Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 7 100730635 100730635 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr7:100730635G>A c.42G>A c.(40-42)ctG>ctA p.L14L BLCA 7 100730774 100730774 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr7:100730774G>C c.181G>C c.(181-183)Gag>Cag p.E61Q BLCA 7 100730858 100730858 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 g.chr7:100730858C>T c.265C>T c.(265-267)Cgg>Tgg p.R89W BLCA 7 100731304 100731304 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 g.chr7:100731304G>A c.711G>A c.(709-711)gaG>gaA p.E237E BLCA 7 100731650 100731650 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr7:100731650G>C c.1057G>C c.(1057-1059)Gag>Cag p.E353Q BLCA 7 100731813 100731813 + Missense_Mutation SNP G G T TCGA-CF-A7I0-01A-22D-A34U-08 TCGA-CF-A7I0-10A-01D-A34X-08 g.chr7:100731813G>T c.1220G>T c.(1219-1221)gGa>gTa p.G407V BLCA 7 100732141 100732141 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr7:100732141C>T c.1548C>T c.(1546-1548)ttC>ttT p.F516F BLCA 7 100732228 100732228 + Silent SNP G G A TCGA-5N-A9KM-01A-11D-A42E-08 TCGA-5N-A9KM-10A-01D-A42H-08 g.chr7:100732228G>A c.1635G>A c.(1633-1635)ccG>ccA p.P545P BLCA 7 100732273 100732273 + Missense_Mutation SNP C C G TCGA-E7-A6ME-01A-22D-A32B-08 TCGA-E7-A6ME-10B-01D-A329-08 g.chr7:100732273C>G c.1680C>G c.(1678-1680)agC>agG p.S560R BLCA 7 100732419 100732419 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 g.chr7:100732419G>C c.1826G>C c.(1825-1827)gGc>gCc p.G609A BLCA 7 100732690 100732690 + Silent SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr7:100732690C>T c.2097C>T c.(2095-2097)gtC>gtT p.V699V BRCA 7 100730642 100730642 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 g.chr7:100730642G>T c.49G>T c.(49-51)Gac>Tac p.D17Y BRCA 7 100732118 100732118 + Missense_Mutation SNP C C G TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr7:100732118C>G c.1525C>G c.(1525-1527)Cgg>Ggg p.R509G BRCA 7 100732127 100732127 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 g.chr7:100732127G>A c.1534G>A c.(1534-1536)Ggg>Agg p.G512R BRCA 7 100732399 100732399 + Silent SNP C C T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr7:100732399C>T c.1806C>T c.(1804-1806)cgC>cgT p.R602R BRCA 7 100732537 100732537 + Silent SNP C C T TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr7:100732537C>T c.1944C>T c.(1942-1944)ttC>ttT p.F648F CESC 7 100730884 100730884 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr7:100730884G>A c.291G>A c.(289-291)ggG>ggA p.G97G CESC 7 100730990 100730990 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 g.chr7:100730990G>T c.397G>T c.(397-399)Gac>Tac p.D133Y CESC 7 100732123 100732123 + Silent SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 g.chr7:100732123C>T c.1530C>T c.(1528-1530)atC>atT p.I510I CESC 7 100732201 100732201 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr7:100732201C>G c.1608C>G c.(1606-1608)ctC>ctG p.L536L CHOL 7 100732027 100732027 + Silent SNP G G T TCGA-ZD-A8I3-01A-11D-A417-09 TCGA-ZD-A8I3-10A-01D-A41A-09 g.chr7:100732027G>T c.1434G>T c.(1432-1434)ctG>ctT p.L478L COAD 7 100730789 100730789 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:100730789C>T c.196C>T c.(196-198)Ccg>Tcg p.P66S COAD 7 100731112 100731112 + Silent SNP C C T TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr7:100731112C>T c.519C>T c.(517-519)ccC>ccT p.P173P COAD 7 100731293 100731293 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr7:100731293C>T c.700C>T c.(700-702)Cgg>Tgg p.R234W COAD 7 100731739 100731739 + Silent SNP C C T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr7:100731739C>T c.1146C>T c.(1144-1146)gaC>gaT p.D382D COAD 7 100731777 100731777 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr7:100731777G>A c.1184G>A c.(1183-1185)cGg>cAg p.R395Q COAD 7 100732289 100732289 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:100732289G>A c.1696G>A c.(1696-1698)Gct>Act p.A566T COAD 7 100732337 100732337 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr7:100732337C>T c.1744C>T c.(1744-1746)Cgc>Tgc p.R582C COAD 7 100732457 100732457 + Missense_Mutation SNP A A T TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr7:100732457A>T c.1864A>T c.(1864-1866)Acc>Tcc p.T622S COAD 7 100732689 100732689 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:100732689T>C c.2096T>C c.(2095-2097)gTc>gCc p.V699A COAD 7 100732845 100732845 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr7:100732845G>A c.2252G>A c.(2251-2253)cGt>cAt p.R751H COADREAD 7 100730765 100730765 + Nonsense_Mutation SNP G G T TCGA-AG-3732-01A-11D-1657-10 TCGA-AG-3732-11A-01D-1657-10 g.chr7:100730765G>T c.172G>T c.(172-174)Gag>Tag p.E58* COADREAD 7 100730789 100730789 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:100730789C>T c.196C>T c.(196-198)Ccg>Tcg p.P66S COADREAD 7 100731112 100731112 + Silent SNP C C T TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr7:100731112C>T c.519C>T c.(517-519)ccC>ccT p.P173P COADREAD 7 100731293 100731293 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr7:100731293C>T c.700C>T c.(700-702)Cgg>Tgg p.R234W COADREAD 7 100731313 100731313 + Silent SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr7:100731313G>A c.720G>A c.(718-720)gcG>gcA p.A240A COADREAD 7 100731739 100731739 + Silent SNP C C T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr7:100731739C>T c.1146C>T c.(1144-1146)gaC>gaT p.D382D COADREAD 7 100731777 100731777 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr7:100731777G>A c.1184G>A c.(1183-1185)cGg>cAg p.R395Q COADREAD 7 100731829 100731829 + Silent SNP T T C TCGA-DC-6681-01A-11D-1826-10 TCGA-DC-6681-10A-01D-1826-10 g.chr7:100731829T>C c.1236T>C c.(1234-1236)gcT>gcC p.A412A COADREAD 7 100732289 100732289 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:100732289G>A c.1696G>A c.(1696-1698)Gct>Act p.A566T COADREAD 7 100732337 100732337 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr7:100732337C>T c.1744C>T c.(1744-1746)Cgc>Tgc p.R582C COADREAD 7 100732457 100732457 + Missense_Mutation SNP A A T TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr7:100732457A>T c.1864A>T c.(1864-1866)Acc>Tcc p.T622S COADREAD 7 100732537 100732537 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:100732537C>T c.1944C>T c.(1942-1944)ttC>ttT p.F648F COADREAD 7 100732689 100732689 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:100732689T>C c.2096T>C c.(2095-2097)gTc>gCc p.V699A COADREAD 7 100732845 100732845 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr7:100732845G>A c.2252G>A c.(2251-2253)cGt>cAt p.R751H DLBC 7 100730707 100730707 + Silent SNP T T C TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr7:100730707T>C c.114T>C c.(112-114)caT>caC p.H38H ESCA 7 100730776 100730776 + Silent SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr7:100730776G>A c.183G>A c.(181-183)gaG>gaA p.E61E ESCA 7 100730795 100730795 + Missense_Mutation SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr7:100730795G>C c.202G>C c.(202-204)Gag>Cag p.E68Q ESCA 7 100730995 100730995 + Silent SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr7:100730995G>A c.402G>A c.(400-402)ggG>ggA p.G134G ESCA 7 100731162 100731162 + Missense_Mutation SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr7:100731162G>C c.569G>C c.(568-570)aGa>aCa p.R190T GBM 7 100730794 100730794 + Silent SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 g.chr7:100730794C>T c.201C>T c.(199-201)ccC>ccT p.P67P GBMLGG 7 100730605 100730605 + Silent SNP C C T TCGA-S9-A89Z-01A-11D-A36O-08 TCGA-S9-A89Z-10A-01D-A367-08 g.chr7:100730605C>T c.12C>T c.(10-12)caC>caT p.H4H GBMLGG 7 100730794 100730794 + Silent SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 g.chr7:100730794C>T c.201C>T c.(199-201)ccC>ccT p.P67P GBMLGG 7 100732118 100732118 + Missense_Mutation SNP C C T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 g.chr7:100732118C>T c.1525C>T c.(1525-1527)Cgg>Tgg p.R509W GBMLGG 7 100732260 100732260 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 g.chr7:100732260C>T c.1667C>T c.(1666-1668)gCc>gTc p.A556V GBMLGG 7 100732732 100732732 + Silent SNP A A G TCGA-DH-A7UU-01A-12D-A34A-08 TCGA-DH-A7UU-10A-01D-A34A-08 g.chr7:100732732A>G c.2139A>G c.(2137-2139)ggA>ggG p.G713G HNSC 7 100731849 100731849 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 g.chr7:100731849C>T c.1256C>T c.(1255-1257)cCa>cTa p.P419L HNSC 7 100732060 100732060 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr7:100732060C>T c.1467C>T c.(1465-1467)ccC>ccT p.P489P HNSC 7 100732101 100732101 + Missense_Mutation SNP G G C TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr7:100732101G>C c.1508G>C c.(1507-1509)gGa>gCa p.G503A HNSC 7 100732306 100732307 + Frame_Shift_Del DEL TC TC - TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 g.chr7:100732306_100732307delTC c.1713_1714delTC c.(1711-1716)tatctcfs p.L572fs HNSC 7 100732416 100732416 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:100732416C>T c.1823C>T c.(1822-1824)gCg>gTg p.A608V HNSC 7 100732424 100732424 + Missense_Mutation SNP G G A TCGA-UF-A7JD-01A-11D-A34J-08 TCGA-UF-A7JD-10A-01D-A34M-08 g.chr7:100732424G>A c.1831G>A c.(1831-1833)Gtg>Atg p.V611M KIPAN 7 100732116 100732116 + Missense_Mutation SNP C C T TCGA-F9-A7VF-01A-11D-A33Q-10 TCGA-F9-A7VF-10A-01D-A33Q-10 g.chr7:100732116C>T c.1523C>T c.(1522-1524)cCc>cTc p.P508L KIRP 7 100732116 100732116 + Missense_Mutation SNP C C T TCGA-F9-A7VF-01A-11D-A33Q-10 TCGA-F9-A7VF-10A-01D-A33Q-10 g.chr7:100732116C>T c.1523C>T c.(1522-1524)cCc>cTc p.P508L LGG 7 100730605 100730605 + Silent SNP C C T TCGA-S9-A89Z-01A-11D-A36O-08 TCGA-S9-A89Z-10A-01D-A367-08 g.chr7:100730605C>T c.12C>T c.(10-12)caC>caT p.H4H LGG 7 100732118 100732118 + Missense_Mutation SNP C C T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 g.chr7:100732118C>T c.1525C>T c.(1525-1527)Cgg>Tgg p.R509W LGG 7 100732260 100732260 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 g.chr7:100732260C>T c.1667C>T c.(1666-1668)gCc>gTc p.A556V LGG 7 100732732 100732732 + Silent SNP A A G TCGA-DH-A7UU-01A-12D-A34A-08 TCGA-DH-A7UU-10A-01D-A34A-08 g.chr7:100732732A>G c.2139A>G c.(2137-2139)ggA>ggG p.G713G LIHC 7 100731596 100731596 + Silent SNP C C T TCGA-DD-AAVX-01A-11D-A40R-10 TCGA-DD-AAVX-10A-01D-A40U-10 g.chr7:100731596C>T c.1003C>T c.(1003-1005)Ctg>Ttg p.L335L LIHC 7 100732328 100732328 + Missense_Mutation SNP G G A TCGA-DD-AADR-01A-11D-A40R-10 TCGA-DD-AADR-10A-01D-A40U-10 g.chr7:100732328G>A c.1735G>A c.(1735-1737)Gtg>Atg p.V579M LUAD 7 100730990 100730990 + Missense_Mutation SNP G G T TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr7:100730990G>T c.397G>T c.(397-399)Gac>Tac p.D133Y LUAD 7 100731029 100731029 + Missense_Mutation SNP G G T TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr7:100731029G>T c.436G>T c.(436-438)Gtg>Ttg p.V146L LUAD 7 100731715 100731715 + Missense_Mutation SNP G G T TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr7:100731715G>T c.1122G>T c.(1120-1122)caG>caT p.Q374H LUAD 7 100731915 100731915 + Missense_Mutation SNP A A T TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr7:100731915A>T c.1322A>T c.(1321-1323)cAg>cTg p.Q441L LUAD 7 100732027 100732027 + Silent SNP G G C TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr7:100732027G>C c.1434G>C c.(1432-1434)ctG>ctC p.L478L LUAD 7 100732051 100732051 + Silent SNP C C G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 g.chr7:100732051C>G c.1458C>G c.(1456-1458)ggC>ggG p.G486G LUAD 7 100732112 100732113 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 g.chr7:100732112_100732113insC c.1519_1520insC c.(1519-1521)tccfs p.S507fs LUAD 7 100732116 100732116 + Missense_Mutation SNP C C T TCGA-J2-8194-01A-11D-2238-08 TCGA-J2-8194-10A-01D-2238-08 g.chr7:100732116C>T c.1523C>T c.(1522-1524)cCc>cTc p.P508L LUAD 7 100732256 100732256 + Missense_Mutation SNP G G T TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr7:100732256G>T c.1663G>T c.(1663-1665)Gtg>Ttg p.V555L LUAD 7 100732402 100732402 + Silent SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr7:100732402G>T c.1809G>T c.(1807-1809)gtG>gtT p.V603V LUAD 7 100732499 100732499 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr7:100732499G>T c.1906G>T c.(1906-1908)Gcg>Tcg p.A636S LUAD 7 100732770 100732770 + Missense_Mutation SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr7:100732770G>A c.2177G>A c.(2176-2178)cGg>cAg p.R726Q LUAD 7 100732822 100732822 + Silent SNP G G T TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr7:100732822G>T c.2229G>T c.(2227-2229)ggG>ggT p.G743G LUSC 7 100731660 100731660 + Missense_Mutation SNP C C A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr7:100731660C>A c.1067C>A c.(1066-1068)cCt>cAt p.P356H LUSC 7 100732826 100732826 + Missense_Mutation SNP A A G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 g.chr7:100732826A>G c.2233A>G c.(2233-2235)Atc>Gtc p.I745V OV 7 100732293 100732293 + Missense_Mutation SNP G G C TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 g.chr7:100732293G>C c.1700G>C c.(1699-1701)aGc>aCc p.S567T PAAD 7 100730866 100730866 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:100730866T>C c.273T>C c.(271-273)tgT>tgC p.C91C PAAD 7 100730929 100730929 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:100730929C>T c.336C>T c.(334-336)acC>acT p.T112T PRAD 7 100730969 100730969 + Missense_Mutation SNP G G C TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 g.chr7:100730969G>C c.376G>C c.(376-378)Gac>Cac p.D126H PRAD 7 100732487 100732487 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr7:100732487C>T c.1894C>T c.(1894-1896)Cgg>Tgg p.R632W READ 7 100730765 100730765 + Nonsense_Mutation SNP G G T TCGA-AG-3732-01A-11D-1657-10 TCGA-AG-3732-11A-01D-1657-10 g.chr7:100730765G>T c.172G>T c.(172-174)Gag>Tag p.E58* READ 7 100731313 100731313 + Silent SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr7:100731313G>A c.720G>A c.(718-720)gcG>gcA p.A240A READ 7 100731829 100731829 + Silent SNP T T C TCGA-DC-6681-01A-11D-1826-10 TCGA-DC-6681-10A-01D-1826-10 g.chr7:100731829T>C c.1236T>C c.(1234-1236)gcT>gcC p.A412A READ 7 100732537 100732537 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:100732537C>T c.1944C>T c.(1942-1944)ttC>ttT p.F648F SKCM 7 100730624 100730624 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr7:100730624C>T c.31C>T c.(31-33)Ctg>Ttg p.L11L SKCM 7 100730827 100730827 + Silent SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr7:100730827C>T c.234C>T c.(232-234)ttC>ttT p.F78F SKCM 7 100730827 100730827 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:100730827C>T c.234C>T c.(232-234)ttC>ttT p.F78F SKCM 7 100731068 100731068 + Missense_Mutation SNP G G A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 g.chr7:100731068G>A c.475G>A c.(475-477)Gag>Aag p.E159K SKCM 7 100731199 100731199 + Silent SNP C C T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr7:100731199C>T c.606C>T c.(604-606)tgC>tgT p.C202C SKCM 7 100731662 100731662 + Missense_Mutation SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr7:100731662G>A c.1069G>A c.(1069-1071)Ggg>Agg p.G357R SKCM 7 100732120 100732120 + Silent SNP G G A TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr7:100732120G>A c.1527G>A c.(1525-1527)cgG>cgA p.R509R SKCM 7 100732537 100732537 + Silent SNP C C T TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr7:100732537C>T c.1944C>T c.(1942-1944)ttC>ttT p.F648F SKCM 7 100732634 100732634 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr7:100732634C>T c.2041C>T c.(2041-2043)Ccg>Tcg p.P681S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 7 100730635 100730635 single base substitution G A exon_variant BLCA-US 7 100730635 100730635 single base substitution G A synonymous_variant L14L 42G>A BLCA-US 7 100730635 100730635 single base substitution G A upstream_gene_variant BLCA-US 7 100730858 100730858 single base substitution C T downstream_gene_variant BLCA-US 7 100730858 100730858 single base substitution C T missense_variant R89W 265C>T BLCA-US 7 100730858 100730858 single base substitution C T upstream_gene_variant BLCA-US 7 100731304 100731304 single base substitution G A downstream_gene_variant BLCA-US 7 100731304 100731304 single base substitution G A synonymous_variant E237E 711G>A BLCA-US 7 100731304 100731304 single base substitution G A upstream_gene_variant BLCA-US 7 100731650 100731650 single base substitution G C downstream_gene_variant BLCA-US 7 100731650 100731650 single base substitution G C intron_variant BLCA-US 7 100731650 100731650 single base substitution G C missense_variant E353Q 1057G>C BLCA-US 7 100731650 100731650 single base substitution G C upstream_gene_variant BRCA-EU 7 100724000 100724000 single base substitution G A upstream_gene_variant BRCA-EU 7 100724712 100724712 single base substitution T G upstream_gene_variant BRCA-EU 7 100725628 100725628 single base substitution G C upstream_gene_variant BRCA-EU 7 100727667 100727667 single base substitution G A upstream_gene_variant BRCA-EU 7 100728507 100728507 single base substitution C T upstream_gene_variant BRCA-EU 7 100729013 100729013 single base substitution C G intron_variant BRCA-EU 7 100729013 100729013 single base substitution C G upstream_gene_variant BRCA-EU 7 100729028 100729028 single base substitution C G intron_variant BRCA-EU 7 100729028 100729028 single base substitution C G upstream_gene_variant BRCA-EU 7 100730941 100730941 single base substitution C A downstream_gene_variant BRCA-EU 7 100730941 100730941 single base substitution C A synonymous_variant A116A 348C>A BRCA-EU 7 100730941 100730941 single base substitution C A upstream_gene_variant BRCA-EU 7 100731539 100731539 single base substitution G C downstream_gene_variant BRCA-EU 7 100731539 100731539 single base substitution G C intron_variant BRCA-EU 7 100731539 100731539 single base substitution G C missense_variant G316R 946G>C BRCA-EU 7 100731539 100731539 single base substitution G C upstream_gene_variant BRCA-EU 7 100733146 100733146 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 100733146 100733146 single base substitution C T downstream_gene_variant BRCA-EU 7 100733146 100733146 single base substitution C T exon_variant BRCA-EU 7 100733146 100733146 single base substitution C T intron_variant BRCA-EU 7 100733819 100733819 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 100733819 100733819 single base substitution C T downstream_gene_variant BRCA-EU 7 100733819 100733819 single base substitution C T exon_variant BRCA-EU 7 100733819 100733819 single base substitution C T intron_variant BRCA-EU 7 100734217 100734217 single base substitution G A downstream_gene_variant BRCA-EU 7 100734217 100734217 single base substitution G A intron_variant BRCA-EU 7 100739486 100739486 single base substitution A G downstream_gene_variant BRCA-UK 7 100732303 100732303 single base substitution C T downstream_gene_variant BRCA-UK 7 100732303 100732303 single base substitution C T intron_variant BRCA-UK 7 100732303 100732303 single base substitution C T synonymous_variant L570L 1710C>T BRCA-UK 7 100732303 100732303 single base substitution C T upstream_gene_variant BRCA-US 7 100730642 100730642 single base substitution G T exon_variant BRCA-US 7 100730642 100730642 single base substitution G T missense_variant D17Y 49G>T BRCA-US 7 100730642 100730642 single base substitution G T upstream_gene_variant BRCA-US 7 100732118 100732118 single base substitution C G downstream_gene_variant BRCA-US 7 100732118 100732118 single base substitution C G intron_variant BRCA-US 7 100732118 100732118 single base substitution C G missense_variant R509G 1525C>G BRCA-US 7 100732118 100732118 single base substitution C G upstream_gene_variant BRCA-US 7 100732127 100732127 single base substitution G A downstream_gene_variant BRCA-US 7 100732127 100732127 single base substitution G A intron_variant BRCA-US 7 100732127 100732127 single base substitution G A missense_variant G512R 1534G>A BRCA-US 7 100732127 100732127 single base substitution G A upstream_gene_variant BRCA-US 7 100732399 100732399 single base substitution C T downstream_gene_variant BRCA-US 7 100732399 100732399 single base substitution C T intron_variant BRCA-US 7 100732399 100732399 single base substitution C T synonymous_variant R602R 1806C>T BRCA-US 7 100732399 100732399 single base substitution C T upstream_gene_variant BRCA-US 7 100732537 100732537 single base substitution C T downstream_gene_variant BRCA-US 7 100732537 100732537 single base substitution C T intron_variant BRCA-US 7 100732537 100732537 single base substitution C T synonymous_variant F648F 1944C>T BRCA-US 7 100732537 100732537 single base substitution C T upstream_gene_variant BTCA-JP 7 100730678 100730678 single base substitution C T exon_variant BTCA-JP 7 100730678 100730678 single base substitution C T missense_variant R29W 85C>T BTCA-JP 7 100730678 100730678 single base substitution C T upstream_gene_variant BTCA-JP 7 100730774 100730774 single base substitution G T exon_variant BTCA-JP 7 100730774 100730774 single base substitution G T stop_gained E61* 181G>T BTCA-JP 7 100730774 100730774 single base substitution G T upstream_gene_variant BTCA-JP 7 100732424 100732424 single base substitution G T downstream_gene_variant BTCA-JP 7 100732424 100732424 single base substitution G T intron_variant BTCA-JP 7 100732424 100732424 single base substitution G T missense_variant V611L 1831G>T BTCA-JP 7 100732424 100732424 single base substitution G T upstream_gene_variant CESC-US 7 100730884 100730884 single base substitution G A downstream_gene_variant CESC-US 7 100730884 100730884 single base substitution G A synonymous_variant G97G 291G>A CESC-US 7 100730884 100730884 single base substitution G A upstream_gene_variant CESC-US 7 100730990 100730990 single base substitution G T downstream_gene_variant CESC-US 7 100730990 100730990 single base substitution G T missense_variant D133Y 397G>T CESC-US 7 100730990 100730990 single base substitution G T upstream_gene_variant CESC-US 7 100732123 100732123 single base substitution C T downstream_gene_variant CESC-US 7 100732123 100732123 single base substitution C T intron_variant CESC-US 7 100732123 100732123 single base substitution C T synonymous_variant I510I 1530C>T CESC-US 7 100732123 100732123 single base substitution C T upstream_gene_variant CESC-US 7 100732201 100732201 single base substitution C G downstream_gene_variant CESC-US 7 100732201 100732201 single base substitution C G intron_variant CESC-US 7 100732201 100732201 single base substitution C G synonymous_variant L536L 1608C>G CESC-US 7 100732201 100732201 single base substitution C G upstream_gene_variant CESC-US 7 100732911 100732911 single base substitution G A 3_prime_UTR_variant CESC-US 7 100732911 100732911 single base substitution G A downstream_gene_variant CESC-US 7 100732911 100732911 single base substitution G A exon_variant CESC-US 7 100732911 100732911 single base substitution G A intron_variant CESC-US 7 100732942 100732942 single base substitution G A 3_prime_UTR_variant CESC-US 7 100732942 100732942 single base substitution G A downstream_gene_variant CESC-US 7 100732942 100732942 single base substitution G A exon_variant CESC-US 7 100732942 100732942 single base substitution G A intron_variant CESC-US 7 100733756 100733756 single base substitution T G 3_prime_UTR_variant CESC-US 7 100733756 100733756 single base substitution T G downstream_gene_variant CESC-US 7 100733756 100733756 single base substitution T G exon_variant CESC-US 7 100733756 100733756 single base substitution T G intron_variant CLLE-ES 7 100726484 100726484 single base substitution G A upstream_gene_variant CLLE-ES 7 100735830 100735830 single base substitution C T downstream_gene_variant CLLE-ES 7 100736637 100736637 single base substitution A G downstream_gene_variant CLLE-ES 7 100739486 100739486 single base substitution A G downstream_gene_variant COAD-US 7 100730789 100730789 single base substitution C T exon_variant COAD-US 7 100730789 100730789 single base substitution C T missense_variant P66S 196C>T COAD-US 7 100730789 100730789 single base substitution C T upstream_gene_variant COAD-US 7 100730794 100730794 single base substitution C T downstream_gene_variant COAD-US 7 100730794 100730794 single base substitution C T synonymous_variant P67P 201C>T COAD-US 7 100730794 100730794 single base substitution C T upstream_gene_variant COAD-US 7 100731293 100731293 single base substitution C T downstream_gene_variant COAD-US 7 100731293 100731293 single base substitution C T missense_variant R234W 700C>T COAD-US 7 100731293 100731293 single base substitution C T upstream_gene_variant COAD-US 7 100731505 100731505 single base substitution C G downstream_gene_variant COAD-US 7 100731505 100731505 single base substitution C G intron_variant COAD-US 7 100731505 100731505 single base substitution C G synonymous_variant A304A 912C>G COAD-US 7 100731505 100731505 single base substitution C G upstream_gene_variant COAD-US 7 100731777 100731777 single base substitution G A downstream_gene_variant COAD-US 7 100731777 100731777 single base substitution G A intron_variant COAD-US 7 100731777 100731777 single base substitution G A missense_variant R395Q 1184G>A COAD-US 7 100731777 100731777 single base substitution G A upstream_gene_variant COAD-US 7 100732223 100732223 single base substitution G A downstream_gene_variant COAD-US 7 100732223 100732223 single base substitution G A intron_variant COAD-US 7 100732223 100732223 single base substitution G A missense_variant V544M 1630G>A COAD-US 7 100732223 100732223 single base substitution G A upstream_gene_variant COAD-US 7 100732289 100732289 single base substitution G A downstream_gene_variant COAD-US 7 100732289 100732289 single base substitution G A intron_variant COAD-US 7 100732289 100732289 single base substitution G A missense_variant A566T 1696G>A COAD-US 7 100732289 100732289 single base substitution G A upstream_gene_variant COAD-US 7 100732300 100732300 single base substitution G A downstream_gene_variant COAD-US 7 100732300 100732300 single base substitution G A intron_variant COAD-US 7 100732300 100732300 single base substitution G A synonymous_variant R569R 1707G>A COAD-US 7 100732300 100732300 single base substitution G A upstream_gene_variant COAD-US 7 100732321 100732321 single base substitution C T downstream_gene_variant COAD-US 7 100732321 100732321 single base substitution C T intron_variant COAD-US 7 100732321 100732321 single base substitution C T synonymous_variant N576N 1728C>T COAD-US 7 100732321 100732321 single base substitution C T upstream_gene_variant COAD-US 7 100732457 100732457 single base substitution A T downstream_gene_variant COAD-US 7 100732457 100732457 single base substitution A T intron_variant COAD-US 7 100732457 100732457 single base substitution A T missense_variant T622S 1864A>T COAD-US 7 100732457 100732457 single base substitution A T upstream_gene_variant COAD-US 7 100732598 100732598 single base substitution G A downstream_gene_variant COAD-US 7 100732598 100732598 single base substitution G A intron_variant COAD-US 7 100732598 100732598 single base substitution G A missense_variant G669R 2005G>A COAD-US 7 100732598 100732598 single base substitution G A upstream_gene_variant COAD-US 7 100732845 100732845 single base substitution G A downstream_gene_variant COAD-US 7 100732845 100732845 single base substitution G A intron_variant COAD-US 7 100732845 100732845 single base substitution G A missense_variant R751H 2252G>A COAD-US 7 100732845 100732845 single base substitution G A upstream_gene_variant COCA-CN 7 100730934 100730934 single base substitution G A downstream_gene_variant COCA-CN 7 100730934 100730934 single base substitution G A missense_variant G114E 341G>A COCA-CN 7 100730934 100730934 single base substitution G A upstream_gene_variant COCA-CN 7 100731233 100731233 single base substitution C T downstream_gene_variant COCA-CN 7 100731233 100731233 single base substitution C T missense_variant P214S 640C>T COCA-CN 7 100731233 100731233 single base substitution C T upstream_gene_variant COCA-CN 7 100731505 100731505 single base substitution C G downstream_gene_variant COCA-CN 7 100731505 100731505 single base substitution C G intron_variant COCA-CN 7 100731505 100731505 single base substitution C G synonymous_variant A304A 912C>G COCA-CN 7 100731505 100731505 single base substitution C G upstream_gene_variant COCA-CN 7 100731518 100731518 single base substitution G A downstream_gene_variant COCA-CN 7 100731518 100731518 single base substitution G A intron_variant COCA-CN 7 100731518 100731518 single base substitution G A missense_variant A309T 925G>A COCA-CN 7 100731518 100731518 single base substitution G A upstream_gene_variant COCA-CN 7 100738032 100738032 single base substitution A T downstream_gene_variant EOPC-DE 7 100739682 100739682 single base substitution C T downstream_gene_variant ESAD-UK 7 100725048 100725048 insertion of <=200bp - T upstream_gene_variant ESAD-UK 7 100725771 100725771 single base substitution G A upstream_gene_variant ESAD-UK 7 100726173 100726173 single base substitution C T upstream_gene_variant ESAD-UK 7 100727264 100727264 single base substitution C G upstream_gene_variant ESAD-UK 7 100731377 100731377 single base substitution G A downstream_gene_variant ESAD-UK 7 100731377 100731377 single base substitution G A missense_variant V262I 784G>A ESAD-UK 7 100731377 100731377 single base substitution G A upstream_gene_variant ESAD-UK 7 100731471 100731471 single base substitution C T downstream_gene_variant ESAD-UK 7 100731471 100731471 single base substitution C T intron_variant ESAD-UK 7 100731471 100731471 single base substitution C T missense_variant A293V 878C>T ESAD-UK 7 100731471 100731471 single base substitution C T upstream_gene_variant ESAD-UK 7 100732293 100732293 single base substitution G A downstream_gene_variant ESAD-UK 7 100732293 100732293 single base substitution G A intron_variant ESAD-UK 7 100732293 100732293 single base substitution G A missense_variant S567N 1700G>A ESAD-UK 7 100732293 100732293 single base substitution G A upstream_gene_variant ESAD-UK 7 100732372 100732372 single base substitution G A downstream_gene_variant ESAD-UK 7 100732372 100732372 single base substitution G A intron_variant ESAD-UK 7 100732372 100732372 single base substitution G A synonymous_variant A593A 1779G>A ESAD-UK 7 100732372 100732372 single base substitution G A upstream_gene_variant ESAD-UK 7 100734881 100734881 single base substitution G A downstream_gene_variant ESAD-UK 7 100734881 100734881 single base substitution G A intron_variant ESAD-UK 7 100736839 100736839 single base substitution G A downstream_gene_variant ESAD-UK 7 100738003 100738004 deletion of <=200bp GG - downstream_gene_variant ESAD-UK 7 100739203 100739203 single base substitution A T downstream_gene_variant ESCA-CN 7 100732489 100732489 single base substitution G C downstream_gene_variant ESCA-CN 7 100732489 100732489 single base substitution G C intron_variant ESCA-CN 7 100732489 100732489 single base substitution G C synonymous_variant R632R 1896G>C ESCA-CN 7 100732489 100732489 single base substitution G C upstream_gene_variant ESCA-CN 7 100733550 100733550 single base substitution C T 3_prime_UTR_variant ESCA-CN 7 100733550 100733550 single base substitution C T downstream_gene_variant ESCA-CN 7 100733550 100733550 single base substitution C T exon_variant ESCA-CN 7 100733550 100733550 single base substitution C T intron_variant KIRC-US 7 100731748 100731748 single base substitution T G downstream_gene_variant KIRC-US 7 100731748 100731748 single base substitution T G intron_variant KIRC-US 7 100731748 100731748 single base substitution T G synonymous_variant G385G 1155T>G KIRC-US 7 100731748 100731748 single base substitution T G upstream_gene_variant KIRP-US 7 100732355 100732355 single base substitution T C downstream_gene_variant KIRP-US 7 100732355 100732355 single base substitution T C intron_variant KIRP-US 7 100732355 100732355 single base substitution T C missense_variant S588P 1762T>C KIRP-US 7 100732355 100732355 single base substitution T C upstream_gene_variant LGG-US 7 100732260 100732260 single base substitution C T downstream_gene_variant LGG-US 7 100732260 100732260 single base substitution C T intron_variant LGG-US 7 100732260 100732260 single base substitution C T missense_variant A556V 1667C>T LGG-US 7 100732260 100732260 single base substitution C T upstream_gene_variant LIAD-FR 7 100731499 100731499 single base substitution C T downstream_gene_variant LIAD-FR 7 100731499 100731499 single base substitution C T intron_variant LIAD-FR 7 100731499 100731499 single base substitution C T synonymous_variant A302A 906C>T LIAD-FR 7 100731499 100731499 single base substitution C T upstream_gene_variant LICA-CN 7 100731784 100731784 single base substitution G A downstream_gene_variant LICA-CN 7 100731784 100731784 single base substitution G A intron_variant LICA-CN 7 100731784 100731784 single base substitution G A synonymous_variant E397E 1191G>A LICA-CN 7 100731784 100731784 single base substitution G A upstream_gene_variant LICA-FR 7 100731230 100731230 single base substitution A G downstream_gene_variant LICA-FR 7 100731230 100731230 single base substitution A G missense_variant R213G 637A>G LICA-FR 7 100731230 100731230 single base substitution A G upstream_gene_variant LICA-FR 7 100731741 100731741 single base substitution G T downstream_gene_variant LICA-FR 7 100731741 100731741 single base substitution G T intron_variant LICA-FR 7 100731741 100731741 single base substitution G T missense_variant G383V 1148G>T LICA-FR 7 100731741 100731741 single base substitution G T upstream_gene_variant LICA-FR 7 100732135 100732135 single base substitution T G downstream_gene_variant LICA-FR 7 100732135 100732135 single base substitution T G intron_variant LICA-FR 7 100732135 100732135 single base substitution T G missense_variant C514W 1542T>G LICA-FR 7 100732135 100732135 single base substitution T G upstream_gene_variant LICA-FR 7 100732489 100732489 single base substitution G A downstream_gene_variant LICA-FR 7 100732489 100732489 single base substitution G A intron_variant LICA-FR 7 100732489 100732489 single base substitution G A synonymous_variant R632R 1896G>A LICA-FR 7 100732489 100732489 single base substitution G A upstream_gene_variant LIHC-US 7 100732207 100732207 single base substitution C T downstream_gene_variant LIHC-US 7 100732207 100732207 single base substitution C T intron_variant LIHC-US 7 100732207 100732207 single base substitution C T synonymous_variant G538G 1614C>T LIHC-US 7 100732207 100732207 single base substitution C T upstream_gene_variant LINC-JP 7 100731890 100731890 single base substitution C G downstream_gene_variant LINC-JP 7 100731890 100731890 single base substitution C G intron_variant LINC-JP 7 100731890 100731890 single base substitution C G missense_variant Q433E 1297C>G LINC-JP 7 100731890 100731890 single base substitution C G upstream_gene_variant LIRI-JP 7 100723935 100723935 single base substitution C G upstream_gene_variant LIRI-JP 7 100724259 100724259 single base substitution T C upstream_gene_variant LIRI-JP 7 100724487 100724487 single base substitution G T upstream_gene_variant LIRI-JP 7 100725130 100725130 single base substitution A G upstream_gene_variant LIRI-JP 7 100728140 100728140 single base substitution C A upstream_gene_variant LIRI-JP 7 100728219 100728219 single base substitution C T upstream_gene_variant LIRI-JP 7 100729805 100729805 single base substitution G A intron_variant LIRI-JP 7 100729805 100729805 single base substitution G A upstream_gene_variant LIRI-JP 7 100730102 100730102 single base substitution T C exon_variant LIRI-JP 7 100730102 100730102 single base substitution T C intron_variant LIRI-JP 7 100730102 100730102 single base substitution T C upstream_gene_variant LIRI-JP 7 100732248 100732248 single base substitution C T downstream_gene_variant LIRI-JP 7 100732248 100732248 single base substitution C T intron_variant LIRI-JP 7 100732248 100732248 single base substitution C T missense_variant P552L 1655C>T LIRI-JP 7 100732248 100732248 single base substitution C T upstream_gene_variant LIRI-JP 7 100732391 100732391 single base substitution G A downstream_gene_variant LIRI-JP 7 100732391 100732391 single base substitution G A intron_variant LIRI-JP 7 100732391 100732391 single base substitution G A missense_variant G600R 1798G>A LIRI-JP 7 100732391 100732391 single base substitution G A upstream_gene_variant LIRI-JP 7 100732512 100732512 single base substitution T A downstream_gene_variant LIRI-JP 7 100732512 100732512 single base substitution T A intron_variant LIRI-JP 7 100732512 100732512 single base substitution T A missense_variant L640Q 1919T>A LIRI-JP 7 100732512 100732512 single base substitution T A upstream_gene_variant LIRI-JP 7 100737244 100737244 single base substitution A T downstream_gene_variant LIRI-JP 7 100737412 100737412 single base substitution C G downstream_gene_variant LIRI-JP 7 100737471 100737471 deletion of <=200bp A - downstream_gene_variant LIRI-JP 7 100738516 100738516 single base substitution G A downstream_gene_variant LUSC-KR 7 100724442 100724442 single base substitution C A upstream_gene_variant LUSC-KR 7 100728842 100728842 single base substitution G A 5_prime_UTR_variant LUSC-KR 7 100728842 100728842 single base substitution G A upstream_gene_variant LUSC-KR 7 100729260 100729260 single base substitution A T intron_variant LUSC-KR 7 100729260 100729260 single base substitution A T upstream_gene_variant LUSC-KR 7 100729841 100729841 single base substitution C A intron_variant LUSC-KR 7 100729841 100729841 single base substitution C A upstream_gene_variant LUSC-KR 7 100731802 100731802 single base substitution G C downstream_gene_variant LUSC-KR 7 100731802 100731802 single base substitution G C intron_variant LUSC-KR 7 100731802 100731802 single base substitution G C missense_variant E403D 1209G>C LUSC-KR 7 100731802 100731802 single base substitution G C upstream_gene_variant LUSC-KR 7 100731829 100731829 single base substitution T C downstream_gene_variant LUSC-KR 7 100731829 100731829 single base substitution T C intron_variant LUSC-KR 7 100731829 100731829 single base substitution T C synonymous_variant A412A 1236T>C LUSC-KR 7 100731829 100731829 single base substitution T C upstream_gene_variant LUSC-KR 7 100733100 100733100 single base substitution G A 3_prime_UTR_variant LUSC-KR 7 100733100 100733100 single base substitution G A downstream_gene_variant LUSC-KR 7 100733100 100733100 single base substitution G A exon_variant LUSC-KR 7 100733100 100733100 single base substitution G A intron_variant LUSC-KR 7 100735830 100735830 single base substitution C T downstream_gene_variant LUSC-KR 7 100738308 100738308 single base substitution A G downstream_gene_variant LUSC-US 7 100731192 100731192 single base substitution A C downstream_gene_variant LUSC-US 7 100731192 100731192 single base substitution A C missense_variant H200P 599A>C LUSC-US 7 100731192 100731192 single base substitution A C upstream_gene_variant LUSC-US 7 100731660 100731660 single base substitution C A downstream_gene_variant LUSC-US 7 100731660 100731660 single base substitution C A intron_variant LUSC-US 7 100731660 100731660 single base substitution C A missense_variant P356H 1067C>A LUSC-US 7 100731660 100731660 single base substitution C A upstream_gene_variant LUSC-US 7 100732826 100732826 single base substitution A G downstream_gene_variant LUSC-US 7 100732826 100732826 single base substitution A G intron_variant LUSC-US 7 100732826 100732826 single base substitution A G missense_variant I745V 2233A>G LUSC-US 7 100732826 100732826 single base substitution A G upstream_gene_variant MALY-DE 7 100725691 100725691 single base substitution C A upstream_gene_variant MALY-DE 7 100730256 100730256 single base substitution A T exon_variant MALY-DE 7 100730256 100730256 single base substitution A T intron_variant MALY-DE 7 100730256 100730256 single base substitution A T upstream_gene_variant MALY-DE 7 100730354 100730356 deletion of <=200bp GGA - 5_prime_UTR_variant MALY-DE 7 100730354 100730356 deletion of <=200bp GGA - exon_variant MALY-DE 7 100730354 100730356 deletion of <=200bp GGA - upstream_gene_variant MALY-DE 7 100739063 100739063 single base substitution G A downstream_gene_variant MELA-AU 7 100723814 100723814 single base substitution G A upstream_gene_variant MELA-AU 7 100723849 100723850 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 100723874 100723874 single base substitution G A upstream_gene_variant MELA-AU 7 100723889 100723889 single base substitution G A upstream_gene_variant MELA-AU 7 100723999 100723999 single base substitution C T upstream_gene_variant MELA-AU 7 100724097 100724097 single base substitution G A upstream_gene_variant MELA-AU 7 100724385 100724385 single base substitution A T upstream_gene_variant MELA-AU 7 100724437 100724437 single base substitution G C upstream_gene_variant MELA-AU 7 100724845 100724845 single base substitution C T upstream_gene_variant MELA-AU 7 100725111 100725111 single base substitution G A upstream_gene_variant MELA-AU 7 100725183 100725183 single base substitution C T upstream_gene_variant MELA-AU 7 100725412 100725412 single base substitution G A upstream_gene_variant MELA-AU 7 100725561 100725561 single base substitution C T upstream_gene_variant MELA-AU 7 100725652 100725652 single base substitution A T upstream_gene_variant MELA-AU 7 100725752 100725752 single base substitution C T upstream_gene_variant MELA-AU 7 100725820 100725820 single base substitution G A upstream_gene_variant MELA-AU 7 100726014 100726014 single base substitution G A upstream_gene_variant MELA-AU 7 100726150 100726150 single base substitution C G upstream_gene_variant MELA-AU 7 100726460 100726460 single base substitution C T upstream_gene_variant MELA-AU 7 100726549 100726549 single base substitution C T upstream_gene_variant MELA-AU 7 100726635 100726635 single base substitution G A upstream_gene_variant MELA-AU 7 100726649 100726649 single base substitution G A upstream_gene_variant MELA-AU 7 100726916 100726916 single base substitution C T upstream_gene_variant MELA-AU 7 100727496 100727496 single base substitution T C upstream_gene_variant MELA-AU 7 100727918 100727918 single base substitution G A upstream_gene_variant MELA-AU 7 100728160 100728160 single base substitution G A upstream_gene_variant MELA-AU 7 100730023 100730023 single base substitution G C intron_variant MELA-AU 7 100730023 100730023 single base substitution G C upstream_gene_variant MELA-AU 7 100730248 100730248 single base substitution C T exon_variant MELA-AU 7 100730248 100730248 single base substitution C T intron_variant MELA-AU 7 100730248 100730248 single base substitution C T upstream_gene_variant MELA-AU 7 100730465 100730465 single base substitution C T intron_variant MELA-AU 7 100730465 100730465 single base substitution C T upstream_gene_variant MELA-AU 7 100730947 100730948 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 100730947 100730948 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant AR118AW MELA-AU 7 100730947 100730948 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 100730982 100730982 single base substitution C T downstream_gene_variant MELA-AU 7 100730982 100730982 single base substitution C T missense_variant A130V 389C>T MELA-AU 7 100730982 100730982 single base substitution C T upstream_gene_variant MELA-AU 7 100731179 100731179 single base substitution C T downstream_gene_variant MELA-AU 7 100731179 100731179 single base substitution C T missense_variant P196S 586C>T MELA-AU 7 100731179 100731179 single base substitution C T upstream_gene_variant MELA-AU 7 100732677 100732677 single base substitution C T downstream_gene_variant MELA-AU 7 100732677 100732677 single base substitution C T intron_variant MELA-AU 7 100732677 100732677 single base substitution C T missense_variant T695I 2084C>T MELA-AU 7 100732677 100732677 single base substitution C T upstream_gene_variant MELA-AU 7 100732726 100732727 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 100732726 100732727 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 100732726 100732727 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant LL711LF MELA-AU 7 100732726 100732727 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 100733306 100733306 single base substitution C T 3_prime_UTR_variant MELA-AU 7 100733306 100733306 single base substitution C T downstream_gene_variant MELA-AU 7 100733306 100733306 single base substitution C T intron_variant MELA-AU 7 100733307 100733307 single base substitution C T 3_prime_UTR_variant MELA-AU 7 100733307 100733307 single base substitution C T downstream_gene_variant MELA-AU 7 100733307 100733307 single base substitution C T intron_variant MELA-AU 7 100733308 100733308 single base substitution C T 3_prime_UTR_variant MELA-AU 7 100733308 100733308 single base substitution C T downstream_gene_variant MELA-AU 7 100733308 100733308 single base substitution C T intron_variant MELA-AU 7 100733414 100733414 single base substitution G A 3_prime_UTR_variant MELA-AU 7 100733414 100733414 single base substitution G A downstream_gene_variant MELA-AU 7 100733414 100733414 single base substitution G A intron_variant MELA-AU 7 100733509 100733509 single base substitution A C 3_prime_UTR_variant MELA-AU 7 100733509 100733509 single base substitution A C downstream_gene_variant MELA-AU 7 100733509 100733509 single base substitution A C exon_variant MELA-AU 7 100733509 100733509 single base substitution A C intron_variant MELA-AU 7 100733992 100733992 single base substitution A G downstream_gene_variant MELA-AU 7 100733992 100733992 single base substitution A G intron_variant MELA-AU 7 100734165 100734165 single base substitution C T downstream_gene_variant MELA-AU 7 100734165 100734165 single base substitution C T intron_variant MELA-AU 7 100734364 100734364 single base substitution C T downstream_gene_variant MELA-AU 7 100734364 100734364 single base substitution C T intron_variant MELA-AU 7 100734590 100734591 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 100734590 100734591 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 100735051 100735051 single base substitution C A downstream_gene_variant MELA-AU 7 100735063 100735063 single base substitution C T downstream_gene_variant MELA-AU 7 100735590 100735590 single base substitution C T downstream_gene_variant MELA-AU 7 100735636 100735636 single base substitution C T downstream_gene_variant MELA-AU 7 100736011 100736011 single base substitution C T downstream_gene_variant MELA-AU 7 100736012 100736012 single base substitution G A downstream_gene_variant MELA-AU 7 100736319 100736319 single base substitution C T downstream_gene_variant MELA-AU 7 100736700 100736700 single base substitution C T downstream_gene_variant MELA-AU 7 100737878 100737879 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 100738548 100738548 single base substitution C T downstream_gene_variant MELA-AU 7 100739295 100739295 single base substitution C T downstream_gene_variant MELA-AU 7 100739476 100739476 single base substitution A G downstream_gene_variant MELA-AU 7 100739895 100739895 single base substitution C T downstream_gene_variant ORCA-IN 7 100725099 100725099 single base substitution G A upstream_gene_variant OV-AU 7 100726654 100726654 single base substitution T A upstream_gene_variant OV-AU 7 100727413 100727413 single base substitution G T upstream_gene_variant OV-AU 7 100727416 100727416 single base substitution A T upstream_gene_variant OV-AU 7 100731684 100731684 single base substitution A G downstream_gene_variant OV-AU 7 100731684 100731684 single base substitution A G intron_variant OV-AU 7 100731684 100731684 single base substitution A G missense_variant H364R 1091A>G OV-AU 7 100731684 100731684 single base substitution A G upstream_gene_variant OV-AU 7 100732505 100732505 single base substitution G T downstream_gene_variant OV-AU 7 100732505 100732505 single base substitution G T intron_variant OV-AU 7 100732505 100732505 single base substitution G T missense_variant V638L 1912G>T OV-AU 7 100732505 100732505 single base substitution G T upstream_gene_variant OV-AU 7 100733414 100733414 single base substitution G A 3_prime_UTR_variant OV-AU 7 100733414 100733414 single base substitution G A downstream_gene_variant OV-AU 7 100733414 100733414 single base substitution G A intron_variant OV-AU 7 100738770 100738770 single base substitution A C downstream_gene_variant PACA-AU 7 100729144 100729144 single base substitution G A intron_variant PACA-AU 7 100729144 100729144 single base substitution G A upstream_gene_variant PACA-AU 7 100729962 100729962 single base substitution C T intron_variant PACA-AU 7 100729962 100729962 single base substitution C T upstream_gene_variant PACA-AU 7 100730746 100730746 single base substitution C T exon_variant PACA-AU 7 100730746 100730746 single base substitution C T synonymous_variant G51G 153C>T PACA-AU 7 100730746 100730746 single base substitution C T upstream_gene_variant PACA-AU 7 100731163 100731163 single base substitution A T downstream_gene_variant PACA-AU 7 100731163 100731163 single base substitution A T missense_variant R190S 570A>T PACA-AU 7 100731163 100731163 single base substitution A T upstream_gene_variant PACA-AU 7 100733755 100733755 single base substitution A C 3_prime_UTR_variant PACA-AU 7 100733755 100733755 single base substitution A C downstream_gene_variant PACA-AU 7 100733755 100733755 single base substitution A C exon_variant PACA-AU 7 100733755 100733755 single base substitution A C intron_variant PACA-AU 7 100735058 100735058 single base substitution C T downstream_gene_variant PACA-AU 7 100735437 100735437 single base substitution C T downstream_gene_variant PACA-AU 7 100737054 100737054 single base substitution C T downstream_gene_variant PACA-AU 7 100738397 100738397 single base substitution G C downstream_gene_variant PACA-CA 7 100726514 100726514 deletion of <=200bp A - upstream_gene_variant PACA-CA 7 100728660 100728660 single base substitution G A upstream_gene_variant PACA-CA 7 100729992 100729992 single base substitution T C intron_variant PACA-CA 7 100729992 100729992 single base substitution T C upstream_gene_variant PACA-CA 7 100731171 100731171 single base substitution G A downstream_gene_variant PACA-CA 7 100731171 100731171 single base substitution G A missense_variant R193H 578G>A PACA-CA 7 100731171 100731171 single base substitution G A upstream_gene_variant PACA-CA 7 100731668 100731668 single base substitution C T downstream_gene_variant PACA-CA 7 100731668 100731668 single base substitution C T intron_variant PACA-CA 7 100731668 100731668 single base substitution C T synonymous_variant L359L 1075C>T PACA-CA 7 100731668 100731668 single base substitution C T upstream_gene_variant PACA-CA 7 100736233 100736235 deletion of <=200bp AAG - downstream_gene_variant PACA-CA 7 100738499 100738499 single base substitution T A downstream_gene_variant PAEN-AU 7 100732541 100732541 single base substitution G C downstream_gene_variant PAEN-AU 7 100732541 100732541 single base substitution G C intron_variant PAEN-AU 7 100732541 100732541 single base substitution G C missense_variant G650R 1948G>C PAEN-AU 7 100732541 100732541 single base substitution G C upstream_gene_variant PAEN-AU 7 100735830 100735830 single base substitution C T downstream_gene_variant PBCA-DE 7 100727031 100727031 single base substitution G T upstream_gene_variant PBCA-DE 7 100728152 100728152 single base substitution C T upstream_gene_variant PBCA-DE 7 100730940 100730940 single base substitution C T downstream_gene_variant PBCA-DE 7 100730940 100730940 single base substitution C T missense_variant A116V 347C>T PBCA-DE 7 100730940 100730940 single base substitution C T upstream_gene_variant PBCA-DE 7 100733267 100733267 single base substitution C T 3_prime_UTR_variant PBCA-DE 7 100733267 100733267 single base substitution C T downstream_gene_variant PBCA-DE 7 100733267 100733267 single base substitution C T intron_variant PBCA-DE 7 100735330 100735330 single base substitution G A downstream_gene_variant PBCA-DE 7 100738096 100738096 single base substitution T G downstream_gene_variant PRAD-CA 7 100728591 100728591 single base substitution C G upstream_gene_variant PRAD-US 7 100732487 100732487 single base substitution C T downstream_gene_variant PRAD-US 7 100732487 100732487 single base substitution C T intron_variant PRAD-US 7 100732487 100732487 single base substitution C T missense_variant R632W 1894C>T PRAD-US 7 100732487 100732487 single base substitution C T upstream_gene_variant READ-US 7 100730765 100730765 single base substitution G T exon_variant READ-US 7 100730765 100730765 single base substitution G T stop_gained E58* 172G>T READ-US 7 100730765 100730765 single base substitution G T upstream_gene_variant READ-US 7 100731505 100731505 single base substitution C G downstream_gene_variant READ-US 7 100731505 100731505 single base substitution C G intron_variant READ-US 7 100731505 100731505 single base substitution C G synonymous_variant A304A 912C>G READ-US 7 100731505 100731505 single base substitution C G upstream_gene_variant RECA-EU 7 100724590 100724590 single base substitution A T upstream_gene_variant SKCA-BR 7 100723999 100723999 single base substitution C T upstream_gene_variant SKCA-BR 7 100735053 100735053 single base substitution C T downstream_gene_variant SKCA-BR 7 100735081 100735081 single base substitution C T downstream_gene_variant SKCA-BR 7 100736641 100736641 single base substitution G A downstream_gene_variant SKCA-BR 7 100737535 100737535 single base substitution T G downstream_gene_variant SKCA-BR 7 100738102 100738102 single base substitution C G downstream_gene_variant SKCA-BR 7 100738347 100738347 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 7 100739955 100739955 single base substitution C T downstream_gene_variant SKCM-US 7 100730624 100730624 single base substitution C T exon_variant SKCM-US 7 100730624 100730624 single base substitution C T synonymous_variant L11L 31C>T SKCM-US 7 100730624 100730624 single base substitution C T upstream_gene_variant SKCM-US 7 100730827 100730827 single base substitution C T downstream_gene_variant SKCM-US 7 100730827 100730827 single base substitution C T synonymous_variant F78F 234C>T SKCM-US 7 100730827 100730827 single base substitution C T upstream_gene_variant SKCM-US 7 100731068 100731068 single base substitution G A downstream_gene_variant SKCM-US 7 100731068 100731068 single base substitution G A missense_variant E159K 475G>A SKCM-US 7 100731068 100731068 single base substitution G A upstream_gene_variant SKCM-US 7 100731199 100731199 single base substitution C T downstream_gene_variant SKCM-US 7 100731199 100731199 single base substitution C T synonymous_variant C202C 606C>T SKCM-US 7 100731199 100731199 single base substitution C T upstream_gene_variant SKCM-US 7 100731662 100731662 single base substitution G A downstream_gene_variant SKCM-US 7 100731662 100731662 single base substitution G A intron_variant SKCM-US 7 100731662 100731662 single base substitution G A missense_variant G357R 1069G>A SKCM-US 7 100731662 100731662 single base substitution G A upstream_gene_variant SKCM-US 7 100732120 100732120 single base substitution G A downstream_gene_variant SKCM-US 7 100732120 100732120 single base substitution G A intron_variant SKCM-US 7 100732120 100732120 single base substitution G A synonymous_variant R509R 1527G>A SKCM-US 7 100732120 100732120 single base substitution G A upstream_gene_variant SKCM-US 7 100732247 100732247 single base substitution C T downstream_gene_variant SKCM-US 7 100732247 100732247 single base substitution C T intron_variant SKCM-US 7 100732247 100732247 single base substitution C T missense_variant P552S 1654C>T SKCM-US 7 100732247 100732247 single base substitution C T upstream_gene_variant SKCM-US 7 100732537 100732537 single base substitution C T downstream_gene_variant SKCM-US 7 100732537 100732537 single base substitution C T intron_variant SKCM-US 7 100732537 100732537 single base substitution C T synonymous_variant F648F 1944C>T SKCM-US 7 100732537 100732537 single base substitution C T upstream_gene_variant SKCM-US 7 100732634 100732634 single base substitution C T downstream_gene_variant SKCM-US 7 100732634 100732634 single base substitution C T intron_variant SKCM-US 7 100732634 100732634 single base substitution C T missense_variant P681S 2041C>T SKCM-US 7 100732634 100732634 single base substitution C T upstream_gene_variant STAD-US 7 100731710 100731710 single base substitution C G downstream_gene_variant STAD-US 7 100731710 100731710 single base substitution C G intron_variant STAD-US 7 100731710 100731710 single base substitution C G missense_variant Q373E 1117C>G STAD-US 7 100731710 100731710 single base substitution C G upstream_gene_variant STAD-US 7 100732016 100732016 single base substitution A C downstream_gene_variant STAD-US 7 100732016 100732016 single base substitution A C intron_variant STAD-US 7 100732016 100732016 single base substitution A C missense_variant S475R 1423A>C STAD-US 7 100732016 100732016 single base substitution A C upstream_gene_variant STAD-US 7 100732110 100732110 single base substitution G A downstream_gene_variant STAD-US 7 100732110 100732110 single base substitution G A intron_variant STAD-US 7 100732110 100732110 single base substitution G A missense_variant R506Q 1517G>A STAD-US 7 100732110 100732110 single base substitution G A upstream_gene_variant STAD-US 7 100732113 100732113 deletion of <=200bp C - downstream_gene_variant STAD-US 7 100732113 100732113 deletion of <=200bp C - frameshift_variant S507 STAD-US 7 100732113 100732113 deletion of <=200bp C - intron_variant STAD-US 7 100732113 100732113 deletion of <=200bp C - upstream_gene_variant STAD-US 7 100732127 100732127 single base substitution G T downstream_gene_variant STAD-US 7 100732127 100732127 single base substitution G T intron_variant STAD-US 7 100732127 100732127 single base substitution G T missense_variant G512W 1534G>T STAD-US 7 100732127 100732127 single base substitution G T upstream_gene_variant STAD-US 7 100732344 100732344 single base substitution C T downstream_gene_variant STAD-US 7 100732344 100732344 single base substitution C T intron_variant STAD-US 7 100732344 100732344 single base substitution C T missense_variant A584V 1751C>T STAD-US 7 100732344 100732344 single base substitution C T upstream_gene_variant STAD-US 7 100732369 100732369 single base substitution C T downstream_gene_variant STAD-US 7 100732369 100732369 single base substitution C T intron_variant STAD-US 7 100732369 100732369 single base substitution C T synonymous_variant H592H 1776C>T STAD-US 7 100732369 100732369 single base substitution C T upstream_gene_variant STAD-US 7 100732461 100732461 single base substitution G A downstream_gene_variant STAD-US 7 100732461 100732461 single base substitution G A intron_variant STAD-US 7 100732461 100732461 single base substitution G A missense_variant R623Q 1868G>A STAD-US 7 100732461 100732461 single base substitution G A upstream_gene_variant STAD-US 7 100732838 100732838 single base substitution C T downstream_gene_variant STAD-US 7 100732838 100732838 single base substitution C T intron_variant STAD-US 7 100732838 100732838 single base substitution C T missense_variant R749W 2245C>T STAD-US 7 100732838 100732838 single base substitution C T upstream_gene_variant THCA-US 7 100732226 100732226 single base substitution C T downstream_gene_variant THCA-US 7 100732226 100732226 single base substitution C T intron_variant THCA-US 7 100732226 100732226 single base substitution C T missense_variant P545S 1633C>T THCA-US 7 100732226 100732226 single base substitution C T upstream_gene_variant UCEC-US 7 100731291 100731291 single base substitution C T downstream_gene_variant UCEC-US 7 100731291 100731291 single base substitution C T missense_variant A233V 698C>T UCEC-US 7 100731291 100731291 single base substitution C T upstream_gene_variant UCEC-US 7 100732045 100732045 single base substitution C A downstream_gene_variant UCEC-US 7 100732045 100732045 single base substitution C A intron_variant UCEC-US 7 100732045 100732045 single base substitution C A synonymous_variant G484G 1452C>A UCEC-US 7 100732045 100732045 single base substitution C A upstream_gene_variant UCEC-US 7 100732298 100732298 single base substitution C T downstream_gene_variant UCEC-US 7 100732298 100732298 single base substitution C T intron_variant UCEC-US 7 100732298 100732298 single base substitution C T missense_variant R569W 1705C>T UCEC-US 7 100732298 100732298 single base substitution C T upstream_gene_variant UCEC-US 7 100732537 100732537 single base substitution C T downstream_gene_variant UCEC-US 7 100732537 100732537 single base substitution C T intron_variant UCEC-US 7 100732537 100732537 single base substitution C T synonymous_variant F648F 1944C>T UCEC-US 7 100732537 100732537 single base substitution C T upstream_gene_variant UCEC-US 7 100732583 100732583 single base substitution C T downstream_gene_variant UCEC-US 7 100732583 100732583 single base substitution C T intron_variant UCEC-US 7 100732583 100732583 single base substitution C T synonymous_variant L664L 1990C>T UCEC-US 7 100732583 100732583 single base substitution C T upstream_gene_variant UCEC-US 7 100732713 100732713 single base substitution C T downstream_gene_variant UCEC-US 7 100732713 100732713 single base substitution C T intron_variant UCEC-US 7 100732713 100732713 single base substitution C T missense_variant P707L 2120C>T UCEC-US 7 100732713 100732713 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-46-3765-01 COSM743530 c.599A>C p.H200P Substitution - Missense 7:101087911-101087911 + 587278 COSM1230367 c.55C>A p.L19M Substitution - Missense 7:101087367-101087367 + CSCC-62-T COSM3876616 c.2245C>T p.R749W Substitution - Missense 7:101089557-101089557 + TCGA-GV-A40G-01 COSM3777956 c.711G>A p.E237E Substitution - coding silent 7:101088023-101088023 + TCGA-EA-A1QT-01 COSM461719 c.1530C>T p.I510I Substitution - coding silent 7:101088842-101088842 + TCGA-66-2781-01 COSM1150513 c.2233A>G p.I745V Substitution - Missense 7:101089545-101089545 + HCT-15 COSM1673404 c.2264G>T p.S755I Substitution - Missense 7:101089576-101089576 + TCGA-39-5030-01 COSM1150512 c.1067C>A p.P356H Substitution - Missense 7:101088379-101088379 + HN_63039 COSM122128 c.2187C>T p.T729T Substitution - coding silent 7:101089499-101089499 + AOCS-056-1-X COSM4153701 c.1091A>G p.H364R Substitution - Missense 7:101088403-101088403 + SW480 COSM3082743 c.462C>T p.A154A Substitution - coding silent 7:101087774-101087774 + UM-SCC-17B COSM1150511 c.599A>C p.H200P Substitution - Missense 7:101087911-101087911 + ESCC-178T COSM3941921 c.1896G>C p.R632R Substitution - coding silent 7:101089208-101089208 + TCGA-AZ-6601-01 COSM1446794 c.700C>T p.R234W Substitution - Missense 7:101088012-101088012 + 587268 COSM1230363 c.1439C>T p.P480L Substitution - Missense 7:101088751-101088751 + TCGA-AG-3732-01 COSM1568190 c.172G>T p.E58* Substitution - Nonsense 7:101087484-101087484 + Gp5D COSM3082771 c.1515G>T p.K505N Substitution - Missense 7:101088827-101088827 + TCGA-AY-6386-01 COSM452050 c.912C>G p.A304A Substitution - coding silent 7:101088224-101088224 + S02279 COSM5683836 c.1687G>T p.A563S Substitution - Missense 7:101088999-101088999 + 8016470 COSM3394414 c.153C>T p.G51G Substitution - coding silent 7:101087465-101087465 + TCGA-BR-6452-01 COSM3876611 c.1751C>T p.A584V Substitution - Missense 7:101089063-101089063 + TCGA-AA-3663-01 COSM3698061 c.1707G>A p.R569R Substitution - coding silent 7:101089019-101089019 + PTC-70C COSM4161666 c.878C>G p.A293G Substitution - Missense 7:101088190-101088190 + TCGA-A6-6781-01 COSM3698058 c.1630G>A p.V544M Substitution - Missense 7:101088942-101088942 + PT35 COSM5912714 c.1544C>T p.P515L Substitution - Missense 7:101088856-101088856 + TCGA-EE-A29Q-06 COSM3631314 c.1527G>A p.R509R Substitution - coding silent 7:101088839-101088839 + TCGA-AA-3663-01 COSM3762285 c.1728C>T p.N576N Substitution - coding silent 7:101089040-101089040 + TCGA-29-1777-01 COSM1330220 c.1700G>C p.S567T Substitution - Missense 7:101089012-101089012 + TCGA-EE-A2GP-06 COSM264193 c.1944C>T p.F648F Substitution - coding silent 7:101089256-101089256 + EGC15 COSM5062044 c.1951T>C p.S651P Substitution - Missense 7:101089263-101089263 + RMS112_ COSM4987779 c.1952C>T p.S651L Substitution - Missense 7:101089264-101089264 + STC232 COSM3082728 c.201C>T p.P67P Substitution - coding silent 7:101087513-101087513 + Gp5D COSM3082772 c.1515G>T p.K505N Substitution - Missense 7:101088827-101088827 + SC_9103 COSM4794005 c.1896G>A p.R632R Substitution - coding silent 7:101089208-101089208 + TCGA-ET-A39M-01 COSM3374429 c.1633C>T p.P545S Substitution - Missense 7:101088945-101088945 + TCGA-C5-A1MH-01 COSM4820929 c.291G>A p.G97G Substitution - coding silent 7:101087603-101087603 + LUAD-RT-S01702 COSM379432 c.21G>A p.S7S Substitution - coding silent 7:101087333-101087333 + PTC-53C COSM452050 c.912C>G p.A304A Substitution - coding silent 7:101088224-101088224 + SW403 COSM4358291 c.131G>T p.C44F Substitution - Missense 7:101087443-101087443 + BD22T COSM5508841 c.181G>T p.E61* Substitution - Nonsense 7:101087493-101087493 + TCGA-FR-A3R1-01 COSM3631316 c.1654C>T p.P552S Substitution - Missense 7:101088966-101088966 + TCGA-IR-A3LA-01 COSM4844627 c.1608C>G p.L536L Substitution - coding silent 7:101088920-101088920 + ESCC_17 COSM3082724 c.147G>A p.A49A Substitution - coding silent 7:101087459-101087459 + TCGA-EJ-7782-01 COSM3784030 c.1894C>T p.R632W Substitution - Missense 7:101089206-101089206 + Gp5D COSM3082721 c.107G>A p.C36Y Substitution - Missense 7:101087419-101087419 + 587278 COSM1230366 c.55C>A p.L19M Substitution - Missense 7:101087367-101087367 + TCGA-AF-6136-01 COSM1488072 c.912C>G p.A304A Substitution - coding silent 7:101088224-101088224 + TCGA-AO-A124-01 COSM1488071 c.49G>T p.D17Y Substitution - Missense 7:101087361-101087361 + TCGA-AA-3715-01 COSM5107754 c.179G>A p.R60H Substitution - Missense 7:101087491-101087491 + TCGA-AA-A01P-01 COSM5122450 c.2226C>T p.N742N Substitution - coding silent 7:101089538-101089538 + PD13760a COSM5786854 c.946G>C p.G316R Substitution - Missense 7:101088258-101088258 + 2492720 COSM5721033 c.1548C>T p.F516F Substitution - coding silent 7:101088860-101088860 + TCGA-AA-3663-01 COSM1446797 c.1184G>A p.R395Q Substitution - Missense 7:101088496-101088496 + 2290930 COSM4440135 c.246G>T p.L82L Substitution - coding silent 7:101087558-101087558 + TCGA-BR-7707-01 COSM3876608 c.1534G>T p.G512W Substitution - Missense 7:101088846-101088846 + CHC1626T COSM4791680 c.1542T>G p.C514W Substitution - Missense 7:101088854-101088854 + RK178_C01 COSM3745433 c.1919T>A p.L640Q Substitution - Missense 7:101089231-101089231 + sysucc-1365T COSM1488072 c.912C>G p.A304A Substitution - coding silent 7:101088224-101088224 + TCGA-AP-A059-01 COSM1083364 c.1705C>T p.R569W Substitution - Missense 7:101089017-101089017 + HCT15 COSM1673404 c.2264G>T p.S755I Substitution - Missense 7:101089576-101089576 + CHC1626T COSM4791679 c.1542T>G p.C514W Substitution - Missense 7:101088854-101088854 + TCGA-GN-A266-06 COSM3631304 c.31C>T p.L11L Substitution - coding silent 7:101087343-101087343 + T3190 COSM4736169 c.1819G>T p.V607L Substitution - Missense 7:101089131-101089131 + TCGA-DA-A1HY-06 COSM3631313 c.1069G>A p.G357R Substitution - Missense 7:101088381-101088381 + TCGA-46-3765-01 COSM1150511 c.599A>C p.H200P Substitution - Missense 7:101087911-101087911 + ESO-0292 COSM1241850 c.1614C>T p.G538G Substitution - coding silent 7:101088926-101088926 + T3454 COSM4736160 c.603C>G p.P201P Substitution - coding silent 7:101087915-101087915 + 8047913 COSM3394416 c.570A>T p.R190S Substitution - Missense 7:101087882-101087882 + CHC1626T COSM4791680 c.1542T>G p.C514W Substitution - Missense 7:101088854-101088854 + ESO-1594 COSM1268562 c.1560G>C p.E520D Substitution - Missense 7:101088872-101088872 + ORL-48 COSM3631309 c.475G>A p.E159K Substitution - Missense 7:101087787-101087787 + TCGA-D8-A1Y1-01 COSM1488076 c.1534G>A p.G512R Substitution - Missense 7:101088846-101088846 + NB1488 COSM5703344 c.977G>C p.G326A Substitution - Missense 7:101088289-101088289 + 11M COSM5577150 c.2250C>T p.V750V Substitution - coding silent 7:101089562-101089562 + WT052-T2 COSM4820929 c.291G>A p.G97G Substitution - coding silent 7:101087603-101087603 + SW403 COSM4358292 c.131G>T p.C44F Substitution - Missense 7:101087443-101087443 + SW480 COSM3082744 c.462C>T p.A154A Substitution - coding silent 7:101087774-101087774 + BD180T COSM5495054 c.1831G>T p.V611L Substitution - Missense 7:101089143-101089143 + CHC1566T COSM4788778 c.637A>G p.R213G Substitution - Missense 7:101087949-101087949 + T3203 COSM4736165 c.1683G>A p.A561A Substitution - coding silent 7:101088995-101088995 + 101 COSM5014721 c.37G>T p.A13S Substitution - Missense 7:101087349-101087349 + HCC106 COSM1622126 c.1297C>G p.Q433E Substitution - Missense 7:101088609-101088609 + SC_9109 COSM3082823 c.2211C>T p.V737V Substitution - coding silent 7:101089523-101089523 + TCGA-AA-3489-01 COSM5096778 c.1598G>A p.R533H Substitution - Missense 7:101088910-101088910 + 2290930 COSM4440136 c.246G>T p.L82L Substitution - coding silent 7:101087558-101087558 + TCGA-BR-6852-01 COSM3876605 c.1423A>C p.S475R Substitution - Missense 7:101088735-101088735 + B86 COSM1754990 c.98C>A p.T33K Substitution - Missense 7:101087410-101087410 + TCGA-BR-8078-01 COSM3876602 c.1117C>G p.Q373E Substitution - Missense 7:101088429-101088429 + T3058 COSM4736162 c.635G>A p.R212Q Substitution - Missense 7:101087947-101087947 + 413LT COSM3784031 c.1894C>T p.R632W Substitution - Missense 7:101089206-101089206 + TCGA-BS-A0UF-01 COSM1596587 c.1944C>T p.F648F Substitution - coding silent 7:101089256-101089256 + Gp2D COSM3082771 c.1515G>T p.K505N Substitution - Missense 7:101088827-101088827 + PT35 COSM5912713 c.1544C>T p.P515L Substitution - Missense 7:101088856-101088856 + PD2157a COSM30527 c.2094_2095insA p.V699fs*44 Insertion - Frameshift 7:101089406-101089407 + RMS112_ COSM4987778 c.1952C>T p.S651L Substitution - Missense 7:101089264-101089264 + TCGA-B5-A11E-01 COSM1083362 c.1452C>A p.G484G Substitution - coding silent 7:101088764-101088764 + S02279 COSM5683835 c.1687G>T p.A563S Substitution - Missense 7:101088999-101088999 + T368 COSM3394414 c.153C>T p.G51G Substitution - coding silent 7:101087465-101087465 + TCGA-C5-A1BL-01 COSM1547553 c.397G>T p.D133Y Substitution - Missense 7:101087709-101087709 + CHC892T COSM4794005 c.1896G>A p.R632R Substitution - coding silent 7:101089208-101089208 + CSCC-4-T COSM4515910 c.1420_1421CC>TT p.P474F Substitution - Missense 7:101088732-101088733 + 2492721 COSM5721033 c.1548C>T p.F516F Substitution - coding silent 7:101088860-101088860 + T2932 COSM4736167 c.1733A>G p.E578G Substitution - Missense 7:101089045-101089045 + LUAD-YINHD COSM351471 c.1499G>T p.R500L Substitution - Missense 7:101088811-101088811 + CHC1566T COSM4788778 c.637A>G p.R213G Substitution - Missense 7:101087949-101087949 + 2293776 COSM4607960 c.1080C>A p.D360E Substitution - Missense 7:101088392-101088392 + RK056_C01 COSM1635013 c.1655C>T p.P552L Substitution - Missense 7:101088967-101088967 + TCGA-AY-6386-01 COSM1488072 c.912C>G p.A304A Substitution - coding silent 7:101088224-101088224 + SC_9109 COSM3082824 c.2211C>T p.V737V Substitution - coding silent 7:101089523-101089523 + CSCC-4-T COSM4515909 c.1420_1421CC>TT p.P474F Substitution - Missense 7:101088732-101088733 + TCGA-DK-A3IM-01 COSM1312531 c.265C>T p.R89W Substitution - Missense 7:101087577-101087577 + PCSI_0281_Pa_P_526 COSM3781230 c.1075C>T p.L359L Substitution - coding silent 7:101088387-101088387 + TCGA-NH-A5IV-01 COSM5181646 c.337delG p.P115fs*80 Deletion - Frameshift 7:101087649-101087649 + TCGA-AA-3715-01 COSM270396 c.2096T>C p.V699A Substitution - Missense 7:101089408-101089408 + TCGA-AY-6196-01 COSM3762285 c.1728C>T p.N576N Substitution - coding silent 7:101089040-101089040 + T3058 COSM4736161 c.635G>A p.R212Q Substitution - Missense 7:101087947-101087947 + 3N02-VS-3T02 COSM4978546 c.2066A>T p.K689M Substitution - Missense 7:101089378-101089378 + TCGA-GV-A40G-01 COSM3777957 c.711G>A p.E237E Substitution - coding silent 7:101088023-101088023 + TCGA-AA-3966-01 COSM297211 c.1744C>T p.R582C Substitution - Missense 7:101089056-101089056 + TCGA-EB-A5UL-06 COSM3631310 c.606C>T p.C202C Substitution - coding silent 7:101087918-101087918 + HCC019T COSM5820381 c.1191G>A p.E397E Substitution - coding silent 7:101088503-101088503 + 2171663 COSM4423094 c.1183C>T p.R395W Substitution - Missense 7:101088495-101088495 + BD22T COSM5508840 c.181G>T p.E61* Substitution - Nonsense 7:101087493-101087493 + TCGA-A8-A09Z-01 COSM3831458 c.1806C>T p.R602R Substitution - coding silent 7:101089118-101089118 + TCGA-AP-A059-01 COSM1596586 c.1990C>T p.L664L Substitution - coding silent 7:101089302-101089302 + PCSI_0281_Pa_P_526 COSM3781229 c.1075C>T p.L359L Substitution - coding silent 7:101088387-101088387 + C008 COSM5524085 c.852C>T p.A284A Substitution - coding silent 7:101088164-101088164 + TCGA-BR-8591-01 COSM3876617 c.2245C>T p.R749W Substitution - Missense 7:101089557-101089557 + T3190 COSM4736170 c.1819G>T p.V607L Substitution - Missense 7:101089131-101089131 + SW620 COSM3082744 c.462C>T p.A154A Substitution - coding silent 7:101087774-101087774 + TCGA-G4-6628-01 COSM1446790 c.196C>T p.P66S Substitution - Missense 7:101087508-101087508 + SNU-175 COSM3082779 c.1628C>T p.T543I Substitution - Missense 7:101088940-101088940 + Pat_24_A COSM5871380 c.566G>T p.C189F Substitution - Missense 7:101087878-101087878 + CHC892T COSM4794006 c.1896G>A p.R632R Substitution - coding silent 7:101089208-101089208 + 587284 COSM1230368 c.980C>T p.A327V Substitution - Missense 7:101088292-101088292 + TCGA-CD-A4MI-01 COSM3876614 c.1868G>A p.R623Q Substitution - Missense 7:101089180-101089180 + CHC892T COSM4794005 c.1896G>A p.R632R Substitution - coding silent 7:101089208-101089208 + AOCS-155-3-5 COSM4153704 c.1912G>T p.V638L Substitution - Missense 7:101089224-101089224 + CHC892T COSM4794006 c.1896G>A p.R632R Substitution - coding silent 7:101089208-101089208 + YUKAT COSM5406081 c.1922C>T p.T641I Substitution - Missense 7:101089234-101089234 + Pat_24_A COSM5871381 c.566G>T p.C189F Substitution - Missense 7:101087878-101087878 + TCGA-G4-6628-01 COSM1446791 c.196C>T p.P66S Substitution - Missense 7:101087508-101087508 + 587268 COSM1230362 c.1439C>T p.P480L Substitution - Missense 7:101088751-101088751 + MZ7-mel COSM24039 c.519C>T p.P173P Substitution - coding silent 7:101087831-101087831 + TCGA-CF-A1HR-01 COSM421659 c.1057G>C p.E353Q Substitution - Missense 7:101088369-101088369 + AOCS-056-1-X COSM4153702 c.1091A>G p.H364R Substitution - Missense 7:101088403-101088403 + 8057643 COSM4139320 c.1948G>C p.G650R Substitution - Missense 7:101089260-101089260 + 2_RESISTANT COSM1722845 c.1930C>T p.P644S Substitution - Missense 7:101089242-101089242 + ORL-48 COSM743530 c.599A>C p.H200P Substitution - Missense 7:101087911-101087911 + TCGA-AA-3492-01 COSM1446804 c.2252G>A p.R751H Substitution - Missense 7:101089564-101089564 + TCGA-DA-A1HY-06 COSM3631312 c.1069G>A p.G357R Substitution - Missense 7:101088381-101088381 + BHY COSM3082759 c.1342G>C p.G448R Substitution - Missense 7:101088654-101088654 + TCGA-DZ-6132-01 COSM3995204 c.1762T>C p.S588P Substitution - Missense 7:101089074-101089074 + HCC106 COSM1622125 c.1297C>G p.Q433E Substitution - Missense 7:101088609-101088609 + HCT-15 COSM1673403 c.2264G>T p.S755I Substitution - Missense 7:101089576-101089576 + T407 COSM1446790 c.196C>T p.P66S Substitution - Missense 7:101087508-101087508 + TCGA-AM-5820-01 COSM3698062 c.2005G>A p.G669R Substitution - Missense 7:101089317-101089317 + 3N29-VS-3T29 COSM4980510 c.2042C>T p.P681L Substitution - Missense 7:101089354-101089354 + SNU-175 COSM4650729 c.745G>A p.A249T Substitution - Missense 7:101088057-101088057 + TCGA-AP-A059-01 COSM1083367 c.1990C>T p.L664L Substitution - coding silent 7:101089302-101089302 + 2171663 COSM4423095 c.1183C>T p.R395W Substitution - Missense 7:101088495-101088495 + BD180T COSM5495055 c.1831G>T p.V611L Substitution - Missense 7:101089143-101089143 + sysucc-1370T COSM5472316 c.925G>A p.A309T Substitution - Missense 7:101088237-101088237 + UM-SCC-17B COSM743530 c.599A>C p.H200P Substitution - Missense 7:101087911-101087911 + B86 COSM1754989 c.98C>A p.T33K Substitution - Missense 7:101087410-101087410 + C008 COSM5524084 c.852C>T p.A284A Substitution - coding silent 7:101088164-101088164 + TCGA-BR-7707-01 COSM3876609 c.1534G>T p.G512W Substitution - Missense 7:101088846-101088846 + TCGA-RC-A7SF-01 COSM1241850 c.1614C>T p.G538G Substitution - coding silent 7:101088926-101088926 + 587376 COSM1230371 c.985G>A p.A329T Substitution - Missense 7:101088297-101088297 + Gp2D COSM3082772 c.1515G>T p.K505N Substitution - Missense 7:101088827-101088827 + ESO-1594 COSM1268561 c.1560G>C p.E520D Substitution - Missense 7:101088872-101088872 + TCGA-29-1777-01 COSM1330219 c.1700G>C p.S567T Substitution - Missense 7:101089012-101089012 + SC_9103 COSM4794006 c.1896G>A p.R632R Substitution - coding silent 7:101089208-101089208 + RK135_C01 COSM3745430 c.1798G>A p.G600R Substitution - Missense 7:101089110-101089110 + TCGA-A8-A06X-01 COSM452052 c.1525C>G p.R509G Substitution - Missense 7:101088837-101088837 + TCGA-FW-A3R5-06 COSM3631307 c.234C>T p.F78F Substitution - coding silent 7:101087546-101087546 + TCGA-RC-A7SF-01 COSM1241851 c.1614C>T p.G538G Substitution - coding silent 7:101088926-101088926 + TCGA-EA-A1QT-01 COSM1134596 c.1530C>T p.I510I Substitution - coding silent 7:101088842-101088842 + TCGA-GF-A4EO-06 COSM3631309 c.475G>A p.E159K Substitution - Missense 7:101087787-101087787 + 587284 COSM1230369 c.980C>T p.A327V Substitution - Missense 7:101088292-101088292 + HCC106T COSM1622126 c.1297C>G p.Q433E Substitution - Missense 7:101088609-101088609 + CRC-02T COSM5455533 c.640C>T p.P214S Substitution - Missense 7:101087952-101087952 + TCGA-CF-A1HR-01 COSM1133794 c.1057G>C p.E353Q Substitution - Missense 7:101088369-101088369 + 587228 COSM1230365 c.1597C>T p.R533C Substitution - Missense 7:101088909-101088909 + Pat_50_A COSM5871384 c.2017G>A p.G673R Substitution - Missense 7:101089329-101089329 + 2492723 COSM5721033 c.1548C>T p.F516F Substitution - coding silent 7:101088860-101088860 + ORL-48 COSM1150511 c.599A>C p.H200P Substitution - Missense 7:101087911-101087911 + TCGA-AO-A12E-01 COSM264193 c.1944C>T p.F648F Substitution - coding silent 7:101089256-101089256 + TCGA-BS-A0UF-01 COSM264193 c.1944C>T p.F648F Substitution - coding silent 7:101089256-101089256 + TCGA-H4-A2HQ-01 COSM1312529 c.42G>A p.L14L Substitution - coding silent 7:101087354-101087354 + 3N02-VS-3T02 COSM4978545 c.2066A>T p.K689M Substitution - Missense 7:101089378-101089378 + HDC90 COSM4637499 c.1204A>G p.T402A Substitution - Missense 7:101088516-101088516 + CHC361TA COSM1236657 c.1148G>T p.G383V Substitution - Missense 7:101088460-101088460 + TCGA-D3-A3ML-06 COSM3631307 c.234C>T p.F78F Substitution - coding silent 7:101087546-101087546 + TCGA-A6-6781-01 COSM3698059 c.1630G>A p.V544M Substitution - Missense 7:101088942-101088942 + TCGA-AA-3492-01 COSM1446803 c.2252G>A p.R751H Substitution - Missense 7:101089564-101089564 + RK135_C01 COSM3745431 c.1798G>A p.G600R Substitution - Missense 7:101089110-101089110 + TCGA-AA-3663-01 COSM3698060 c.1707G>A p.R569R Substitution - coding silent 7:101089019-101089019 + TCGA-GF-A4EO-06 COSM3631308 c.475G>A p.E159K Substitution - Missense 7:101087787-101087787 + NB2272T COSM1236658 c.1148G>T p.G383V Substitution - Missense 7:101088460-101088460 + TCGA-AA-3663-01 COSM3762286 c.1728C>T p.N576N Substitution - coding silent 7:101089040-101089040 + SC_9008 COSM5191707 c.289G>A p.G97R Substitution - Missense 7:101087601-101087601 + PCSI_0084_Pa_P_526 COSM3381720 c.578G>A p.R193H Substitution - Missense 7:101087890-101087890 + Gp5D COSM3082776 c.1520C>A p.S507Y Substitution - Missense 7:101088832-101088832 + 101 COSM5014722 c.37G>T p.A13S Substitution - Missense 7:101087349-101087349 + TCGA-DH-5142-01 COSM3928694 c.1667C>T p.A556V Substitution - Missense 7:101088979-101088979 + 11M COSM5577151 c.2250C>T p.V750V Substitution - coding silent 7:101089562-101089562 + TCGA-B0-4845-01 COSM3774273 c.1155T>G p.G385G Substitution - coding silent 7:101088467-101088467 + Pat_50_A COSM5871385 c.2017G>A p.G673R Substitution - Missense 7:101089329-101089329 + PTC-515C COSM1150511 c.599A>C p.H200P Substitution - Missense 7:101087911-101087911 + TCGA-66-2781-01 COSM743528 c.2233A>G p.I745V Substitution - Missense 7:101089545-101089545 + 19M COSM3082811 c.1918C>T p.L640L Substitution - coding silent 7:101089230-101089230 + SM-4AX85 COSM4409364 c.878C>T p.A293V Substitution - Missense 7:101088190-101088190 + CSCC-62-T COSM3876617 c.2245C>T p.R749W Substitution - Missense 7:101089557-101089557 + BD6T COSM5498977 c.85C>T p.R29W Substitution - Missense 7:101087397-101087397 + ICGC_PA27 COSM3670368 c.347C>T p.A116V Substitution - Missense 7:101087659-101087659 + ORL-48 COSM3631308 c.475G>A p.E159K Substitution - Missense 7:101087787-101087787 + SCC-15 COSM743530 c.599A>C p.H200P Substitution - Missense 7:101087911-101087911 + WT052-T2 COSM4820928 c.291G>A p.G97G Substitution - coding silent 7:101087603-101087603 + TCGA-AY-6196-01 COSM3762286 c.1728C>T p.N576N Substitution - coding silent 7:101089040-101089040 + STC232 COSM3082727 c.201C>T p.P67P Substitution - coding silent 7:101087513-101087513 + CHC674T COSM3669667 c.906C>T p.A302A Substitution - coding silent 7:101088218-101088218 + TCGA-CG-5728-01 COSM3876613 c.1776C>T p.H592H Substitution - coding silent 7:101089088-101089088 + HCC106T COSM1622125 c.1297C>G p.Q433E Substitution - Missense 7:101088609-101088609 + TCGA-AU-3779-01 COSM1446796 c.1146C>T p.D382D Substitution - coding silent 7:101088458-101088458 + PTC-515C COSM743530 c.599A>C p.H200P Substitution - Missense 7:101087911-101087911 + RK056_C01 COSM1635014 c.1655C>T p.P552L Substitution - Missense 7:101088967-101088967 + Pat_41_B COSM5871383 c.1730G>A p.G577D Substitution - Missense 7:101089042-101089042 + ESO-0292 COSM1241851 c.1614C>T p.G538G Substitution - coding silent 7:101088926-101088926 + TCGA-AP-A059-01 COSM1083360 c.698C>T p.A233V Substitution - Missense 7:101088010-101088010 + PTC-53C COSM1488072 c.912C>G p.A304A Substitution - coding silent 7:101088224-101088224 + 587376 COSM1230370 c.985G>A p.A329T Substitution - Missense 7:101088297-101088297 + TCGA-D8-A1Y1-01 COSM1488075 c.1534G>A p.G512R Substitution - Missense 7:101088846-101088846 + TCGA-AA-3663-01 COSM1446798 c.1184G>A p.R395Q Substitution - Missense 7:101088496-101088496 + T368 COSM3394415 c.153C>T p.G51G Substitution - coding silent 7:101087465-101087465 + TCGA-AO-A12E-01 COSM1596587 c.1944C>T p.F648F Substitution - coding silent 7:101089256-101089256 + TCGA-A8-A06X-01 COSM1488074 c.1525C>G p.R509G Substitution - Missense 7:101088837-101088837 + ESO-0001 COSM1268559 c.1237G>A p.G413R Substitution - Missense 7:101088549-101088549 + TCGA-A8-A09Z-01 COSM3831457 c.1806C>T p.R602R Substitution - coding silent 7:101089118-101089118 + LUAD-RT-S01777 COSM382500 c.977G>C p.G326A Substitution - Missense 7:101088289-101088289 + Gp5D COSM3082775 c.1520C>A p.S507Y Substitution - Missense 7:101088832-101088832 + SNU-175 COSM4650728 c.745G>A p.A249T Substitution - Missense 7:101088057-101088057 + PTC-70C COSM4161665 c.878C>G p.A293G Substitution - Missense 7:101088190-101088190 + Gp2D COSM3082722 c.107G>A p.C36Y Substitution - Missense 7:101087419-101087419 + TCGA-FW-A3R5-06 COSM3631306 c.234C>T p.F78F Substitution - coding silent 7:101087546-101087546 + TCGA-GN-A266-06 COSM3631305 c.31C>T p.L11L Substitution - coding silent 7:101087343-101087343 + TCGA-AP-A059-01 COSM1596590 c.698C>T p.A233V Substitution - Missense 7:101088010-101088010 + CHC1566T COSM4788777 c.637A>G p.R213G Substitution - Missense 7:101087949-101087949 + PD9064a COSM5775733 c.348C>A p.A116A Substitution - coding silent 7:101087660-101087660 + PTC-1C COSM452050 c.912C>G p.A304A Substitution - coding silent 7:101088224-101088224 + PD13760a COSM5786853 c.946G>C p.G316R Substitution - Missense 7:101088258-101088258 + 413LT COSM3784030 c.1894C>T p.R632W Substitution - Missense 7:101089206-101089206 + TCGA-WS-AB45-01 COSM5191708 c.289G>A p.G97R Substitution - Missense 7:101087601-101087601 + TCGA-AP-A059-01 COSM1596588 c.1705C>T p.R569W Substitution - Missense 7:101089017-101089017 + TCGA-AG-A002-01 COSM264193 c.1944C>T p.F648F Substitution - coding silent 7:101089256-101089256 + LUAD-2GUGK COSM400683 c.304G>T p.A102S Substitution - Missense 7:101087616-101087616 + TCGA-AG-3732-01 COSM1568191 c.172G>T p.E58* Substitution - Nonsense 7:101087484-101087484 + 2492722 COSM5721032 c.1548C>T p.F516F Substitution - coding silent 7:101088860-101088860 + WSU-HN6 COSM1150511 c.599A>C p.H200P Substitution - Missense 7:101087911-101087911 + 8057643 COSM4139319 c.1948G>C p.G650R Substitution - Missense 7:101089260-101089260 + TCGA-IR-A3LA-01 COSM4844628 c.1608C>G p.L536L Substitution - coding silent 7:101088920-101088920 + 2492722 COSM5721033 c.1548C>T p.F516F Substitution - coding silent 7:101088860-101088860 + TCGA-FP-A4BE-01 COSM3876606 c.1517G>A p.R506Q Substitution - Missense 7:101088829-101088829 + CSCC-41-T COSM4469560 c.1604C>T p.S535F Substitution - Missense 7:101088916-101088916 + Gp2D COSM3082775 c.1520C>A p.S507Y Substitution - Missense 7:101088832-101088832 + WSU-HN6 COSM743530 c.599A>C p.H200P Substitution - Missense 7:101087911-101087911 + T1154 COSM4736163 c.1402A>G p.K468E Substitution - Missense 7:101088714-101088714 + TCGA-EB-A5UL-06 COSM3631311 c.606C>T p.C202C Substitution - coding silent 7:101087918-101087918 + YUGATOR COSM5406079 c.30C>T p.L10L Substitution - coding silent 7:101087342-101087342 + TCGA-DZ-6132-01 COSM3995203 c.1762T>C p.S588P Substitution - Missense 7:101089074-101089074 + 19 COSM5746782 c.1595A>G p.K532R Substitution - Missense 7:101088907-101088907 + TCGA-G4-6320-01 COSM3082727 c.201C>T p.P67P Substitution - coding silent 7:101087513-101087513 + CHC361TA COSM1236657 c.1148G>T p.G383V Substitution - Missense 7:101088460-101088460 + T1154 COSM4736164 c.1402A>G p.K468E Substitution - Missense 7:101088714-101088714 + CHC1626T COSM4791679 c.1542T>G p.C514W Substitution - Missense 7:101088854-101088854 + SM-4AX85 COSM4409365 c.878C>T p.A293V Substitution - Missense 7:101088190-101088190 + S00472 COSM5657965 c.1585C>T p.R529W Substitution - Missense 7:101088897-101088897 + T25 COSM5345228 c.1634C>T p.P545L Substitution - Missense 7:101088946-101088946 + 2492721 COSM5721032 c.1548C>T p.F516F Substitution - coding silent 7:101088860-101088860 + Gp5D COSM3082722 c.107G>A p.C36Y Substitution - Missense 7:101087419-101087419 + TCGA-AO-A124-01 COSM452049 c.49G>T p.D17Y Substitution - Missense 7:101087361-101087361 + PCSI_0084_Pa_P_526 COSM3381721 c.578G>A p.R193H Substitution - Missense 7:101087890-101087890 + ESO-0001 COSM1268560 c.1237G>A p.G413R Substitution - Missense 7:101088549-101088549 + CHC361TA COSM1236658 c.1148G>T p.G383V Substitution - Missense 7:101088460-101088460 + CHC361TA COSM1236658 c.1148G>T p.G383V Substitution - Missense 7:101088460-101088460 + T407 COSM1446791 c.196C>T p.P66S Substitution - Missense 7:101087508-101087508 + 2_PRE-TREATMENT COSM1722845 c.1930C>T p.P644S Substitution - Missense 7:101089242-101089242 + TCGA-DK-A3IM-01 COSM1312532 c.265C>T p.R89W Substitution - Missense 7:101087577-101087577 + Br27P COSM40716 c.1066C>T p.P356S Substitution - Missense 7:101088378-101088378 + ICGC_PA27 COSM3670367 c.347C>T p.A116V Substitution - Missense 7:101087659-101087659 + SCC-15 COSM1150511 c.599A>C p.H200P Substitution - Missense 7:101087911-101087911 + BD6T COSM5498976 c.85C>T p.R29W Substitution - Missense 7:101087397-101087397 + ESCC-178T COSM3941922 c.1896G>C p.R632R Substitution - coding silent 7:101089208-101089208 + sysucc-1370T COSM5472315 c.925G>A p.A309T Substitution - Missense 7:101088237-101088237 + PD4002a COSM165140 c.1710C>T p.L570L Substitution - coding silent 7:101089022-101089022 + SW620 COSM3082743 c.462C>T p.A154A Substitution - coding silent 7:101087774-101087774 + SC_9008 COSM5191708 c.289G>A p.G97R Substitution - Missense 7:101087601-101087601 + TCGA-G4-6320-01 COSM3082728 c.201C>T p.P67P Substitution - coding silent 7:101087513-101087513 + TCGA-AA-3662-01 COSM452050 c.912C>G p.A304A Substitution - coding silent 7:101088224-101088224 + TCGA-EE-A3AG-06 COSM3631318 c.2041C>T p.P681S Substitution - Missense 7:101089353-101089353 + TCGA-BR-8591-01 COSM3876616 c.2245C>T p.R749W Substitution - Missense 7:101089557-101089557 + TCGA-D1-A17Q-01 COSM1596585 c.2120C>T p.P707L Substitution - Missense 7:101089432-101089432 + T3203 COSM4736166 c.1683G>A p.A561A Substitution - coding silent 7:101088995-101088995 + TCGA-BR-6452-01 COSM3876610 c.1751C>T p.A584V Substitution - Missense 7:101089063-101089063 + 2492720 COSM5721032 c.1548C>T p.F516F Substitution - coding silent 7:101088860-101088860 + TCGA-EE-A2GP-06 COSM1596587 c.1944C>T p.F648F Substitution - coding silent 7:101089256-101089256 + TCGA-EE-A29Q-06 COSM3631315 c.1527G>A p.R509R Substitution - coding silent 7:101088839-101088839 + T2932 COSM4736168 c.1733A>G p.E578G Substitution - Missense 7:101089045-101089045 + TCGA-B5-A11E-01 COSM1596589 c.1452C>A p.G484G Substitution - coding silent 7:101088764-101088764 + CHC674T COSM3669668 c.906C>T p.A302A Substitution - coding silent 7:101088218-101088218 + HCC019T COSM5820380 c.1191G>A p.E397E Substitution - coding silent 7:101088503-101088503 + 3N29-VS-3T29 COSM4980511 c.2042C>T p.P681L Substitution - Missense 7:101089354-101089354 + TCGA-BR-8078-01 COSM3876603 c.1117C>G p.Q373E Substitution - Missense 7:101088429-101088429 + TCGA-CM-6680-01 COSM3762286 c.1728C>T p.N576N Substitution - coding silent 7:101089040-101089040 + TCGA-A6-5666-01 COSM1446802 c.1864A>T p.T622S Substitution - Missense 7:101089176-101089176 + PTC-1C COSM1488072 c.912C>G p.A304A Substitution - coding silent 7:101088224-101088224 + EGC15 COSM5062043 c.1951T>C p.S651P Substitution - Missense 7:101089263-101089263 + TCGA-AF-6136-01 COSM452050 c.912C>G p.A304A Substitution - coding silent 7:101088224-101088224 + NB2272T COSM1236657 c.1148G>T p.G383V Substitution - Missense 7:101088460-101088460 + HDC90 COSM4637500 c.1204A>G p.T402A Substitution - Missense 7:101088516-101088516 + LUAD-YINHD COSM351470 c.1259A>T p.K420I Substitution - Missense 7:101088571-101088571 + 19M COSM3082812 c.1918C>T p.L640L Substitution - coding silent 7:101089230-101089230 + PCSI_0084_Pa_X COSM3381720 c.578G>A p.R193H Substitution - Missense 7:101087890-101087890 + TCGA-D1-A17Q-01 COSM1083369 c.2120C>T p.P707L Substitution - Missense 7:101089432-101089432 + CSCC-41-T COSM4469561 c.1604C>T p.S535F Substitution - Missense 7:101088916-101088916 + TCGA-C5-A1MH-01 COSM4820928 c.291G>A p.G97G Substitution - coding silent 7:101087603-101087603 + TCGA-AZ-6601-01 COSM1446793 c.700C>T p.R234W Substitution - Missense 7:101088012-101088012 + TCGA-AA-3662-01 COSM1488072 c.912C>G p.A304A Substitution - coding silent 7:101088224-101088224 + TCGA-CD-A4MI-01 COSM3876615 c.1868G>A p.R623Q Substitution - Missense 7:101089180-101089180 + Pat_41_B COSM5871382 c.1730G>A p.G577D Substitution - Missense 7:101089042-101089042 + 8047913 COSM3394417 c.570A>T p.R190S Substitution - Missense 7:101087882-101087882 + CHC1566T COSM4788777 c.637A>G p.R213G Substitution - Missense 7:101087949-101087949 + TCGA-ET-A39M-01 COSM3374428 c.1633C>T p.P545S Substitution - Missense 7:101088945-101088945 + TCGA-DH-5142-01 COSM3928693 c.1667C>T p.A556V Substitution - Missense 7:101088979-101088979 + TCGA-A6-5666-01 COSM1446801 c.1864A>T p.T622S Substitution - Missense 7:101089176-101089176 + AOCS-155-3-5 COSM4153703 c.1912G>T p.V638L Substitution - Missense 7:101089224-101089224 + 2_PRE-TREATMENT COSM1722846 c.1930C>T p.P644S Substitution - Missense 7:101089242-101089242 + TCGA-H4-A2HQ-01 COSM1312530 c.42G>A p.L14L Substitution - coding silent 7:101087354-101087354 + TCGA-39-5030-01 COSM743529 c.1067C>A p.P356H Substitution - Missense 7:101088379-101088379 + Gp2D COSM3082721 c.107G>A p.C36Y Substitution - Missense 7:101087419-101087419 + ESCC_17 COSM3082723 c.147G>A p.A49A Substitution - coding silent 7:101087459-101087459 + YUKAT COSM5406080 c.1922C>T p.T641I Substitution - Missense 7:101089234-101089234 + TCGA-AM-5820-01 COSM3698063 c.2005G>A p.G669R Substitution - Missense 7:101089317-101089317 + TCGA-FP-A4BE-01 COSM3876607 c.1517G>A p.R506Q Substitution - Missense 7:101088829-101088829 + T3454 COSM4736159 c.603C>G p.P201P Substitution - coding silent 7:101087915-101087915 + TCGA-CM-6680-01 COSM3762285 c.1728C>T p.N576N Substitution - coding silent 7:101089040-101089040 + 19 COSM5746781 c.1595A>G p.K532R Substitution - Missense 7:101088907-101088907 + HCT15 COSM1673403 c.2264G>T p.S755I Substitution - Missense 7:101089576-101089576 + RK178_C01 COSM3745432 c.1919T>A p.L640Q Substitution - Missense 7:101089231-101089231 + TCGA-BR-6852-01 COSM3876604 c.1423A>C p.S475R Substitution - Missense 7:101088735-101088735 + TCGA-EE-A3AG-06 COSM3631319 c.2041C>T p.P681S Substitution - Missense 7:101089353-101089353 + PD9064a COSM5775734 c.348C>A p.A116A Substitution - coding silent 7:101087660-101087660 + YUGATOR COSM5406078 c.30C>T p.L10L Substitution - coding silent 7:101087342-101087342 + 2_RESISTANT COSM1722846 c.1930C>T p.P644S Substitution - Missense 7:101089242-101089242 + CRC-02T COSM5455532 c.640C>T p.P214S Substitution - Missense 7:101087952-101087952 + S00472 COSM5657964 c.1585C>T p.R529W Substitution - Missense 7:101088897-101088897 + 2293776 COSM4607961 c.1080C>A p.D360E Substitution - Missense 7:101088392-101088392 + BHY COSM3082760 c.1342G>C p.G448R Substitution - Missense 7:101088654-101088654 + 8016470 COSM3394415 c.153C>T p.G51G Substitution - coding silent 7:101087465-101087465 + sysucc-1365T COSM452050 c.912C>G p.A304A Substitution - coding silent 7:101088224-101088224 + TCGA-B0-4845-01 COSM3774272 c.1155T>G p.G385G Substitution - coding silent 7:101088467-101088467 + T25 COSM5345229 c.1634C>T p.P545L Substitution - Missense 7:101088946-101088946 + TCGA-EJ-7782-01 COSM3784031 c.1894C>T p.R632W Substitution - Missense 7:101089206-101089206 + LUAD-5V8LT COSM402914 c.749G>T p.R250L Substitution - Missense 7:101088061-101088061 + NB1488 COSM382500 c.977G>C p.G326A Substitution - Missense 7:101088289-101088289 + 587228 COSM1230364 c.1597C>T p.R533C Substitution - Missense 7:101088909-101088909 + PCSI_0084_Pa_X COSM3381721 c.578G>A p.R193H Substitution - Missense 7:101087890-101087890 + TCGA-D3-A3ML-06 COSM3631306 c.234C>T p.F78F Substitution - coding silent 7:101087546-101087546 + Gp2D COSM3082776 c.1520C>A p.S507Y Substitution - Missense 7:101088832-101088832 + SNU-175 COSM3082780 c.1628C>T p.T543I Substitution - Missense 7:101088940-101088940 + TCGA-AA-3510-01 COSM1446799 c.1696G>A p.A566T Substitution - Missense 7:101089008-101089008 + TCGA-C5-A1BL-01 COSM1547554 c.397G>T p.D133Y Substitution - Missense 7:101087709-101087709 + TCGA-AA-3510-01 COSM1446800 c.1696G>A p.A566T Substitution - Missense 7:101089008-101089008 + TCGA-FR-A3R1-01 COSM3631317 c.1654C>T p.P552S Substitution - Missense 7:101088966-101088966 + 2492723 COSM5721032 c.1548C>T p.F516F Substitution - coding silent 7:101088860-101088860 + TCGA-CG-5728-01 COSM3876612 c.1776C>T p.H592H Substitution - coding silent 7:101089088-101089088 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.521092 7q22.1 2416695|CGAP|BC048194|A/G|non-coding||3202|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.H200P c.599A>C 7 100731192 LUSC A C Missense p.S475R c.1423A>C 7 100732016 STAD A G Missense p.I745V c.2233A>G 7 100732826 LUSC A T Missense p.Q441L c.1322A>T 7 100731915 LUAD C A Missense p.P356H c.1067C>A 7 100731660 LUSC C A Synonymous p.A100A c.300C>A 7 100730893 STAD C G Missense p.R509G c.1525C>G 7 100732118 BRCA C T Missense p.A556V c.1667C>T 7 100732260 LGG C T Missense p.P356S c.1066C>T 7 100731659 GBM C T Missense p.P419L c.1256C>T 7 100731849 HNSC C T Missense p.P545S c.1633C>T 7 100732226 THCA C T Missense p.P552L c.1655C>T 7 100732248 HC C T Missense p.P681S c.2041C>T 7 100732634 CM C T Missense p.R89W c.265C>T 7 100730858 BLCA C T Missense p.S6F c.17C>T 7 100730610 CM C T Synonymous p.F648F c.1944C>T 7 100732537 CM C T Synonymous p.F78F c.234C>T 7 100730827 CM C T Synonymous p.H592H c.1776C>T 7 100732369 STAD C T Synonymous p.L570L c.1710C>T 7 100732303 BRCA C T Synonymous p.P67P c.201C>T 7 100730794 GBM C T Synonymous p.T729T c.2187C>T 7 100732780 HNSC C T Synonymous p.Y719Y c.2157C>T 7 100732750 CM G A Missense p.G357R c.1069G>A 7 100731662 CM G A Missense p.G413R c.1237G>A 7 100731830 ESCA G A Missense p.G512R c.1534G>A 7 100732127 BRCA G A Synonymous p.E371E c.1113G>A 7 100731706 CM G A Synonymous p.L14L c.42G>A 7 100730635 BLCA G A Synonymous p.R509R c.1527G>A 7 100732120 CM G C Missense p.E353Q c.1057G>C 7 100731650 BLCA G C Missense p.E520D c.1560G>C 7 100732153 ESCA G C Missense p.G503A c.1508G>C 7 100732101 HNSC G C Synonymous p.L478L c.1434G>C 7 100732027 LUAD G T Missense p.D17Y c.49G>T 7 100730642 BRCA G T Missense p.D50Y c.148G>T 7 100730741 CM G T Missense p.G383V c.1148G>T 7 100731741 NB G T Missense p.V146L c.436G>T 7 100731029 LUAD G T Missense p.V555L c.1663G>T 7 100732256 LUAD