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 3 196198834 196198834 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 g.chr3:196198834C>G c.1572G>C c.(1570-1572)aaG>aaC p.K524N BLCA 3 196198864 196198864 + Silent SNP T T A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr3:196198864T>A c.1542A>T c.(1540-1542)tcA>tcT p.S514S BLCA 3 196198865 196198865 + Nonsense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr3:196198865G>C c.1541C>G c.(1540-1542)tCa>tGa p.S514* BLCA 3 196198909 196198909 + Silent SNP G G A TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr3:196198909G>A c.1497C>T c.(1495-1497)ttC>ttT p.F499F BLCA 3 196199034 196199034 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr3:196199034C>T c.1372G>A c.(1372-1374)Gat>Aat p.D458N BLCA 3 196199142 196199142 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr3:196199142C>T c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K BLCA 3 196199275 196199275 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr3:196199275C>T c.1131G>A c.(1129-1131)tcG>tcA p.S377S BLCA 3 196199401 196199401 + Silent SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr3:196199401G>C c.1005C>G c.(1003-1005)acC>acG p.T335T BLCA 3 196210645 196210645 + Missense_Mutation SNP G G C TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr3:196210645G>C c.676C>G c.(676-678)Cag>Gag p.Q226E BLCA 3 196210763 196210763 + Splice_Site SNP C C G TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 g.chr3:196210763C>G c.e4-1 BLCA 3 196214289 196214289 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr3:196214289C>G c.539G>C c.(538-540)aGa>aCa p.R180T BLCA 3 196230038 196230038 + Missense_Mutation SNP G G C TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr3:196230038G>C c.7C>G c.(7-9)Cta>Gta p.L3V BRCA 3 196199119 196199119 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr3:196199119C>T c.1287G>A c.(1285-1287)ctG>ctA p.L429L BRCA 3 196199186 196199186 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr3:196199186C>G c.1220G>C c.(1219-1221)aGa>aCa p.R407T BRCA 3 196199266 196199266 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr3:196199266C>T c.1140G>A c.(1138-1140)ctG>ctA p.L380L BRCA 3 196199408 196199408 + Missense_Mutation SNP G G C TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 g.chr3:196199408G>C c.998C>G c.(997-999)cCt>cGt p.P333R BRCA 3 196199594 196199594 + Missense_Mutation SNP A A G TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 g.chr3:196199594A>G c.812T>C c.(811-813)aTa>aCa p.I271T BRCA 3 196210659 196210662 + Frame_Shift_Del DEL TTTC TTTC - TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr3:196210659_196210662delTTTC c.659_662delGAAA c.(658-663)agaaacfs p.RN220fs CESC 3 196198875 196198875 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr3:196198875C>G c.1531G>C c.(1531-1533)Gag>Cag p.E511Q CESC 3 196210737 196210737 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:196210737G>A c.584C>T c.(583-585)tCg>tTg p.S195L COAD 3 196198721 196198721 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:196198721A>C c.1685T>G c.(1684-1686)gTt>gGt p.V562G COAD 3 196199142 196199142 + Nonsense_Mutation SNP C C A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr3:196199142C>A c.1264G>T c.(1264-1266)Gaa>Taa p.E422* COAD 3 196199468 196199468 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:196199468T>C c.938A>G c.(937-939)aAc>aGc p.N313S COAD 3 196202128 196202128 + Missense_Mutation SNP C C G TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr3:196202128C>G c.736G>C c.(736-738)Gaa>Caa p.E246Q COAD 3 196214327 196214327 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:196214327C>T c.501G>A c.(499-501)gcG>gcA p.A167A COAD 3 196215520 196215520 + Missense_Mutation SNP T T G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:196215520T>G c.336A>C c.(334-336)aaA>aaC p.K112N COAD 3 196215533 196215533 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr3:196215533C>T c.323G>A c.(322-324)cGt>cAt p.R108H COAD 3 196229836 196229836 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:196229836G>T c.209C>A c.(208-210)tCt>tAt p.S70Y COAD 3 196229864 196229864 + Missense_Mutation SNP A A G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr3:196229864A>G c.181T>C c.(181-183)Tgg>Cgg p.W61R COADREAD 3 196198721 196198721 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:196198721A>C c.1685T>G c.(1684-1686)gTt>gGt p.V562G COADREAD 3 196199068 196199068 + Missense_Mutation SNP G G C TCGA-AG-3887-01A-01W-1073-09 TCGA-AG-3887-10A-01W-1073-09 g.chr3:196199068G>C c.1338C>G c.(1336-1338)gaC>gaG p.D446E COADREAD 3 196199142 196199142 + Nonsense_Mutation SNP C C A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr3:196199142C>A c.1264G>T c.(1264-1266)Gaa>Taa p.E422* COADREAD 3 196199468 196199468 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:196199468T>C c.938A>G c.(937-939)aAc>aGc p.N313S COADREAD 3 196202128 196202128 + Missense_Mutation SNP C C G TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr3:196202128C>G c.736G>C c.(736-738)Gaa>Caa p.E246Q COADREAD 3 196214300 196214300 + Missense_Mutation SNP C C A TCGA-AG-A00H-01A-01W-A00E-09 TCGA-AG-A00H-10A-01W-A00E-09 g.chr3:196214300C>A c.528G>T c.(526-528)gaG>gaT p.E176D COADREAD 3 196214327 196214327 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:196214327C>T c.501G>A c.(499-501)gcG>gcA p.A167A COADREAD 3 196215520 196215520 + Missense_Mutation SNP T T G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:196215520T>G c.336A>C c.(334-336)aaA>aaC p.K112N COADREAD 3 196215533 196215533 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr3:196215533C>T c.323G>A c.(322-324)cGt>cAt p.R108H COADREAD 3 196229836 196229836 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:196229836G>T c.209C>A c.(208-210)tCt>tAt p.S70Y COADREAD 3 196229864 196229864 + Missense_Mutation SNP A A G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr3:196229864A>G c.181T>C c.(181-183)Tgg>Cgg p.W61R COADREAD 3 196229996 196229996 + Missense_Mutation SNP C C T TCGA-DC-6158-01A-11D-1657-10 TCGA-DC-6158-10A-01D-1657-10 g.chr3:196229996C>T c.49G>A c.(49-51)Ggg>Agg p.G17R ESCA 3 196199341 196199341 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 g.chr3:196199341G>A c.1065C>T c.(1063-1065)tgC>tgT p.C355C ESCA 3 196199528 196199528 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr3:196199528G>A c.878C>T c.(877-879)tCa>tTa p.S293L ESCA 3 196214437 196214437 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr3:196214437G>A c.391C>T c.(391-393)Cga>Tga p.R131* GBM 3 196214417 196214417 + Missense_Mutation SNP T T G TCGA-32-1986-01A-01D-1494-08 TCGA-32-1986-10A-01D-1494-08 g.chr3:196214417T>G c.411A>C c.(409-411)gaA>gaC p.E137D GBM 3 196229875 196229876 + Frame_Shift_Del DEL CG CG - TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 g.chr3:196229875_196229876delCG c.169_170delCG c.(169-171)cggfs p.R57fs GBMLGG 3 196214417 196214417 + Missense_Mutation SNP T T G TCGA-32-1986-01A-01D-1494-08 TCGA-32-1986-10A-01D-1494-08 g.chr3:196214417T>G c.411A>C c.(409-411)gaA>gaC p.E137D GBMLGG 3 196229803 196229803 + Missense_Mutation SNP T T C TCGA-E1-5307-01A-01D-1893-08 TCGA-E1-5307-10A-01D-1893-08 g.chr3:196229803T>C c.242A>G c.(241-243)cAa>cGa p.Q81R GBMLGG 3 196229875 196229876 + Frame_Shift_Del DEL CG CG - TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 g.chr3:196229875_196229876delCG c.169_170delCG c.(169-171)cggfs p.R57fs GBMLGG 3 196229932 196229932 + Missense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 g.chr3:196229932G>A c.113C>T c.(112-114)cCg>cTg p.P38L HNSC 3 196198801 196198801 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr3:196198801C>T c.1605G>A c.(1603-1605)aaG>aaA p.K535K HNSC 3 196198983 196198983 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr3:196198983G>A c.1423C>T c.(1423-1425)Cac>Tac p.H475Y HNSC 3 196199094 196199094 + Missense_Mutation SNP C C G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 g.chr3:196199094C>G c.1312G>C c.(1312-1314)Gag>Cag p.E438Q HNSC 3 196210645 196210645 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr3:196210645G>C c.676C>G c.(676-678)Cag>Gag p.Q226E HNSC 3 196210708 196210708 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr3:196210708C>T c.613G>A c.(613-615)Gat>Aat p.D205N HNSC 3 196214338 196214338 + Frame_Shift_Del DEL T T - TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 g.chr3:196214338delT c.490delA c.(490-492)aggfs p.R166fs HNSC 3 196215545 196215545 + Missense_Mutation SNP T T C TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr3:196215545T>C c.311A>G c.(310-312)tAt>tGt p.Y104C KIPAN 3 196214285 196214286 + Frame_Shift_Ins INS - - T TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr3:196214285_196214286insT c.542_543insA c.(541-543)aagfs p.K181fs KIPAN 3 196214405 196214405 + Silent SNP G G T TCGA-EV-5902-01A-11D-1589-08 TCGA-EV-5902-10A-01D-1589-08 g.chr3:196214405G>T c.423C>A c.(421-423)gcC>gcA p.A141A KIPAN 3 196215554 196215554 + Splice_Site SNP G G T TCGA-GL-A9DC-01A-11D-A36X-10 TCGA-GL-A9DC-10A-01D-A370-10 g.chr3:196215554G>T c.302C>A c.(301-303)gCt>gAt p.A101D KIRP 3 196214285 196214286 + Frame_Shift_Ins INS - - T TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr3:196214285_196214286insT c.542_543insA c.(541-543)aagfs p.K181fs KIRP 3 196214405 196214405 + Silent SNP G G T TCGA-EV-5902-01A-11D-1589-08 TCGA-EV-5902-10A-01D-1589-08 g.chr3:196214405G>T c.423C>A c.(421-423)gcC>gcA p.A141A KIRP 3 196215554 196215554 + Splice_Site SNP G G T TCGA-GL-A9DC-01A-11D-A36X-10 TCGA-GL-A9DC-10A-01D-A370-10 g.chr3:196215554G>T c.302C>A c.(301-303)gCt>gAt p.A101D LGG 3 196229803 196229803 + Missense_Mutation SNP T T C TCGA-E1-5307-01A-01D-1893-08 TCGA-E1-5307-10A-01D-1893-08 g.chr3:196229803T>C c.242A>G c.(241-243)cAa>cGa p.Q81R LGG 3 196229932 196229932 + Missense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 g.chr3:196229932G>A c.113C>T c.(112-114)cCg>cTg p.P38L LIHC 3 196199175 196199175 + Missense_Mutation SNP A A G TCGA-2Y-A9H9-01A-21D-A38X-10 TCGA-2Y-A9H9-10A-01D-A38X-10 g.chr3:196199175A>G c.1231T>C c.(1231-1233)Tcc>Ccc p.S411P LIHC 3 196199329 196199329 + Silent SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr3:196199329T>C c.1077A>G c.(1075-1077)tcA>tcG p.S359S LIHC 3 196199524 196199524 + Missense_Mutation SNP T T C TCGA-DD-AAEB-01A-11D-A40R-10 TCGA-DD-AAEB-10A-01D-A40U-10 g.chr3:196199524T>C c.882A>G c.(880-882)atA>atG p.I294M LIHC 3 196199527 196199527 + Silent SNP T T G TCGA-DD-AAEB-01A-11D-A40R-10 TCGA-DD-AAEB-10A-01D-A40U-10 g.chr3:196199527T>G c.879A>C c.(877-879)tcA>tcC p.S293S LUAD 3 196198808 196198808 + Missense_Mutation SNP C C T TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr3:196198808C>T c.1598G>A c.(1597-1599)aGa>aAa p.R533K LUAD 3 196198971 196198971 + Frame_Shift_Del DEL T T - TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr3:196198971delT c.1435delA c.(1435-1437)acafs p.T479fs LUAD 3 196199040 196199040 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 g.chr3:196199040C>G c.1366G>C c.(1366-1368)Gag>Cag p.E456Q LUAD 3 196210727 196210727 + Silent SNP G G A TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr3:196210727G>A c.594C>T c.(592-594)ccC>ccT p.P198P LUAD 3 196229811 196229811 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr3:196229811C>A c.234G>T c.(232-234)acG>acT p.T78T LUAD 3 196229919 196229919 + Silent SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 g.chr3:196229919C>A c.126G>T c.(124-126)tcG>tcT p.S42S LUSC 3 196198983 196198983 + Missense_Mutation SNP G G C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr3:196198983G>C c.1423C>G c.(1423-1425)Cac>Gac p.H475D LUSC 3 196199439 196199439 + Missense_Mutation SNP T T C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr3:196199439T>C c.967A>G c.(967-969)Aaa>Gaa p.K323E LUSC 3 196229779 196229779 + Missense_Mutation SNP T T C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 g.chr3:196229779T>C c.266A>G c.(265-267)aAg>aGg p.K89R PAAD 3 196214338 196214338 + Frame_Shift_Del DEL T T - TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr3:196214338delT c.490delA c.(490-492)aggfs p.R166fs PAAD 3 196214338 196214338 + Frame_Shift_Del DEL T T - TCGA-S4-A8RO-01A-12D-A377-08 TCGA-S4-A8RO-10A-01D-A37A-08 g.chr3:196214338delT c.490delA c.(490-492)aggfs p.R166fs PAAD 3 196214353 196214353 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 g.chr3:196214353delT c.475delA c.(475-477)agafs p.R159fs PAAD 3 196214437 196214437 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:196214437G>A c.391C>T c.(391-393)Cga>Tga p.R131* PCPG 3 196199525 196199525 + Missense_Mutation SNP A A G TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 g.chr3:196199525A>G c.881T>C c.(880-882)aTa>aCa p.I294T READ 3 196199068 196199068 + Missense_Mutation SNP G G C TCGA-AG-3887-01A-01W-1073-09 TCGA-AG-3887-10A-01W-1073-09 g.chr3:196199068G>C c.1338C>G c.(1336-1338)gaC>gaG p.D446E READ 3 196214300 196214300 + Missense_Mutation SNP C C A TCGA-AG-A00H-01A-01W-A00E-09 TCGA-AG-A00H-10A-01W-A00E-09 g.chr3:196214300C>A c.528G>T c.(526-528)gaG>gaT p.E176D READ 3 196229996 196229996 + Missense_Mutation SNP C C T TCGA-DC-6158-01A-11D-1657-10 TCGA-DC-6158-10A-01D-1657-10 g.chr3:196229996C>T c.49G>A c.(49-51)Ggg>Agg p.G17R SKCM 3 196198710 196198710 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr3:196198710A>G c.1696T>C c.(1696-1698)Ttt>Ctt p.F566L SKCM 3 196198767 196198767 + Missense_Mutation SNP A A G TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr3:196198767A>G c.1639T>C c.(1639-1641)Tcc>Ccc p.S547P SKCM 3 196199271 196199271 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr3:196199271G>A c.1135C>T c.(1135-1137)Cta>Tta p.L379L SKCM 3 196199272 196199272 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr3:196199272G>A c.1134C>T c.(1132-1134)tgC>tgT p.C378C SKCM 3 196199338 196199338 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr3:196199338G>A c.1068C>T c.(1066-1068)gcC>gcT p.A356A SKCM 3 196214354 196214354 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:196214354T>G c.474A>C c.(472-474)aaA>aaC p.K158N SKCM 3 196215503 196215503 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr3:196215503C>T c.353G>A c.(352-354)aGa>aAa p.R118K SKCM 3 196215511 196215511 + Silent SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr3:196215511T>C c.345A>G c.(343-345)gaA>gaG p.E115E

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 3 196199352 196199352 single base substitution C G 3_prime_UTR_variant BLCA-CN 3 196199352 196199352 single base substitution C G missense_variant E352Q 1054G>C BLCA-CN 3 196202128 196202128 single base substitution C G 3_prime_UTR_variant BLCA-CN 3 196202128 196202128 single base substitution C G missense_variant E246Q 736G>C BLCA-US 3 196198864 196198864 single base substitution T A 3_prime_UTR_variant BLCA-US 3 196198864 196198864 single base substitution T A synonymous_variant S514S 1542A>T BLCA-US 3 196199034 196199034 single base substitution C T 3_prime_UTR_variant BLCA-US 3 196199034 196199034 single base substitution C T missense_variant D458N 1372G>A BLCA-US 3 196199142 196199142 single base substitution C T 3_prime_UTR_variant BLCA-US 3 196199142 196199142 single base substitution C T missense_variant E422K 1264G>A BLCA-US 3 196214289 196214289 single base substitution C G 3_prime_UTR_variant BLCA-US 3 196214289 196214289 single base substitution C G missense_variant R180T 539G>C BLCA-US 3 196234952 196234952 single base substitution C T upstream_gene_variant BLCA-US 3 196235134 196235134 single base substitution C T upstream_gene_variant BRCA-EU 3 196190692 196190692 single base substitution G A downstream_gene_variant BRCA-EU 3 196190985 196190985 single base substitution A C downstream_gene_variant BRCA-EU 3 196191901 196191901 single base substitution G C downstream_gene_variant BRCA-EU 3 196192130 196192130 single base substitution G A downstream_gene_variant BRCA-EU 3 196192302 196192302 single base substitution G C downstream_gene_variant BRCA-EU 3 196194106 196194106 single base substitution T G downstream_gene_variant BRCA-EU 3 196194132 196194132 single base substitution C T downstream_gene_variant BRCA-EU 3 196194955 196194955 single base substitution C G downstream_gene_variant BRCA-EU 3 196195248 196195248 single base substitution A G downstream_gene_variant BRCA-EU 3 196197491 196197491 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 196197491 196197491 single base substitution C A downstream_gene_variant BRCA-EU 3 196198481 196198481 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 196198481 196198481 single base substitution G C downstream_gene_variant BRCA-EU 3 196198705 196198705 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 196198705 196198705 single base substitution C G missense_variant Q567H 1701G>C BRCA-EU 3 196201435 196201435 single base substitution C G intron_variant BRCA-EU 3 196201686 196201686 single base substitution A G intron_variant BRCA-EU 3 196203884 196203884 single base substitution G T intron_variant BRCA-EU 3 196204969 196204969 single base substitution G A intron_variant BRCA-EU 3 196207426 196207426 single base substitution G A intron_variant BRCA-EU 3 196210124 196210124 single base substitution G A intron_variant BRCA-EU 3 196211180 196211180 single base substitution C A intron_variant BRCA-EU 3 196213014 196213014 single base substitution T G intron_variant BRCA-EU 3 196213930 196213930 single base substitution A C intron_variant BRCA-EU 3 196215319 196215319 single base substitution C T intron_variant BRCA-EU 3 196216769 196216769 single base substitution G T intron_variant BRCA-EU 3 196216928 196216973 deletion of <=200bp CATCACCAATACCCTTCCACATACACAGAGCTTTTCTCCTGGGCCT - intron_variant BRCA-EU 3 196218149 196218149 single base substitution A T intron_variant BRCA-EU 3 196218583 196218583 single base substitution G C intron_variant BRCA-EU 3 196219271 196219271 single base substitution G C intron_variant BRCA-EU 3 196219549 196219549 single base substitution T C intron_variant BRCA-EU 3 196221009 196221009 single base substitution G A intron_variant BRCA-EU 3 196221694 196221694 single base substitution G A intron_variant BRCA-EU 3 196221881 196221881 single base substitution G C intron_variant BRCA-EU 3 196223536 196223536 single base substitution T A intron_variant BRCA-EU 3 196224125 196224125 single base substitution T A intron_variant BRCA-EU 3 196225341 196225341 single base substitution C T intron_variant BRCA-EU 3 196225863 196225863 single base substitution C G intron_variant BRCA-EU 3 196226736 196226736 single base substitution G A intron_variant BRCA-EU 3 196228187 196228187 deletion of <=200bp A - intron_variant BRCA-EU 3 196229322 196229322 single base substitution G A intron_variant BRCA-EU 3 196229869 196229869 single base substitution G A exon_variant BRCA-EU 3 196229869 196229869 single base substitution G A missense_variant S59L 176C>T BRCA-EU 3 196231114 196231114 single base substitution G A upstream_gene_variant BRCA-EU 3 196231375 196231375 single base substitution G A upstream_gene_variant BRCA-EU 3 196232748 196232748 single base substitution A G upstream_gene_variant BRCA-EU 3 196232839 196232839 single base substitution C A upstream_gene_variant BRCA-EU 3 196233838 196233838 single base substitution G C upstream_gene_variant BRCA-EU 3 196234788 196234788 single base substitution G A upstream_gene_variant BRCA-EU 3 196234966 196234966 single base substitution C T upstream_gene_variant BRCA-EU 3 196235338 196235338 single base substitution G C upstream_gene_variant BRCA-EU 3 196235372 196235372 deletion of <=200bp T - upstream_gene_variant BRCA-FR 3 196191901 196191901 single base substitution G C downstream_gene_variant BRCA-FR 3 196194955 196194955 single base substitution C G downstream_gene_variant BRCA-FR 3 196207724 196207724 single base substitution C T intron_variant BRCA-FR 3 196212519 196212519 single base substitution C A intron_variant BRCA-FR 3 196215119 196215119 single base substitution G A intron_variant BRCA-FR 3 196218553 196218553 single base substitution C A intron_variant BRCA-FR 3 196230252 196230252 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 3 196232839 196232839 single base substitution C A upstream_gene_variant BRCA-FR 3 196234788 196234788 single base substitution G A upstream_gene_variant BRCA-US 3 196199119 196199119 single base substitution C T 3_prime_UTR_variant BRCA-US 3 196199119 196199119 single base substitution C T synonymous_variant L429L 1287G>A BRCA-US 3 196199186 196199186 single base substitution C G 3_prime_UTR_variant BRCA-US 3 196199186 196199186 single base substitution C G missense_variant R407T 1220G>C BRCA-US 3 196199266 196199266 single base substitution C T 3_prime_UTR_variant BRCA-US 3 196199266 196199266 single base substitution C T synonymous_variant L380L 1140G>A BRCA-US 3 196199594 196199594 single base substitution A G 3_prime_UTR_variant BRCA-US 3 196199594 196199594 single base substitution A G missense_variant I271T 812T>C BRCA-US 3 196210659 196210662 deletion of <=200bp TTTC - 3_prime_UTR_variant BRCA-US 3 196210659 196210662 deletion of <=200bp TTTC - frameshift_variant RN220 BRCA-US 3 196234827 196234827 single base substitution C A upstream_gene_variant BRCA-US 3 196234917 196234917 single base substitution G A upstream_gene_variant BRCA-US 3 196234930 196234930 single base substitution C T upstream_gene_variant BTCA-JP 3 196199232 196199232 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 196199232 196199232 single base substitution C T missense_variant E392K 1174G>A BTCA-JP 3 196202171 196202171 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 196202171 196202171 single base substitution C T synonymous_variant P231P 693G>A BTCA-JP 3 196215452 196215452 deletion of <=200bp A - intron_variant BTCA-JP 3 196235112 196235112 single base substitution G T upstream_gene_variant CESC-US 3 196198875 196198875 single base substitution C G 3_prime_UTR_variant CESC-US 3 196198875 196198875 single base substitution C G missense_variant E511Q 1531G>C CESC-US 3 196210737 196210737 single base substitution G A 3_prime_UTR_variant CESC-US 3 196210737 196210737 single base substitution G A missense_variant S195L 584C>T COAD-US 3 196199468 196199468 single base substitution T C 3_prime_UTR_variant COAD-US 3 196199468 196199468 single base substitution T C missense_variant N313S 938A>G COAD-US 3 196210691 196210691 single base substitution C T 3_prime_UTR_variant COAD-US 3 196210691 196210691 single base substitution C T synonymous_variant K210K 630G>A COAD-US 3 196214327 196214327 single base substitution C T 3_prime_UTR_variant COAD-US 3 196214327 196214327 single base substitution C T synonymous_variant A167A 501G>A COAD-US 3 196215533 196215533 single base substitution C T intron_variant COAD-US 3 196215533 196215533 single base substitution C T missense_variant R108H 323G>A COAD-US 3 196235001 196235001 single base substitution T C upstream_gene_variant COCA-CN 3 196199251 196199251 single base substitution A C 3_prime_UTR_variant COCA-CN 3 196199251 196199251 single base substitution A C missense_variant I385M 1155T>G COCA-CN 3 196199545 196199545 single base substitution T C 3_prime_UTR_variant COCA-CN 3 196199545 196199545 single base substitution T C synonymous_variant E287E 861A>G COCA-CN 3 196210816 196210816 single base substitution A C intron_variant EOPC-DE 3 196196957 196196957 single base substitution T A 3_prime_UTR_variant EOPC-DE 3 196196957 196196957 single base substitution T A downstream_gene_variant EOPC-DE 3 196206968 196206968 single base substitution C T intron_variant ESAD-UK 3 196190759 196190759 single base substitution A G downstream_gene_variant ESAD-UK 3 196191874 196191874 single base substitution T G downstream_gene_variant ESAD-UK 3 196193482 196193482 single base substitution C T downstream_gene_variant ESAD-UK 3 196194434 196194434 deletion of <=200bp T - downstream_gene_variant ESAD-UK 3 196195456 196195456 single base substitution G T downstream_gene_variant ESAD-UK 3 196197630 196197630 single base substitution C A 3_prime_UTR_variant ESAD-UK 3 196197630 196197630 single base substitution C A downstream_gene_variant ESAD-UK 3 196198425 196198425 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 196198425 196198425 single base substitution G A downstream_gene_variant ESAD-UK 3 196199581 196199581 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 196199581 196199581 single base substitution C T synonymous_variant P275P 825G>A ESAD-UK 3 196201452 196201452 single base substitution G A intron_variant ESAD-UK 3 196202906 196202906 single base substitution T G intron_variant ESAD-UK 3 196204479 196204479 single base substitution G A intron_variant ESAD-UK 3 196206009 196206009 single base substitution G A intron_variant ESAD-UK 3 196206652 196206652 single base substitution G A intron_variant ESAD-UK 3 196211191 196211191 single base substitution C T intron_variant ESAD-UK 3 196211666 196211666 single base substitution G A intron_variant ESAD-UK 3 196212926 196212926 single base substitution G C intron_variant ESAD-UK 3 196216477 196216477 single base substitution C T intron_variant ESAD-UK 3 196217481 196217481 single base substitution A G intron_variant ESAD-UK 3 196219874 196219874 single base substitution G A intron_variant ESAD-UK 3 196222986 196222986 single base substitution T A intron_variant ESAD-UK 3 196224125 196224125 single base substitution T A intron_variant ESAD-UK 3 196228290 196228290 single base substitution C G intron_variant ESAD-UK 3 196229145 196229145 single base substitution T C intron_variant ESAD-UK 3 196229196 196229196 single base substitution G A intron_variant ESAD-UK 3 196229846 196229846 single base substitution G C exon_variant ESAD-UK 3 196229846 196229846 single base substitution G C missense_variant R67G 199C>G ESAD-UK 3 196232042 196232042 single base substitution C T upstream_gene_variant ESAD-UK 3 196232601 196232601 single base substitution C A upstream_gene_variant ESAD-UK 3 196233012 196233012 single base substitution G A upstream_gene_variant ESCA-CN 3 196199186 196199186 single base substitution C G 3_prime_UTR_variant ESCA-CN 3 196199186 196199186 single base substitution C G missense_variant R407T 1220G>C ESCA-CN 3 196215451 196215451 insertion of <=200bp - A intron_variant GBM-US 3 196199643 196199643 single base substitution C T missense_variant D255N 763G>A GBM-US 3 196199643 196199643 single base substitution C T splice_region_variant GBM-US 3 196214417 196214417 single base substitution T G exon_variant GBM-US 3 196214417 196214417 single base substitution T G missense_variant E137D 411A>C GBM-US 3 196229875 196229876 deletion of <=200bp CG - exon_variant GBM-US 3 196229875 196229876 deletion of <=200bp CG - frameshift_variant R57 GBM-US 3 196230195 196230195 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant KIRP-US 3 196214285 196214285 insertion of <=200bp - T 3_prime_UTR_variant KIRP-US 3 196214285 196214285 insertion of <=200bp - T frameshift_variant K181K? KIRP-US 3 196214405 196214405 single base substitution G T exon_variant KIRP-US 3 196214405 196214405 single base substitution G T synonymous_variant A141A 423C>A LAML-KR 3 196193308 196193308 single base substitution G C downstream_gene_variant LAML-KR 3 196197527 196197527 single base substitution T C 3_prime_UTR_variant LAML-KR 3 196197527 196197527 single base substitution T C downstream_gene_variant LGG-US 3 196229803 196229803 single base substitution T C exon_variant LGG-US 3 196229803 196229803 single base substitution T C missense_variant Q81R 242A>G LICA-CN 3 196210697 196210697 single base substitution T G 3_prime_UTR_variant LICA-CN 3 196210697 196210697 single base substitution T G synonymous_variant T208T 624A>C LICA-FR 3 196199486 196199486 single base substitution T G 3_prime_UTR_variant LICA-FR 3 196199486 196199486 single base substitution T G missense_variant E307A 920A>C LICA-FR 3 196200996 196200996 deletion of <=200bp T - intron_variant LICA-FR 3 196215720 196215720 single base substitution T C intron_variant LICA-FR 3 196219699 196219699 single base substitution T A intron_variant LICA-FR 3 196227694 196227694 single base substitution G T intron_variant LIHC-US 3 196199329 196199329 single base substitution T C 3_prime_UTR_variant LIHC-US 3 196199329 196199329 single base substitution T C synonymous_variant S359S 1077A>G LIHC-US 3 196229935 196229935 single base substitution T C exon_variant LIHC-US 3 196229935 196229935 single base substitution T C missense_variant K37R 110A>G LINC-JP 3 196198953 196198953 single base substitution T C 3_prime_UTR_variant LINC-JP 3 196198953 196198953 single base substitution T C missense_variant K485E 1453A>G LINC-JP 3 196200709 196200709 insertion of <=200bp - A intron_variant LINC-JP 3 196205430 196205430 single base substitution A T intron_variant LINC-JP 3 196216510 196216510 single base substitution T A intron_variant LINC-JP 3 196221495 196221498 deletion of <=200bp AGAT - intron_variant LIRI-JP 3 196193521 196193521 single base substitution A G downstream_gene_variant LIRI-JP 3 196193689 196193689 single base substitution T C downstream_gene_variant LIRI-JP 3 196195591 196195591 single base substitution T C downstream_gene_variant LIRI-JP 3 196196121 196196121 single base substitution C A 3_prime_UTR_variant LIRI-JP 3 196196121 196196121 single base substitution C A downstream_gene_variant LIRI-JP 3 196199006 196199006 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 196199006 196199006 single base substitution T C missense_variant Q467R 1400A>G LIRI-JP 3 196199991 196199991 single base substitution A T intron_variant LIRI-JP 3 196200509 196200509 single base substitution T A intron_variant LIRI-JP 3 196206755 196206755 single base substitution G A intron_variant LIRI-JP 3 196207202 196207202 single base substitution G T intron_variant LIRI-JP 3 196207455 196207455 single base substitution G T intron_variant LIRI-JP 3 196208999 196208999 single base substitution C T intron_variant LIRI-JP 3 196212532 196212532 single base substitution A G intron_variant LIRI-JP 3 196213770 196213770 single base substitution T C intron_variant LIRI-JP 3 196216906 196216906 deletion of <=200bp C - intron_variant LIRI-JP 3 196217161 196217161 single base substitution T C intron_variant LIRI-JP 3 196221982 196221982 single base substitution T G intron_variant LIRI-JP 3 196225096 196225096 single base substitution T G intron_variant LIRI-JP 3 196226016 196226016 single base substitution T G intron_variant LIRI-JP 3 196227235 196227235 single base substitution C A intron_variant LIRI-JP 3 196228495 196228495 single base substitution T A intron_variant LIRI-JP 3 196229805 196229805 deletion of <=200bp A - exon_variant LIRI-JP 3 196229805 196229805 deletion of <=200bp A - frameshift_variant I80 LIRI-JP 3 196234614 196234614 single base substitution A G upstream_gene_variant LIRI-JP 3 196235038 196235038 single base substitution C T upstream_gene_variant LUSC-KR 3 196192510 196192510 single base substitution C G downstream_gene_variant LUSC-KR 3 196193038 196193038 single base substitution C T downstream_gene_variant LUSC-KR 3 196193304 196193304 single base substitution A G downstream_gene_variant LUSC-KR 3 196196975 196196975 single base substitution A G 3_prime_UTR_variant LUSC-KR 3 196196975 196196975 single base substitution A G downstream_gene_variant LUSC-KR 3 196198679 196198679 single base substitution T A 3_prime_UTR_variant LUSC-KR 3 196198936 196198936 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 196198936 196198936 single base substitution C T synonymous_variant Q490Q 1470G>A LUSC-KR 3 196199058 196199058 single base substitution C G 3_prime_UTR_variant LUSC-KR 3 196199058 196199058 single base substitution C G missense_variant A450P 1348G>C LUSC-KR 3 196200497 196200497 single base substitution G A intron_variant LUSC-KR 3 196210413 196210413 single base substitution C G intron_variant LUSC-KR 3 196211060 196211060 single base substitution G T intron_variant LUSC-KR 3 196215747 196215747 single base substitution G C intron_variant LUSC-KR 3 196220553 196220553 single base substitution C A intron_variant LUSC-KR 3 196222213 196222213 single base substitution C G intron_variant LUSC-KR 3 196222832 196222832 single base substitution G C intron_variant LUSC-KR 3 196223632 196223632 single base substitution C T intron_variant LUSC-KR 3 196223682 196223682 single base substitution C A intron_variant LUSC-KR 3 196223781 196223781 single base substitution C A intron_variant LUSC-KR 3 196225839 196225839 single base substitution C A intron_variant LUSC-KR 3 196227117 196227117 single base substitution A G intron_variant LUSC-KR 3 196229717 196229717 single base substitution C G intron_variant LUSC-KR 3 196230564 196230564 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 3 196230564 196230564 single base substitution G C upstream_gene_variant LUSC-KR 3 196235021 196235021 single base substitution C T upstream_gene_variant LUSC-US 3 196198983 196198983 single base substitution G C 3_prime_UTR_variant LUSC-US 3 196198983 196198983 single base substitution G C missense_variant H475D 1423C>G LUSC-US 3 196199439 196199439 single base substitution T C 3_prime_UTR_variant LUSC-US 3 196199439 196199439 single base substitution T C missense_variant K323E 967A>G LUSC-US 3 196229779 196229779 single base substitution T C exon_variant LUSC-US 3 196229779 196229779 single base substitution T C missense_variant K89R 266A>G MALY-DE 3 196191023 196191023 single base substitution T G downstream_gene_variant MALY-DE 3 196191823 196191823 single base substitution A C downstream_gene_variant MALY-DE 3 196201213 196201213 single base substitution G A intron_variant MALY-DE 3 196204681 196204681 single base substitution G A intron_variant MALY-DE 3 196227909 196227909 single base substitution G A intron_variant MALY-DE 3 196229301 196229301 single base substitution A G intron_variant MELA-AU 3 196191092 196191092 single base substitution G A downstream_gene_variant MELA-AU 3 196191387 196191387 single base substitution G A downstream_gene_variant MELA-AU 3 196191474 196191474 single base substitution G A downstream_gene_variant MELA-AU 3 196192384 196192384 single base substitution G A downstream_gene_variant MELA-AU 3 196194685 196194685 single base substitution G A downstream_gene_variant MELA-AU 3 196194719 196194719 single base substitution C T downstream_gene_variant MELA-AU 3 196194942 196194942 single base substitution C T downstream_gene_variant MELA-AU 3 196195400 196195400 single base substitution G A downstream_gene_variant MELA-AU 3 196196049 196196049 single base substitution T C 3_prime_UTR_variant MELA-AU 3 196196049 196196049 single base substitution T C downstream_gene_variant MELA-AU 3 196197096 196197096 single base substitution C T 3_prime_UTR_variant MELA-AU 3 196197096 196197096 single base substitution C T downstream_gene_variant MELA-AU 3 196198262 196198262 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196198262 196198262 single base substitution G A downstream_gene_variant MELA-AU 3 196199248 196199249 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 196199248 196199249 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S386F 1157CC>TT MELA-AU 3 196199717 196199717 single base substitution G A intron_variant MELA-AU 3 196200168 196200168 deletion of <=200bp A - intron_variant MELA-AU 3 196201368 196201368 single base substitution G A intron_variant MELA-AU 3 196201412 196201413 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 196201720 196201720 single base substitution G A intron_variant MELA-AU 3 196201964 196201964 single base substitution A G intron_variant MELA-AU 3 196202038 196202038 single base substitution G A intron_variant MELA-AU 3 196202794 196202794 single base substitution G A intron_variant MELA-AU 3 196203137 196203137 single base substitution G A intron_variant MELA-AU 3 196203712 196203712 single base substitution G A intron_variant MELA-AU 3 196204678 196204678 single base substitution G A intron_variant MELA-AU 3 196205681 196205681 single base substitution G A intron_variant MELA-AU 3 196206875 196206875 single base substitution G A intron_variant MELA-AU 3 196207402 196207402 single base substitution T C intron_variant MELA-AU 3 196207507 196207507 single base substitution C T intron_variant MELA-AU 3 196208130 196208131 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 196208215 196208215 single base substitution G A intron_variant MELA-AU 3 196209233 196209233 single base substitution G A intron_variant MELA-AU 3 196209336 196209336 single base substitution G A intron_variant MELA-AU 3 196210233 196210233 single base substitution G A intron_variant MELA-AU 3 196210292 196210292 single base substitution A G intron_variant MELA-AU 3 196210352 196210352 single base substitution C T intron_variant MELA-AU 3 196210365 196210365 single base substitution A G intron_variant MELA-AU 3 196210729 196210729 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196210729 196210729 single base substitution G A missense_variant P198S 592C>T MELA-AU 3 196210732 196210732 single base substitution A C 3_prime_UTR_variant MELA-AU 3 196210732 196210732 single base substitution A C missense_variant S197A 589T>G MELA-AU 3 196211030 196211030 single base substitution G A intron_variant MELA-AU 3 196212851 196212851 single base substitution G A intron_variant MELA-AU 3 196212914 196212914 single base substitution A C intron_variant MELA-AU 3 196214176 196214176 single base substitution G A intron_variant MELA-AU 3 196214233 196214233 single base substitution G A intron_variant MELA-AU 3 196215604 196215604 single base substitution G A intron_variant MELA-AU 3 196215605 196215605 single base substitution G A intron_variant MELA-AU 3 196215629 196215629 single base substitution G A intron_variant MELA-AU 3 196216019 196216019 single base substitution G A intron_variant MELA-AU 3 196217212 196217212 single base substitution G A intron_variant MELA-AU 3 196217274 196217274 single base substitution G A intron_variant MELA-AU 3 196217699 196217699 single base substitution G A intron_variant MELA-AU 3 196217827 196217827 single base substitution G A intron_variant MELA-AU 3 196218167 196218167 single base substitution G A intron_variant MELA-AU 3 196218171 196218171 single base substitution G A intron_variant MELA-AU 3 196218280 196218280 single base substitution G A intron_variant MELA-AU 3 196218503 196218503 single base substitution G A intron_variant MELA-AU 3 196219841 196219841 single base substitution G A intron_variant MELA-AU 3 196219987 196219987 single base substitution G A intron_variant MELA-AU 3 196220531 196220532 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 3 196220584 196220584 single base substitution G A intron_variant MELA-AU 3 196220870 196220870 single base substitution C T intron_variant MELA-AU 3 196220937 196220937 single base substitution C T intron_variant MELA-AU 3 196220958 196220958 single base substitution G A intron_variant MELA-AU 3 196221805 196221805 single base substitution G A intron_variant MELA-AU 3 196223583 196223583 single base substitution A T intron_variant MELA-AU 3 196224125 196224125 single base substitution T A intron_variant MELA-AU 3 196224303 196224303 single base substitution G A intron_variant MELA-AU 3 196224517 196224517 single base substitution G A intron_variant MELA-AU 3 196224525 196224525 single base substitution G A intron_variant MELA-AU 3 196224688 196224688 single base substitution C T intron_variant MELA-AU 3 196224780 196224780 single base substitution G A intron_variant MELA-AU 3 196224833 196224833 single base substitution G A intron_variant MELA-AU 3 196225053 196225053 single base substitution G A intron_variant MELA-AU 3 196225137 196225137 single base substitution T C intron_variant MELA-AU 3 196226047 196226047 single base substitution A T intron_variant MELA-AU 3 196226159 196226159 single base substitution A C intron_variant MELA-AU 3 196226821 196226821 single base substitution T C intron_variant MELA-AU 3 196227057 196227057 single base substitution G A intron_variant MELA-AU 3 196228116 196228116 single base substitution G A intron_variant MELA-AU 3 196228165 196228165 single base substitution G A intron_variant MELA-AU 3 196228525 196228525 single base substitution T A intron_variant MELA-AU 3 196229924 196229924 single base substitution G A exon_variant MELA-AU 3 196229924 196229924 single base substitution G A stop_gained Q41* 121C>T MELA-AU 3 196230029 196230029 single base substitution C T exon_variant MELA-AU 3 196230029 196230029 single base substitution C T missense_variant D6N 16G>A MELA-AU 3 196230709 196230709 single base substitution C T upstream_gene_variant MELA-AU 3 196230719 196230719 single base substitution G A upstream_gene_variant MELA-AU 3 196230722 196230722 single base substitution T C upstream_gene_variant MELA-AU 3 196230724 196230724 single base substitution C T upstream_gene_variant MELA-AU 3 196231803 196231803 single base substitution C T upstream_gene_variant MELA-AU 3 196231954 196231954 single base substitution C T upstream_gene_variant MELA-AU 3 196232296 196232296 single base substitution C T upstream_gene_variant MELA-AU 3 196232449 196232449 single base substitution T G upstream_gene_variant MELA-AU 3 196232514 196232514 single base substitution C T upstream_gene_variant MELA-AU 3 196232901 196232901 single base substitution A C upstream_gene_variant MELA-AU 3 196232916 196232916 single base substitution G A upstream_gene_variant MELA-AU 3 196233118 196233118 single base substitution C A upstream_gene_variant MELA-AU 3 196233288 196233288 single base substitution G A upstream_gene_variant MELA-AU 3 196233574 196233574 single base substitution T A upstream_gene_variant MELA-AU 3 196234154 196234154 single base substitution C T upstream_gene_variant MELA-AU 3 196234913 196234913 single base substitution C T upstream_gene_variant ORCA-IN 3 196212121 196212121 single base substitution G C intron_variant ORCA-IN 3 196212279 196212279 single base substitution G A intron_variant ORCA-IN 3 196214445 196214445 single base substitution G A exon_variant ORCA-IN 3 196214445 196214445 single base substitution G A missense_variant A128V 383C>T OV-AU 3 196192071 196192071 single base substitution C G downstream_gene_variant OV-AU 3 196193061 196193061 single base substitution C T downstream_gene_variant OV-AU 3 196197787 196197787 single base substitution G A 3_prime_UTR_variant OV-AU 3 196197787 196197787 single base substitution G A downstream_gene_variant OV-AU 3 196201802 196201802 single base substitution T C intron_variant OV-AU 3 196211413 196211413 single base substitution A T intron_variant OV-AU 3 196213190 196213190 single base substitution T C intron_variant OV-AU 3 196227646 196227646 single base substitution G C intron_variant OV-AU 3 196228756 196228756 single base substitution C T intron_variant OV-AU 3 196230105 196230105 single base substitution C T 5_prime_UTR_variant OV-AU 3 196230270 196230270 single base substitution C G 5_prime_UTR_variant PACA-AU 3 196191875 196191875 single base substitution T G downstream_gene_variant PACA-AU 3 196194495 196194495 single base substitution G A downstream_gene_variant PACA-AU 3 196196102 196196102 single base substitution G A 3_prime_UTR_variant PACA-AU 3 196196102 196196102 single base substitution G A downstream_gene_variant PACA-AU 3 196200585 196200585 single base substitution G A intron_variant PACA-AU 3 196201038 196201038 single base substitution A G intron_variant PACA-AU 3 196201039 196201039 single base substitution T C intron_variant PACA-AU 3 196204956 196204956 single base substitution A G intron_variant PACA-AU 3 196210126 196210126 single base substitution C G intron_variant PACA-AU 3 196210936 196210936 single base substitution T C intron_variant PACA-AU 3 196212673 196212673 single base substitution A G intron_variant PACA-AU 3 196217772 196217772 insertion of <=200bp - TAAT intron_variant PACA-AU 3 196219015 196219015 single base substitution G A intron_variant PACA-AU 3 196219600 196219600 single base substitution G T intron_variant PACA-AU 3 196223287 196223287 insertion of <=200bp - T intron_variant PACA-AU 3 196224706 196224706 single base substitution T C intron_variant PACA-AU 3 196225267 196225267 single base substitution A C intron_variant PACA-AU 3 196225366 196225366 single base substitution A C intron_variant PACA-AU 3 196226377 196226377 insertion of <=200bp - A intron_variant PACA-AU 3 196227222 196227222 single base substitution C T intron_variant PACA-AU 3 196229832 196229833 deletion of <=200bp GA - exon_variant PACA-AU 3 196229832 196229833 deletion of <=200bp GA - frameshift_variant L71 PACA-AU 3 196234493 196234493 deletion of <=200bp T - upstream_gene_variant PACA-CA 3 196194730 196194730 insertion of <=200bp - T downstream_gene_variant PACA-CA 3 196195644 196195644 single base substitution T C downstream_gene_variant PACA-CA 3 196196111 196196111 single base substitution C A 3_prime_UTR_variant PACA-CA 3 196196111 196196111 single base substitution C A downstream_gene_variant PACA-CA 3 196200484 196200484 single base substitution C T intron_variant PACA-CA 3 196205487 196205487 single base substitution T A intron_variant PACA-CA 3 196205660 196205660 single base substitution C A intron_variant PACA-CA 3 196209685 196209685 single base substitution G A intron_variant PACA-CA 3 196210277 196210277 single base substitution T G intron_variant PACA-CA 3 196211198 196211198 single base substitution A C intron_variant PACA-CA 3 196216779 196216779 single base substitution G A intron_variant PACA-CA 3 196217550 196217550 single base substitution G T intron_variant PACA-CA 3 196221722 196221722 single base substitution T C intron_variant PACA-CA 3 196225349 196225349 single base substitution C T intron_variant PACA-CA 3 196226689 196226689 single base substitution A C intron_variant PACA-CA 3 196233158 196233158 single base substitution G A upstream_gene_variant PACA-CA 3 196234725 196234725 single base substitution G C upstream_gene_variant PACA-CA 3 196235354 196235354 single base substitution T C upstream_gene_variant PAEN-AU 3 196200841 196200841 single base substitution T C intron_variant PAEN-IT 3 196212443 196212443 single base substitution C G intron_variant PAEN-IT 3 196224319 196224319 single base substitution G A intron_variant PBCA-DE 3 196199942 196199942 single base substitution C T intron_variant PBCA-DE 3 196216880 196216880 single base substitution G A intron_variant PRAD-CA 3 196218736 196218736 single base substitution G C intron_variant PRAD-CA 3 196235348 196235348 single base substitution T A upstream_gene_variant PRAD-CA 3 196235349 196235349 single base substitution C A upstream_gene_variant PRAD-UK 3 196200255 196200255 single base substitution G A intron_variant PRAD-UK 3 196220893 196220893 single base substitution T G intron_variant RECA-EU 3 196198943 196198943 single base substitution T G 3_prime_UTR_variant RECA-EU 3 196198943 196198943 single base substitution T G missense_variant N488T 1463A>C RECA-EU 3 196202316 196202316 single base substitution G T intron_variant RECA-EU 3 196202367 196202367 single base substitution T A intron_variant RECA-EU 3 196212467 196212467 single base substitution A G intron_variant RECA-EU 3 196213998 196213998 single base substitution A C intron_variant RECA-EU 3 196218795 196218795 single base substitution C A intron_variant RECA-EU 3 196219068 196219068 single base substitution C A intron_variant RECA-EU 3 196221966 196221966 single base substitution G A intron_variant RECA-EU 3 196227454 196227454 single base substitution G T intron_variant RECA-EU 3 196234811 196234811 single base substitution G A upstream_gene_variant SKCA-BR 3 196192617 196192619 deletion of <=200bp CTT - downstream_gene_variant SKCA-BR 3 196192870 196192870 single base substitution G A downstream_gene_variant SKCA-BR 3 196194684 196194684 single base substitution G A downstream_gene_variant SKCA-BR 3 196201162 196201163 deletion of <=200bp AT - intron_variant SKCA-BR 3 196202754 196202754 single base substitution G A intron_variant SKCA-BR 3 196208356 196208356 single base substitution G A intron_variant SKCA-BR 3 196211373 196211373 single base substitution G A intron_variant SKCA-BR 3 196213008 196213008 single base substitution C G intron_variant SKCA-BR 3 196213928 196213928 single base substitution A T intron_variant SKCA-BR 3 196219215 196219215 single base substitution A T intron_variant SKCA-BR 3 196219238 196219238 single base substitution G A intron_variant SKCA-BR 3 196220318 196220318 single base substitution T C intron_variant SKCA-BR 3 196222047 196222047 insertion of <=200bp - CGT intron_variant SKCA-BR 3 196222369 196222369 single base substitution C T intron_variant SKCA-BR 3 196224538 196224538 insertion of <=200bp - CA intron_variant SKCA-BR 3 196225163 196225163 single base substitution T G intron_variant SKCA-BR 3 196225264 196225264 single base substitution T C intron_variant SKCA-BR 3 196227370 196227370 single base substitution G A intron_variant SKCA-BR 3 196230791 196230791 single base substitution G T upstream_gene_variant SKCA-BR 3 196231891 196231891 single base substitution G A upstream_gene_variant SKCM-US 3 196198710 196198710 single base substitution A G 3_prime_UTR_variant SKCM-US 3 196198710 196198710 single base substitution A G missense_variant F566L 1696T>C SKCM-US 3 196198767 196198767 single base substitution A G 3_prime_UTR_variant SKCM-US 3 196198767 196198767 single base substitution A G missense_variant S547P 1639T>C SKCM-US 3 196199338 196199338 single base substitution G A 3_prime_UTR_variant SKCM-US 3 196199338 196199338 single base substitution G A synonymous_variant A356A 1068C>T SKCM-US 3 196214354 196214354 single base substitution T G 3_prime_UTR_variant SKCM-US 3 196214354 196214354 single base substitution T G missense_variant K158N 474A>C SKCM-US 3 196215503 196215503 single base substitution C T intron_variant SKCM-US 3 196215503 196215503 single base substitution C T missense_variant R118K 353G>A SKCM-US 3 196215511 196215511 single base substitution T C intron_variant SKCM-US 3 196215511 196215511 single base substitution T C synonymous_variant E115E 345A>G SKCM-US 3 196234890 196234890 single base substitution G A upstream_gene_variant SKCM-US 3 196234913 196234913 single base substitution C T upstream_gene_variant STAD-US 3 196198765 196198765 single base substitution G A 3_prime_UTR_variant STAD-US 3 196198765 196198765 single base substitution G A synonymous_variant S547S 1641C>T STAD-US 3 196199224 196199224 single base substitution G T 3_prime_UTR_variant STAD-US 3 196199224 196199224 single base substitution G T synonymous_variant S394S 1182C>A STAD-US 3 196199236 196199236 insertion of <=200bp - T 3_prime_UTR_variant STAD-US 3 196199236 196199236 insertion of <=200bp - T frameshift_variant N390N? STAD-US 3 196199237 196199237 insertion of <=200bp - T 3_prime_UTR_variant STAD-US 3 196199237 196199237 insertion of <=200bp - T frameshift_variant N390K? STAD-US 3 196199488 196199488 single base substitution G A 3_prime_UTR_variant STAD-US 3 196199488 196199488 single base substitution G A synonymous_variant A306A 918C>T STAD-US 3 196210722 196210722 single base substitution T C 3_prime_UTR_variant STAD-US 3 196210722 196210722 single base substitution T C missense_variant N200S 599A>G STAD-US 3 196214296 196214296 single base substitution G T 3_prime_UTR_variant STAD-US 3 196214296 196214296 single base substitution G T missense_variant L178M 532C>A STAD-US 3 196214348 196214351 deletion of <=200bp CTGT - 3_prime_UTR_variant STAD-US 3 196214348 196214351 deletion of <=200bp CTGT - frameshift_variant RQ159 STAD-US 3 196214416 196214416 single base substitution C A exon_variant STAD-US 3 196214416 196214416 single base substitution C A stop_gained E138* 412G>T STAD-US 3 196229935 196229935 single base substitution T C exon_variant STAD-US 3 196229935 196229935 single base substitution T C missense_variant K37R 110A>G STAD-US 3 196234867 196234867 single base substitution T A upstream_gene_variant STAD-US 3 196234879 196234879 single base substitution T G upstream_gene_variant STAD-US 3 196235165 196235165 single base substitution C T upstream_gene_variant THCA-SA 3 196230444 196230444 single base substitution G C 5_prime_UTR_variant THCA-US 3 196235046 196235046 single base substitution T C upstream_gene_variant UCEC-US 3 196198890 196198890 single base substitution T C 3_prime_UTR_variant UCEC-US 3 196198890 196198890 single base substitution T C missense_variant K506E 1516A>G UCEC-US 3 196199137 196199137 single base substitution T G 3_prime_UTR_variant UCEC-US 3 196199137 196199137 single base substitution T G synonymous_variant I423I 1269A>C UCEC-US 3 196202171 196202171 single base substitution C T 3_prime_UTR_variant UCEC-US 3 196202171 196202171 single base substitution C T synonymous_variant P231P 693G>A UCEC-US 3 196215477 196215477 single base substitution C T intron_variant UCEC-US 3 196215477 196215477 single base substitution C T splice_donor_variant UCEC-US 3 196229774 196229774 single base substitution T C exon_variant UCEC-US 3 196229774 196229774 single base substitution T C missense_variant R91G 271A>G UCEC-US 3 196234758 196234758 single base substitution T A upstream_gene_variant UCEC-US 3 196234998 196234998 single base substitution G A upstream_gene_variant UCEC-US 3 196235137 196235137 single base substitution G T upstream_gene_variant UCEC-US 3 196235177 196235177 single base substitution A C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-ER-A19F-06 COSM3591867 c.1068C>T p.A356A Substitution - coding silent 3:196472467-196472467 - T578 COSM1738851 c.584C>T p.S195L Substitution - Missense 3:196483866-196483866 - Pat_60_B COSM1723274 c.490delA p.R164fs*9 Deletion - Frameshift 3:196487467-196487467 - TCGA-32-1986-01 COSM3408550 c.411A>C p.E137D Substitution - Missense 3:196487546-196487546 - ESCC_BICR_045T COSM3847157 c.1220G>C p.R407T Substitution - Missense 3:196472315-196472315 - ccRCC-30 COSM1663937 c.272G>T p.R91I Substitution - Missense 3:196502902-196502902 - TCGA-DS-A0VK-01 COSM1294099 c.1531G>A p.E511K Substitution - Missense 3:196472004-196472004 - RK052_C01 COSM1633087 c.240delT p.Q81fs*36 Deletion - Frameshift 3:196502934-196502934 - HCC167T COSM3660443 c.1453A>G p.K485E Substitution - Missense 3:196472082-196472082 - 1 COSM4333157 c.170G>A p.R57Q Substitution - Missense 3:196503004-196503004 - TCGA-G4-6628-01 COSM1422003 c.501G>A p.A167A Substitution - coding silent 3:196487456-196487456 - LUAD-5V8LT COSM402422 c.950G>T p.R317I Substitution - Missense 3:196472585-196472585 - 3N50-VS-3T50 COSM4983113 c.176C>T p.S59L Substitution - Missense 3:196502998-196502998 - TCGA-CG-4442-01 COSM4116392 c.1182C>A p.S394S Substitution - coding silent 3:196472353-196472353 - OV207 COSM252783 c.500C>T p.A167V Substitution - Missense 3:196487457-196487457 - TCGA-G4-6588-01 COSM1422001 c.938A>G p.N313S Substitution - Missense 3:196472597-196472597 - T3152 COSM4722035 c.391C>T p.R131* Substitution - Nonsense 3:196487566-196487566 - TCGA-BH-A0B6-01 COSM3847156 c.1287G>A p.L429L Substitution - coding silent 3:196472248-196472248 - pfg122T COSM3718632 c.383C>T p.A128V Substitution - Missense 3:196487574-196487574 - TCGA-E9-A1RG-01 COSM1485045 c.812T>C p.I271T Substitution - Missense 3:196472723-196472723 - 234 COSM3731399 c.271_272insTA p.R91fs*27 Insertion - Frameshift 3:196502902-196502903 - TCGA-BH-A0B6-01 COSM3847158 c.1140G>A p.L380L Substitution - coding silent 3:196472395-196472395 - HCC167 COSM3660443 c.1453A>G p.K485E Substitution - Missense 3:196472082-196472082 - YUROG COSM5398958 c.294G>A p.E98E Substitution - coding silent 3:196502880-196502880 - B60-Tumor COSM1422002 c.736G>C p.E246Q Substitution - Missense 3:196475257-196475257 - 14T COSM3718632 c.383C>T p.A128V Substitution - Missense 3:196487574-196487574 - RKO COSM4648696 c.1507A>G p.T503A Substitution - Missense 3:196472028-196472028 - pfg008T COSM1642214 c.1284delA p.K428fs*2 Deletion - Frameshift 3:196472251-196472251 - TCGA-BG-A0MQ-01 COSM1043037 c.1516A>G p.K506E Substitution - Missense 3:196472019-196472019 - TCGA-BR-8680-01 COSM4116396 c.412G>T p.E138* Substitution - Nonsense 3:196487545-196487545 - LPJ108 COSM1316249 c.547A>C p.S183R Substitution - Missense 3:196487410-196487410 - TCGA-AA-3715-01 COSM270049 c.336A>C p.K112N Substitution - Missense 3:196488649-196488649 - S02292 COSM5687937 c.1186G>C p.E396Q Substitution - Missense 3:196472349-196472349 - T578 COSM4722032 c.1174G>T p.E392* Substitution - Nonsense 3:196472361-196472361 - OSCC-GB_00140111 COSM3718632 c.383C>T p.A128V Substitution - Missense 3:196487574-196487574 - B89-10-Tumor COSM1753120 c.1054G>C p.E352Q Substitution - Missense 3:196472481-196472481 - TCGA-66-2778-01 COSM730531 c.1423C>G p.H475D Substitution - Missense 3:196472112-196472112 - TCGA-A3-3380-01 COSM1495527 c.645T>A p.S215R Substitution - Missense 3:196483805-196483805 - TCGA-22-4593-01 COSM730528 c.266A>G p.K89R Substitution - Missense 3:196502908-196502908 - LP6005690-DNA_C02 COSM4412136 c.825G>A p.P275P Substitution - coding silent 3:196472710-196472710 - 587332 COSM1223932 c.274G>A p.A92T Substitution - Missense 3:196502900-196502900 - TCGA-06-0171-02 COSM2150309 c.763G>A p.D255N Substitution - Missense 3:196472772-196472772 - Pat_74_A COSM5864198 c.130G>A p.V44I Substitution - Missense 3:196503044-196503044 - TCGA-DC-6158-01 COSM1566842 c.49G>A p.G17R Substitution - Missense 3:196503125-196503125 - 19685 COSM5346263 c.1554T>A p.N518K Substitution - Missense 3:196471981-196471981 - TCGA-UB-A7MB-01 COSM4931006 c.1077A>G p.S359S Substitution - coding silent 3:196472458-196472458 - TCGA-BR-8361-01 COSM4116393 c.918C>T p.A306A Substitution - coding silent 3:196472617-196472617 - 40M COSM5586428 c.1528C>T p.P510S Substitution - Missense 3:196472007-196472007 - TCGA-BR-7851-01 COSM4116394 c.599A>G p.N200S Substitution - Missense 3:196483851-196483851 - TCGA-D9-A6EC-06 COSM4405535 c.474A>C p.K158N Substitution - Missense 3:196487483-196487483 - TCGA-D3-A3C7-06 COSM3591869 c.345A>G p.E115E Substitution - coding silent 3:196488640-196488640 - I2L-P10-Tumor-Organoid COSM5355137 c.753C>T p.S251S Substitution - coding silent 3:196475240-196475240 - Pat_41_B COSM5864197 c.644G>A p.S215N Substitution - Missense 3:196483806-196483806 - YUKLAB COSM1694029 c.1012C>T p.P338S Substitution - Missense 3:196472523-196472523 - TCGA-EE-A3JI-06 COSM3591865 c.1696T>C p.F566L Substitution - Missense 3:196471839-196471839 - Pat_22_B COSM1723274 c.490delA p.R164fs*9 Deletion - Frameshift 3:196487467-196487467 - Pat_53_A COSM1723274 c.490delA p.R164fs*9 Deletion - Frameshift 3:196487467-196487467 - CHC303T COSM4957902 c.920A>C p.E307A Substitution - Missense 3:196472615-196472615 - TCGA-AA-3492-01 COSM1422004 c.323G>A p.R108H Substitution - Missense 3:196488662-196488662 - ESCC_86 COSM4722035 c.391C>T p.R131* Substitution - Nonsense 3:196487566-196487566 - CSCC-31-T COSM4507657 c.752C>T p.S251F Substitution - Missense 3:196475241-196475241 - TCGA-EV-5902-01 COSM3992983 c.423C>A p.A141A Substitution - coding silent 3:196487534-196487534 - TCGA-06-0171 COSM2150309 c.763G>A p.D255N Substitution - Missense 3:196472772-196472772 - 35M COSM5582375 c.1097G>A p.G366E Substitution - Missense 3:196472438-196472438 - HCC022T COSM5817583 c.624A>C p.T208T Substitution - coding silent 3:196483826-196483826 - C0015T COSM4152393 c.1463A>C p.N488T Substitution - Missense 3:196472072-196472072 - MO_1192 COSM5548914 c.535G>A p.A179T Substitution - Missense 3:196487422-196487422 - QC2-25-T2 COSM1537342 c.234G>T p.T78T Substitution - coding silent 3:196502940-196502940 - Pat_53_B COSM5864196 c.1429C>T p.R477C Substitution - Missense 3:196472106-196472106 - TCGA-BT-A3PH-01 COSM1308985 c.1264G>A p.E422K Substitution - Missense 3:196472271-196472271 - LPJ108 COSM1316248 c.549C>G p.S183R Substitution - Missense 3:196487408-196487408 - PD23558a COSM5777613 c.1701G>C p.Q567H Substitution - Missense 3:196471834-196471834 - M022 COSM1738851 c.584C>T p.S195L Substitution - Missense 3:196483866-196483866 - CSCC-27-T COSM1694029 c.1012C>T p.P338S Substitution - Missense 3:196472523-196472523 - TCGA-AK-3447-01 COSM1495527 c.645T>A p.S215R Substitution - Missense 3:196483805-196483805 - TCGA-D3-A3MR-06 COSM3591868 c.353G>A p.R118K Substitution - Missense 3:196488632-196488632 - TCGA-AX-A05Z-01 COSM1043039 c.693G>A p.P231P Substitution - coding silent 3:196475300-196475300 - 546 COSM5612893 c.388G>A p.E130K Substitution - Missense 3:196487569-196487569 - TCGA-DK-A1AC-01 COSM1308986 c.539G>C p.R180T Substitution - Missense 3:196487418-196487418 - TCGA-F4-6461-01 COSM3695995 c.630G>A p.K210K Substitution - coding silent 3:196483820-196483820 - 2_RESISTANT COSM1723274 c.490delA p.R164fs*9 Deletion - Frameshift 3:196487467-196487467 - TCGA-DK-A3WW-01 COSM3774844 c.1372G>A p.D458N Substitution - Missense 3:196472163-196472163 - TCGA-G3-A25S-01 COSM4116397 c.110A>G p.K37R Substitution - Missense 3:196503064-196503064 - TCGA-EE-A2MJ-06 COSM3591866 c.1639T>C p.S547P Substitution - Missense 3:196471896-196471896 - LC_S14 COSM1186490 c.1163G>A p.R388K Substitution - Missense 3:196472372-196472372 - TCGA-FD-A3SN-01 COSM3774843 c.1542A>T p.S514S Substitution - coding silent 3:196471993-196471993 - CSCC-52-T COSM4475449 c.198C>T p.T66T Substitution - coding silent 3:196502976-196502976 - 367 COSM3723390 c.1312G>C p.E438Q Substitution - Missense 3:196472223-196472223 - Pat_59_A COSM1723274 c.490delA p.R164fs*9 Deletion - Frameshift 3:196487467-196487467 - ME020T COSM225538 c.691_692CC>TT p.P231>? Complex 3:196475301-196475302 - 587342 COSM1223933 c.736G>T p.E246* Substitution - Nonsense 3:196475257-196475257 - TCGA-AP-A051-01 COSM1043041 c.378+1G>A p.? Unknown 3:196488606-196488606 - 4_RESISTANT COSM1724634 c.475delA p.R159fs*14 Deletion - Frameshift 3:196487482-196487482 - pfg008T COSM1642214 c.1284delA p.K428fs*2 Deletion - Frameshift 3:196472251-196472251 - TCGA-B5-A0JY-01 COSM1043038 c.1269A>C p.I423I Substitution - coding silent 3:196472266-196472266 - TCGA-A3-3320-01 COSM1495527 c.645T>A p.S215R Substitution - Missense 3:196483805-196483805 - B60 COSM1422002 c.736G>C p.E246Q Substitution - Missense 3:196475257-196475257 - TCGA-18-3414-01 COSM730530 c.967A>G p.K323E Substitution - Missense 3:196472568-196472568 - TCGA-D8-A27G-01 COSM3847157 c.1220G>C p.R407T Substitution - Missense 3:196472315-196472315 - TCGA-IR-A3LA-01 COSM1294100 c.1531G>C p.E511Q Substitution - Missense 3:196472004-196472004 - PD11372a COSM4983113 c.176C>T p.S59L Substitution - Missense 3:196502998-196502998 - TCGA-D1-A101-01 COSM1043040 c.493C>T p.R165* Substitution - Nonsense 3:196487464-196487464 - TCGA-CD-A4MI-01 COSM4116391 c.1641C>T p.S547S Substitution - coding silent 3:196471894-196471894 - TCGA-D8-A27G-01 COSM5226339 c.659_662delGAAA p.R220fs*9 Deletion - Frameshift 3:196483788-196483791 - T3724 COSM4722033 c.1122T>C p.N374N Substitution - coding silent 3:196472413-196472413 - TCGA-AG-3887-01 COSM256169 c.1338C>G p.D446E Substitution - Missense 3:196472197-196472197 - C008 COSM5523702 c.254C>T p.P85L Substitution - Missense 3:196502920-196502920 - ATL085 COSM5708666 c.1448C>T p.P483L Substitution - Missense 3:196472087-196472087 - 417 COSM4431715 c.1627C>T p.H543Y Substitution - Missense 3:196471908-196471908 - HRA19 COSM4637909 c.1711A>G p.K571E Substitution - Missense 3:196471824-196471824 - TCGA-B5-A11G-01 COSM1043042 c.271A>G p.R91G Substitution - Missense 3:196502903-196502903 - CHC303T COSM4957902 c.920A>C p.E307A Substitution - Missense 3:196472615-196472615 - 075T COSM1730663 c.123G>T p.Q41H Substitution - Missense 3:196503051-196503051 - TCGA-BR-6452-01 COSM4116395 c.532C>A p.L178M Substitution - Missense 3:196487425-196487425 - TCGA-AG-A00H-01 COSM265243 c.528G>T p.E176D Substitution - Missense 3:196487429-196487429 - TCGA-BR-A4QL-01 COSM4116397 c.110A>G p.K37R Substitution - Missense 3:196503064-196503064 - pfg258T COSM4764249 c.1007G>C p.R336T Substitution - Missense 3:196472528-196472528 - TCGA-E1-5307-01 COSM3974340 c.242A>G p.Q81R Substitution - Missense 3:196502932-196502932 - B89-10 COSM1753120 c.1054G>C p.E352Q Substitution - Missense 3:196472481-196472481 - T1154 COSM4722034 c.403G>C p.E135Q Substitution - Missense 3:196487554-196487554 - BD242T COSM5495796 c.1174G>A p.E392K Substitution - Missense 3:196472361-196472361 - 587376 COSM1223934 c.238A>C p.I80L Substitution - Missense 3:196502936-196502936 - TCGA-DS-A1OC-01 COSM1294100 c.1531G>C p.E511Q Substitution - Missense 3:196472004-196472004 - RK038_C01 COSM3702398 c.1400A>G p.Q467R Substitution - Missense 3:196472135-196472135 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.250648 3q29 612688

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.378+26T>G 3 196215452 NSCLC A G Missense p.F566L c.1696T>C 3 196198710 CM A G Missense p.I271T c.812T>C 3 196199594 BRCA A G Missense p.S547P c.1639T>C 3 196198767 CM C A Missense p.E176D c.528G>T 3 196214300 COREAD C A Synonymous p.S42S c.126G>T 3 196229919 LUAD CG - Frameshift p.R57Gfs*34 c.169_170delCG 3 196229875 GBM C G Missense p.E438Q c.1312G>C 3 196199094 HNSC C G Missense p.E456Q c.1366G>C 3 196199040 LUAD C T 5-UTRSNV . c.1-36G>A 3 196230080 CM C T Missense p.D255N c.763G>A 3 196199643 GBM C T Missense p.E422K c.1264G>A 3 196199142 BLCA C T Missense p.R118K c.353G>A 3 196215503 CM C T Missense p.R533K c.1598G>A 3 196198808 LUAD C T Synonymous p.K535K c.1605G>A 3 196198801 HNSC G A Synonymous p.A356A c.1068C>T 3 196199338 CM G A Synonymous p.P198P c.594C>T 3 196210727 LUAD G A Synonymous p.S251S c.753C>T 3 196202111 CM G A Synonymous p.S282S c.846C>T 3 196199560 CM G C Missense p.D446E c.1338C>G 3 196199068 COREAD G C Missense p.H475D c.1423C>G 3 196198983 LUSC G C Missense p.P333R c.998C>G 3 196199408 BRCA GG AA Missense p.P231L c.691_692delinsTT 3 196202172 CM GG AA Synonymous p.(=) c.1134_1135delinsTT 3 196199271 CM G T Missense p.P38Q c.113C>A 3 196229932 LUAD T C Missense p.K323E c.967A>G 3 196199439 LUSC T C Missense p.K506E c.1516A>G 3 196198890 UCEC T C Missense p.K89R c.266A>G 3 196229779 LUSC T C Missense p.Q81R c.242A>G 3 196229803 LGG T C Missense p.R91G c.271A>G 3 196229774 UCEC T C Synonymous p.E115E c.345A>G 3 196215511 CM T - Frameshift p.K428Nfs*2 c.1284delA 3 196199122 STAD T G Missense p.E137D c.411A>C 3 196214417 GBM