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 4 89311864 89311865 + Frame_Shift_Ins INS - - C TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr4:89311864_89311865insC c.497_498insC c.(496-501)ttccccfs p.FP166fs BLCA 4 89304426 89304426 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr4:89304426G>C c.253G>C c.(253-255)Gag>Cag p.E85Q BLCA 4 89311972 89311972 + Nonsense_Mutation SNP C C A TCGA-FD-A5C1-01A-11D-A289-08 TCGA-FD-A5C1-10A-01D-A289-08 g.chr4:89311972C>A c.605C>A c.(604-606)tCg>tAg p.S202* BLCA 4 89317230 89317230 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr4:89317230G>C c.823G>C c.(823-825)Gag>Cag p.E275Q BLCA 4 89319308 89319308 + Nonsense_Mutation SNP C C T TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr4:89319308C>T c.1039C>T c.(1039-1041)Caa>Taa p.Q347* BLCA 4 89334244 89334244 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr4:89334244G>A c.1384G>A c.(1384-1386)Gag>Aag p.E462K BLCA 4 89345081 89345081 + Missense_Mutation SNP T T C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:89345081T>C c.1783T>C c.(1783-1785)Ttt>Ctt p.F595L BLCA 4 89345855 89345855 + Splice_Site SNP G G C TCGA-G2-AA3C-01A-21D-A391-08 TCGA-G2-AA3C-10A-01D-A394-08 g.chr4:89345855G>C c.e15+1 BLCA 4 89352340 89352340 + Silent SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr4:89352340T>A c.2133T>A c.(2131-2133)ccT>ccA p.P711P BLCA 4 89352367 89352367 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr4:89352367C>G c.2160C>G c.(2158-2160)ttC>ttG p.F720L BLCA 4 89361189 89361189 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr4:89361189G>C c.2719G>C c.(2719-2721)Gac>Cac p.D907H BLCA 4 89363544 89363544 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr4:89363544G>C c.3001G>C c.(3001-3003)Gag>Cag p.E1001Q BRCA 4 89304502 89304502 + Missense_Mutation SNP G G A TCGA-B6-A0WV-01A-11D-A10G-09 TCGA-B6-A0WV-10A-01D-A10G-09 g.chr4:89304502G>A c.329G>A c.(328-330)gGa>gAa p.G110E BRCA 4 89311819 89311819 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:89311819C>T c.452C>T c.(451-453)tCg>tTg p.S151L BRCA 4 89326043 89326043 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chr4:89326043C>T c.1108C>T c.(1108-1110)Cgt>Tgt p.R370C BRCA 4 89329723 89329723 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr4:89329723G>A c.1322G>A c.(1321-1323)aGa>aAa p.R441K BRCA 4 89334350 89334350 + Nonsense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr4:89334350G>A c.1490G>A c.(1489-1491)tGg>tAg p.W497* BRCA 4 89338639 89338639 + Missense_Mutation SNP G G A TCGA-AR-A2LL-01A-11D-A17W-09 TCGA-AR-A2LL-10A-01D-A17W-09 g.chr4:89338639G>A c.1621G>A c.(1621-1623)Gcc>Acc p.A541T BRCA 4 89345780 89345780 + Missense_Mutation SNP A A G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chr4:89345780A>G c.1861A>G c.(1861-1863)Agt>Ggt p.S621G BRCA 4 89345805 89345805 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:89345805C>T c.1886C>T c.(1885-1887)tCg>tTg p.S629L BRCA 4 89363548 89363548 + Missense_Mutation SNP A A G TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 g.chr4:89363548A>G c.3005A>G c.(3004-3006)gAa>gGa p.E1002G CESC 4 89304372 89304372 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr4:89304372G>T c.e2-1 CESC 4 89326036 89326036 + Silent SNP T T C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 g.chr4:89326036T>C c.1101T>C c.(1099-1101)agT>agC p.S367S CESC 4 89361087 89361087 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr4:89361087G>C c.2617G>C c.(2617-2619)Gag>Cag p.E873Q CESC 4 89363429 89363429 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr4:89363429G>A c.2886G>A c.(2884-2886)caG>caA p.Q962Q CESC 4 89363478 89363478 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr4:89363478C>T c.2935C>T c.(2935-2937)Cac>Tac p.H979Y COAD 4 89304465 89304465 + Missense_Mutation SNP G G A TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr4:89304465G>A c.292G>A c.(292-294)Gca>Aca p.A98T COAD 4 89311819 89311819 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr4:89311819C>A c.452C>A c.(451-453)tCg>tAg p.S151* COAD 4 89311883 89311883 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:89311883G>A c.516G>A c.(514-516)ccG>ccA p.P172P COAD 4 89314665 89314665 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:89314665C>T c.690C>T c.(688-690)gtC>gtT p.V230V COAD 4 89317276 89317276 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:89317276C>T c.869C>T c.(868-870)tCg>tTg p.S290L COAD 4 89318070 89318070 + Missense_Mutation SNP A A G TCGA-A6-6648-01A-11D-1771-10 TCGA-A6-6648-10A-01D-1771-10 g.chr4:89318070A>G c.955A>G c.(955-957)Aca>Gca p.T319A COAD 4 89326743 89326743 + Missense_Mutation SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr4:89326743A>G c.1252A>G c.(1252-1254)Act>Gct p.T418A COAD 4 89338616 89338616 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr4:89338616C>T c.1598C>T c.(1597-1599)cCg>cTg p.P533L COAD 4 89338675 89338675 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr4:89338675G>A c.1657G>A c.(1657-1659)Gaa>Aaa p.E553K COAD 4 89349778 89349778 + Frame_Shift_Del DEL A A - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:89349778delA c.1982delA c.(1981-1983)caafs p.Q661fs COAD 4 89349834 89349834 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:89349834C>T c.2038C>T c.(2038-2040)Cgc>Tgc p.R680C COAD 4 89356891 89356891 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:89356891G>A c.2265G>A c.(2263-2265)aaG>aaA p.K755K COAD 4 89356967 89356967 + Silent SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:89356967C>T c.2341C>T c.(2341-2343)Ctg>Ttg p.L781L COAD 4 89361068 89361068 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:89361068C>T c.2598C>T c.(2596-2598)gtC>gtT p.V866V COAD 4 89363400 89363400 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr4:89363400C>T c.2857C>T c.(2857-2859)Cgt>Tgt p.R953C COAD 4 89363401 89363401 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:89363401G>A c.2858G>A c.(2857-2859)cGt>cAt p.R953H COAD 4 89363508 89363508 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:89363508C>A c.2965C>A c.(2965-2967)Ctc>Atc p.L989I COADREAD 4 89304465 89304465 + Missense_Mutation SNP G G A TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr4:89304465G>A c.292G>A c.(292-294)Gca>Aca p.A98T COADREAD 4 89311819 89311819 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr4:89311819C>A c.452C>A c.(451-453)tCg>tAg p.S151* COADREAD 4 89311883 89311883 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:89311883G>A c.516G>A c.(514-516)ccG>ccA p.P172P COADREAD 4 89314665 89314665 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:89314665C>T c.690C>T c.(688-690)gtC>gtT p.V230V COADREAD 4 89317276 89317276 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:89317276C>T c.869C>T c.(868-870)tCg>tTg p.S290L COADREAD 4 89318070 89318070 + Missense_Mutation SNP A A G TCGA-A6-6648-01A-11D-1771-10 TCGA-A6-6648-10A-01D-1771-10 g.chr4:89318070A>G c.955A>G c.(955-957)Aca>Gca p.T319A COADREAD 4 89326743 89326743 + Missense_Mutation SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr4:89326743A>G c.1252A>G c.(1252-1254)Act>Gct p.T418A COADREAD 4 89329708 89329708 + Missense_Mutation SNP A A G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr4:89329708A>G c.1307A>G c.(1306-1308)gAc>gGc p.D436G COADREAD 4 89334236 89334236 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr4:89334236C>T c.1376C>T c.(1375-1377)aCg>aTg p.T459M COADREAD 4 89334267 89334267 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:89334267T>C c.1407T>C c.(1405-1407)ctT>ctC p.L469L COADREAD 4 89338616 89338616 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr4:89338616C>T c.1598C>T c.(1597-1599)cCg>cTg p.P533L COADREAD 4 89338675 89338675 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr4:89338675G>A c.1657G>A c.(1657-1659)Gaa>Aaa p.E553K COADREAD 4 89349778 89349778 + Frame_Shift_Del DEL A A - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:89349778delA c.1982delA c.(1981-1983)caafs p.Q661fs COADREAD 4 89349834 89349834 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:89349834C>T c.2038C>T c.(2038-2040)Cgc>Tgc p.R680C COADREAD 4 89356891 89356891 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:89356891G>A c.2265G>A c.(2263-2265)aaG>aaA p.K755K COADREAD 4 89356967 89356967 + Silent SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:89356967C>T c.2341C>T c.(2341-2343)Ctg>Ttg p.L781L COADREAD 4 89361068 89361068 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:89361068C>T c.2598C>T c.(2596-2598)gtC>gtT p.V866V COADREAD 4 89363400 89363400 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr4:89363400C>T c.2857C>T c.(2857-2859)Cgt>Tgt p.R953C COADREAD 4 89363401 89363401 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:89363401G>A c.2858G>A c.(2857-2859)cGt>cAt p.R953H COADREAD 4 89363508 89363508 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:89363508C>A c.2965C>A c.(2965-2967)Ctc>Atc p.L989I DLBC 4 89338691 89338691 + Missense_Mutation SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr4:89338691A>G c.1673A>G c.(1672-1674)aAt>aGt p.N558S ESCA 4 89304465 89304465 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 g.chr4:89304465G>T c.292G>T c.(292-294)Gca>Tca p.A98S ESCA 4 89319299 89319299 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 g.chr4:89319299G>A c.1030G>A c.(1030-1032)Gtg>Atg p.V344M ESCA 4 89338611 89338611 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr4:89338611G>T c.1593G>T c.(1591-1593)ctG>ctT p.L531L GBMLGG 4 89319298 89319298 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:89319298C>T c.1029C>T c.(1027-1029)ttC>ttT p.F343F HNSC 4 89311908 89311908 + Missense_Mutation SNP A A G TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 g.chr4:89311908A>G c.541A>G c.(541-543)Atc>Gtc p.I181V HNSC 4 89314703 89314703 + Missense_Mutation SNP G G A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 g.chr4:89314703G>A c.728G>A c.(727-729)tGt>tAt p.C243Y HNSC 4 89318075 89318075 + Missense_Mutation SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 g.chr4:89318075C>A c.960C>A c.(958-960)agC>agA p.S320R HNSC 4 89326088 89326088 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 g.chr4:89326088T>A c.1153T>A c.(1153-1155)Tcc>Acc p.S385T HNSC 4 89345072 89345072 + Missense_Mutation SNP T T G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 g.chr4:89345072T>G c.1774T>G c.(1774-1776)Tta>Gta p.L592V HNSC 4 89345806 89345806 + Silent SNP G G T TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr4:89345806G>T c.1887G>T c.(1885-1887)tcG>tcT p.S629S KICH 4 89363472 89363472 + Missense_Mutation SNP A A G TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr4:89363472A>G c.2929A>G c.(2929-2931)Aga>Gga p.R977G KIPAN 4 89334236 89334236 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 g.chr4:89334236C>T c.1376C>T c.(1375-1377)aCg>aTg p.T459M KIPAN 4 89361148 89361148 + Missense_Mutation SNP C C A TCGA-SX-A71R-01A-12D-A33Q-10 TCGA-SX-A71R-10A-01D-A33Q-10 g.chr4:89361148C>A c.2678C>A c.(2677-2679)cCt>cAt p.P893H KIPAN 4 89361324 89361324 + Missense_Mutation SNP C C A TCGA-Y8-A897-01A-11D-A35Z-10 TCGA-Y8-A897-10A-01D-A35Z-10 g.chr4:89361324C>A c.2764C>A c.(2764-2766)Caa>Aaa p.Q922K KIPAN 4 89363472 89363472 + Missense_Mutation SNP A A G TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr4:89363472A>G c.2929A>G c.(2929-2931)Aga>Gga p.R977G KIRC 4 89334236 89334236 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 g.chr4:89334236C>T c.1376C>T c.(1375-1377)aCg>aTg p.T459M KIRP 4 89361148 89361148 + Missense_Mutation SNP C C A TCGA-SX-A71R-01A-12D-A33Q-10 TCGA-SX-A71R-10A-01D-A33Q-10 g.chr4:89361148C>A c.2678C>A c.(2677-2679)cCt>cAt p.P893H KIRP 4 89361324 89361324 + Missense_Mutation SNP C C A TCGA-Y8-A897-01A-11D-A35Z-10 TCGA-Y8-A897-10A-01D-A35Z-10 g.chr4:89361324C>A c.2764C>A c.(2764-2766)Caa>Aaa p.Q922K LGG 4 89319298 89319298 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:89319298C>T c.1029C>T c.(1027-1029)ttC>ttT p.F343F LIHC 4 89326115 89326115 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr4:89326115delA c.1180delA c.(1180-1182)aaafs p.K394fs LIHC 4 89329771 89329771 + Splice_Site SNP T T C TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr4:89329771T>C c.e11+2 LIHC 4 89356960 89356960 + Silent SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr4:89356960T>C c.2334T>C c.(2332-2334)ccT>ccC p.P778P LUAD 4 89311904 89311904 + Missense_Mutation SNP G G T TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr4:89311904G>T c.537G>T c.(535-537)gaG>gaT p.E179D LUAD 4 89311943 89311943 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr4:89311943C>A c.576C>A c.(574-576)caC>caA p.H192Q LUAD 4 89318022 89318022 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr4:89318022G>T c.907G>T c.(907-909)Gtg>Ttg p.V303L LUAD 4 89318080 89318080 + Missense_Mutation SNP C C T TCGA-86-8671-01A-11D-2393-08 TCGA-86-8671-10A-01D-2393-08 g.chr4:89318080C>T c.965C>T c.(964-966)cCa>cTa p.P322L LUAD 4 89326124 89326124 + Missense_Mutation SNP A A G TCGA-17-Z052-01A-01W-0747-08 TCGA-17-Z052-11A-01W-0747-08 g.chr4:89326124A>G c.1189A>G c.(1189-1191)Agt>Ggt p.S397G LUAD 4 89334306 89334306 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr4:89334306C>T c.1446C>T c.(1444-1446)ttC>ttT p.F482F LUAD 4 89338598 89338598 + Missense_Mutation SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr4:89338598A>C c.1580A>C c.(1579-1581)cAa>cCa p.Q527P LUAD 4 89349840 89349840 + Missense_Mutation SNP G G T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr4:89349840G>T c.2044G>T c.(2044-2046)Gtt>Ttt p.V682F LUAD 4 89352391 89352391 + Missense_Mutation SNP G G T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr4:89352391G>T c.2184G>T c.(2182-2184)atG>atT p.M728I LUAD 4 89352418 89352418 + Missense_Mutation SNP G G A TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr4:89352418G>A c.2211G>A c.(2209-2211)atG>atA p.M737I LUAD 4 89358911 89358911 + Missense_Mutation SNP A A G TCGA-17-Z044-01A-01W-0746-08 TCGA-17-Z044-11A-01W-0746-08 g.chr4:89358911A>G c.2533A>G c.(2533-2535)Ata>Gta p.I845V LUAD 4 89358919 89358919 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr4:89358919G>T c.2541G>T c.(2539-2541)gtG>gtT p.V847V LUAD 4 89363544 89363544 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr4:89363544G>A c.3001G>A c.(3001-3003)Gag>Aag p.E1001K LUSC 4 89317227 89317227 + Missense_Mutation SNP C C A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr4:89317227C>A c.820C>A c.(820-822)Cct>Act p.P274T LUSC 4 89326086 89326086 + Missense_Mutation SNP A A T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 g.chr4:89326086A>T c.1151A>T c.(1150-1152)cAg>cTg p.Q384L LUSC 4 89352393 89352393 + Missense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr4:89352393C>G c.2186C>G c.(2185-2187)aCc>aGc p.T729S LUSC 4 89358063 89358063 + Silent SNP G G A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chr4:89358063G>A c.2424G>A c.(2422-2424)ttG>ttA p.L808L LUSC 4 89361102 89361102 + Missense_Mutation SNP G G C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chr4:89361102G>C c.2632G>C c.(2632-2634)Gga>Cga p.G878R LUSC 4 89363384 89363384 + Splice_Site SNP A A G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr4:89363384A>G c.e23-1 LUSC 4 89363429 89363429 + Missense_Mutation SNP G G C TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr4:89363429G>C c.2886G>C c.(2884-2886)caG>caC p.Q962H OV 4 89314721 89314721 + Missense_Mutation SNP C C T TCGA-04-1356-01A-01W-0492-08 TCGA-04-1356-11A-01W-0492-08 g.chr4:89314721C>T c.746C>T c.(745-747)gCg>gTg p.A249V PAAD 4 89311904 89311904 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:89311904G>T c.537G>T c.(535-537)gaG>gaT p.E179D PAAD 4 89317258 89317258 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:89317258G>T c.851G>T c.(850-852)aGa>aTa p.R284I PAAD 4 89334269 89334269 + Missense_Mutation SNP C C A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 g.chr4:89334269C>A c.1409C>A c.(1408-1410)cCa>cAa p.P470Q PRAD 4 89363501 89363501 + Silent SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:89363501T>C c.2958T>C c.(2956-2958)caT>caC p.H986H READ 4 89329708 89329708 + Missense_Mutation SNP A A G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr4:89329708A>G c.1307A>G c.(1306-1308)gAc>gGc p.D436G READ 4 89334236 89334236 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr4:89334236C>T c.1376C>T c.(1375-1377)aCg>aTg p.T459M READ 4 89334267 89334267 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:89334267T>C c.1407T>C c.(1405-1407)ctT>ctC p.L469L SARC 4 89338623 89338623 + Silent SNP C C T TCGA-FX-A76Y-01A-11D-A351-09 TCGA-FX-A76Y-10A-01D-A351-09 g.chr4:89338623C>T c.1605C>T c.(1603-1605)atC>atT p.I535I SKCM 4 89304376 89304376 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:89304376C>T c.203C>T c.(202-204)cCa>cTa p.P68L SKCM 4 89304453 89304453 + Missense_Mutation SNP G G A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr4:89304453G>A c.280G>A c.(280-282)Gga>Aga p.G94R SKCM 4 89311819 89311819 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr4:89311819C>T c.452C>T c.(451-453)tCg>tTg p.S151L SKCM 4 89311825 89311825 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr4:89311825G>A c.458G>A c.(457-459)gGa>gAa p.G153E SKCM 4 89326027 89326027 + Splice_Site SNP G G A TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr4:89326027G>A c.e9-1 SKCM 4 89326115 89326115 + Nonsense_Mutation SNP A A T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr4:89326115A>T c.1180A>T c.(1180-1182)Aaa>Taa p.K394*

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 4 89319296 89319296 single base substitution T C downstream_gene_variant BLCA-CN 4 89319296 89319296 single base substitution T C exon_variant BLCA-CN 4 89319296 89319296 single base substitution T C missense_variant F343L 1027T>C BLCA-CN 4 89319296 89319296 single base substitution T C splice_region_variant BLCA-US 4 89300153 89300161 deletion of <=200bp AGGCGGCCA - disruptive_inframe_deletion QAAS27R BLCA-US 4 89300153 89300161 deletion of <=200bp AGGCGGCCA - exon_variant BLCA-US 4 89300153 89300161 deletion of <=200bp AGGCGGCCA - upstream_gene_variant BLCA-US 4 89334244 89334244 single base substitution G A missense_variant E462K 1384G>A BLCA-US 4 89352340 89352340 single base substitution T A synonymous_variant P675P 2025T>A BLCA-US 4 89352340 89352340 single base substitution T A synonymous_variant P711P 2133T>A BLCA-US 4 89361189 89361189 single base substitution G C exon_variant BLCA-US 4 89361189 89361189 single base substitution G C missense_variant D871H 2611G>C BLCA-US 4 89361189 89361189 single base substitution G C missense_variant D907H 2719G>C BLCA-US 4 89363544 89363544 single base substitution G C downstream_gene_variant BLCA-US 4 89363544 89363544 single base substitution G C missense_variant E1001Q 3001G>C BLCA-US 4 89363544 89363544 single base substitution G C missense_variant E965Q 2893G>C BOCA-FR 4 89326615 89326615 single base substitution C T downstream_gene_variant BOCA-FR 4 89326615 89326615 single base substitution C T intron_variant BRCA-EU 4 89295068 89295068 single base substitution T C upstream_gene_variant BRCA-EU 4 89295299 89295299 single base substitution C T upstream_gene_variant BRCA-EU 4 89295478 89295478 single base substitution C T upstream_gene_variant BRCA-EU 4 89297010 89297010 single base substitution C T upstream_gene_variant BRCA-EU 4 89297645 89297645 single base substitution A T upstream_gene_variant BRCA-EU 4 89297737 89297737 single base substitution A G upstream_gene_variant BRCA-EU 4 89298034 89298034 single base substitution C T upstream_gene_variant BRCA-EU 4 89298066 89298066 single base substitution C T upstream_gene_variant BRCA-EU 4 89299204 89299204 single base substitution T A upstream_gene_variant BRCA-EU 4 89299205 89299205 single base substitution C A upstream_gene_variant BRCA-EU 4 89299364 89299364 single base substitution G T upstream_gene_variant BRCA-EU 4 89299463 89299463 single base substitution C T upstream_gene_variant BRCA-EU 4 89302547 89302547 single base substitution C G intron_variant BRCA-EU 4 89302644 89302644 single base substitution A G intron_variant BRCA-EU 4 89303890 89303890 deletion of <=200bp G - intron_variant BRCA-EU 4 89305453 89305453 single base substitution C G intron_variant BRCA-EU 4 89306200 89306200 single base substitution T C intron_variant BRCA-EU 4 89306599 89306599 single base substitution G T intron_variant BRCA-EU 4 89307442 89307442 single base substitution C G intron_variant BRCA-EU 4 89307442 89307442 single base substitution C G upstream_gene_variant BRCA-EU 4 89307474 89307474 single base substitution C T intron_variant BRCA-EU 4 89307474 89307474 single base substitution C T upstream_gene_variant BRCA-EU 4 89307755 89307755 deletion of <=200bp A - intron_variant BRCA-EU 4 89307755 89307755 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 89308984 89308986 deletion of <=200bp CTT - intron_variant BRCA-EU 4 89308984 89308986 deletion of <=200bp CTT - upstream_gene_variant BRCA-EU 4 89309161 89309161 single base substitution A T intron_variant BRCA-EU 4 89309161 89309161 single base substitution A T upstream_gene_variant BRCA-EU 4 89309229 89309229 single base substitution C A intron_variant BRCA-EU 4 89309229 89309229 single base substitution C A upstream_gene_variant BRCA-EU 4 89312299 89312299 single base substitution G T downstream_gene_variant BRCA-EU 4 89312299 89312299 single base substitution G T intron_variant BRCA-EU 4 89314027 89314027 single base substitution A G downstream_gene_variant BRCA-EU 4 89314027 89314027 single base substitution A G intron_variant BRCA-EU 4 89315131 89315131 single base substitution G T downstream_gene_variant BRCA-EU 4 89315131 89315131 single base substitution G T intron_variant BRCA-EU 4 89316847 89316847 single base substitution T A downstream_gene_variant BRCA-EU 4 89316847 89316847 single base substitution T A intron_variant BRCA-EU 4 89318007 89318007 single base substitution C G exon_variant BRCA-EU 4 89318007 89318007 single base substitution C G intron_variant BRCA-EU 4 89318007 89318007 single base substitution C G missense_variant H298D 892C>G BRCA-EU 4 89320686 89320686 single base substitution G A downstream_gene_variant BRCA-EU 4 89320686 89320686 single base substitution G A exon_variant BRCA-EU 4 89320686 89320686 single base substitution G A intron_variant BRCA-EU 4 89324390 89324390 single base substitution T A downstream_gene_variant BRCA-EU 4 89324390 89324390 single base substitution T A intron_variant BRCA-EU 4 89324957 89324957 single base substitution G A downstream_gene_variant BRCA-EU 4 89324957 89324957 single base substitution G A intron_variant BRCA-EU 4 89324998 89324998 single base substitution T A downstream_gene_variant BRCA-EU 4 89324998 89324998 single base substitution T A intron_variant BRCA-EU 4 89325592 89325592 single base substitution C T downstream_gene_variant BRCA-EU 4 89325592 89325592 single base substitution C T intron_variant BRCA-EU 4 89325673 89325673 single base substitution C T downstream_gene_variant BRCA-EU 4 89325673 89325673 single base substitution C T intron_variant BRCA-EU 4 89326117 89326117 single base substitution A G exon_variant BRCA-EU 4 89326117 89326117 single base substitution A G synonymous_variant K394K 1182A>G BRCA-EU 4 89326396 89326396 single base substitution G A downstream_gene_variant BRCA-EU 4 89326396 89326396 single base substitution G A intron_variant BRCA-EU 4 89327006 89327006 single base substitution G C downstream_gene_variant BRCA-EU 4 89327006 89327006 single base substitution G C intron_variant BRCA-EU 4 89327350 89327350 single base substitution A C downstream_gene_variant BRCA-EU 4 89327350 89327350 single base substitution A C intron_variant BRCA-EU 4 89327898 89327898 insertion of <=200bp - T downstream_gene_variant BRCA-EU 4 89327898 89327898 insertion of <=200bp - T intron_variant BRCA-EU 4 89328054 89328054 single base substitution G A downstream_gene_variant BRCA-EU 4 89328054 89328054 single base substitution G A intron_variant BRCA-EU 4 89328777 89328777 single base substitution T C downstream_gene_variant BRCA-EU 4 89328777 89328777 single base substitution T C intron_variant BRCA-EU 4 89329389 89329389 single base substitution G A downstream_gene_variant BRCA-EU 4 89329389 89329389 single base substitution G A intron_variant BRCA-EU 4 89331492 89331492 single base substitution G C intron_variant BRCA-EU 4 89332515 89332515 single base substitution T C intron_variant BRCA-EU 4 89333944 89333944 single base substitution C G intron_variant BRCA-EU 4 89336147 89336147 single base substitution C T intron_variant BRCA-EU 4 89337013 89337013 single base substitution G A intron_variant BRCA-EU 4 89339816 89339816 single base substitution G A intron_variant BRCA-EU 4 89340459 89340459 single base substitution G A intron_variant BRCA-EU 4 89340963 89340963 single base substitution C G intron_variant BRCA-EU 4 89341449 89341449 single base substitution C T intron_variant BRCA-EU 4 89342048 89342048 single base substitution C T intron_variant BRCA-EU 4 89343134 89343134 single base substitution G C intron_variant BRCA-EU 4 89344954 89344954 single base substitution C G intron_variant BRCA-EU 4 89345305 89345305 single base substitution G A intron_variant BRCA-EU 4 89345663 89345663 deletion of <=200bp A - intron_variant BRCA-EU 4 89346593 89346593 single base substitution G A intron_variant BRCA-EU 4 89346821 89346821 single base substitution G C intron_variant BRCA-EU 4 89346822 89346822 single base substitution G A intron_variant BRCA-EU 4 89349743 89349743 single base substitution G T missense_variant K613N 1839G>T BRCA-EU 4 89349743 89349743 single base substitution G T missense_variant K649N 1947G>T BRCA-EU 4 89350266 89350266 single base substitution C G intron_variant BRCA-EU 4 89351778 89351778 single base substitution T G intron_variant BRCA-EU 4 89352482 89352482 single base substitution C T intron_variant BRCA-EU 4 89352945 89352945 single base substitution G T intron_variant BRCA-EU 4 89353929 89353929 single base substitution T A intron_variant BRCA-EU 4 89354478 89354478 single base substitution G C intron_variant BRCA-EU 4 89354956 89354956 single base substitution C G intron_variant BRCA-EU 4 89361097 89361097 single base substitution A T exon_variant BRCA-EU 4 89361097 89361097 single base substitution A T missense_variant Q840L 2519A>T BRCA-EU 4 89361097 89361097 single base substitution A T missense_variant Q876L 2627A>T BRCA-EU 4 89362447 89362447 single base substitution C T downstream_gene_variant BRCA-EU 4 89362447 89362447 single base substitution C T intron_variant BRCA-EU 4 89363457 89363457 single base substitution G T downstream_gene_variant BRCA-EU 4 89363457 89363457 single base substitution G T stop_gained E936* 2806G>T BRCA-EU 4 89363457 89363457 single base substitution G T stop_gained E972* 2914G>T BRCA-EU 4 89365676 89365676 single base substitution C G downstream_gene_variant BRCA-EU 4 89366196 89366196 single base substitution C T downstream_gene_variant BRCA-FR 4 89309161 89309161 single base substitution A T intron_variant BRCA-FR 4 89309161 89309161 single base substitution A T upstream_gene_variant BRCA-FR 4 89328054 89328054 single base substitution G A downstream_gene_variant BRCA-FR 4 89328054 89328054 single base substitution G A intron_variant BRCA-FR 4 89343134 89343134 single base substitution G C intron_variant BRCA-FR 4 89344469 89344469 single base substitution A C intron_variant BRCA-FR 4 89344954 89344954 single base substitution C G intron_variant BRCA-FR 4 89349743 89349743 single base substitution G T missense_variant K613N 1839G>T BRCA-FR 4 89349743 89349743 single base substitution G T missense_variant K649N 1947G>T BRCA-FR 4 89363457 89363457 single base substitution G T downstream_gene_variant BRCA-FR 4 89363457 89363457 single base substitution G T stop_gained E936* 2806G>T BRCA-FR 4 89363457 89363457 single base substitution G T stop_gained E972* 2914G>T BRCA-UK 4 89302547 89302547 single base substitution C G intron_variant BRCA-US 4 89304502 89304502 single base substitution G A 3_prime_UTR_variant BRCA-US 4 89304502 89304502 single base substitution G A exon_variant BRCA-US 4 89304502 89304502 single base substitution G A missense_variant G110E 329G>A BRCA-US 4 89304502 89304502 single base substitution G A missense_variant G74E 221G>A BRCA-US 4 89311819 89311819 single base substitution C T 3_prime_UTR_variant BRCA-US 4 89311819 89311819 single base substitution C T exon_variant BRCA-US 4 89311819 89311819 single base substitution C T missense_variant S115L 344C>T BRCA-US 4 89311819 89311819 single base substitution C T missense_variant S151L 452C>T BRCA-US 4 89311819 89311819 single base substitution C T upstream_gene_variant BRCA-US 4 89326043 89326043 single base substitution C T exon_variant BRCA-US 4 89326043 89326043 single base substitution C T missense_variant R370C 1108C>T BRCA-US 4 89329723 89329723 single base substitution G A downstream_gene_variant BRCA-US 4 89329723 89329723 single base substitution G A missense_variant R441K 1322G>A BRCA-US 4 89334350 89334350 single base substitution G A stop_gained W497* 1490G>A BRCA-US 4 89338639 89338639 single base substitution G A missense_variant A541T 1621G>A BRCA-US 4 89345780 89345780 single base substitution A G intron_variant BRCA-US 4 89345780 89345780 single base substitution A G missense_variant S621G 1861A>G BRCA-US 4 89345805 89345805 single base substitution C T intron_variant BRCA-US 4 89345805 89345805 single base substitution C T missense_variant S629L 1886C>T BRCA-US 4 89363548 89363548 single base substitution A G downstream_gene_variant BRCA-US 4 89363548 89363548 single base substitution A G missense_variant E1002G 3005A>G BRCA-US 4 89363548 89363548 single base substitution A G missense_variant E966G 2897A>G BTCA-JP 4 89312019 89312019 single base substitution C T downstream_gene_variant BTCA-JP 4 89312019 89312019 single base substitution C T exon_variant BTCA-JP 4 89312019 89312019 single base substitution C T missense_variant R182C 544C>T BTCA-JP 4 89312019 89312019 single base substitution C T missense_variant R218C 652C>T BTCA-JP 4 89325928 89325928 single base substitution G A intron_variant BTCA-JP 4 89352481 89352481 single base substitution T C intron_variant BTCA-JP 4 89363390 89363390 single base substitution C A downstream_gene_variant BTCA-JP 4 89363390 89363390 single base substitution C A missense_variant F913L 2739C>A BTCA-JP 4 89363390 89363390 single base substitution C A missense_variant F949L 2847C>A CESC-US 4 89304372 89304372 single base substitution G T intron_variant CESC-US 4 89304372 89304372 single base substitution G T splice_acceptor_variant CESC-US 4 89304372 89304372 single base substitution G T stop_gained E31* 91G>T CESC-US 4 89326036 89326036 single base substitution T C exon_variant CESC-US 4 89326036 89326036 single base substitution T C synonymous_variant S367S 1101T>C CESC-US 4 89361087 89361087 single base substitution G C exon_variant CESC-US 4 89361087 89361087 single base substitution G C missense_variant E837Q 2509G>C CESC-US 4 89361087 89361087 single base substitution G C missense_variant E873Q 2617G>C CESC-US 4 89363429 89363429 single base substitution G A downstream_gene_variant CESC-US 4 89363429 89363429 single base substitution G A synonymous_variant Q926Q 2778G>A CESC-US 4 89363429 89363429 single base substitution G A synonymous_variant Q962Q 2886G>A CESC-US 4 89363478 89363478 single base substitution C T downstream_gene_variant CESC-US 4 89363478 89363478 single base substitution C T missense_variant H943Y 2827C>T CESC-US 4 89363478 89363478 single base substitution C T missense_variant H979Y 2935C>T CLLE-ES 4 89316760 89316760 single base substitution A G downstream_gene_variant CLLE-ES 4 89316760 89316760 single base substitution A G intron_variant CLLE-ES 4 89323582 89323582 single base substitution T G downstream_gene_variant CLLE-ES 4 89323582 89323582 single base substitution T G intron_variant CLLE-ES 4 89329635 89329635 single base substitution C T downstream_gene_variant CLLE-ES 4 89329635 89329635 single base substitution C T intron_variant CLLE-ES 4 89335081 89335081 single base substitution T A intron_variant CLLE-ES 4 89368458 89368458 single base substitution A G downstream_gene_variant COAD-US 4 89300241 89300241 single base substitution C A exon_variant COAD-US 4 89300241 89300241 single base substitution C A synonymous_variant G56G 168C>A COAD-US 4 89300241 89300241 single base substitution C A synonymous_variant G8G 24C>A COAD-US 4 89304465 89304465 single base substitution G A 3_prime_UTR_variant COAD-US 4 89304465 89304465 single base substitution G A exon_variant COAD-US 4 89304465 89304465 single base substitution G A missense_variant A62T 184G>A COAD-US 4 89304465 89304465 single base substitution G A missense_variant A98T 292G>A COAD-US 4 89311819 89311819 single base substitution C A 3_prime_UTR_variant COAD-US 4 89311819 89311819 single base substitution C A exon_variant COAD-US 4 89311819 89311819 single base substitution C A stop_gained S115* 344C>A COAD-US 4 89311819 89311819 single base substitution C A stop_gained S151* 452C>A COAD-US 4 89311819 89311819 single base substitution C A upstream_gene_variant COAD-US 4 89311883 89311883 single base substitution G A 3_prime_UTR_variant COAD-US 4 89311883 89311883 single base substitution G A exon_variant COAD-US 4 89311883 89311883 single base substitution G A synonymous_variant P136P 408G>A COAD-US 4 89311883 89311883 single base substitution G A synonymous_variant P172P 516G>A COAD-US 4 89311883 89311883 single base substitution G A upstream_gene_variant COAD-US 4 89314665 89314665 single base substitution C T downstream_gene_variant COAD-US 4 89314665 89314665 single base substitution C T exon_variant COAD-US 4 89314665 89314665 single base substitution C T synonymous_variant V230V 690C>T COAD-US 4 89319296 89319296 single base substitution T C downstream_gene_variant COAD-US 4 89319296 89319296 single base substitution T C exon_variant COAD-US 4 89319296 89319296 single base substitution T C missense_variant F343L 1027T>C COAD-US 4 89319296 89319296 single base substitution T C splice_region_variant COAD-US 4 89338675 89338675 single base substitution G A missense_variant E553K 1657G>A COAD-US 4 89345112 89345112 single base substitution G A missense_variant R605Q 1814G>A COAD-US 4 89356967 89356967 single base substitution C T synonymous_variant L745L 2233C>T COAD-US 4 89356967 89356967 single base substitution C T synonymous_variant L781L 2341C>T COAD-US 4 89356967 89356967 single base substitution C T upstream_gene_variant COAD-US 4 89358080 89358080 single base substitution A C missense_variant D778A 2333A>C COAD-US 4 89358080 89358080 single base substitution A C missense_variant D814A 2441A>C COAD-US 4 89358080 89358080 single base substitution A C upstream_gene_variant COAD-US 4 89363401 89363401 single base substitution G A downstream_gene_variant COAD-US 4 89363401 89363401 single base substitution G A missense_variant R917H 2750G>A COAD-US 4 89363401 89363401 single base substitution G A missense_variant R953H 2858G>A COCA-CN 4 89304372 89304372 single base substitution G T intron_variant COCA-CN 4 89304372 89304372 single base substitution G T splice_acceptor_variant COCA-CN 4 89304372 89304372 single base substitution G T stop_gained E31* 91G>T COCA-CN 4 89306693 89306693 single base substitution C T 3_prime_UTR_variant COCA-CN 4 89306693 89306693 single base substitution C T exon_variant COCA-CN 4 89306693 89306693 single base substitution C T synonymous_variant S134S 402C>T COCA-CN 4 89306693 89306693 single base substitution C T synonymous_variant S98S 294C>T COCA-CN 4 89311835 89311835 single base substitution C A 3_prime_UTR_variant COCA-CN 4 89311835 89311835 single base substitution C A exon_variant COCA-CN 4 89311835 89311835 single base substitution C A missense_variant S120R 360C>A COCA-CN 4 89311835 89311835 single base substitution C A missense_variant S156R 468C>A COCA-CN 4 89311835 89311835 single base substitution C A upstream_gene_variant COCA-CN 4 89318107 89318107 single base substitution A G exon_variant COCA-CN 4 89318107 89318107 single base substitution A G intron_variant COCA-CN 4 89318107 89318107 single base substitution A G missense_variant N331S 992A>G COCA-CN 4 89329762 89329762 single base substitution C A downstream_gene_variant COCA-CN 4 89329762 89329762 single base substitution C A missense_variant S454Y 1361C>A COCA-CN 4 89352479 89352479 single base substitution T C intron_variant COCA-CN 4 89352480 89352480 single base substitution T C intron_variant COCA-CN 4 89352481 89352481 single base substitution T C intron_variant COCA-CN 4 89352482 89352482 single base substitution C T intron_variant EOPC-DE 4 89296223 89296223 single base substitution G A upstream_gene_variant EOPC-DE 4 89307431 89307431 single base substitution C T intron_variant EOPC-DE 4 89307431 89307431 single base substitution C T upstream_gene_variant EOPC-DE 4 89309269 89309269 single base substitution C T intron_variant EOPC-DE 4 89309269 89309269 single base substitution C T upstream_gene_variant EOPC-DE 4 89311495 89311495 single base substitution A T intron_variant EOPC-DE 4 89311495 89311495 single base substitution A T upstream_gene_variant ESAD-UK 4 89295916 89295916 insertion of <=200bp - A upstream_gene_variant ESAD-UK 4 89296800 89296800 single base substitution G T upstream_gene_variant ESAD-UK 4 89296850 89296850 single base substitution G T upstream_gene_variant ESAD-UK 4 89297646 89297646 single base substitution T A upstream_gene_variant ESAD-UK 4 89297894 89297894 single base substitution A G upstream_gene_variant ESAD-UK 4 89298270 89298270 single base substitution C T upstream_gene_variant ESAD-UK 4 89299212 89299212 single base substitution C A upstream_gene_variant ESAD-UK 4 89299593 89299596 deletion of <=200bp CAAA - upstream_gene_variant ESAD-UK 4 89300651 89300651 single base substitution G C intron_variant ESAD-UK 4 89305143 89305143 single base substitution T A intron_variant ESAD-UK 4 89314039 89314039 single base substitution C T downstream_gene_variant ESAD-UK 4 89314039 89314039 single base substitution C T intron_variant ESAD-UK 4 89316137 89316137 single base substitution T C downstream_gene_variant ESAD-UK 4 89316137 89316137 single base substitution T C intron_variant ESAD-UK 4 89317037 89317037 single base substitution C T intron_variant ESAD-UK 4 89317818 89317818 single base substitution G C intron_variant ESAD-UK 4 89318326 89318326 single base substitution G A intron_variant ESAD-UK 4 89320442 89320442 single base substitution C G downstream_gene_variant ESAD-UK 4 89320442 89320442 single base substitution C G exon_variant ESAD-UK 4 89320442 89320442 single base substitution C G intron_variant ESAD-UK 4 89320514 89320514 single base substitution C G downstream_gene_variant ESAD-UK 4 89320514 89320514 single base substitution C G exon_variant ESAD-UK 4 89320514 89320514 single base substitution C G intron_variant ESAD-UK 4 89322780 89322780 single base substitution A G downstream_gene_variant ESAD-UK 4 89322780 89322780 single base substitution A G intron_variant ESAD-UK 4 89323459 89323459 single base substitution G A downstream_gene_variant ESAD-UK 4 89323459 89323459 single base substitution G A intron_variant ESAD-UK 4 89325508 89325508 single base substitution T G downstream_gene_variant ESAD-UK 4 89325508 89325508 single base substitution T G intron_variant ESAD-UK 4 89328146 89328146 single base substitution A G downstream_gene_variant ESAD-UK 4 89328146 89328146 single base substitution A G intron_variant ESAD-UK 4 89336023 89336023 single base substitution A T intron_variant ESAD-UK 4 89336178 89336178 single base substitution C G intron_variant ESAD-UK 4 89337393 89337393 single base substitution G A intron_variant ESAD-UK 4 89341175 89341175 insertion of <=200bp - CT intron_variant ESAD-UK 4 89341790 89341790 single base substitution A G intron_variant ESAD-UK 4 89344997 89344997 single base substitution C T intron_variant ESAD-UK 4 89346769 89346769 single base substitution T G intron_variant ESAD-UK 4 89347051 89347051 single base substitution T C intron_variant ESAD-UK 4 89350732 89350732 single base substitution G A intron_variant ESAD-UK 4 89351186 89351186 single base substitution T G intron_variant ESAD-UK 4 89352227 89352227 single base substitution G A intron_variant ESAD-UK 4 89354096 89354096 single base substitution C T intron_variant ESAD-UK 4 89354983 89354983 single base substitution G T intron_variant ESAD-UK 4 89360168 89360168 single base substitution C A intron_variant ESAD-UK 4 89360168 89360168 single base substitution C A upstream_gene_variant ESAD-UK 4 89360540 89360540 single base substitution A T intron_variant ESAD-UK 4 89360540 89360540 single base substitution A T upstream_gene_variant ESAD-UK 4 89361156 89361156 single base substitution C T exon_variant ESAD-UK 4 89361156 89361156 single base substitution C T synonymous_variant L860L 2578C>T ESAD-UK 4 89361156 89361156 single base substitution C T synonymous_variant L896L 2686C>T ESAD-UK 4 89362738 89362738 single base substitution T G downstream_gene_variant ESAD-UK 4 89362738 89362738 single base substitution T G intron_variant ESAD-UK 4 89364017 89364017 single base substitution T G 3_prime_UTR_variant ESAD-UK 4 89364017 89364017 single base substitution T G downstream_gene_variant ESAD-UK 4 89367572 89367572 deletion of <=200bp T - downstream_gene_variant ESAD-UK 4 89367617 89367617 single base substitution A G downstream_gene_variant ESAD-UK 4 89368138 89368138 single base substitution A C downstream_gene_variant ESAD-UK 4 89368692 89368692 single base substitution A G downstream_gene_variant ESCA-CN 4 89319295 89319295 single base substitution C T downstream_gene_variant ESCA-CN 4 89319295 89319295 single base substitution C T exon_variant ESCA-CN 4 89319295 89319295 single base substitution C T splice_region_variant ESCA-CN 4 89352470 89352470 deletion of <=200bp T - intron_variant LICA-FR 4 89307546 89307546 single base substitution C T intron_variant LICA-FR 4 89307546 89307546 single base substitution C T upstream_gene_variant LICA-FR 4 89349778 89349778 insertion of <=200bp - A frameshift_variant Q625Q? LICA-FR 4 89349778 89349778 insertion of <=200bp - A frameshift_variant Q661Q? LICA-FR 4 89355778 89355778 single base substitution G T intron_variant LICA-FR 4 89356956 89356956 single base substitution T A missense_variant L741H 2222T>A LICA-FR 4 89356956 89356956 single base substitution T A missense_variant L777H 2330T>A LICA-FR 4 89356956 89356956 single base substitution T A upstream_gene_variant LIHC-US 4 89318063 89318063 single base substitution A G exon_variant LIHC-US 4 89318063 89318063 single base substitution A G intron_variant LIHC-US 4 89318063 89318063 single base substitution A G synonymous_variant P316P 948A>G LIHC-US 4 89329771 89329771 single base substitution T C downstream_gene_variant LIHC-US 4 89329771 89329771 single base substitution T C splice_donor_variant LINC-JP 4 89300065 89300065 single base substitution A G 5_prime_UTR_variant LINC-JP 4 89300065 89300065 single base substitution A G upstream_gene_variant LINC-JP 4 89319375 89319375 single base substitution T A downstream_gene_variant LINC-JP 4 89319375 89319375 single base substitution T A intron_variant LINC-JP 4 89322752 89322752 single base substitution G T downstream_gene_variant LINC-JP 4 89322752 89322752 single base substitution G T intron_variant LINC-JP 4 89324048 89324048 single base substitution G A downstream_gene_variant LINC-JP 4 89324048 89324048 single base substitution G A intron_variant LINC-JP 4 89329837 89329837 single base substitution G A downstream_gene_variant LINC-JP 4 89329837 89329837 single base substitution G A intron_variant LINC-JP 4 89335425 89335425 single base substitution G A intron_variant LINC-JP 4 89338957 89338957 single base substitution A C intron_variant LINC-JP 4 89352893 89352893 single base substitution C A intron_variant LINC-JP 4 89354955 89354955 single base substitution C G intron_variant LINC-JP 4 89356849 89356849 deletion of <=200bp C - intron_variant LINC-JP 4 89356849 89356849 deletion of <=200bp C - upstream_gene_variant LIRI-JP 4 89299868 89299868 single base substitution C G upstream_gene_variant LIRI-JP 4 89302427 89302427 single base substitution G T intron_variant LIRI-JP 4 89303540 89303540 single base substitution C G intron_variant LIRI-JP 4 89303557 89303557 single base substitution T A intron_variant LIRI-JP 4 89304123 89304123 single base substitution C T intron_variant LIRI-JP 4 89306457 89306457 single base substitution A G intron_variant LIRI-JP 4 89307059 89307059 single base substitution C T intron_variant LIRI-JP 4 89307059 89307059 single base substitution C T upstream_gene_variant LIRI-JP 4 89307506 89307506 single base substitution C T intron_variant LIRI-JP 4 89307506 89307506 single base substitution C T upstream_gene_variant LIRI-JP 4 89309769 89309769 single base substitution G T intron_variant LIRI-JP 4 89309769 89309769 single base substitution G T upstream_gene_variant LIRI-JP 4 89312703 89312703 single base substitution G A downstream_gene_variant LIRI-JP 4 89312703 89312703 single base substitution G A intron_variant LIRI-JP 4 89315711 89315711 single base substitution T A downstream_gene_variant LIRI-JP 4 89315711 89315711 single base substitution T A intron_variant LIRI-JP 4 89316255 89316255 single base substitution A G downstream_gene_variant LIRI-JP 4 89316255 89316255 single base substitution A G intron_variant LIRI-JP 4 89317065 89317066 deletion of <=200bp CA - intron_variant LIRI-JP 4 89320441 89320441 single base substitution A G downstream_gene_variant LIRI-JP 4 89320441 89320441 single base substitution A G exon_variant LIRI-JP 4 89320441 89320441 single base substitution A G intron_variant LIRI-JP 4 89321499 89321499 single base substitution G A downstream_gene_variant LIRI-JP 4 89321499 89321499 single base substitution G A intron_variant LIRI-JP 4 89321704 89321704 single base substitution T G downstream_gene_variant LIRI-JP 4 89321704 89321704 single base substitution T G intron_variant LIRI-JP 4 89325673 89325673 single base substitution C T downstream_gene_variant LIRI-JP 4 89325673 89325673 single base substitution C T intron_variant LIRI-JP 4 89326163 89326163 single base substitution A T exon_variant LIRI-JP 4 89326163 89326163 single base substitution A T intron_variant LIRI-JP 4 89326514 89326514 single base substitution T G downstream_gene_variant LIRI-JP 4 89326514 89326514 single base substitution T G intron_variant LIRI-JP 4 89327224 89327224 single base substitution A G downstream_gene_variant LIRI-JP 4 89327224 89327224 single base substitution A G intron_variant LIRI-JP 4 89327580 89327580 single base substitution A G downstream_gene_variant LIRI-JP 4 89327580 89327580 single base substitution A G intron_variant LIRI-JP 4 89329345 89329345 single base substitution G C downstream_gene_variant LIRI-JP 4 89329345 89329345 single base substitution G C intron_variant LIRI-JP 4 89329807 89329807 single base substitution C T downstream_gene_variant LIRI-JP 4 89329807 89329807 single base substitution C T intron_variant LIRI-JP 4 89330115 89330115 single base substitution A G downstream_gene_variant LIRI-JP 4 89330115 89330115 single base substitution A G intron_variant LIRI-JP 4 89330789 89330789 deletion of <=200bp C - downstream_gene_variant LIRI-JP 4 89330789 89330789 deletion of <=200bp C - intron_variant LIRI-JP 4 89333608 89333608 single base substitution A C intron_variant LIRI-JP 4 89336902 89336902 single base substitution A G intron_variant LIRI-JP 4 89338827 89338827 single base substitution C G intron_variant LIRI-JP 4 89341688 89341688 single base substitution A G intron_variant LIRI-JP 4 89342394 89342394 single base substitution G A intron_variant LIRI-JP 4 89342810 89342810 single base substitution C A intron_variant LIRI-JP 4 89344838 89344838 single base substitution A G intron_variant LIRI-JP 4 89348935 89348935 single base substitution A G intron_variant LIRI-JP 4 89352295 89352295 single base substitution C A intron_variant LIRI-JP 4 89354098 89354098 single base substitution G A intron_variant LIRI-JP 4 89354729 89354729 single base substitution C G intron_variant LIRI-JP 4 89357416 89357416 single base substitution G A intron_variant LIRI-JP 4 89357416 89357416 single base substitution G A upstream_gene_variant LIRI-JP 4 89363048 89363048 single base substitution G T downstream_gene_variant LIRI-JP 4 89363048 89363048 single base substitution G T intron_variant LIRI-JP 4 89363616 89363616 single base substitution C T 3_prime_UTR_variant LIRI-JP 4 89363616 89363616 single base substitution C T downstream_gene_variant LIRI-JP 4 89365708 89365708 single base substitution T A downstream_gene_variant LUSC-KR 4 89306511 89306511 single base substitution A C intron_variant LUSC-KR 4 89306530 89306530 single base substitution A G intron_variant LUSC-KR 4 89324509 89324509 single base substitution C G downstream_gene_variant LUSC-KR 4 89324509 89324509 single base substitution C G intron_variant LUSC-KR 4 89326956 89326956 single base substitution T G downstream_gene_variant LUSC-KR 4 89326956 89326956 single base substitution T G intron_variant LUSC-KR 4 89327260 89327260 single base substitution C G downstream_gene_variant LUSC-KR 4 89327260 89327260 single base substitution C G intron_variant LUSC-KR 4 89333217 89333217 single base substitution G T intron_variant LUSC-KR 4 89334048 89334048 single base substitution A G intron_variant LUSC-KR 4 89341227 89341227 single base substitution A G intron_variant LUSC-KR 4 89342618 89342618 single base substitution G T intron_variant LUSC-KR 4 89342733 89342733 single base substitution G C intron_variant LUSC-KR 4 89343578 89343578 single base substitution G A intron_variant LUSC-KR 4 89344294 89344294 single base substitution G T intron_variant LUSC-KR 4 89357524 89357524 single base substitution G T intron_variant LUSC-KR 4 89357524 89357524 single base substitution G T upstream_gene_variant LUSC-KR 4 89358642 89358642 single base substitution A T intron_variant LUSC-KR 4 89358642 89358642 single base substitution A T upstream_gene_variant LUSC-KR 4 89359277 89359277 single base substitution C A intron_variant LUSC-KR 4 89359277 89359277 single base substitution C A upstream_gene_variant LUSC-KR 4 89364696 89364696 single base substitution C G downstream_gene_variant LUSC-KR 4 89367095 89367095 single base substitution G T downstream_gene_variant LUSC-US 4 89317227 89317227 single base substitution C A exon_variant LUSC-US 4 89317227 89317227 single base substitution C A missense_variant P274T 820C>A LUSC-US 4 89326086 89326086 single base substitution A T exon_variant LUSC-US 4 89326086 89326086 single base substitution A T missense_variant Q384L 1151A>T LUSC-US 4 89352393 89352393 single base substitution C G missense_variant T693S 2078C>G LUSC-US 4 89352393 89352393 single base substitution C G missense_variant T729S 2186C>G LUSC-US 4 89358063 89358063 single base substitution G A synonymous_variant L772L 2316G>A LUSC-US 4 89358063 89358063 single base substitution G A synonymous_variant L808L 2424G>A LUSC-US 4 89358063 89358063 single base substitution G A upstream_gene_variant LUSC-US 4 89361102 89361102 single base substitution G C exon_variant LUSC-US 4 89361102 89361102 single base substitution G C missense_variant G842R 2524G>C LUSC-US 4 89361102 89361102 single base substitution G C missense_variant G878R 2632G>C LUSC-US 4 89363384 89363384 single base substitution A G downstream_gene_variant LUSC-US 4 89363384 89363384 single base substitution A G splice_acceptor_variant LUSC-US 4 89363429 89363429 single base substitution G C downstream_gene_variant LUSC-US 4 89363429 89363429 single base substitution G C missense_variant Q926H 2778G>C LUSC-US 4 89363429 89363429 single base substitution G C missense_variant Q962H 2886G>C MALY-DE 4 89297971 89297971 single base substitution A C upstream_gene_variant MALY-DE 4 89314855 89314855 single base substitution C T downstream_gene_variant MALY-DE 4 89314855 89314855 single base substitution C T intron_variant MALY-DE 4 89315681 89315683 deletion of <=200bp ATT - downstream_gene_variant MALY-DE 4 89315681 89315683 deletion of <=200bp ATT - intron_variant MALY-DE 4 89320645 89320645 single base substitution C T downstream_gene_variant MALY-DE 4 89320645 89320645 single base substitution C T exon_variant MALY-DE 4 89320645 89320645 single base substitution C T intron_variant MALY-DE 4 89320905 89320905 single base substitution G A downstream_gene_variant MALY-DE 4 89320905 89320905 single base substitution G A exon_variant MALY-DE 4 89320905 89320905 single base substitution G A intron_variant MALY-DE 4 89322889 89322889 single base substitution A C downstream_gene_variant MALY-DE 4 89322889 89322889 single base substitution A C intron_variant MALY-DE 4 89346615 89346615 single base substitution C T intron_variant MALY-DE 4 89363791 89363791 single base substitution A T 3_prime_UTR_variant MALY-DE 4 89363791 89363791 single base substitution A T downstream_gene_variant MALY-DE 4 89366840 89366840 single base substitution C A downstream_gene_variant MELA-AU 4 89295110 89295110 single base substitution C T upstream_gene_variant MELA-AU 4 89296172 89296172 single base substitution A T upstream_gene_variant MELA-AU 4 89296930 89296930 single base substitution A G upstream_gene_variant MELA-AU 4 89297514 89297514 single base substitution G A upstream_gene_variant MELA-AU 4 89297836 89297836 single base substitution C T upstream_gene_variant MELA-AU 4 89297998 89297998 single base substitution A T upstream_gene_variant MELA-AU 4 89298119 89298119 single base substitution C T upstream_gene_variant MELA-AU 4 89298422 89298422 single base substitution C T upstream_gene_variant MELA-AU 4 89299593 89299604 deletion of <=200bp CAAACAAACAAA - upstream_gene_variant MELA-AU 4 89299652 89299652 single base substitution C T upstream_gene_variant MELA-AU 4 89299769 89299769 single base substitution C T upstream_gene_variant MELA-AU 4 89301813 89301813 single base substitution G A intron_variant MELA-AU 4 89301923 89301923 single base substitution C T intron_variant MELA-AU 4 89302177 89302177 single base substitution T G intron_variant MELA-AU 4 89302220 89302220 single base substitution C T intron_variant MELA-AU 4 89302229 89302229 single base substitution G A intron_variant MELA-AU 4 89302244 89302244 single base substitution C T intron_variant MELA-AU 4 89302943 89302943 single base substitution C T intron_variant MELA-AU 4 89303011 89303011 single base substitution C T intron_variant MELA-AU 4 89303616 89303616 single base substitution G A intron_variant MELA-AU 4 89304049 89304049 single base substitution C T intron_variant MELA-AU 4 89304739 89304739 single base substitution C T intron_variant MELA-AU 4 89305496 89305496 single base substitution G A intron_variant MELA-AU 4 89305563 89305563 single base substitution C T intron_variant MELA-AU 4 89305619 89305619 single base substitution C T intron_variant MELA-AU 4 89305682 89305682 single base substitution G A intron_variant MELA-AU 4 89305969 89305969 single base substitution C T intron_variant MELA-AU 4 89306098 89306098 single base substitution C T intron_variant MELA-AU 4 89306129 89306129 single base substitution C T intron_variant MELA-AU 4 89307260 89307260 single base substitution C T intron_variant MELA-AU 4 89307260 89307260 single base substitution C T upstream_gene_variant MELA-AU 4 89307261 89307261 single base substitution C T intron_variant MELA-AU 4 89307261 89307261 single base substitution C T upstream_gene_variant MELA-AU 4 89307446 89307446 single base substitution C T intron_variant MELA-AU 4 89307446 89307446 single base substitution C T upstream_gene_variant MELA-AU 4 89307554 89307554 single base substitution C T intron_variant MELA-AU 4 89307554 89307554 single base substitution C T upstream_gene_variant MELA-AU 4 89308308 89308308 single base substitution G A intron_variant MELA-AU 4 89308308 89308308 single base substitution G A upstream_gene_variant MELA-AU 4 89308565 89308565 single base substitution G A intron_variant MELA-AU 4 89308565 89308565 single base substitution G A upstream_gene_variant MELA-AU 4 89311703 89311703 single base substitution C T intron_variant MELA-AU 4 89311703 89311703 single base substitution C T upstream_gene_variant MELA-AU 4 89311793 89311793 single base substitution C T intron_variant MELA-AU 4 89311793 89311793 single base substitution C T upstream_gene_variant MELA-AU 4 89312314 89312314 single base substitution C T downstream_gene_variant MELA-AU 4 89312314 89312314 single base substitution C T intron_variant MELA-AU 4 89313336 89313336 single base substitution C T downstream_gene_variant MELA-AU 4 89313336 89313336 single base substitution C T intron_variant MELA-AU 4 89314004 89314004 single base substitution C T downstream_gene_variant MELA-AU 4 89314004 89314004 single base substitution C T intron_variant MELA-AU 4 89314351 89314351 single base substitution C T downstream_gene_variant MELA-AU 4 89314351 89314351 single base substitution C T intron_variant MELA-AU 4 89314835 89314835 single base substitution G A downstream_gene_variant MELA-AU 4 89314835 89314835 single base substitution G A intron_variant MELA-AU 4 89315727 89315727 single base substitution C T downstream_gene_variant MELA-AU 4 89315727 89315727 single base substitution C T intron_variant MELA-AU 4 89315938 89315938 single base substitution C T downstream_gene_variant MELA-AU 4 89315938 89315938 single base substitution C T intron_variant MELA-AU 4 89315957 89315957 single base substitution A C downstream_gene_variant MELA-AU 4 89315957 89315957 single base substitution A C intron_variant MELA-AU 4 89318238 89318238 single base substitution C T intron_variant MELA-AU 4 89318463 89318463 single base substitution C T intron_variant MELA-AU 4 89318786 89318786 single base substitution T C intron_variant MELA-AU 4 89318798 89318798 single base substitution G A intron_variant MELA-AU 4 89318825 89318825 single base substitution G A intron_variant MELA-AU 4 89318855 89318855 single base substitution T A intron_variant MELA-AU 4 89319135 89319135 single base substitution G A intron_variant MELA-AU 4 89319479 89319479 single base substitution C T downstream_gene_variant MELA-AU 4 89319479 89319479 single base substitution C T intron_variant MELA-AU 4 89319727 89319727 single base substitution A C downstream_gene_variant MELA-AU 4 89319727 89319727 single base substitution A C exon_variant MELA-AU 4 89319727 89319727 single base substitution A C intron_variant MELA-AU 4 89319961 89319961 single base substitution G A downstream_gene_variant MELA-AU 4 89319961 89319961 single base substitution G A exon_variant MELA-AU 4 89319961 89319961 single base substitution G A intron_variant MELA-AU 4 89320023 89320023 single base substitution C T downstream_gene_variant MELA-AU 4 89320023 89320023 single base substitution C T exon_variant MELA-AU 4 89320023 89320023 single base substitution C T intron_variant MELA-AU 4 89320271 89320271 single base substitution C T downstream_gene_variant MELA-AU 4 89320271 89320271 single base substitution C T exon_variant MELA-AU 4 89320271 89320271 single base substitution C T intron_variant MELA-AU 4 89320720 89320720 single base substitution C T downstream_gene_variant MELA-AU 4 89320720 89320720 single base substitution C T exon_variant MELA-AU 4 89320720 89320720 single base substitution C T intron_variant MELA-AU 4 89320786 89320786 single base substitution G A downstream_gene_variant MELA-AU 4 89320786 89320786 single base substitution G A exon_variant MELA-AU 4 89320786 89320786 single base substitution G A intron_variant MELA-AU 4 89320876 89320876 single base substitution C T downstream_gene_variant MELA-AU 4 89320876 89320876 single base substitution C T exon_variant MELA-AU 4 89320876 89320876 single base substitution C T intron_variant MELA-AU 4 89321032 89321033 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 89321032 89321033 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 89322241 89322241 single base substitution G A downstream_gene_variant MELA-AU 4 89322241 89322241 single base substitution G A intron_variant MELA-AU 4 89322312 89322312 single base substitution G A downstream_gene_variant MELA-AU 4 89322312 89322312 single base substitution G A intron_variant MELA-AU 4 89322872 89322872 single base substitution C T downstream_gene_variant MELA-AU 4 89322872 89322872 single base substitution C T intron_variant MELA-AU 4 89322877 89322877 single base substitution C T downstream_gene_variant MELA-AU 4 89322877 89322877 single base substitution C T intron_variant MELA-AU 4 89323056 89323056 single base substitution C T downstream_gene_variant MELA-AU 4 89323056 89323056 single base substitution C T intron_variant MELA-AU 4 89323935 89323935 insertion of <=200bp - T downstream_gene_variant MELA-AU 4 89323935 89323935 insertion of <=200bp - T intron_variant MELA-AU 4 89325116 89325116 single base substitution C T downstream_gene_variant MELA-AU 4 89325116 89325116 single base substitution C T intron_variant MELA-AU 4 89325208 89325208 single base substitution C T downstream_gene_variant MELA-AU 4 89325208 89325208 single base substitution C T intron_variant MELA-AU 4 89325241 89325241 single base substitution C T downstream_gene_variant MELA-AU 4 89325241 89325241 single base substitution C T intron_variant MELA-AU 4 89325255 89325255 single base substitution C T downstream_gene_variant MELA-AU 4 89325255 89325255 single base substitution C T intron_variant MELA-AU 4 89325520 89325520 single base substitution T C downstream_gene_variant MELA-AU 4 89325520 89325520 single base substitution T C intron_variant MELA-AU 4 89325767 89325767 single base substitution G A downstream_gene_variant MELA-AU 4 89325767 89325767 single base substitution G A intron_variant MELA-AU 4 89325924 89325924 single base substitution A G intron_variant MELA-AU 4 89326440 89326440 single base substitution C T downstream_gene_variant MELA-AU 4 89326440 89326440 single base substitution C T intron_variant MELA-AU 4 89326820 89326820 single base substitution G A downstream_gene_variant MELA-AU 4 89326820 89326820 single base substitution G A intron_variant MELA-AU 4 89327435 89327435 single base substitution C T downstream_gene_variant MELA-AU 4 89327435 89327435 single base substitution C T intron_variant MELA-AU 4 89327507 89327508 multiple base substitution (>=2bp and <=200bp) GC TT downstream_gene_variant MELA-AU 4 89327507 89327508 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU 4 89327880 89327881 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 89327880 89327881 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 89328228 89328228 deletion of <=200bp T - downstream_gene_variant MELA-AU 4 89328228 89328228 deletion of <=200bp T - intron_variant MELA-AU 4 89328296 89328296 single base substitution C T downstream_gene_variant MELA-AU 4 89328296 89328296 single base substitution C T intron_variant MELA-AU 4 89328372 89328372 single base substitution G A downstream_gene_variant MELA-AU 4 89328372 89328372 single base substitution G A intron_variant MELA-AU 4 89328643 89328643 single base substitution C T downstream_gene_variant MELA-AU 4 89328643 89328643 single base substitution C T intron_variant MELA-AU 4 89329221 89329221 single base substitution C T downstream_gene_variant MELA-AU 4 89329221 89329221 single base substitution C T intron_variant MELA-AU 4 89329269 89329269 single base substitution C T downstream_gene_variant MELA-AU 4 89329269 89329269 single base substitution C T intron_variant MELA-AU 4 89329343 89329343 single base substitution G A downstream_gene_variant MELA-AU 4 89329343 89329343 single base substitution G A intron_variant MELA-AU 4 89329875 89329875 single base substitution C T downstream_gene_variant MELA-AU 4 89329875 89329875 single base substitution C T intron_variant MELA-AU 4 89329902 89329902 single base substitution C T downstream_gene_variant MELA-AU 4 89329902 89329902 single base substitution C T intron_variant MELA-AU 4 89329978 89329978 single base substitution A G downstream_gene_variant MELA-AU 4 89329978 89329978 single base substitution A G intron_variant MELA-AU 4 89329986 89329986 single base substitution T C downstream_gene_variant MELA-AU 4 89329986 89329986 single base substitution T C intron_variant MELA-AU 4 89330039 89330039 single base substitution G A downstream_gene_variant MELA-AU 4 89330039 89330039 single base substitution G A intron_variant MELA-AU 4 89330061 89330061 single base substitution T G downstream_gene_variant MELA-AU 4 89330061 89330061 single base substitution T G intron_variant MELA-AU 4 89330361 89330361 single base substitution T G downstream_gene_variant MELA-AU 4 89330361 89330361 single base substitution T G intron_variant MELA-AU 4 89330794 89330794 single base substitution G A downstream_gene_variant MELA-AU 4 89330794 89330794 single base substitution G A intron_variant MELA-AU 4 89330886 89330886 single base substitution C T downstream_gene_variant MELA-AU 4 89330886 89330886 single base substitution C T intron_variant MELA-AU 4 89331129 89331129 single base substitution A T downstream_gene_variant MELA-AU 4 89331129 89331129 single base substitution A T intron_variant MELA-AU 4 89331645 89331645 single base substitution C T intron_variant MELA-AU 4 89331834 89331834 single base substitution G A intron_variant MELA-AU 4 89332582 89332582 single base substitution T A intron_variant MELA-AU 4 89333426 89333426 single base substitution T G intron_variant MELA-AU 4 89333944 89333944 single base substitution C T intron_variant MELA-AU 4 89334095 89334095 single base substitution G A intron_variant MELA-AU 4 89334464 89334464 single base substitution C T intron_variant MELA-AU 4 89335222 89335222 single base substitution G A intron_variant MELA-AU 4 89336386 89336387 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 89336504 89336504 single base substitution G A intron_variant MELA-AU 4 89338917 89338917 single base substitution G A intron_variant MELA-AU 4 89339664 89339664 single base substitution G A intron_variant MELA-AU 4 89340373 89340373 single base substitution T C intron_variant MELA-AU 4 89340787 89340787 single base substitution C T intron_variant MELA-AU 4 89341318 89341318 single base substitution C T intron_variant MELA-AU 4 89343277 89343277 single base substitution C T intron_variant MELA-AU 4 89344480 89344480 single base substitution C T intron_variant MELA-AU 4 89345398 89345398 single base substitution G A intron_variant MELA-AU 4 89345600 89345600 single base substitution C T intron_variant MELA-AU 4 89346081 89346081 single base substitution G A intron_variant MELA-AU 4 89346231 89346231 single base substitution C T intron_variant MELA-AU 4 89346719 89346719 single base substitution A T intron_variant MELA-AU 4 89347632 89347632 single base substitution T C intron_variant MELA-AU 4 89347635 89347635 single base substitution C T intron_variant MELA-AU 4 89348906 89348906 single base substitution G A intron_variant MELA-AU 4 89349215 89349215 single base substitution C T intron_variant MELA-AU 4 89350712 89350712 single base substitution C T intron_variant MELA-AU 4 89350989 89350989 single base substitution G A intron_variant MELA-AU 4 89351536 89351536 single base substitution C G intron_variant MELA-AU 4 89351676 89351676 single base substitution C T intron_variant MELA-AU 4 89351722 89351722 insertion of <=200bp - AAAT intron_variant MELA-AU 4 89352778 89352778 single base substitution A C intron_variant MELA-AU 4 89353501 89353501 single base substitution A G intron_variant MELA-AU 4 89353719 89353719 single base substitution A T intron_variant MELA-AU 4 89354364 89354364 single base substitution C T intron_variant MELA-AU 4 89357248 89357248 single base substitution G A intron_variant MELA-AU 4 89357248 89357248 single base substitution G A upstream_gene_variant MELA-AU 4 89357454 89357454 single base substitution G A intron_variant MELA-AU 4 89357454 89357454 single base substitution G A upstream_gene_variant MELA-AU 4 89358178 89358178 single base substitution T G intron_variant MELA-AU 4 89358178 89358178 single base substitution T G upstream_gene_variant MELA-AU 4 89358569 89358569 single base substitution T G intron_variant MELA-AU 4 89358569 89358569 single base substitution T G upstream_gene_variant MELA-AU 4 89359458 89359458 single base substitution C T intron_variant MELA-AU 4 89359458 89359458 single base substitution C T upstream_gene_variant MELA-AU 4 89360547 89360547 single base substitution A T intron_variant MELA-AU 4 89360547 89360547 single base substitution A T upstream_gene_variant MELA-AU 4 89361443 89361443 single base substitution T A exon_variant MELA-AU 4 89361443 89361443 single base substitution T A intron_variant MELA-AU 4 89362634 89362634 single base substitution C T downstream_gene_variant MELA-AU 4 89362634 89362634 single base substitution C T intron_variant MELA-AU 4 89363722 89363722 single base substitution G A 3_prime_UTR_variant MELA-AU 4 89363722 89363722 single base substitution G A downstream_gene_variant MELA-AU 4 89365581 89365581 single base substitution T G downstream_gene_variant MELA-AU 4 89365584 89365585 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 89366132 89366132 single base substitution G A downstream_gene_variant MELA-AU 4 89366163 89366163 single base substitution C T downstream_gene_variant MELA-AU 4 89366423 89366423 single base substitution G A downstream_gene_variant MELA-AU 4 89367324 89367324 single base substitution C T downstream_gene_variant MELA-AU 4 89367724 89367725 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 89368051 89368051 single base substitution G A downstream_gene_variant ORCA-IN 4 89323158 89323158 single base substitution G C downstream_gene_variant ORCA-IN 4 89323158 89323158 single base substitution G C intron_variant ORCA-IN 4 89324510 89324510 single base substitution A G downstream_gene_variant ORCA-IN 4 89324510 89324510 single base substitution A G intron_variant OV-AU 4 89296262 89296262 single base substitution G C upstream_gene_variant OV-AU 4 89301290 89301290 single base substitution T A intron_variant OV-AU 4 89301545 89301545 single base substitution A C intron_variant OV-AU 4 89306499 89306499 single base substitution G T intron_variant OV-AU 4 89310782 89310782 single base substitution A T intron_variant OV-AU 4 89310782 89310782 single base substitution A T upstream_gene_variant OV-AU 4 89317801 89317801 single base substitution A C intron_variant OV-AU 4 89324199 89324199 single base substitution T C downstream_gene_variant OV-AU 4 89324199 89324199 single base substitution T C intron_variant OV-AU 4 89326306 89326306 single base substitution A T downstream_gene_variant OV-AU 4 89326306 89326306 single base substitution A T intron_variant OV-AU 4 89328248 89328248 single base substitution G C downstream_gene_variant OV-AU 4 89328248 89328248 single base substitution G C intron_variant OV-AU 4 89337259 89337259 single base substitution G T intron_variant OV-AU 4 89341632 89341632 single base substitution G A intron_variant OV-AU 4 89344518 89344518 single base substitution G T intron_variant OV-AU 4 89351033 89351033 single base substitution T C intron_variant OV-AU 4 89359532 89359532 single base substitution A C intron_variant OV-AU 4 89359532 89359532 single base substitution A C upstream_gene_variant OV-AU 4 89365862 89365862 single base substitution A T downstream_gene_variant OV-AU 4 89368732 89368732 single base substitution C A downstream_gene_variant PACA-AU 4 89297266 89297266 single base substitution G T upstream_gene_variant PACA-AU 4 89303205 89303205 deletion of <=200bp C - intron_variant PACA-AU 4 89305365 89305365 single base substitution C T intron_variant PACA-AU 4 89313969 89313969 single base substitution C T downstream_gene_variant PACA-AU 4 89313969 89313969 single base substitution C T intron_variant PACA-AU 4 89329845 89329845 single base substitution G A downstream_gene_variant PACA-AU 4 89329845 89329845 single base substitution G A intron_variant PACA-AU 4 89332487 89332487 single base substitution G A intron_variant PACA-AU 4 89338211 89338211 single base substitution G A intron_variant PACA-AU 4 89339004 89339004 single base substitution G A intron_variant PACA-AU 4 89349756 89349756 single base substitution C G missense_variant L618V 1852C>G PACA-AU 4 89349756 89349756 single base substitution C G missense_variant L654V 1960C>G PACA-AU 4 89349840 89349840 single base substitution G A missense_variant V646I 1936G>A PACA-AU 4 89349840 89349840 single base substitution G A missense_variant V682I 2044G>A PACA-AU 4 89352482 89352482 deletion of <=200bp C - intron_variant PACA-AU 4 89353548 89353548 single base substitution G A intron_variant PACA-AU 4 89363671 89363671 single base substitution A G 3_prime_UTR_variant PACA-AU 4 89363671 89363671 single base substitution A G downstream_gene_variant PACA-AU 4 89364570 89364570 single base substitution G A downstream_gene_variant PACA-CA 4 89297085 89297085 single base substitution G C upstream_gene_variant PACA-CA 4 89304816 89304816 single base substitution G A intron_variant PACA-CA 4 89309431 89309431 single base substitution G A intron_variant PACA-CA 4 89309431 89309431 single base substitution G A upstream_gene_variant PACA-CA 4 89309841 89309841 single base substitution G A intron_variant PACA-CA 4 89309841 89309841 single base substitution G A upstream_gene_variant PACA-CA 4 89311717 89311717 insertion of <=200bp - A intron_variant PACA-CA 4 89311717 89311717 insertion of <=200bp - A upstream_gene_variant PACA-CA 4 89312044 89312044 single base substitution T C downstream_gene_variant PACA-CA 4 89312044 89312044 single base substitution T C intron_variant PACA-CA 4 89317718 89317718 single base substitution A C intron_variant PACA-CA 4 89319613 89319613 single base substitution A C downstream_gene_variant PACA-CA 4 89319613 89319613 single base substitution A C exon_variant PACA-CA 4 89319613 89319613 single base substitution A C intron_variant PACA-CA 4 89319736 89319736 single base substitution G A downstream_gene_variant PACA-CA 4 89319736 89319736 single base substitution G A exon_variant PACA-CA 4 89319736 89319736 single base substitution G A intron_variant PACA-CA 4 89320490 89320490 single base substitution G C downstream_gene_variant PACA-CA 4 89320490 89320490 single base substitution G C exon_variant PACA-CA 4 89320490 89320490 single base substitution G C intron_variant PACA-CA 4 89334774 89334774 deletion of <=200bp T - intron_variant PACA-CA 4 89338538 89338538 single base substitution G T intron_variant PACA-CA 4 89348161 89348161 single base substitution A G intron_variant PACA-CA 4 89355115 89355115 single base substitution G A intron_variant PACA-CA 4 89357603 89357617 deletion of <=200bp CCTTGGCAATACTGA - intron_variant PACA-CA 4 89357603 89357617 deletion of <=200bp CCTTGGCAATACTGA - upstream_gene_variant PACA-CA 4 89360965 89360965 single base substitution C T intron_variant PACA-CA 4 89360965 89360965 single base substitution C T upstream_gene_variant PACA-CA 4 89361106 89361106 single base substitution T C exon_variant PACA-CA 4 89361106 89361106 single base substitution T C missense_variant F843S 2528T>C PACA-CA 4 89361106 89361106 single base substitution T C missense_variant F879S 2636T>C PACA-CA 4 89362544 89362544 single base substitution C T downstream_gene_variant PACA-CA 4 89362544 89362544 single base substitution C T intron_variant PACA-CA 4 89363169 89363169 single base substitution C G downstream_gene_variant PACA-CA 4 89363169 89363169 single base substitution C G intron_variant PAEN-AU 4 89308886 89308886 single base substitution G A intron_variant PAEN-AU 4 89308886 89308886 single base substitution G A upstream_gene_variant PAEN-IT 4 89324010 89324010 single base substitution G T downstream_gene_variant PAEN-IT 4 89324010 89324010 single base substitution G T intron_variant PAEN-IT 4 89336780 89336780 single base substitution C A intron_variant PAEN-IT 4 89345673 89345673 single base substitution C T intron_variant PBCA-DE 4 89295219 89295219 single base substitution C A upstream_gene_variant PBCA-DE 4 89299206 89299206 single base substitution G T upstream_gene_variant PBCA-DE 4 89304872 89304872 single base substitution C T intron_variant PBCA-DE 4 89306659 89306659 single base substitution T C 3_prime_UTR_variant PBCA-DE 4 89306659 89306659 single base substitution T C exon_variant PBCA-DE 4 89306659 89306659 single base substitution T C missense_variant M123T 368T>C PBCA-DE 4 89306659 89306659 single base substitution T C missense_variant M87T 260T>C PBCA-DE 4 89310763 89310763 single base substitution G T intron_variant PBCA-DE 4 89310763 89310763 single base substitution G T upstream_gene_variant PBCA-DE 4 89316934 89316934 deletion of <=200bp C - downstream_gene_variant PBCA-DE 4 89316934 89316934 deletion of <=200bp C - intron_variant PBCA-DE 4 89322262 89322262 single base substitution G A downstream_gene_variant PBCA-DE 4 89322262 89322262 single base substitution G A intron_variant PBCA-DE 4 89330897 89330897 single base substitution G T downstream_gene_variant PBCA-DE 4 89330897 89330897 single base substitution G T intron_variant PBCA-DE 4 89335508 89335508 single base substitution G A intron_variant PBCA-DE 4 89346947 89346947 deletion of <=200bp T - intron_variant PBCA-DE 4 89349984 89349984 single base substitution G A intron_variant PBCA-DE 4 89356774 89356774 single base substitution T G intron_variant PBCA-DE 4 89356774 89356774 single base substitution T G upstream_gene_variant PBCA-DE 4 89365792 89365792 insertion of <=200bp - T downstream_gene_variant PBCA-DE 4 89366691 89366691 insertion of <=200bp - A downstream_gene_variant PRAD-CA 4 89304411 89304411 single base substitution G A 3_prime_UTR_variant PRAD-CA 4 89304411 89304411 single base substitution G A exon_variant PRAD-CA 4 89304411 89304411 single base substitution G A missense_variant V44M 130G>A PRAD-CA 4 89304411 89304411 single base substitution G A missense_variant V80M 238G>A PRAD-CA 4 89316640 89316640 single base substitution G A downstream_gene_variant PRAD-CA 4 89316640 89316640 single base substitution G A intron_variant PRAD-CA 4 89331685 89331685 single base substitution C G intron_variant PRAD-CA 4 89332750 89332750 single base substitution T G intron_variant PRAD-CA 4 89332914 89332914 single base substitution T G intron_variant PRAD-UK 4 89325907 89325907 single base substitution C A downstream_gene_variant PRAD-UK 4 89325907 89325907 single base substitution C A intron_variant PRAD-UK 4 89347664 89347664 single base substitution C T intron_variant PRAD-UK 4 89347919 89347919 single base substitution C T intron_variant PRAD-UK 4 89348312 89348312 single base substitution C G intron_variant PRAD-UK 4 89365524 89365524 single base substitution C A downstream_gene_variant PRAD-UK 4 89366823 89366826 deletion of <=200bp AATC - downstream_gene_variant PRAD-UK 4 89367572 89367572 insertion of <=200bp - T downstream_gene_variant READ-US 4 89300247 89300247 single base substitution G A exon_variant READ-US 4 89300247 89300247 single base substitution G A synonymous_variant R10R 30G>A READ-US 4 89300247 89300247 single base substitution G A synonymous_variant R58R 174G>A READ-US 4 89329691 89329691 single base substitution G A downstream_gene_variant READ-US 4 89329691 89329691 single base substitution G A synonymous_variant T430T 1290G>A READ-US 4 89345799 89345799 single base substitution T G intron_variant READ-US 4 89345799 89345799 single base substitution T G missense_variant F627C 1880T>G RECA-EU 4 89298287 89298287 single base substitution T C upstream_gene_variant RECA-EU 4 89306618 89306618 single base substitution G A intron_variant RECA-EU 4 89315456 89315456 single base substitution C T downstream_gene_variant RECA-EU 4 89315456 89315456 single base substitution C T intron_variant RECA-EU 4 89318515 89318515 single base substitution C G intron_variant RECA-EU 4 89320720 89320720 single base substitution C T downstream_gene_variant RECA-EU 4 89320720 89320720 single base substitution C T exon_variant RECA-EU 4 89320720 89320720 single base substitution C T intron_variant RECA-EU 4 89329559 89329559 single base substitution A T downstream_gene_variant RECA-EU 4 89329559 89329559 single base substitution A T intron_variant RECA-EU 4 89332652 89332652 single base substitution A T intron_variant RECA-EU 4 89336931 89336931 single base substitution C T intron_variant RECA-EU 4 89338617 89338617 single base substitution G A synonymous_variant P533P 1599G>A RECA-EU 4 89350213 89350213 single base substitution G A intron_variant RECA-EU 4 89352043 89352043 single base substitution A T intron_variant RECA-EU 4 89353907 89353907 single base substitution A G intron_variant SKCA-BR 4 89295536 89295536 single base substitution C T upstream_gene_variant SKCA-BR 4 89296268 89296268 single base substitution G A upstream_gene_variant SKCA-BR 4 89296603 89296603 single base substitution C T upstream_gene_variant SKCA-BR 4 89297098 89297098 single base substitution G C upstream_gene_variant SKCA-BR 4 89300641 89300641 single base substitution T A intron_variant SKCA-BR 4 89300877 89300885 deletion of <=200bp TAATATATA - intron_variant SKCA-BR 4 89301780 89301780 single base substitution A G intron_variant SKCA-BR 4 89306000 89306000 single base substitution C A intron_variant SKCA-BR 4 89306176 89306177 deletion of <=200bp GA - intron_variant SKCA-BR 4 89307233 89307233 single base substitution C T intron_variant SKCA-BR 4 89307233 89307233 single base substitution C T upstream_gene_variant SKCA-BR 4 89307369 89307369 single base substitution C T intron_variant SKCA-BR 4 89307369 89307369 single base substitution C T upstream_gene_variant SKCA-BR 4 89308532 89308532 single base substitution G A intron_variant SKCA-BR 4 89308532 89308532 single base substitution G A upstream_gene_variant SKCA-BR 4 89311118 89311118 single base substitution C T intron_variant SKCA-BR 4 89311118 89311118 single base substitution C T upstream_gene_variant SKCA-BR 4 89316909 89316909 single base substitution C A downstream_gene_variant SKCA-BR 4 89316909 89316909 single base substitution C A intron_variant SKCA-BR 4 89317633 89317633 single base substitution A T intron_variant SKCA-BR 4 89321066 89321066 single base substitution T C downstream_gene_variant SKCA-BR 4 89321066 89321066 single base substitution T C intron_variant SKCA-BR 4 89322046 89322046 single base substitution T G downstream_gene_variant SKCA-BR 4 89322046 89322046 single base substitution T G intron_variant SKCA-BR 4 89322395 89322395 single base substitution C T downstream_gene_variant SKCA-BR 4 89322395 89322395 single base substitution C T intron_variant SKCA-BR 4 89325728 89325728 single base substitution C T downstream_gene_variant SKCA-BR 4 89325728 89325728 single base substitution C T intron_variant SKCA-BR 4 89330289 89330289 single base substitution A G downstream_gene_variant SKCA-BR 4 89330289 89330289 single base substitution A G intron_variant SKCA-BR 4 89330920 89330920 single base substitution C T downstream_gene_variant SKCA-BR 4 89330920 89330920 single base substitution C T intron_variant SKCA-BR 4 89331943 89331943 single base substitution G A intron_variant SKCA-BR 4 89331944 89331944 single base substitution G A intron_variant SKCA-BR 4 89342603 89342603 insertion of <=200bp - CT intron_variant SKCA-BR 4 89343970 89343970 single base substitution A C intron_variant SKCA-BR 4 89346492 89346492 single base substitution G A intron_variant SKCA-BR 4 89349259 89349259 single base substitution G A intron_variant SKCA-BR 4 89357278 89357278 single base substitution C T intron_variant SKCA-BR 4 89357278 89357278 single base substitution C T upstream_gene_variant SKCA-BR 4 89364033 89364033 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 89364033 89364033 single base substitution C T downstream_gene_variant SKCA-BR 4 89368300 89368300 single base substitution A C downstream_gene_variant SKCM-US 4 89304376 89304376 single base substitution C T exon_variant SKCM-US 4 89304376 89304376 single base substitution C T missense_variant P32L 95C>T SKCM-US 4 89304376 89304376 single base substitution C T missense_variant P68L 203C>T SKCM-US 4 89304376 89304376 single base substitution C T splice_region_variant SKCM-US 4 89304453 89304453 single base substitution G A 3_prime_UTR_variant SKCM-US 4 89304453 89304453 single base substitution G A exon_variant SKCM-US 4 89304453 89304453 single base substitution G A missense_variant G58R 172G>A SKCM-US 4 89304453 89304453 single base substitution G A missense_variant G94R 280G>A SKCM-US 4 89311819 89311819 single base substitution C T 3_prime_UTR_variant SKCM-US 4 89311819 89311819 single base substitution C T exon_variant SKCM-US 4 89311819 89311819 single base substitution C T missense_variant S115L 344C>T SKCM-US 4 89311819 89311819 single base substitution C T missense_variant S151L 452C>T SKCM-US 4 89311819 89311819 single base substitution C T upstream_gene_variant SKCM-US 4 89311825 89311825 single base substitution G A 3_prime_UTR_variant SKCM-US 4 89311825 89311825 single base substitution G A exon_variant SKCM-US 4 89311825 89311825 single base substitution G A missense_variant G117E 350G>A SKCM-US 4 89311825 89311825 single base substitution G A missense_variant G153E 458G>A SKCM-US 4 89311825 89311825 single base substitution G A upstream_gene_variant SKCM-US 4 89326027 89326027 single base substitution G A splice_acceptor_variant SKCM-US 4 89326115 89326115 single base substitution A T exon_variant SKCM-US 4 89326115 89326115 single base substitution A T stop_gained K394* 1180A>T STAD-US 4 89311819 89311819 single base substitution C T 3_prime_UTR_variant STAD-US 4 89311819 89311819 single base substitution C T exon_variant STAD-US 4 89311819 89311819 single base substitution C T missense_variant S115L 344C>T STAD-US 4 89311819 89311819 single base substitution C T missense_variant S151L 452C>T STAD-US 4 89311819 89311819 single base substitution C T upstream_gene_variant STAD-US 4 89311835 89311835 single base substitution C T 3_prime_UTR_variant STAD-US 4 89311835 89311835 single base substitution C T exon_variant STAD-US 4 89311835 89311835 single base substitution C T synonymous_variant S120S 360C>T STAD-US 4 89311835 89311835 single base substitution C T synonymous_variant S156S 468C>T STAD-US 4 89311835 89311835 single base substitution C T upstream_gene_variant STAD-US 4 89311919 89311919 single base substitution T G downstream_gene_variant STAD-US 4 89311919 89311919 single base substitution T G exon_variant STAD-US 4 89311919 89311919 single base substitution T G synonymous_variant A148A 444T>G STAD-US 4 89311919 89311919 single base substitution T G synonymous_variant A184A 552T>G STAD-US 4 89311919 89311919 single base substitution T G upstream_gene_variant STAD-US 4 89311998 89311998 single base substitution G A downstream_gene_variant STAD-US 4 89311998 89311998 single base substitution G A exon_variant STAD-US 4 89311998 89311998 single base substitution G A missense_variant G175R 523G>A STAD-US 4 89311998 89311998 single base substitution G A missense_variant G211R 631G>A STAD-US 4 89314657 89314657 single base substitution C T downstream_gene_variant STAD-US 4 89314657 89314657 single base substitution C T exon_variant STAD-US 4 89314657 89314657 single base substitution C T missense_variant L228F 682C>T STAD-US 4 89317276 89317276 single base substitution C T exon_variant STAD-US 4 89317276 89317276 single base substitution C T missense_variant S290L 869C>T STAD-US 4 89326038 89326038 single base substitution C G exon_variant STAD-US 4 89326038 89326038 single base substitution C G missense_variant S368C 1103C>G STAD-US 4 89326069 89326069 single base substitution A C exon_variant STAD-US 4 89326069 89326069 single base substitution A C missense_variant E378D 1134A>C STAD-US 4 89326076 89326076 single base substitution C T exon_variant STAD-US 4 89326076 89326076 single base substitution C T stop_gained R381* 1141C>T STAD-US 4 89358921 89358921 single base substitution A G missense_variant D812G 2435A>G STAD-US 4 89358921 89358921 single base substitution A G missense_variant D848G 2543A>G STAD-US 4 89358921 89358921 single base substitution A G upstream_gene_variant THCA-SA 4 89300101 89300101 single base substitution A G exon_variant THCA-SA 4 89300101 89300101 single base substitution A G missense_variant R10G 28A>G THCA-SA 4 89300101 89300101 single base substitution A G upstream_gene_variant THCA-SA 4 89300241 89300241 single base substitution C A exon_variant THCA-SA 4 89300241 89300241 single base substitution C A synonymous_variant G56G 168C>A THCA-SA 4 89300241 89300241 single base substitution C A synonymous_variant G8G 24C>A THCA-SA 4 89306659 89306659 single base substitution T C 3_prime_UTR_variant THCA-SA 4 89306659 89306659 single base substitution T C exon_variant THCA-SA 4 89306659 89306659 single base substitution T C missense_variant M123T 368T>C THCA-SA 4 89306659 89306659 single base substitution T C missense_variant M87T 260T>C THCA-SA 4 89311962 89311962 single base substitution T C downstream_gene_variant THCA-SA 4 89311962 89311962 single base substitution T C exon_variant THCA-SA 4 89311962 89311962 single base substitution T C missense_variant C163R 487T>C THCA-SA 4 89311962 89311962 single base substitution T C missense_variant C199R 595T>C THCA-SA 4 89311962 89311962 single base substitution T C upstream_gene_variant UCEC-US 4 89304513 89304513 single base substitution G T 3_prime_UTR_variant UCEC-US 4 89304513 89304513 single base substitution G T exon_variant UCEC-US 4 89304513 89304513 single base substitution G T stop_gained E114* 340G>T UCEC-US 4 89304513 89304513 single base substitution G T stop_gained E78* 232G>T UCEC-US 4 89306693 89306693 single base substitution C A 3_prime_UTR_variant UCEC-US 4 89306693 89306693 single base substitution C A exon_variant UCEC-US 4 89306693 89306693 single base substitution C A synonymous_variant S134S 402C>A UCEC-US 4 89306693 89306693 single base substitution C A synonymous_variant S98S 294C>A UCEC-US 4 89311819 89311819 single base substitution C T 3_prime_UTR_variant UCEC-US 4 89311819 89311819 single base substitution C T exon_variant UCEC-US 4 89311819 89311819 single base substitution C T missense_variant S115L 344C>T UCEC-US 4 89311819 89311819 single base substitution C T missense_variant S151L 452C>T UCEC-US 4 89311819 89311819 single base substitution C T upstream_gene_variant UCEC-US 4 89311945 89311945 single base substitution G T downstream_gene_variant UCEC-US 4 89311945 89311945 single base substitution G T exon_variant UCEC-US 4 89311945 89311945 single base substitution G T missense_variant S157I 470G>T UCEC-US 4 89311945 89311945 single base substitution G T missense_variant S193I 578G>T UCEC-US 4 89311945 89311945 single base substitution G T upstream_gene_variant UCEC-US 4 89314671 89314671 single base substitution A G downstream_gene_variant UCEC-US 4 89314671 89314671 single base substitution A G exon_variant UCEC-US 4 89314671 89314671 single base substitution A G synonymous_variant A232A 696A>G UCEC-US 4 89317268 89317268 single base substitution C T exon_variant UCEC-US 4 89317268 89317268 single base substitution C T synonymous_variant G287G 861C>T UCEC-US 4 89317276 89317276 single base substitution C T exon_variant UCEC-US 4 89317276 89317276 single base substitution C T missense_variant S290L 869C>T UCEC-US 4 89318105 89318105 single base substitution G T exon_variant UCEC-US 4 89318105 89318105 single base substitution G T intron_variant UCEC-US 4 89318105 89318105 single base substitution G T missense_variant E330D 990G>T UCEC-US 4 89319361 89319361 single base substitution G T downstream_gene_variant UCEC-US 4 89319361 89319361 single base substitution G T missense_variant Q364H 1092G>T UCEC-US 4 89319361 89319361 single base substitution G T splice_region_variant UCEC-US 4 89334369 89334369 single base substitution A G synonymous_variant P503P 1509A>G UCEC-US 4 89338711 89338711 single base substitution A G missense_variant M565V 1693A>G UCEC-US 4 89345078 89345078 single base substitution A C missense_variant N594H 1780A>C UCEC-US 4 89345090 89345090 single base substitution G T missense_variant D598Y 1792G>T UCEC-US 4 89345751 89345751 single base substitution C A intron_variant UCEC-US 4 89345751 89345751 single base substitution C A missense_variant P611H 1832C>A UCEC-US 4 89349753 89349753 single base substitution A G missense_variant M617V 1849A>G UCEC-US 4 89349753 89349753 single base substitution A G missense_variant M653V 1957A>G UCEC-US 4 89349828 89349828 single base substitution C T stop_gained R642* 1924C>T UCEC-US 4 89349828 89349828 single base substitution C T stop_gained R678* 2032C>T UCEC-US 4 89349834 89349834 single base substitution C T missense_variant R644C 1930C>T UCEC-US 4 89349834 89349834 single base substitution C T missense_variant R680C 2038C>T UCEC-US 4 89352321 89352321 single base substitution T G missense_variant F669C 2006T>G UCEC-US 4 89352321 89352321 single base substitution T G missense_variant F705C 2114T>G UCEC-US 4 89352419 89352419 single base substitution T C missense_variant Y702H 2104T>C UCEC-US 4 89352419 89352419 single base substitution T C missense_variant Y738H 2212T>C UCEC-US 4 89357034 89357034 single base substitution G A missense_variant R767Q 2300G>A UCEC-US 4 89357034 89357034 single base substitution G A missense_variant R803Q 2408G>A UCEC-US 4 89357034 89357034 single base substitution G A upstream_gene_variant UCEC-US 4 89358081 89358081 single base substitution T C synonymous_variant D778D 2334T>C UCEC-US 4 89358081 89358081 single base substitution T C synonymous_variant D814D 2442T>C UCEC-US 4 89358081 89358081 single base substitution T C upstream_gene_variant UCEC-US 4 89358116 89358116 single base substitution G A missense_variant R790H 2369G>A UCEC-US 4 89358116 89358116 single base substitution G A missense_variant R826H 2477G>A UCEC-US 4 89358116 89358116 single base substitution G A upstream_gene_variant UCEC-US 4 89361066 89361066 single base substitution G A exon_variant UCEC-US 4 89361066 89361066 single base substitution G A missense_variant V830I 2488G>A UCEC-US 4 89361066 89361066 single base substitution G A missense_variant V866I 2596G>A UCEC-US 4 89361107 89361107 single base substitution T G exon_variant UCEC-US 4 89361107 89361107 single base substitution T G missense_variant F843L 2529T>G UCEC-US 4 89361107 89361107 single base substitution T G missense_variant F879L 2637T>G UCEC-US 4 89363508 89363508 single base substitution C A downstream_gene_variant UCEC-US 4 89363508 89363508 single base substitution C A missense_variant L953I 2857C>A UCEC-US 4 89363508 89363508 single base substitution C A missense_variant L989I 2965C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AX-A05Z-01 COSM1058789 c.2596G>A p.V866I Substitution - Missense 4:88439914-88439914 + 111 COSM5016941 c.2405C>G p.P802R Substitution - Missense 4:88435879-88435879 + TCGA-AP-A051-01 COSM1058767 c.578G>T p.S193I Substitution - Missense 4:88390793-88390793 + TCGA-AA-A00N-01 COSM275460 c.869C>T p.S290L Substitution - Missense 4:88396124-88396124 + TCGA-C8-A26Y-01 COSM3826421 c.1322G>A p.R441K Substitution - Missense 4:88408571-88408571 + TCGA-D1-A16X-01 COSM1058780 c.1957A>G p.M653V Substitution - Missense 4:88428601-88428601 + T6 COSM5344778 c.453G>A p.S151S Substitution - coding silent 4:88390668-88390668 + TCGA-EE-A181-06 COSM1058764 c.452C>T p.S151L Substitution - Missense 4:88390667-88390667 + Pat_41_B COSM5866923 c.2899G>A p.V967I Substitution - Missense 4:88442290-88442290 + TCGA-AA-3984-01 COSM273594 c.2265G>A p.K755K Substitution - coding silent 4:88435739-88435739 + TCGA-CG-4306-01 COSM4126639 c.1103C>G p.S368C Substitution - Missense 4:88404886-88404886 + TCGA-BS-A0UV-01 COSM1058764 c.452C>T p.S151L Substitution - Missense 4:88390667-88390667 + TCGA-CA-6718-01 COSM1431675 c.452C>A p.S151* Substitution - Nonsense 4:88390667-88390667 + CSCC-11-T COSM4562657 c.937G>A p.G313S Substitution - Missense 4:88396900-88396900 + CSCC-62-T COSM4453869 c.361A>G p.K121E Substitution - Missense 4:88385500-88385500 + HDC90 COSM4637465 c.1690G>A p.G564R Substitution - Missense 4:88417556-88417556 + TCGA-AP-A056-01 COSM1058786 c.2442T>C p.D814D Substitution - coding silent 4:88436929-88436929 + C086 COSM5532294 c.2821G>A p.D941N Substitution - Missense 4:88440229-88440229 + TCGA-AP-A059-01 COSM1058773 c.1693A>G p.M565V Substitution - Missense 4:88417559-88417559 + HT115 COSM2957517 c.2905C>T p.R969C Substitution - Missense 4:88442296-88442296 + pfg068T COSM4765334 c.1344_1345insA p.E451fs*14 Insertion - Frameshift 4:88408593-88408594 + TCGA-D3-A3MU-06 COSM3606916 c.1093-1G>A p.? Unknown 4:88404875-88404875 + Pat_54_A COSM5866920 c.515C>T p.P172L Substitution - Missense 4:88390730-88390730 + TCGA-A6-5665-01 COSM1431681 c.1982delA p.K663fs*27 Deletion - Frameshift 4:88428626-88428626 + TCGA-AA-A010-01 COSM281683 c.2038C>T p.R680C Substitution - Missense 4:88428682-88428682 + S00944 COSM5664223 c.652C>A p.R218S Substitution - Missense 4:88390867-88390867 + TCGA-DK-A2I4-01 COSM3776068 c.1384G>A p.E462K Substitution - Missense 4:88413092-88413092 + PD23562a COSM5774121 c.892C>G p.H298D Substitution - Missense 4:88396855-88396855 + TCGA-EW-A1J5-01 COSM1486159 c.1490G>A p.W497* Substitution - Nonsense 4:88413198-88413198 + 67 COSM5016061 c.3024_3026delCAA p.N1011delN Deletion - In frame 4:88442415-88442417 + TCGA-AP-A059-01 COSM1058762 c.402C>A p.S134S Substitution - coding silent 4:88385541-88385541 + TCGA-AP-A0LM-01 COSM1058781 c.2032C>T p.R678* Substitution - Nonsense 4:88428676-88428676 + SNU-C4 COSM4653849 c.1001T>C p.I334T Substitution - Missense 4:88396964-88396964 + TCGA-CK-4948-01 COSM3696776 c.1814G>A p.R605Q Substitution - Missense 4:88423960-88423960 + CSCC-60-T COSM4456973 c.1029C>T p.F343F Substitution - coding silent 4:88398146-88398146 + TCGA-AA-3662-01 COSM3760824 c.168C>A p.G56G Substitution - coding silent 4:88379089-88379089 + PAPNNX COSM2957468 c.1109G>A p.R370H Substitution - Missense 4:88404892-88404892 + ESCC-F70 COSM5048361 c.2122G>A p.E708K Substitution - Missense 4:88431177-88431177 + HCC2998 COSM4631768 c.198A>G p.P66P Substitution - coding silent 4:88379119-88379119 + U2940 COSM5620954 c.445G>A p.V149M Substitution - Missense 4:88390660-88390660 + TCGA-B6-A0WV-01 COSM448319 c.329G>A p.G110E Substitution - Missense 4:88383350-88383350 + PT21_2 COSM5901308 c.1295C>T p.S432F Substitution - Missense 4:88408544-88408544 + 1_PRE-TREATMENT COSM1719053 c.2278C>T p.L760F Substitution - Missense 4:88435752-88435752 + 587376 COSM1209604 c.887+2T>G p.? Unknown 4:88396144-88396144 + TCGA-BR-4184-01 COSM4126644 c.2543A>G p.D848G Substitution - Missense 4:88437769-88437769 + C0048T COSM4165060 c.1599G>A p.P533P Substitution - coding silent 4:88417465-88417465 + TCGA-B5-A0JY-01 COSM1058760 c.340G>T p.E114* Substitution - Nonsense 4:88383361-88383361 + sysucc-783T COSM5484725 c.468C>A p.S156R Substitution - Missense 4:88390683-88390683 + TCGA-HU-A4GT-01 COSM4126642 c.1141C>T p.R381* Substitution - Nonsense 4:88404924-88404924 + TCGA-CA-6717-01 COSM1431683 c.2858G>A p.R953H Substitution - Missense 4:88442249-88442249 + TCGA-AA-A00N-01 COSM275461 c.2598C>T p.V866V Substitution - coding silent 4:88439916-88439916 + TCGA-AA-3984-01 COSM273595 c.2965C>A p.L989I Substitution - Missense 4:88442356-88442356 + 86793 COSM94466 c.2995A>G p.R999G Substitution - Missense 4:88442386-88442386 + 18195 COSM5346401 c.86C>T p.A29V Substitution - Missense 4:88379007-88379007 + TCGA-NH-A5IV-01 COSM5183899 c.1295C>A p.S432Y Substitution - Missense 4:88408544-88408544 + TCGA-D1-A17L-01 COSM1058787 c.2466G>T p.A822A Substitution - coding silent 4:88436953-88436953 + 8058330 COSM4407914 c.2044G>A p.V682I Substitution - Missense 4:88428688-88428688 + TCGA-BI-A0VS-01 COSM462113 c.1101T>C p.S367S Substitution - coding silent 4:88404884-88404884 + PT37 COSM4482467 c.260C>T p.S87F Substitution - Missense 4:88383281-88383281 + CSCC-47-T COSM4460180 c.1155C>T p.S385S Substitution - coding silent 4:88404938-88404938 + TCGA-AN-A046-01 COSM1058764 c.452C>T p.S151L Substitution - Missense 4:88390667-88390667 + TCGA-C8-A12P-01 COSM448321 c.1108C>T p.R370C Substitution - Missense 4:88404891-88404891 + TCGA-AP-A051-01 COSM1058771 c.1092G>T p.Q364H Substitution - Missense 4:88398209-88398209 + TCGA-E2-A1IG-01 COSM1486160 c.3005A>G p.E1002G Substitution - Missense 4:88442396-88442396 + TCGA-BS-A0U8-01 COSM1058769 c.861C>T p.G287G Substitution - coding silent 4:88396116-88396116 + TCGA-HU-A4GQ-01 COSM4126636 c.682C>T p.L228F Substitution - Missense 4:88393505-88393505 + CHC805T COSM4954234 c.2330T>A p.L777H Substitution - Missense 4:88435804-88435804 + CHC805T COSM4954234 c.2330T>A p.L777H Substitution - Missense 4:88435804-88435804 + TCGA-B5-A11E-01 COSM1058778 c.1832C>A p.P611H Substitution - Missense 4:88424599-88424599 + 86501 COSM94460 c.1317G>A p.M439I Substitution - Missense 4:88408566-88408566 + 1_RESISTANT COSM1719051 c.615G>A p.W205* Substitution - Nonsense 4:88390830-88390830 + CSCC-62-T COSM4468443 c.1544C>T p.S515F Substitution - Missense 4:88413252-88413252 + HCT116 COSM2957458 c.975G>A p.P325P Substitution - coding silent 4:88396938-88396938 + HCT15 COSM1058773 c.1693A>G p.M565V Substitution - Missense 4:88417559-88417559 + TCGA-HJ-7597-01 COSM4126634 c.631G>A p.G211R Substitution - Missense 4:88390846-88390846 + TCGA-F1-6177-01 COSM4126640 c.1134A>C p.E378D Substitution - Missense 4:88404917-88404917 + TCGA-WS-AB45-01 COSM2957497 c.2039G>A p.R680H Substitution - Missense 4:88428683-88428683 + TCGA-BS-A0U7-01 COSM1058785 c.2408G>A p.R803Q Substitution - Missense 4:88435882-88435882 + TCGA-AN-A046-01 COSM3826423 c.1886C>T p.S629L Substitution - Missense 4:88424653-88424653 + TCGA-G4-6588-01 COSM1431676 c.516G>A p.P172P Substitution - coding silent 4:88390731-88390731 + T3080 COSM4690156 c.503C>T p.S168F Substitution - Missense 4:88390718-88390718 + TCGA-AX-A0J0-01 COSM273595 c.2965C>A p.L989I Substitution - Missense 4:88442356-88442356 + TCGA-F4-6570-01 COSM1431682 c.2341C>T p.L781L Substitution - coding silent 4:88435815-88435815 + 18195 COSM5346398 c.83C>T p.A28V Substitution - Missense 4:88379004-88379004 + TCGA-C8-A1HM-01 COSM448322 c.1861A>G p.S621G Substitution - Missense 4:88424628-88424628 + SW48 COSM1431681 c.1982delA p.K663fs*27 Deletion - Frameshift 4:88428626-88428626 + 105068 COSM94464 c.1816G>A p.D606N Substitution - Missense 4:88423962-88423962 + TCGA-D3-A3MV-06 COSM3606918 c.1180A>T p.K394* Substitution - Nonsense 4:88404963-88404963 + TCGA-BT-A3PK-01 COSM3776069 c.2133T>A p.P711P Substitution - coding silent 4:88431188-88431188 + TCGA-B5-A11E-01 COSM281683 c.2038C>T p.R680C Substitution - Missense 4:88428682-88428682 + TCGA-D1-A16Y-01 COSM1058784 c.2212T>C p.Y738H Substitution - Missense 4:88431267-88431267 + SNUH_G76_S1 COSM4419448 c.595T>C p.C199R Substitution - Missense 4:88390810-88390810 + 100960 COSM94462 c.1496A>T p.N499I Substitution - Missense 4:88413204-88413204 + TCGA-AG-3592-01 COSM3428755 c.1880T>G p.F627C Substitution - Missense 4:88424647-88424647 + ESCC-180T COSM3940979 c.1026C>T p.D342D Substitution - coding silent 4:88398143-88398143 + BD72T COSM5512045 c.652C>T p.R218C Substitution - Missense 4:88390867-88390867 + SC_9027 COSM5563944 c.2427A>G p.Q809Q Substitution - coding silent 4:88436914-88436914 + sysucc-311T COSM4839603 c.200-1G>T p.? Unknown 4:88383220-88383220 + TCGA-AZ-6605-01 COSM3760824 c.168C>A p.G56G Substitution - coding silent 4:88379089-88379089 + TCGA-BS-A0UJ-01 COSM1058772 c.1509A>G p.P503P Substitution - coding silent 4:88413217-88413217 + TCGA-AZ-4315-01 COSM1431677 c.690C>T p.V230V Substitution - coding silent 4:88393513-88393513 + ESO-720 COSM1254142 c.2585A>G p.Y862C Substitution - Missense 4:88439903-88439903 + 385 COSM4426999 c.984G>A p.L328L Substitution - coding silent 4:88396947-88396947 + TCGA-G2-A3VY-01 COSM3776070 c.3001G>C p.E1001Q Substitution - Missense 4:88442392-88442392 + TCGA-G4-6309-01 COSM1431680 c.1657G>A p.E553K Substitution - Missense 4:88417523-88417523 + CSCC-49-T COSM1058764 c.452C>T p.S151L Substitution - Missense 4:88390667-88390667 + PCSI_0345_Pa_P_526 COSM4809248 c.2636T>C p.F879S Substitution - Missense 4:88439954-88439954 + TCGA-LG-A6GG-01 COSM4939527 c.1368+2T>C p.? Unknown 4:88408619-88408619 + TP_2010 COSM4165060 c.1599G>A p.P533P Substitution - coding silent 4:88417465-88417465 + TCGA-B5-A11E-01 COSM1058768 c.696A>G p.A232A Substitution - coding silent 4:88393519-88393519 + TCGA-AG-3892-01 COSM257109 c.1307A>G p.D436G Substitution - Missense 4:88408556-88408556 + C086 COSM5532292 c.401C>T p.S134F Substitution - Missense 4:88385540-88385540 + CRC-06T COSM5457144 c.992A>G p.N331S Substitution - Missense 4:88396955-88396955 + CSCC-27-T COSM4507797 c.756C>T p.T252T Substitution - coding silent 4:88393579-88393579 + 90482 COSM330467 c.1541A>G p.Q514R Substitution - Missense 4:88413249-88413249 + TCGA-GV-A3JX-01 COSM1310361 c.2719G>C p.D907H Substitution - Missense 4:88440037-88440037 + TCGA-66-2785-01 COSM735359 c.2186C>G p.T729S Substitution - Missense 4:88431241-88431241 + TCGA-66-2767-01 COSM735360 c.1151A>T p.Q384L Substitution - Missense 4:88404934-88404934 + LUAD-NYU201 COSM371433 c.823G>T p.E275* Substitution - Nonsense 4:88396078-88396078 + TCGA-AM-5820-01 COSM3760828 c.2441A>C p.D814A Substitution - Missense 4:88436928-88436928 + S00472 COSM5657908 c.211G>T p.A71S Substitution - Missense 4:88383232-88383232 + SW620 COSM4656573 c.175G>A p.G59S Substitution - Missense 4:88379096-88379096 + S02299 COSM5690720 c.2883A>T p.I961I Substitution - coding silent 4:88442274-88442274 + TCGA-DI-A0WH-01 COSM1058792 c.2880C>T p.G960G Substitution - coding silent 4:88442271-88442271 + TCGA-22-1012-01 COSM735357 c.2632G>C p.G878R Substitution - Missense 4:88439950-88439950 + TCGA-EE-A2GE-06 COSM3606913 c.280G>A p.G94R Substitution - Missense 4:88383301-88383301 + S02285 COSM5684880 c.757C>G p.Q253E Substitution - Missense 4:88393580-88393580 + 1_RESISTANT COSM1719053 c.2278C>T p.L760F Substitution - Missense 4:88435752-88435752 + CPCG0211-F1 COSM4880624 c.238G>A p.V80M Substitution - Missense 4:88383259-88383259 + HT115 COSM2957513 c.2772A>G p.S924S Substitution - coding silent 4:88440180-88440180 + TCGA-66-2759-01 COSM735355 c.2843-2A>G p.? Unknown 4:88442232-88442232 + 2492729 COSM5727252 c.1453C>T p.L485F Substitution - Missense 4:88413161-88413161 + Gp2D COSM4628333 c.2082T>C p.A694A Substitution - coding silent 4:88428726-88428726 + CSCC-7-T COSM4482467 c.260C>T p.S87F Substitution - Missense 4:88383281-88383281 + CSCC-20-T COSM2957458 c.975G>A p.P325P Substitution - coding silent 4:88396938-88396938 + 3N63-VS-3T63 COSM4984594 c.1179G>A p.V393V Substitution - coding silent 4:88404962-88404962 + 388 COSM3724411 c.172_173insG p.A60fs*19 Insertion - Frameshift 4:88379093-88379094 + TCGA-BS-A0U8-01 COSM1058765 c.564C>T p.A188A Substitution - coding silent 4:88390779-88390779 + ESCC-D13 COSM5045323 c.518A>T p.Q173L Substitution - Missense 4:88390733-88390733 + TCGA-IR-A3LA-01 COSM4844713 c.2886G>A p.Q962Q Substitution - coding silent 4:88442277-88442277 + 61 COSM5737024 c.994T>C p.F332L Substitution - Missense 4:88396957-88396957 + TCGA-04-1356-01 COSM86635 c.746C>T p.A249V Substitution - Missense 4:88393569-88393569 + TCGA-BS-A0UF-01 COSM1058790 c.2637T>G p.F879L Substitution - Missense 4:88439955-88439955 + CSCC-27-T COSM4456973 c.1029C>T p.F343F Substitution - coding silent 4:88398146-88398146 + TCGA-AY-6386-01 COSM1431674 c.292G>A p.A98T Substitution - Missense 4:88383313-88383313 + TCGA-FV-A4ZQ-01 COSM4921970 c.948A>G p.P316P Substitution - coding silent 4:88396911-88396911 + TCGA-AX-A05Z-01 COSM1058782 c.2114T>G p.F705C Substitution - Missense 4:88431169-88431169 + B5-Tumor COSM3760827 c.1027T>C p.F343L Substitution - Missense 4:88398144-88398144 + PTC-28C COSM4159295 c.28A>G p.R10G Substitution - Missense 4:88378949-88378949 + 8057649 COSM3393041 c.1960C>G p.L654V Substitution - Missense 4:88428604-88428604 + TCGA-AM-5820-01 COSM3760827 c.1027T>C p.F343L Substitution - Missense 4:88398144-88398144 + TCGA-EI-6917-01 COSM3428754 c.1290G>A p.T430T Substitution - coding silent 4:88408539-88408539 + TCGA-21-5782-01 COSM735358 c.2424G>A p.L808L Substitution - coding silent 4:88436911-88436911 + TCGA-BR-4361-01 COSM4126630 c.468C>T p.S156S Substitution - coding silent 4:88390683-88390683 + TCGA-66-2754-01 COSM735354 c.2886G>C p.Q962H Substitution - Missense 4:88442277-88442277 + TCGA-AP-A056-01 COSM275460 c.869C>T p.S290L Substitution - Missense 4:88396124-88396124 + TCGA-FS-A1ZK-06 COSM3918329 c.458G>A p.G153E Substitution - Missense 4:88390673-88390673 + EGC15 COSM5060532 c.859G>A p.G287S Substitution - Missense 4:88396114-88396114 + TCGA-46-3765-01 COSM735361 c.820C>A p.P274T Substitution - Missense 4:88396075-88396075 + TCGA-FW-A3R5-06 COSM3918326 c.203C>T p.P68L Substitution - Missense 4:88383224-88383224 + TCGA-A3-3374-01 COSM265404 c.1376C>T p.T459M Substitution - Missense 4:88413084-88413084 + HCC2998 COSM2957502 c.2395G>T p.E799* Substitution - Nonsense 4:88435869-88435869 + YUFERY COSM5401805 c.336C>T p.F112F Substitution - coding silent 4:88383357-88383357 + TCGA-AR-A2LL-01 COSM3826422 c.1621G>A p.A541T Substitution - Missense 4:88417487-88417487 + 18195 COSM5346332 c.87C>G p.A29A Substitution - coding silent 4:88379008-88379008 + CSCC-35-T COSM4541436 c.3003G>A p.E1001E Substitution - coding silent 4:88442394-88442394 + 1_PRE-TREATMENT COSM1719051 c.615G>A p.W205* Substitution - Nonsense 4:88390830-88390830 + Au3 COSM5601602 c.3004G>A p.E1002K Substitution - Missense 4:88442395-88442395 + PD11326a COSM5789769 c.2627A>T p.Q876L Substitution - Missense 4:88439945-88439945 + TCGA-BG-A0M0-01 COSM1058788 c.2477G>A p.R826H Substitution - Missense 4:88436964-88436964 + TCGA-B5-A0JY-01 COSM1058775 c.1780A>C p.N594H Substitution - Missense 4:88423926-88423926 + TCGA-FU-A3HZ-01 COSM4839603 c.200-1G>T p.? Unknown 4:88383220-88383220 + TCGA-AA-3966-01 COSM272772 c.2857C>T p.R953C Substitution - Missense 4:88442248-88442248 + TCGA-AG-A02N-01 COSM265404 c.1376C>T p.T459M Substitution - Missense 4:88413084-88413084 + 193T COSM1726508 c.1715T>C p.V572A Substitution - Missense 4:88423861-88423861 + TCGA-CA-6718-01 COSM1431679 c.1252A>G p.T418A Substitution - Missense 4:88405591-88405591 + TCGA-CK-4951-01 COSM5151854 c.2486T>A p.I829K Substitution - Missense 4:88437712-88437712 + TCGA-BR-8680-01 COSM1058764 c.452C>T p.S151L Substitution - Missense 4:88390667-88390667 + BD230T COSM5496706 c.2847C>A p.F949L Substitution - Missense 4:88442238-88442238 + TCGA-AG-A002-01 COSM261279 c.1407T>C p.L469L Substitution - coding silent 4:88413115-88413115 + TCGA-HU-8608-01 COSM275460 c.869C>T p.S290L Substitution - Missense 4:88396124-88396124 + SC_9081 COSM5563961 c.2499A>G p.Q833Q Substitution - coding silent 4:88437725-88437725 + TCGA-BR-8589-01 COSM4126632 c.552T>G p.A184A Substitution - coding silent 4:88390767-88390767 + CHC1534T COSM5348688 c.1988_1989insA p.D664fs*2 Insertion - Frameshift 4:88428632-88428633 + TCGA-BS-A0UV-01 COSM1058770 c.990G>T p.E330D Substitution - Missense 4:88396953-88396953 + TCGA-AA-3864-01 COSM5115191 c.1598C>T p.P533L Substitution - Missense 4:88417464-88417464 + TCGA-A6-6648-01 COSM1431678 c.955A>G p.T319A Substitution - Missense 4:88396918-88396918 + TCGA-BS-A0UF-01 COSM1058777 c.1792G>T p.D598Y Substitution - Missense 4:88423938-88423938 + TCGA-FU-A3HY-01 COSM4838710 c.2935C>T p.H979Y Substitution - Missense 4:88442326-88442326 + TCGA-AH-6544-01 COSM3428751 c.174G>A p.R58R Substitution - coding silent 4:88379095-88379095 + T3064 COSM4690158 c.2202A>G p.G734G Substitution - coding silent 4:88431257-88431257 + TCGA-IR-A3LH-01 COSM2957509 c.2617G>C p.E873Q Substitution - Missense 4:88439935-88439935 + PAPNNX COSM5004496 c.1116C>T p.P372P Substitution - coding silent 4:88404899-88404899 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.529317 4q22.1 609249

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E378D c.1134A>C 4 89326069 STAD A C Missense p.K276Q c.826A>C 4 89317233 CM A C Missense p.Q527P c.1580A>C 4 89338598 LUAD AG CT MultiAAMissense p.R277_G278delinsSC c.831_832delinsCT 4 89317238 HNSC AGGCGGCCA - MultiAAMissense p.Q27_S30delinsR c.80_88delAGGCGGCCA 4 89300153 BLCA A G Missense p.E1002G c.3005A>G 4 89363548 BRCA A G Missense p.I845V c.2533A>G 4 89358911 LUAD A G Missense p.S397G c.1189A>G 4 89326124 LUAD A G SpliceAcceptorSNV . c.2843-2A>G 4 89363384 LUSC - A IntronicInsertion . c.2842+49dupA 4 89361447 ESCA A T Missense p.Q384L c.1151A>T 4 89326086 LUSC A T Nonsense p.K394* c.1180A>T 4 89326115 CM C A Missense p.H192Q c.576C>A 4 89311943 LUAD C A Missense p.P274T c.820C>A 4 89317227 LUSC C A Missense p.S320R c.960C>A 4 89318075 HNSC C G Missense p.S368C c.1103C>G 4 89326038 STAD C G Missense p.S454C c.1361C>G 4 89329762 CM C T Missense p.A249V c.746C>T 4 89314721 OV C T Missense p.P617L c.1850C>T 4 89345769 CM C T Missense p.S151L c.452C>T 4 89311819 CM C T Synonymous p.F482F c.1446C>T 4 89334306 LUAD C T Synonymous p.G287G c.861C>T 4 89317268 UCEC G A Missense p.E1001K c.3001G>A 4 89363544 LUAD G A Missense p.E462K c.1384G>A 4 89334244 BLCA G A Missense p.E665K c.1993G>A 4 89349789 HNSC G A Missense p.G110E c.329G>A 4 89304502 BRCA G A Missense p.G153E c.458G>A 4 89311825 CM G A Missense p.G94R c.280G>A 4 89304453 CM G A Missense p.R803Q c.2408G>A 4 89357034 UCEC G A Missense p.R826H c.2477G>A 4 89358116 UCEC G A SpliceAcceptorSNV . c.1093-1G>A 4 89326027 CM G A Synonymous p.L808L c.2424G>A 4 89358063 LUSC G C Missense p.D907H c.2719G>C 4 89361189 BLCA G C Missense p.G878R c.2632G>C 4 89361102 LUSC G C Missense p.Q962H c.2886G>C 4 89363429 LUSC G T Missense p.D78Y c.232G>T 4 89304405 LUAD G T Missense p.K276N c.828G>T 4 89317235 CM G T Missense p.V303L c.907G>T 4 89318022 LUAD G T Missense p.V682F c.2044G>T 4 89349840 LUAD T A Missense p.S385T c.1153T>A 4 89326088 HNSC T A Synonymous p.P711P c.2133T>A 4 89352340 BLCA - TCCC IntronicInsertion . c.2556-37_2556-36insTCCC 4 89360989 CLL T C Missense p.Y738H c.2212T>C 4 89352419 UCEC