712 single base substitution C T synonymous_variant I47I 141C>T SKCM-US 13 111371712 111371712 single base substitution C T synonymous_variant I91I 273C>T STAD-US 13 111367991 111367991 single base substitution T G intron_variant STAD-US 13 111367991 111367991 single base substitution T G synonymous_variant G67G 201T>G STAD-US 13 111371744 111371744 single base substitution G A exon_variant STAD-US 13 111371744 111371744 single base substitution G A missense_variant R102H 305G>A STAD-US 13 111371744 111371744 single base substitution G A missense_variant R245H 734G>A STAD-US 13 111371744 111371744 single base substitution G A missense_variant R33H 98G>A STAD-US 13 111371744 111371744 single base substitution G A missense_variant R58H 173G>A STAD-US 13 111371924 111371924 single base substitution C T downstream_gene_variant STAD-US 13 111371924 111371924 single base substitution C T missense_variant A118V 353C>T STAD-US 13 111371924 111371924 single base substitution C T missense_variant A162V 485C>T STAD-US 13 111371924 111371924 single base substitution C T missense_variant A305V 914C>T STAD-US 13 111371924 111371924 single base substitution C T missense_variant A93V 278C>T STAD-US 13 111371946 111371946 single base substitution C T downstream_gene_variant STAD-US 13 111371946 111371946 single base substitution C T synonymous_variant D100D 300C>T STAD-US 13 111371946 111371946 single base substitution C T synonymous_variant D125D 375C>T STAD-US 13 111371946 111371946 single base substitution C T synonymous_variant D169D 507C>T STAD-US 13 111371946 111371946 single base substitution C T synonymous_variant D312D 936C>T STAD-US 13 111371952 111371952 single base substitution C T downstream_gene_variant STAD-US 13 111371952 111371952 single base substitution C T synonymous_variant G102G 306C>T STAD-US 13 111371952 111371952 single base substitution C T synonymous_variant G127G 381C>T STAD-US 13 111371952 111371952 single base substitution C T synonymous_variant G171G 513C>T STAD-US 13 111371952 111371952 single base substitution C T synonymous_variant G314G 942C>T STAD-US 13 111372025 111372025 single base substitution C T downstream_gene_variant STAD-US 13 111372025 111372025 single base substitution C T stop_gained R127* 379C>T STAD-US 13 111372025 111372025 single base substitution C T stop_gained R152* 454C>T STAD-US 13 111372025 111372025 single base substitution C T stop_gained R196* 586C>T STAD-US 13 111372025 111372025 single base substitution C T stop_gained R339* 1015C>T STAD-US 13 111372042 111372042 single base substitution C T downstream_gene_variant STAD-US 13 111372042 111372042 single base substitution C T synonymous_variant A132A 396C>T STAD-US 13 111372042 111372042 single base substitution C T synonymous_variant A157A 471C>T STAD-US 13 111372042 111372042 single base substitution C T synonymous_variant A201A 603C>T STAD-US 13 111372042 111372042 single base substitution C T synonymous_variant A344A 1032C>T STAD-US 13 111372083 111372083 single base substitution G A downstream_gene_variant STAD-US 13 111372083 111372083 single base substitution G A missense_variant C146Y 437G>A STAD-US 13 111372083 111372083 single base substitution G A missense_variant C171Y 512G>A STAD-US 13 111372083 111372083 single base substitution G A missense_variant C215Y 644G>A STAD-US 13 111372083 111372083 single base substitution G A missense_variant C358Y 1073G>A THCA-SA 13 111372460 111372460 single base substitution G A 3_prime_UTR_variant THCA-SA 13 111372460 111372460 single base substitution G A downstream_gene_variant UCEC-US 13 111365324 111365324 single base substitution G T stop_gained E2* 4G>T UCEC-US 13 111365324 111365324 single base substitution G T upstream_gene_variant UCEC-US 13 111371713 111371713 single base substitution G A exon_variant UCEC-US 13 111371713 111371713 single base substitution G A missense_variant V235M 703G>A UCEC-US 13 111371713 111371713 single base substitution G A missense_variant V23M 67G>A UCEC-US 13 111371713 111371713 single base substitution G A missense_variant V48M 142G>A UCEC-US 13 111371713 111371713 single base substitution G A missense_variant V92M 274G>A UCEC-US 13 111371744 111371744 single base substitution G A exon_variant UCEC-US 13 111371744 111371744 single base substitution G A missense_variant R102H 305G>A UCEC-US 13 111371744 111371744 single base substitution G A missense_variant R245H 734G>A UCEC-US 13 111371744 111371744 single base substitution G A missense_variant R33H 98G>A UCEC-US 13 111371744 111371744 single base substitution G A missense_variant R58H 173G>A UCEC-US 13 111371784 111371784 single base substitution G A exon_variant UCEC-US 13 111371784 111371784 single base substitution G A synonymous_variant A115A 345G>A UCEC-US 13 111371784 111371784 single base substitution G A synonymous_variant A258A 774G>A UCEC-US 13 111371784 111371784 single base substitution G A synonymous_variant A46A 138G>A UCEC-US 13 111371784 111371784 single base substitution G A synonymous_variant A71A 213G>A UCEC-US 13 111371951 111371951 single base substitution G A downstream_gene_variant UCEC-US 13 111371951 111371951 single base substitution G A missense_variant G102D 305G>A UCEC-US 13 111371951 111371951 single base substitution G A missense_variant G127D 380G>A UCEC-US 13 111371951 111371951 single base substitution G A missense_variant G171D 512G>A UCEC-US 13 111371951 111371951 single base substitution G A missense_variant G314D 941G>A UCEC-US 13 111371953 111371953 single base substitution G A downstream_gene_variant UCEC-US 13 111371953 111371953 single base substitution G A missense_variant A103T 307G>A UCEC-US 13 111371953 111371953 single base substitution G A missense_variant A128T 382G>A UCEC-US 13 111371953 111371953 single base substitution G A missense_variant A172T 514G>A UCEC-US 13 111371953 111371953 single base substitution G A missense_variant A315T 943G>A UCEC-US 13 111372025 111372025 single base substitution C T downstream_gene_variant UCEC-US 13 111372025 111372025 single base substitution C T stop_gained R127* 379C>T UCEC-US 13 111372025 111372025 single base substitution C T stop_gained R152* 454C>T UCEC-US 13 111372025 111372025 single base substitution C T stop_gained R196* 586C>T UCEC-US 13 111372025 111372025 single base substitution C T stop_gained R339* 1015C>T UCEC-US 13 111372064 111372064 single base substitution G A downstream_gene_variant UCEC-US 13 111372064 111372064 single base substitution G A missense_variant E140K 418G>A UCEC-US 13 111372064 111372064 single base substitution G A missense_variant E165K 493G>A UCEC-US 13 111372064 111372064 single base substitution G A missense_variant E209K 625G>A UCEC-US 13 111372064 111372064 single base substitution G A missense_variant E352K 1054G>A UCEC-US 13 111372064 111372064 single base substitution G T downstream_gene_variant UCEC-US 13 111372064 111372064 single base substitution G T stop_gained E140* 418G>T UCEC-US 13 111372064 111372064 single base substitution G T stop_gained E165* 493G>T UCEC-US 13 111372064 111372064 single base substitution G T stop_gained E209* 625G>T UCEC-US 13 111372064 111372064 single base substitution G T stop_gained E352* 1054G>T UCEC-US 13 111372117 111372117 single base substitution C T downstream_gene_variant UCEC-US 13 111372117 111372117 single base substitution C T synonymous_variant C157C 471C>T UCEC-US 13 111372117 111372117 single base substitution C T synonymous_variant C182C 546C>T UCEC-US 13 111372117 111372117 single base substitution C T synonymous_variant C226C 678C>T UCEC-US 13 111372117 111372117 single base substitution C T synonymous_variant C369C 1107C>T UCEC-US 13 111372118 111372118 single base substitution G T downstream_gene_variant UCEC-US 13 111372118 111372118 single base substitution G T missense_variant D158Y 472G>T UCEC-US 13 111372118 111372118 single base substitution G T missense_variant D183Y 547G>T UCEC-US 13 111372118 111372118 single base substitution G T missense_variant D227Y 679G>T UCEC-US 13 111372118 111372118 single base substitution G T missense_variant D370Y 1108G>T UCEC-US 13 111372127 111372127 single base substitution G T downstream_gene_variant UCEC-US 13 111372127 111372127 single base substitution G T stop_gained E161* 481G>T UCEC-US 13 111372127 111372127 single base substitution G T stop_gained E186* 556G>T UCEC-US 13 111372127 111372127 single base substitution G T stop_gained E230* 688G>T UCEC-US 13 111372127 111372127 single base substitution G T stop_gained E373* 1117G>T UCEC-US 13 111372144 111372144 single base substitution G A downstream_gene_variant UCEC-US 13 111372144 111372144 single base substitution G A stop_gained W166* 498G>A UCEC-US 13 111372144 111372144 single base substitution G A stop_gained W191* 573G>A UCEC-US 13 111372144 111372144 single base substitution G A stop_gained W235* 705G>A UCEC-US 13 111372144 111372144 single base substitution G A stop_gained W378* 1134G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YUDAB COSM1707028 c.904C>A p.R302S Substitution - Missense 13:110719567-110719567 + P147 COSM1737226 c.492C>A p.S164R Substitution - Missense 13:110719584-110719584 + TCGA-AZ-4615-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + TCGA-AP-A056-01 COSM945396 c.305G>A p.R102H Substitution - Missense 13:110719397-110719397 + TCGA-AZ-5403-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + 0030_CRUK_PC_0030_T1_DNA COSM5423161 c.594G>A p.A198A Substitution - coding silent 13:110719686-110719686 + HCT116 COSM2263324 c.898G>A p.E300K Substitution - Missense 13:110719561-110719561 + PTC-28C COSM4147581 c.916T>C p.S306P Substitution - Missense 13:110719579-110719579 + ESCC_164 COSM5648185 c.416C>T p.A139V Substitution - Missense 13:110719508-110719508 + TCGA-AA-3502-01 COSM945410 c.1108G>T p.D370Y Substitution - Missense 13:110719771-110719771 + 2492721 COSM5722153 c.570C>T p.I190I Substitution - coding silent 13:110719233-110719233 + TCGA-D8-A27V-01 COSM3813410 c.259G>A p.E87K Substitution - Missense 13:110719351-110719351 + tumor_4166503 COSM945404 c.1054G>T p.E352* Substitution - Nonsense 13:110719717-110719717 + CH-54-T2 COSM5651036 c.673G>C p.G225R Substitution - Missense 13:110719765-110719765 + 61 COSM5740019 c.719G>A p.C240Y Substitution - Missense 13:110719811-110719811 + CHC218T COSM4801062 c.742C>A p.Q248K Substitution - Missense 13:110719405-110719405 + RKO COSM2263330 c.923A>C p.N308T Substitution - Missense 13:110719586-110719586 + P147 COSM1737225 c.921C>A p.S307R Substitution - Missense 13:110719584-110719584 + B89-16-Tumor COSM945403 c.1015C>T p.R339* Substitution - Nonsense 13:110719678-110719678 + RKO COSM4647676 c.315G>A p.A105A Substitution - coding silent 13:110715758-110715758 + YULAD COSM5376382 c.112C>T p.R38W Substitution - Missense 13:110714261-110714261 + TCGA-BG-A0M9-01 COSM945412 c.1117G>T p.E373* Substitution - Nonsense 13:110719780-110719780 + Au2 COSM5599705 c.971C>T p.A324V Substitution - Missense 13:110719634-110719634 + 587234 COSM1210668 c.1103G>A p.G368D Substitution - Missense 13:110719766-110719766 + TCGA-B5-A11W-01 COSM945403 c.1015C>T p.R339* Substitution - Nonsense 13:110719678-110719678 + TCGA-24-1424-01 COSM75011 c.705G>T p.W235C Substitution - Missense 13:110719797-110719797 + LCH-4 COSM2263343 c.679G>A p.D227N Substitution - Missense 13:110719771-110719771 + TCGA-BR-8680-01 COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + TCGA-DM-A28K-01 COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + TCGA-06-5858-01 COSM3399234 c.659C>T p.A220V Substitution - Missense 13:110719322-110719322 + T3267 COSM4045986 c.513C>T p.G171G Substitution - coding silent 13:110719605-110719605 + TCGA-MY-A5BE-01 COSM4855818 c.41G>A p.R14Q Substitution - Missense 13:110715484-110715484 + 585265 COSM321008 c.451C>T p.R151W Substitution - Missense 13:110715894-110715894 + BD121T COSM945406 c.1054G>A p.E352K Substitution - Missense 13:110719717-110719717 + TCGA-D3-A3MV-06 COSM3467259 c.273C>T p.I91I Substitution - coding silent 13:110719365-110719365 + 8804_PT COSM5754034 c.1101C>G p.I367M Substitution - Missense 13:110719764-110719764 + TCGA-AP-A059-01 COSM945415 c.705G>A p.W235* Substitution - Nonsense 13:110719797-110719797 + I2L-P5-Tumor-Organoid COSM945403 c.1015C>T p.R339* Substitution - Nonsense 13:110719678-110719678 + TCGA-AP-A056-01 COSM945395 c.734G>A p.R245H Substitution - Missense 13:110719397-110719397 + ESCC_164 COSM5648184 c.845C>T p.A282V Substitution - Missense 13:110719508-110719508 + 11M COSM5576717 c.260C>T p.S87F Substitution - Missense 13:110715703-110715703 + TCGA-AR-A1AH-01 COSM432123 c.943G>T p.A315S Substitution - Missense 13:110719606-110719606 + SK-OV-3 COSM1677802 c.1169C>A p.P390H Substitution - Missense 13:110719832-110719832 + TCGA-AY-6386-01 COSM3749237 c.374T>G p.L125R Substitution - Missense TCGA-BS-A0UA-01 COSM945403 c.1015C>T p.R339* Substitution - Nonsense 13:110719678-110719678 + TCGA-D7-A4YV-01 COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + sysucc-966T COSM5487032 c.1180T>A p.W394R Substitution - Missense 13:110719843-110719843 + TCGA-AG-4022-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + SM-4B296 COSM4411720 c.390C>T p.L130L Substitution - coding silent 13:110715833-110715833 + TCGA-F4-6570-01 COSM1365483 c.1192A>T p.K398* Substitution - Nonsense 13:110719855-110719855 + TCGA-AR-A1AH-01 COSM432124 c.514G>T p.A172S Substitution - Missense 13:110719606-110719606 + CSCC-32-T COSM4488912 c.33C>T p.H11H Substitution - coding silent 13:110714182-110714182 + TCGA-FU-A57G-01 COSM4829300 c.886C>T p.Q296* Substitution - Nonsense 13:110719549-110719549 + 6115114 COSM5560457 c.669G>A p.M223I Substitution - Missense 13:110719761-110719761 + TCGA-AA-A010-01 COSM281927 c.505G>A p.D169N Substitution - Missense 13:110719597-110719597 + ESO-117 COSM1254832 c.125C>T p.S42L Substitution - Missense 13:110715568-110715568 + 2492721 COSM5722154 c.141C>T p.I47I Substitution - coding silent 13:110719233-110719233 + TCGA-AC-A23H-01 COSM3813404 c.149G>T p.G50V Substitution - Missense 13:110715592-110715592 + 2492722 COSM5722154 c.141C>T p.I47I Substitution - coding silent 13:110719233-110719233 + I2L-P5-Tumor-Organoid COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + CSCC-38-T COSM4456292 c.1004C>T p.A335V Substitution - Missense 13:110719667-110719667 + TCGA-AP-A059-01 COSM945397 c.774G>A p.A258A Substitution - coding silent 13:110719437-110719437 + 2492702 COSM5599705 c.971C>T p.A324V Substitution - Missense 13:110719634-110719634 + BD110T COSM5514285 c.608G>A p.R203H Substitution - Missense 13:110719271-110719271 + TCGA-BR-4368-01 COSM4045979 c.914C>T p.A305V Substitution - Missense 13:110719577-110719577 + S01578 COSM5670299 c.182G>T p.G61V Substitution - Missense 13:110715625-110715625 + I2L-P7-Tumor-Organoid COSM5182457 c.409G>A p.E137K Substitution - Missense 13:110719501-110719501 + PT38 COSM5923037 c.29C>T p.S10F Substitution - Missense 13:110715472-110715472 + CSCC-20-T COSM4457319 c.103C>T p.R35C Substitution - Missense 13:110715546-110715546 + TCGA-AP-A059-01 COSM945398 c.345G>A p.A115A Substitution - coding silent 13:110719437-110719437 + TCGA-F5-6861-01 COSM945403 c.1015C>T p.R339* Substitution - Nonsense 13:110719678-110719678 + NB07C COSM1236442 c.583G>T p.D195Y Substitution - Missense 13:110719246-110719246 + TCGA-D8-A1JA-01 COSM3813413 c.777G>A p.E259E Substitution - coding silent 13:110719869-110719869 + TCGA-D8-A27V-01 COSM3813409 c.688G>A p.E230K Substitution - Missense 13:110719351-110719351 + PTC-28C COSM3749237 c.374T>G p.L125R Substitution - Missense TCGA-AG-4022-01 COSM3749237 c.374T>G p.L125R Substitution - Missense TCGA-CG-5726-01 COSM4045988 c.1032C>T p.A344A Substitution - coding silent 13:110719695-110719695 + TCGA-AA-3663-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + sysucc-1370T COSM5470113 c.875G>A p.R292H Substitution - Missense 13:110719538-110719538 + CHC218T COSM4801063 c.313C>A p.Q105K Substitution - Missense 13:110719405-110719405 + ESCC_BICR_045T COSM5441566 c.208C>G p.R70G Substitution - Missense 13:110715651-110715651 + BD121T COSM945407 c.625G>A p.E209K Substitution - Missense 13:110719717-110719717 + 2492723 COSM5722154 c.141C>T p.I47I Substitution - coding silent 13:110719233-110719233 + PTC-54C COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + TCGA-A6-5667-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + PTC-28C COSM4147582 c.487T>C p.S163P Substitution - Missense 13:110719579-110719579 + TCGA-GM-A2DF-01 COSM3813405 c.390C>G p.L130L Substitution - coding silent 13:110715833-110715833 + TCGA-BG-A0M9-01 COSM945413 c.688G>T p.E230* Substitution - Nonsense 13:110719780-110719780 + TCGA-G4-6320-01 COSM3688617 c.284C>A p.A95E Substitution - Missense 13:110715727-110715727 + 2492722 COSM5722153 c.570C>T p.I190I Substitution - coding silent 13:110719233-110719233 + YUDAB COSM1707029 c.475C>A p.R159S Substitution - Missense 13:110719567-110719567 + TCGA-BR-4368-01 COSM4045980 c.485C>T p.A162V Substitution - Missense 13:110719577-110719577 + ESO-0071 COSM1254829 c.1196G>A p.C399Y Substitution - Missense 13:110719859-110719859 + TCGA-DM-A28K-01 COSM945403 c.1015C>T p.R339* Substitution - Nonsense 13:110719678-110719678 + TCGA-A5-A0VP-01 COSM945393 c.703G>A p.V235M Substitution - Missense 13:110719366-110719366 + HCC28T COSM3704528 c.233C>T p.S78F Substitution - Missense 13:110715676-110715676 + T3225 COSM4692487 c.820G>A p.A274T Substitution - Missense 13:110719483-110719483 + T1764 COSM4692486 c.307delC p.R103fs*38 Deletion - Frameshift 13:110715750-110715750 + CCRF-CEM COSM1677799 c.631C>T p.R211W Substitution - Missense 13:110719294-110719294 + TCGA-AZ-5407-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + 2492703 COSM5599706 c.542C>T p.A181V Substitution - Missense 13:110719634-110719634 + TCGA-BR-8487-01 COSM945396 c.305G>A p.R102H Substitution - Missense 13:110719397-110719397 + TCGA-37-4135-01 COSM695985 c.406G>T p.G136W Substitution - Missense 13:110715849-110715849 + Pat_01_A COSM5842184 c.308C>T p.T103M Substitution - Missense 13:110719400-110719400 + 8804_PT COSM5754035 c.672C>G p.I224M Substitution - Missense 13:110719764-110719764 + TCGA-BR-8680-01 COSM945403 c.1015C>T p.R339* Substitution - Nonsense 13:110719678-110719678 + TCGA-F4-6570-01 COSM1365484 c.763A>T p.K255* Substitution - Nonsense 13:110719855-110719855 + TCGA-FU-A57G-01 COSM4829301 c.457C>T p.Q153* Substitution - Nonsense 13:110719549-110719549 + TCGA-B5-A0JZ-01 COSM945409 c.678C>T p.C226C Substitution - coding silent 13:110719770-110719770 + CH-54-T2 COSM5651035 c.1102G>C p.G368R Substitution - Missense 13:110719765-110719765 + TCGA-D1-A168-01 COSM945403 c.1015C>T p.R339* Substitution - Nonsense 13:110719678-110719678 + TCGA-AF-6672-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + TCGA-F5-6861-01 COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + 8804_CLM COSM5754034 c.1101C>G p.I367M Substitution - Missense 13:110719764-110719764 + TCGA-DY-A0XA-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + 61 COSM5740018 c.1148G>A p.C383Y Substitution - Missense 13:110719811-110719811 + TCGA-D1-A168-01 COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + TCGA-HT-7607-01 COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + T222 COSM4692493 c.874C>T p.R292C Substitution - Missense 13:110719537-110719537 + TCGA-AF-3911-01 COSM1677800 c.202C>T p.R68W Substitution - Missense 13:110719294-110719294 + CSCC-38-T COSM4456293 c.575C>T p.A192V Substitution - Missense 13:110719667-110719667 + B89-16 COSM945403 c.1015C>T p.R339* Substitution - Nonsense 13:110719678-110719678 + TCGA-BH-A0B6-01 COSM3813407 c.247G>C p.E83Q Substitution - Missense 13:110719339-110719339 + TCGA-AZ-6605-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + ESO-859 COSM1239132 c.770G>A p.R257Q Substitution - Missense 13:110719862-110719862 + Pat_06_A COSM5842180 c.685G>A p.D229N Substitution - Missense 13:110719348-110719348 + TCGA-AP-A0LM-01 COSM945403 c.1015C>T p.R339* Substitution - Nonsense 13:110719678-110719678 + TCGA-B5-A0JY-01 COSM945405 c.625G>T p.E209* Substitution - Nonsense 13:110719717-110719717 + TCGA-HU-A4GH-01 COSM4045978 c.201T>G p.G67G Substitution - coding silent 13:110715644-110715644 + TCGA-CG-5726-01 COSM4045989 c.603C>T p.A201A Substitution - coding silent 13:110719695-110719695 + Esp66 COSM1742595 c.132G>C p.R44S Substitution - Missense 13:110715575-110715575 + TCGA-D8-A1JA-01 COSM3813412 c.1206G>A p.E402E Substitution - coding silent 13:110719869-110719869 + 85 COSM5015197 c.176C>T p.S59L Substitution - Missense 13:110715619-110715619 + 2492701 COSM5599705 c.971C>T p.A324V Substitution - Missense 13:110719634-110719634 + TCGA-ER-A198-06 COSM3467257 c.289C>T p.P97S Substitution - Missense 13:110715732-110715732 + TCGA-CI-6620-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + 2492702 COSM5599706 c.542C>T p.A181V Substitution - Missense 13:110719634-110719634 + T3503 COSM4692491 c.414G>A p.A138A Substitution - coding silent 13:110719506-110719506 + HCC28 COSM3704528 c.233C>T p.S78F Substitution - Missense 13:110715676-110715676 + Au1 COSM5596871 c.1047C>T p.D349D Substitution - coding silent 13:110719710-110719710 + J6_T COSM3955409 c.69C>T p.I23I Substitution - coding silent 13:110714218-110714218 + TCGA-BS-A0TC-01 COSM945406 c.1054G>A p.E352K Substitution - Missense 13:110719717-110719717 + TCGA-G4-6298-01 COSM3749237 c.374T>G p.L125R Substitution - Missense NB07C COSM1236443 c.154G>T p.D52Y Substitution - Missense 13:110719246-110719246 + TCGA-CK-4950-01 COSM1365479 c.165C>G p.N55K Substitution - Missense 13:110715608-110715608 + TCGA-CK-4950-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + TCGA-EE-A29D-06 COSM3467256 c.234C>T p.S78S Substitution - coding silent 13:110715677-110715677 + TCGA-B5-A11W-01 COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + TCGA-06-5858-01 COSM3399235 c.230C>T p.A77V Substitution - Missense 13:110719322-110719322 + TCGA-AH-6644-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + TCGA-D3-A3MV-06 COSM3467258 c.702C>T p.I234I Substitution - coding silent 13:110719365-110719365 + YUKAT COSM5376384 c.745G>A p.G249S Substitution - Missense 13:110719837-110719837 + T3503 COSM4692490 c.843G>A p.A281A Substitution - coding silent 13:110719506-110719506 + ESO-0071 COSM1254830 c.767G>A p.C256Y Substitution - Missense 13:110719859-110719859 + Pat_01_A COSM5842183 c.737C>T p.T246M Substitution - Missense 13:110719400-110719400 + TCGA-B5-A11E-01 COSM945401 c.943G>A p.A315T Substitution - Missense 13:110719606-110719606 + 0030_CRUK_PC_0030_T1_DNA COSM5423160 c.1023G>A p.A341A Substitution - coding silent 13:110719686-110719686 + TCGA-D1-A17C-01 COSM945411 c.679G>T p.D227Y Substitution - Missense 13:110719771-110719771 + sysucc-966T COSM5487033 c.751T>A p.W251R Substitution - Missense 13:110719843-110719843 + BD110T COSM5514286 c.179G>A p.R60H Substitution - Missense 13:110719271-110719271 + Pat_41_B COSM5842179 c.392G>A p.S131N Substitution - Missense 13:110715835-110715835 + 2492701 COSM5599706 c.542C>T p.A181V Substitution - Missense 13:110719634-110719634 + TCGA-HU-A4G9-01 COSM4045982 c.936C>T p.D312D Substitution - coding silent 13:110719599-110719599 + 2492723 COSM5722153 c.570C>T p.I190I Substitution - coding silent 13:110719233-110719233 + CSCC-27-T COSM4460192 c.727C>T p.L243F Substitution - Missense 13:110719819-110719819 + TCGA-CD-A4MI-01 COSM4045986 c.513C>T p.G171G Substitution - coding silent 13:110719605-110719605 + TCGA-AP-A059-01 COSM945414 c.1134G>A p.W378* Substitution - Nonsense 13:110719797-110719797 + ESCC_164 COSM5648181 c.844G>T p.A282S Substitution - Missense 13:110719507-110719507 + SNU-C4 COSM4652368 c.912C>T p.N304N Substitution - coding silent 13:110719575-110719575 + tumor_4166503 COSM945405 c.625G>T p.E209* Substitution - Nonsense 13:110719717-110719717 + Au2 COSM5599706 c.542C>T p.A181V Substitution - Missense 13:110719634-110719634 + T3527 COSM3813409 c.688G>A p.E230K Substitution - Missense 13:110719351-110719351 + TCGA-GM-A2DF-01 COSM3813403 c.58C>G p.L20V Substitution - Missense 13:110714207-110714207 + TCGA-B5-A11E-01 COSM945402 c.514G>A p.A172T Substitution - Missense 13:110719606-110719606 + TCGA-G4-6293-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + TCGA-D1-A17Q-01 COSM945399 c.941G>A p.G314D Substitution - Missense 13:110719604-110719604 + TCGA-BS-A0UA-01 COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + TCGA-BR-6452-01 COSM4045992 c.644G>A p.C215Y Substitution - Missense 13:110719736-110719736 + LUAD-AEIUF COSM403239 c.41G>T p.R14L Substitution - Missense 13:110715484-110715484 + 8804_CLM COSM5754035 c.672C>G p.I224M Substitution - Missense 13:110719764-110719764 + T3267 COSM4045985 c.942C>T p.G314G Substitution - coding silent 13:110719605-110719605 + 587234 COSM1210669 c.674G>A p.G225D Substitution - Missense 13:110719766-110719766 + ESO-859 COSM1239131 c.1199G>A p.R400Q Substitution - Missense 13:110719862-110719862 + TCGA-F4-6808-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + YUFIT COSM3467255 c.230C>T p.S77F Substitution - Missense 13:110715673-110715673 + B89-16 COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + sysucc-880T COSM3399234 c.659C>T p.A220V Substitution - Missense 13:110719322-110719322 + tumor_4166706 COSM3952899 c.150A>G p.G50G Substitution - coding silent 13:110715593-110715593 + 2492700 COSM5599705 c.971C>T p.A324V Substitution - Missense 13:110719634-110719634 + Pat_06_A COSM5842181 c.256G>A p.D86N Substitution - Missense 13:110719348-110719348 + TCGA-CD-A4MI-01 COSM4045985 c.942C>T p.G314G Substitution - coding silent 13:110719605-110719605 + CHC218T COSM4801063 c.313C>A p.Q105K Substitution - Missense 13:110719405-110719405 + TCGA-BH-A0B6-01 COSM3813406 c.676G>C p.E226Q Substitution - Missense 13:110719339-110719339 + TCGA-BR-8487-01 COSM945395 c.734G>A p.R245H Substitution - Missense 13:110719397-110719397 + TCGA-CM-6680-01 COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + ESCC-225T COSM3936241 c.607C>T p.R203C Substitution - Missense 13:110719270-110719270 + LCH-4 COSM2263342 c.1108G>A p.D370N Substitution - Missense 13:110719771-110719771 + TCGA-BS-A0TC-01 COSM945407 c.625G>A p.E209K Substitution - Missense 13:110719717-110719717 + I2L-P7-Tumor-Organoid COSM5182456 c.838G>A p.E280K Substitution - Missense 13:110719501-110719501 + SNU-C4 COSM4652369 c.483C>T p.N161N Substitution - coding silent 13:110719575-110719575 + T222 COSM4692494 c.445C>T p.R149C Substitution - Missense 13:110719537-110719537 + TCGA-ER-A3PL-06 COSM3467255 c.230C>T p.S77F Substitution - Missense 13:110715673-110715673 + TCGA-D1-A17C-01 COSM945410 c.1108G>T p.D370Y Substitution - Missense 13:110719771-110719771 + CCRF-CEM COSM1677800 c.202C>T p.R68W Substitution - Missense 13:110719294-110719294 + CSCC-27-T COSM4548957 c.460G>A p.G154S Substitution - Missense 13:110715903-110715903 + B89-16-Tumor COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + CSCC-27-T COSM4460191 c.1156C>T p.L386F Substitution - Missense 13:110719819-110719819 + TCGA-D1-A17Q-01 COSM945400 c.512G>A p.G171D Substitution - Missense 13:110719604-110719604 + TCGA-AF-3913-01 COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + CSCC-35-T COSM4450164 c.48_74del27 p.E18_A26delEADEGGPSA Deletion - In frame 13:110715491-110715517 + CSCC-2-T COSM4519530 c.1014G>C p.E338D Substitution - Missense 13:110719677-110719677 + 2492700 COSM5599706 c.542C>T p.A181V Substitution - Missense 13:110719634-110719634 + TCGA-D8-A1JN-01 COSM1477062 c.864C>T p.P288P Substitution - coding silent 13:110719527-110719527 + ESCC_164 COSM5648182 c.415G>T p.A139S Substitution - Missense 13:110719507-110719507 + sysucc-1370T COSM5470114 c.446G>A p.R149H Substitution - Missense 13:110719538-110719538 + 6115114 COSM5560456 c.1098G>A p.M366I Substitution - Missense 13:110719761-110719761 + CSCC-2-T COSM4519531 c.585G>C p.E195D Substitution - Missense 13:110719677-110719677 + PTC-7C COSM3749238 c.526C>T p.L176L Substitution - coding silent 13:110715969-110715969 + SK-OV-3 COSM1677803 c.740C>A p.P247H Substitution - Missense 13:110719832-110719832 + TCGA-HT-7607-01 COSM945403 c.1015C>T p.R339* Substitution - Nonsense 13:110719678-110719678 + TCGA-AA-3663-01 COSM3749237 c.374T>G p.L125R Substitution - Missense TCGA-B5-A0JY-01 COSM945404 c.1054G>T p.E352* Substitution - Nonsense 13:110719717-110719717 + ESOSCC159T COSM1171954 c.235G>T p.A79S Substitution - Missense 13:110715678-110715678 + HCT116 COSM2263325 c.469G>A p.E157K Substitution - Missense 13:110719561-110719561 + ESCC-225T COSM3936242 c.178C>T p.R60C Substitution - Missense 13:110719270-110719270 + 2492720 COSM5722154 c.141C>T p.I47I Substitution - coding silent 13:110719233-110719233 + TCGA-B5-A0JZ-01 COSM945408 c.1107C>T p.C369C Substitution - coding silent 13:110719770-110719770 + CHC218T COSM4801062 c.742C>A p.Q248K Substitution - Missense 13:110719405-110719405 + TCGA-D7-A4YV-01 COSM945403 c.1015C>T p.R339* Substitution - Nonsense 13:110719678-110719678 + TCGA-HU-A4G9-01 COSM4045983 c.507C>T p.D169D Substitution - coding silent 13:110719599-110719599 + RKO COSM2263331 c.494A>C p.N165T Substitution - Missense 13:110719586-110719586 + TCGA-AP-A0LM-01 COSM201010 c.586C>T p.R196* Substitution - Nonsense 13:110719678-110719678 + PDA_075 COSM5002139 c.190C>A p.P64T Substitution - Missense 13:110715633-110715633 + TCGA-A5-A0VP-01 COSM945394 c.274G>A p.V92M Substitution - Missense 13:110719366-110719366 + 473 COSM4438088 c.386C>G p.P129R Substitution - Missense 13:110715829-110715829 + T3225 COSM4692488 c.391G>A p.A131T Substitution - Missense 13:110719483-110719483 + YUKAT COSM5376383 c.1174G>A p.G392S Substitution - Missense 13:110719837-110719837 + Au1 COSM5596872 c.618C>T p.D206D Substitution - coding silent 13:110719710-110719710 + CLL099 COSM1289876 c.129G>A p.G43G Substitution - coding silent 13:110715572-110715572 + TCGA-D8-A1JN-01 COSM1477063 c.435C>T p.P145P Substitution - coding silent 13:110719527-110719527 + 2492720 COSM5722153 c.570C>T p.I190I Substitution - coding silent 13:110719233-110719233 + T3527 COSM3813410 c.259G>A p.E87K Substitution - Missense 13:110719351-110719351 + sysucc-880T COSM3399235 c.230C>T p.A77V Substitution - Missense 13:110719322-110719322 + TCGA-BR-6452-01 COSM4045991 c.1073G>A p.C358Y Substitution - Missense 13:110719736-110719736 + TCGA-AA-3502-01 COSM945411 c.679G>T p.D227Y Substitution - Missense 13:110719771-110719771 + HT55 COSM2263289 c.483G>A p.P161P Substitution - coding silent 13:110715926-110715926 + 2492703 COSM5599705 c.971C>T p.A324V Substitution - Missense 13:110719634-110719634 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.46689;Hs.46693;Hs.46700 13q34 601566

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer CC TT Missense p.P11S c.30_31delinsTT 13 111367820 CM C T Missense p.A305V c.914C>T 13 111371924 STAD C T Missense p.P97S c.289C>T 13 111368079 CM C T Missense p.R151W c.451C>T 13 111368241 SCLC C T Missense p.S42L c.125C>T 13 111367915 ESCA C T Nonsense p.R339* c.1015C>T 13 111372025 COREAD C T Nonsense p.R339* c.1015C>T 13 111372025 LGG C T Nonsense p.R339* c.1015C>T 13 111372025 UCEC C T Synonymous p.C369C c.1107C>T 13 111372117 UCEC C T Synonymous p.I234I c.702C>T 13 111371712 CM C T Synonymous p.P288P c.864C>T 13 111371874 BRCA C T Synonymous p.R203R c.609C>T 13 111371619 HNSC C T Synonymous p.S327S c.981C>T 13 111371991 CM G A Missense p.C399Y c.1196G>A 13 111372206 ESCA G A Missense p.E352K c.1054G>A 13 111372064 UCEC G A Missense p.E377K c.1129G>A 13 111372139 COREAD G A Missense p.V235M c.703G>A 13 111371713 UCEC G A Synonymous p.G43G c.129G>A 13 111367919 CLL GG TT Missense p.G43L c.127_128delinsTT 13 111367917 LUAD G T Missense p.A220S c.658G>T 13 111371668 LUAD G T Missense p.A315S c.943G>T 13 111371953 BRCA G T Missense p.D195Y c.583G>T 13 111371593 NB G T Missense p.D370Y c.1108G>T 13 111372118 UCEC G T Missense p.G136W c.406G>T 13 111368196 LUSC G T Missense p.W378C c.1134G>T 13 111372144 OV G T Nonsense p.E373* c.1117G>T 13 111372127 UCEC T G Missense p.L411R c.1232T>G 13 111372242 HNSC T G Missense p.V122G c.365T>G 13 111368155 HNSC