Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 109544988 109544988 + Missense_Mutation SNP T T C TCGA-OR-A5JB-01A-11D-A29I-10 TCGA-OR-A5JB-10A-01D-A29L-10 g.chr1:109544988T>C c.1291A>G c.(1291-1293)Agg>Ggg p.R431G BLCA 1 109514174 109514174 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr1:109514174G>A c.2638C>T c.(2638-2640)Cct>Tct p.P880S BLCA 1 109517317 109517317 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr1:109517317C>T c.2458G>A c.(2458-2460)Gaa>Aaa p.E820K BLCA 1 109529176 109529176 + Missense_Mutation SNP C C A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 g.chr1:109529176C>A c.1894G>T c.(1894-1896)Gta>Tta p.V632L BLCA 1 109533888 109533888 + Silent SNP C C A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:109533888C>A c.1755G>T c.(1753-1755)tcG>tcT p.S585S BLCA 1 109538400 109538400 + Missense_Mutation SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:109538400G>A c.1493C>T c.(1492-1494)tCa>tTa p.S498L BLCA 1 109538452 109538452 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 g.chr1:109538452G>C c.1441C>G c.(1441-1443)Caa>Gaa p.Q481E BLCA 1 109553866 109553866 + Missense_Mutation SNP G G T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:109553866G>T c.802C>A c.(802-804)Cat>Aat p.H268N BLCA 1 109553931 109553931 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr1:109553931G>A c.737C>T c.(736-738)tCa>tTa p.S246L BLCA 1 109554150 109554150 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 g.chr1:109554150G>A c.518C>T c.(517-519)gCa>gTa p.A173V BLCA 1 109565995 109565995 + Missense_Mutation SNP T T C TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr1:109565995T>C c.140A>G c.(139-141)gAt>gGt p.D47G BLCA 1 109566102 109566102 + Missense_Mutation SNP C C A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 g.chr1:109566102C>A c.33G>T c.(31-33)gaG>gaT p.E11D BRCA 1 109514140 109514140 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:109514140A>C c.2672T>G c.(2671-2673)gTg>gGg p.V891G BRCA 1 109517230 109517230 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:109517230G>A c.2545C>T c.(2545-2547)Cga>Tga p.R849* BRCA 1 109525305 109525305 + Missense_Mutation SNP C C T TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 g.chr1:109525305C>T c.2192G>A c.(2191-2193)gGa>gAa p.G731E BRCA 1 109538271 109538271 + Missense_Mutation SNP C C T TCGA-A1-A0SN-01A-11D-A142-09 TCGA-A1-A0SN-10B-01D-A142-09 g.chr1:109538271C>T c.1622G>A c.(1621-1623)aGc>aAc p.S541N BRCA 1 109553707 109553707 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:109553707T>G c.961A>C c.(961-963)Acc>Ccc p.T321P BRCA 1 109553818 109553818 + Missense_Mutation SNP A A C TCGA-BH-A1FG-01A-11D-A13L-09 TCGA-BH-A1FG-11B-12D-A13O-09 g.chr1:109553818A>C c.850T>G c.(850-852)Ttg>Gtg p.L284V BRCA 1 109554133 109554133 + Missense_Mutation SNP C C A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 g.chr1:109554133C>A c.535G>T c.(535-537)Gat>Tat p.D179Y CESC 1 109514103 109514103 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 g.chr1:109514103G>A c.2709C>T c.(2707-2709)ttC>ttT p.F903F CESC 1 109517212 109517212 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr1:109517212G>A c.2563C>T c.(2563-2565)Cac>Tac p.H855Y CESC 1 109553686 109553686 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr1:109553686C>T c.982G>A c.(982-984)Gat>Aat p.D328N COAD 1 109514192 109514192 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:109514192C>T c.2620G>A c.(2620-2622)Gac>Aac p.D874N COAD 1 109517337 109517337 + Missense_Mutation SNP C C T TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr1:109517337C>T c.2438G>A c.(2437-2439)cGt>cAt p.R813H COAD 1 109524462 109524462 + Nonsense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr1:109524462C>T c.2291G>A c.(2290-2292)tGg>tAg p.W764* COAD 1 109525940 109525940 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:109525940C>T c.2059G>A c.(2059-2061)Gtg>Atg p.V687M COAD 1 109525946 109525946 + Missense_Mutation SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:109525946C>T c.2053G>A c.(2053-2055)Gtc>Atc p.V685I COAD 1 109529286 109529286 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:109529286T>G c.1784A>C c.(1783-1785)aAg>aCg p.K595T COAD 1 109538234 109538234 + Silent SNP A A G TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr1:109538234A>G c.1659T>C c.(1657-1659)ccT>ccC p.P553P COAD 1 109538234 109538234 + Silent SNP A A G TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr1:109538234A>G c.1659T>C c.(1657-1659)ccT>ccC p.P553P COAD 1 109538234 109538234 + Silent SNP A A T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr1:109538234A>T c.1659T>A c.(1657-1659)ccT>ccA p.P553P COAD 1 109538245 109538245 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:109538245T>G c.1648A>C c.(1648-1650)Aat>Cat p.N550H COAD 1 109553808 109553808 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:109553808A>C c.860T>G c.(859-861)cTt>cGt p.L287R COAD 1 109553927 109553927 + Nonsense_Mutation SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr1:109553927C>T c.741G>A c.(739-741)tgG>tgA p.W247* COADREAD 1 109514192 109514192 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:109514192C>T c.2620G>A c.(2620-2622)Gac>Aac p.D874N COADREAD 1 109517337 109517337 + Missense_Mutation SNP C C T TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr1:109517337C>T c.2438G>A c.(2437-2439)cGt>cAt p.R813H COADREAD 1 109524430 109524430 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:109524430C>A c.2323G>T c.(2323-2325)Gat>Tat p.D775Y COADREAD 1 109524462 109524462 + Nonsense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr1:109524462C>T c.2291G>A c.(2290-2292)tGg>tAg p.W764* COADREAD 1 109525940 109525940 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:109525940C>T c.2059G>A c.(2059-2061)Gtg>Atg p.V687M COADREAD 1 109525946 109525946 + Missense_Mutation SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:109525946C>T c.2053G>A c.(2053-2055)Gtc>Atc p.V685I COADREAD 1 109529286 109529286 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:109529286T>G c.1784A>C c.(1783-1785)aAg>aCg p.K595T COADREAD 1 109538234 109538234 + Silent SNP A A G TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr1:109538234A>G c.1659T>C c.(1657-1659)ccT>ccC p.P553P COADREAD 1 109538234 109538234 + Silent SNP A A G TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr1:109538234A>G c.1659T>C c.(1657-1659)ccT>ccC p.P553P COADREAD 1 109538234 109538234 + Silent SNP A A T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr1:109538234A>T c.1659T>A c.(1657-1659)ccT>ccA p.P553P COADREAD 1 109538245 109538245 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:109538245T>G c.1648A>C c.(1648-1650)Aat>Cat p.N550H COADREAD 1 109553808 109553808 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:109553808A>C c.860T>G c.(859-861)cTt>cGt p.L287R COADREAD 1 109553927 109553927 + Nonsense_Mutation SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr1:109553927C>T c.741G>A c.(739-741)tgG>tgA p.W247* ESCA 1 109517260 109517260 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr1:109517260G>C c.2515C>G c.(2515-2517)Cat>Gat p.H839D ESCA 1 109538263 109538263 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 g.chr1:109538263G>T c.1630C>A c.(1630-1632)Cgt>Agt p.R544S ESCA 1 109566072 109566072 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 g.chr1:109566072G>T c.63C>A c.(61-63)ttC>ttA p.F21L GBM 1 109553699 109553699 + Silent SNP T T A TCGA-27-2524-01A-01D-1494-08 TCGA-27-2524-10A-01D-1494-08 g.chr1:109553699T>A c.969A>T c.(967-969)ggA>ggT p.G323G GBMLGG 1 109538268 109538268 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:109538268G>T c.1625C>A c.(1624-1626)aCt>aAt p.T542N GBMLGG 1 109544855 109544855 + Missense_Mutation SNP A A G TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 g.chr1:109544855A>G c.1424T>C c.(1423-1425)tTc>tCc p.F475S GBMLGG 1 109553699 109553699 + Silent SNP T T A TCGA-27-2524-01A-01D-1494-08 TCGA-27-2524-10A-01D-1494-08 g.chr1:109553699T>A c.969A>T c.(967-969)ggA>ggT p.G323G GBMLGG 1 109554001 109554001 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:109554001T>A c.667A>T c.(667-669)Agc>Tgc p.S223C HNSC 1 109529169 109529169 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr1:109529169G>A c.1901C>T c.(1900-1902)gCc>gTc p.A634V HNSC 1 109538250 109538250 + Nonsense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr1:109538250G>C c.1643C>G c.(1642-1644)tCa>tGa p.S548* HNSC 1 109554140 109554140 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 g.chr1:109554140G>T c.528C>A c.(526-528)atC>atA p.I176I HNSC 1 109554265 109554265 + Missense_Mutation SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 g.chr1:109554265T>C c.403A>G c.(403-405)Agt>Ggt p.S135G KIPAN 1 109553950 109553950 + Missense_Mutation SNP A A T TCGA-B0-4849-01A-01D-1361-10 TCGA-B0-4849-11A-01D-1361-10 g.chr1:109553950A>T c.718T>A c.(718-720)Ttg>Atg p.L240M KIPAN 1 109554105 109554105 + Frame_Shift_Del DEL T T - TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr1:109554105delT c.563delA c.(562-564)aagfs p.K188fs KIPAN 1 109554274 109554274 + Missense_Mutation SNP C C G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 g.chr1:109554274C>G c.394G>C c.(394-396)Gat>Cat p.D132H KIRC 1 109553950 109553950 + Missense_Mutation SNP A A T TCGA-B0-4849-01A-01D-1361-10 TCGA-B0-4849-11A-01D-1361-10 g.chr1:109553950A>T c.718T>A c.(718-720)Ttg>Atg p.L240M KIRC 1 109554274 109554274 + Missense_Mutation SNP C C G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 g.chr1:109554274C>G c.394G>C c.(394-396)Gat>Cat p.D132H KIRP 1 109554105 109554105 + Frame_Shift_Del DEL T T - TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr1:109554105delT c.563delA c.(562-564)aagfs p.K188fs LGG 1 109538268 109538268 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:109538268G>T c.1625C>A c.(1624-1626)aCt>aAt p.T542N LGG 1 109544855 109544855 + Missense_Mutation SNP A A G TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 g.chr1:109544855A>G c.1424T>C c.(1423-1425)tTc>tCc p.F475S LGG 1 109554001 109554001 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:109554001T>A c.667A>T c.(667-669)Agc>Tgc p.S223C LIHC 1 109525342 109525342 + Missense_Mutation SNP C C T TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr1:109525342C>T c.2155G>A c.(2155-2157)Ggc>Agc p.G719S LIHC 1 109538417 109538417 + Silent SNP G G C TCGA-5C-AAPD-01A-21D-A38X-10 TCGA-5C-AAPD-10A-01D-A38X-10 g.chr1:109538417G>C c.1476C>G c.(1474-1476)ggC>ggG p.G492G LIHC 1 109553760 109553760 + Missense_Mutation SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr1:109553760T>C c.908A>G c.(907-909)cAa>cGa p.Q303R LUAD 1 109514125 109514125 + Missense_Mutation SNP C C A TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chr1:109514125C>A c.2687G>T c.(2686-2688)tGg>tTg p.W896L LUAD 1 109524373 109524373 + Missense_Mutation SNP T T A TCGA-62-A46P-01A-11D-A24D-08 TCGA-62-A46P-10A-01D-A24F-08 g.chr1:109524373T>A c.2380A>T c.(2380-2382)Aca>Tca p.T794S LUAD 1 109524457 109524457 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr1:109524457C>T c.2296G>A c.(2296-2298)Ggc>Agc p.G766S LUAD 1 109524461 109524461 + Missense_Mutation SNP C C A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr1:109524461C>A c.2292G>T c.(2290-2292)tgG>tgT p.W764C LUAD 1 109525251 109525251 + Missense_Mutation SNP T T C TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr1:109525251T>C c.2246A>G c.(2245-2247)cAt>cGt p.H749R LUAD 1 109525326 109525326 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr1:109525326C>G c.2171G>C c.(2170-2172)gGa>gCa p.G724A LUAD 1 109526005 109526005 + Missense_Mutation SNP T T G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr1:109526005T>G c.1994A>C c.(1993-1995)tAc>tCc p.Y665S LUAD 1 109538225 109538225 + Missense_Mutation SNP C C A TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr1:109538225C>A c.1668G>T c.(1666-1668)gaG>gaT p.E556D LUAD 1 109554145 109554145 + Missense_Mutation SNP A A C TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr1:109554145A>C c.523T>G c.(523-525)Ttc>Gtc p.F175V LUAD 1 109554149 109554149 + Silent SNP T T C TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:109554149T>C c.519A>G c.(517-519)gcA>gcG p.A173A LUSC 1 109524461 109524461 + Missense_Mutation SNP C C A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 g.chr1:109524461C>A c.2292G>T c.(2290-2292)tgG>tgT p.W764C LUSC 1 109538232 109538232 + Missense_Mutation SNP A A G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr1:109538232A>G c.1661T>C c.(1660-1662)tTt>tCt p.F554S OV 1 109525396 109525396 + Missense_Mutation SNP C C A TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 g.chr1:109525396C>A c.2101G>T c.(2101-2103)Gat>Tat p.D701Y OV 1 109538235 109538235 + Missense_Mutation SNP G G C TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 g.chr1:109538235G>C c.1658C>G c.(1657-1659)cCt>cGt p.P553R PAAD 1 109533934 109533934 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:109533934A>G c.1709T>C c.(1708-1710)gTc>gCc p.V570A PAAD 1 109547290 109547290 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:109547290C>T c.1178G>A c.(1177-1179)gGc>gAc p.G393D PAAD 1 109554167 109554167 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:109554167C>A c.501G>T c.(499-501)gaG>gaT p.E167D PRAD 1 109553736 109553736 + Missense_Mutation SNP C C T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 g.chr1:109553736C>T c.932G>A c.(931-933)cGc>cAc p.R311H READ 1 109524430 109524430 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:109524430C>A c.2323G>T c.(2323-2325)Gat>Tat p.D775Y SARC 1 109554234 109554234 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr1:109554234C>T c.434G>A c.(433-435)cGt>cAt p.R145H SARC 1 109560161 109560161 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr1:109560161A>G c.221T>C c.(220-222)aTg>aCg p.M74T SKCM 1 109524385 109524385 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr1:109524385G>A c.2368C>T c.(2368-2370)Cgt>Tgt p.R790C SKCM 1 109525357 109525357 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr1:109525357A>G c.2140T>C c.(2140-2142)Ttg>Ctg p.L714L SKCM 1 109529264 109529264 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:109529264G>A c.1806C>T c.(1804-1806)atC>atT p.I602I SKCM 1 109538218 109538218 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:109538218G>A c.1675C>T c.(1675-1677)Cct>Tct p.P559S SKCM 1 109544854 109544854 + Silent SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr1:109544854G>A c.1425C>T c.(1423-1425)ttC>ttT p.F475F SKCM 1 109553733 109553733 + Missense_Mutation SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr1:109553733G>A c.935C>T c.(934-936)tCt>tTt p.S312F SKCM 1 109554018 109554018 + Missense_Mutation SNP C C T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr1:109554018C>T c.650G>A c.(649-651)gGa>gAa p.G217E SKCM 1 109554153 109554153 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr1:109554153A>G c.515T>C c.(514-516)gTt>gCt p.V172A SKCM 1 109556543 109556543 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr1:109556543G>A c.247C>T c.(247-249)Cgt>Tgt p.R83C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 1 109554327 109554327 single base substitution A G downstream_gene_variant ALL-US 1 109554327 109554327 single base substitution A G missense_variant M114T 341T>C ALL-US 1 109554327 109554327 single base substitution A G missense_variant M121T 362T>C ALL-US 1 109554327 109554327 single base substitution A G missense_variant M14T 41T>C ALL-US 1 109554327 109554327 single base substitution A G missense_variant M41T 122T>C ALL-US 1 109554327 109554327 single base substitution A G missense_variant M86T 257T>C BLCA-US 1 109517317 109517317 single base substitution C T missense_variant E792K 2374G>A BLCA-US 1 109517317 109517317 single base substitution C T missense_variant E820K 2458G>A BLCA-US 1 109517317 109517317 single base substitution C T missense_variant E821K 2461G>A BLCA-US 1 109517317 109517317 single base substitution C T missense_variant E828K 2482G>A BLCA-US 1 109538452 109538452 single base substitution G C missense_variant Q453E 1357C>G BLCA-US 1 109538452 109538452 single base substitution G C missense_variant Q481E 1441C>G BLCA-US 1 109538452 109538452 single base substitution G C missense_variant Q482E 1444C>G BLCA-US 1 109538452 109538452 single base substitution G C missense_variant Q489E 1465C>G BRCA-EU 1 109509211 109509211 single base substitution T C downstream_gene_variant BRCA-EU 1 109511681 109511681 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 109512076 109512076 single base substitution G C downstream_gene_variant BRCA-EU 1 109512165 109512165 single base substitution C G downstream_gene_variant BRCA-EU 1 109512342 109512342 single base substitution G C downstream_gene_variant BRCA-EU 1 109513067 109513067 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 109513350 109513350 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 109514095 109514095 single base substitution G A missense_variant S878F 2633C>T BRCA-EU 1 109514095 109514095 single base substitution G A missense_variant S906F 2717C>T BRCA-EU 1 109514095 109514095 single base substitution G A missense_variant S907F 2720C>T BRCA-EU 1 109514095 109514095 single base substitution G A missense_variant S914F 2741C>T BRCA-EU 1 109514499 109514499 single base substitution G T intron_variant BRCA-EU 1 109514992 109514992 single base substitution T C intron_variant BRCA-EU 1 109517192 109517192 single base substitution A G synonymous_variant S833S 2499T>C BRCA-EU 1 109517192 109517192 single base substitution A G synonymous_variant S861S 2583T>C BRCA-EU 1 109517192 109517192 single base substitution A G synonymous_variant S862S 2586T>C BRCA-EU 1 109517192 109517192 single base substitution A G synonymous_variant S869S 2607T>C BRCA-EU 1 109517485 109517485 single base substitution C G intron_variant BRCA-EU 1 109518697 109518697 single base substitution G C intron_variant BRCA-EU 1 109518955 109518955 single base substitution G A intron_variant BRCA-EU 1 109519981 109519981 single base substitution G A intron_variant BRCA-EU 1 109520477 109520477 single base substitution G A intron_variant BRCA-EU 1 109523149 109523149 single base substitution G C intron_variant BRCA-EU 1 109523677 109523677 single base substitution G A intron_variant BRCA-EU 1 109524172 109524172 single base substitution G A intron_variant BRCA-EU 1 109524770 109524770 single base substitution C G intron_variant BRCA-EU 1 109526258 109526258 single base substitution T C intron_variant BRCA-EU 1 109527088 109527088 single base substitution G T intron_variant BRCA-EU 1 109527510 109527510 deletion of <=200bp A - intron_variant BRCA-EU 1 109527768 109527768 single base substitution G C intron_variant BRCA-EU 1 109528337 109528337 single base substitution G A intron_variant BRCA-EU 1 109530850 109530850 deletion of <=200bp G - intron_variant BRCA-EU 1 109531758 109531758 single base substitution G C intron_variant BRCA-EU 1 109532987 109532987 single base substitution T A intron_variant BRCA-EU 1 109533778 109533778 single base substitution C A intron_variant BRCA-EU 1 109533809 109533809 single base substitution G A intron_variant BRCA-EU 1 109536319 109536319 single base substitution C T intron_variant BRCA-EU 1 109541031 109541031 single base substitution G A intron_variant BRCA-EU 1 109541851 109541851 single base substitution A C intron_variant BRCA-EU 1 109542032 109542032 single base substitution A T intron_variant BRCA-EU 1 109542186 109542186 single base substitution T A intron_variant BRCA-EU 1 109545447 109545447 deletion of <=200bp A - intron_variant BRCA-EU 1 109546154 109546154 single base substitution C T intron_variant BRCA-EU 1 109547499 109547499 single base substitution A G intron_variant BRCA-EU 1 109548916 109548916 single base substitution G T intron_variant BRCA-EU 1 109550151 109550151 single base substitution T A downstream_gene_variant BRCA-EU 1 109550151 109550151 single base substitution T A intron_variant BRCA-EU 1 109551174 109551174 single base substitution C T downstream_gene_variant BRCA-EU 1 109551174 109551174 single base substitution C T intron_variant BRCA-EU 1 109552440 109552440 single base substitution T C downstream_gene_variant BRCA-EU 1 109552440 109552440 single base substitution T C intron_variant BRCA-EU 1 109552982 109552982 single base substitution G T downstream_gene_variant BRCA-EU 1 109552982 109552982 single base substitution G T intron_variant BRCA-EU 1 109554596 109554596 single base substitution C T downstream_gene_variant BRCA-EU 1 109554596 109554596 single base substitution C T intron_variant BRCA-EU 1 109554633 109554633 single base substitution T C downstream_gene_variant BRCA-EU 1 109554633 109554633 single base substitution T C intron_variant BRCA-EU 1 109554788 109554788 single base substitution G T downstream_gene_variant BRCA-EU 1 109554788 109554788 single base substitution G T intron_variant BRCA-EU 1 109556158 109556158 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 109556158 109556158 insertion of <=200bp - A intron_variant BRCA-EU 1 109558538 109558538 single base substitution G A intron_variant BRCA-EU 1 109560855 109560855 single base substitution G A intron_variant BRCA-EU 1 109561992 109561992 single base substitution G A intron_variant BRCA-EU 1 109562864 109562864 single base substitution T G intron_variant BRCA-EU 1 109562885 109562885 single base substitution G A intron_variant BRCA-EU 1 109563070 109563070 single base substitution G T intron_variant BRCA-EU 1 109563207 109563207 single base substitution A G intron_variant BRCA-EU 1 109564883 109564883 deletion of <=200bp A - intron_variant BRCA-EU 1 109565091 109565091 single base substitution T A intron_variant BRCA-EU 1 109565203 109565203 insertion of <=200bp - T intron_variant BRCA-EU 1 109565881 109565881 single base substitution G A intron_variant BRCA-EU 1 109566022 109566022 single base substitution C A intron_variant BRCA-EU 1 109566022 109566022 single base substitution C A missense_variant S38I 113G>T BRCA-EU 1 109566911 109566911 insertion of <=200bp - A intron_variant BRCA-EU 1 109567529 109567529 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 109567529 109567529 single base substitution G A intron_variant BRCA-EU 1 109568072 109568073 deletion of <=200bp AG - intron_variant BRCA-EU 1 109568800 109568800 single base substitution C G intron_variant BRCA-EU 1 109569189 109569189 deletion of <=200bp A - intron_variant BRCA-EU 1 109571271 109571271 single base substitution C T intron_variant BRCA-EU 1 109572219 109572219 single base substitution G A intron_variant BRCA-EU 1 109573868 109573868 single base substitution C T intron_variant BRCA-EU 1 109575156 109575156 single base substitution C G intron_variant BRCA-EU 1 109575444 109575444 single base substitution G A intron_variant BRCA-EU 1 109575748 109575748 single base substitution T C intron_variant BRCA-EU 1 109575940 109575940 single base substitution A C intron_variant BRCA-EU 1 109577511 109577511 single base substitution G A intron_variant BRCA-EU 1 109577769 109577769 single base substitution G A intron_variant BRCA-EU 1 109579035 109579035 single base substitution A C intron_variant BRCA-EU 1 109579487 109579487 single base substitution A G intron_variant BRCA-EU 1 109579746 109579746 single base substitution G A intron_variant BRCA-EU 1 109579825 109579825 single base substitution C T intron_variant BRCA-EU 1 109580211 109580211 single base substitution T A intron_variant BRCA-EU 1 109580825 109580825 single base substitution T A intron_variant BRCA-EU 1 109581071 109581071 single base substitution C T intron_variant BRCA-EU 1 109581120 109581120 single base substitution G A intron_variant BRCA-EU 1 109582099 109582099 single base substitution C G intron_variant BRCA-EU 1 109583747 109583747 deletion of <=200bp C - intron_variant BRCA-EU 1 109584370 109584370 single base substitution C A intron_variant BRCA-EU 1 109584370 109584370 single base substitution C A upstream_gene_variant BRCA-EU 1 109584837 109584837 single base substitution C G 5_prime_UTR_variant BRCA-EU 1 109584837 109584837 single base substitution C G upstream_gene_variant BRCA-EU 1 109585560 109585560 single base substitution G A upstream_gene_variant BRCA-EU 1 109586784 109586784 single base substitution G C upstream_gene_variant BRCA-EU 1 109586862 109586862 single base substitution C T upstream_gene_variant BRCA-EU 1 109586904 109586904 single base substitution C A upstream_gene_variant BRCA-EU 1 109589501 109589501 single base substitution C T upstream_gene_variant BRCA-EU 1 109589789 109589826 deletion of <=200bp AATGTGTGAAATCATCACCATGATGTTGTGTGGCAACA - upstream_gene_variant BRCA-FR 1 109513350 109513350 single base substitution G C 3_prime_UTR_variant BRCA-FR 1 109523149 109523149 single base substitution G C intron_variant BRCA-FR 1 109524172 109524172 single base substitution G A intron_variant BRCA-FR 1 109525220 109525220 single base substitution A T intron_variant BRCA-FR 1 109538821 109538821 single base substitution T C intron_variant BRCA-FR 1 109567529 109567529 single base substitution G A 5_prime_UTR_variant BRCA-FR 1 109567529 109567529 single base substitution G A intron_variant BRCA-FR 1 109571348 109571348 single base substitution C T intron_variant BRCA-FR 1 109574583 109574583 single base substitution G A intron_variant BRCA-UK 1 109525010 109525010 single base substitution C T intron_variant BRCA-UK 1 109541372 109541372 single base substitution C G intron_variant BRCA-UK 1 109565881 109565881 single base substitution G A intron_variant BRCA-UK 1 109580825 109580825 single base substitution T A intron_variant BRCA-US 1 109514140 109514140 single base substitution A C missense_variant V863G 2588T>G BRCA-US 1 109514140 109514140 single base substitution A C missense_variant V891G 2672T>G BRCA-US 1 109514140 109514140 single base substitution A C missense_variant V892G 2675T>G BRCA-US 1 109514140 109514140 single base substitution A C missense_variant V899G 2696T>G BRCA-US 1 109517230 109517230 single base substitution G A stop_gained R821* 2461C>T BRCA-US 1 109517230 109517230 single base substitution G A stop_gained R849* 2545C>T BRCA-US 1 109517230 109517230 single base substitution G A stop_gained R850* 2548C>T BRCA-US 1 109517230 109517230 single base substitution G A stop_gained R857* 2569C>T BRCA-US 1 109525305 109525305 single base substitution C T missense_variant G703E 2108G>A BRCA-US 1 109525305 109525305 single base substitution C T missense_variant G731E 2192G>A BRCA-US 1 109525305 109525305 single base substitution C T missense_variant G732E 2195G>A BRCA-US 1 109525305 109525305 single base substitution C T missense_variant G739E 2216G>A BRCA-US 1 109538271 109538271 single base substitution C T missense_variant S513N 1538G>A BRCA-US 1 109538271 109538271 single base substitution C T missense_variant S541N 1622G>A BRCA-US 1 109538271 109538271 single base substitution C T missense_variant S542N 1625G>A BRCA-US 1 109538271 109538271 single base substitution C T missense_variant S549N 1646G>A BRCA-US 1 109553707 109553707 single base substitution T G downstream_gene_variant BRCA-US 1 109553707 109553707 single base substitution T G missense_variant T293P 877A>C BRCA-US 1 109553707 109553707 single base substitution T G missense_variant T321P 961A>C BRCA-US 1 109553707 109553707 single base substitution T G missense_variant T328P 982A>C BRCA-US 1 109553818 109553818 single base substitution A C downstream_gene_variant BRCA-US 1 109553818 109553818 single base substitution A C missense_variant L256V 766T>G BRCA-US 1 109553818 109553818 single base substitution A C missense_variant L284V 850T>G BRCA-US 1 109553818 109553818 single base substitution A C missense_variant L291V 871T>G BRCA-US 1 109554133 109554133 single base substitution C A downstream_gene_variant BRCA-US 1 109554133 109554133 single base substitution C A missense_variant D151Y 451G>T BRCA-US 1 109554133 109554133 single base substitution C A missense_variant D179Y 535G>T BRCA-US 1 109554133 109554133 single base substitution C A missense_variant D186Y 556G>T BTCA-JP 1 109514119 109514119 single base substitution G A missense_variant T870I 2609C>T BTCA-JP 1 109514119 109514119 single base substitution G A missense_variant T898I 2693C>T BTCA-JP 1 109514119 109514119 single base substitution G A missense_variant T899I 2696C>T BTCA-JP 1 109514119 109514119 single base substitution G A missense_variant T906I 2717C>T BTCA-JP 1 109553527 109553527 single base substitution C G downstream_gene_variant BTCA-JP 1 109553527 109553527 single base substitution C G intron_variant BTCA-JP 1 109560159 109560159 single base substitution C A intron_variant BTCA-JP 1 109560159 109560159 single base substitution C A stop_gained E2* 4G>T BTCA-JP 1 109560159 109560159 single base substitution C A stop_gained E75* 223G>T CESC-US 1 109514103 109514103 single base substitution G A synonymous_variant F875F 2625C>T CESC-US 1 109514103 109514103 single base substitution G A synonymous_variant F903F 2709C>T CESC-US 1 109514103 109514103 single base substitution G A synonymous_variant F904F 2712C>T CESC-US 1 109514103 109514103 single base substitution G A synonymous_variant F911F 2733C>T CESC-US 1 109517212 109517212 single base substitution G A missense_variant H827Y 2479C>T CESC-US 1 109517212 109517212 single base substitution G A missense_variant H855Y 2563C>T CESC-US 1 109517212 109517212 single base substitution G A missense_variant H856Y 2566C>T CESC-US 1 109517212 109517212 single base substitution G A missense_variant H863Y 2587C>T CESC-US 1 109553686 109553686 single base substitution C T downstream_gene_variant CESC-US 1 109553686 109553686 single base substitution C T missense_variant D300N 898G>A CESC-US 1 109553686 109553686 single base substitution C T missense_variant D328N 982G>A CESC-US 1 109553686 109553686 single base substitution C T missense_variant D335N 1003G>A CLLE-ES 1 109510478 109510478 single base substitution A G downstream_gene_variant CLLE-ES 1 109516424 109516424 single base substitution G A intron_variant CLLE-ES 1 109527276 109527276 single base substitution C T intron_variant CLLE-ES 1 109556392 109556392 single base substitution G A downstream_gene_variant CLLE-ES 1 109556392 109556392 single base substitution G A intron_variant CLLE-ES 1 109567234 109567234 single base substitution G A intron_variant CLLE-ES 1 109583946 109583946 single base substitution C T intron_variant COAD-US 1 109514192 109514192 single base substitution C T missense_variant D846N 2536G>A COAD-US 1 109514192 109514192 single base substitution C T missense_variant D874N 2620G>A COAD-US 1 109514192 109514192 single base substitution C T missense_variant D875N 2623G>A COAD-US 1 109514192 109514192 single base substitution C T missense_variant D882N 2644G>A COAD-US 1 109517337 109517337 single base substitution C T missense_variant R785H 2354G>A COAD-US 1 109517337 109517337 single base substitution C T missense_variant R813H 2438G>A COAD-US 1 109517337 109517337 single base substitution C T missense_variant R814H 2441G>A COAD-US 1 109517337 109517337 single base substitution C T missense_variant R821H 2462G>A COAD-US 1 109525946 109525946 single base substitution C T missense_variant V657I 1969G>A COAD-US 1 109525946 109525946 single base substitution C T missense_variant V685I 2053G>A COAD-US 1 109525946 109525946 single base substitution C T missense_variant V686I 2056G>A COAD-US 1 109525946 109525946 single base substitution C T missense_variant V693I 2077G>A COAD-US 1 109538245 109538245 single base substitution T G missense_variant N522H 1564A>C COAD-US 1 109538245 109538245 single base substitution T G missense_variant N550H 1648A>C COAD-US 1 109538245 109538245 single base substitution T G missense_variant N551H 1651A>C COAD-US 1 109538245 109538245 single base substitution T G missense_variant N558H 1672A>C COAD-US 1 109544891 109544893 deletion of <=200bp TCC - disruptive_inframe_deletion ED434D COAD-US 1 109544891 109544893 deletion of <=200bp TCC - disruptive_inframe_deletion ED462D COAD-US 1 109544891 109544893 deletion of <=200bp TCC - disruptive_inframe_deletion ED463D COAD-US 1 109544891 109544893 deletion of <=200bp TCC - disruptive_inframe_deletion ED470D COAD-US 1 109553808 109553808 single base substitution A C downstream_gene_variant COAD-US 1 109553808 109553808 single base substitution A C missense_variant L259R 776T>G COAD-US 1 109553808 109553808 single base substitution A C missense_variant L287R 860T>G COAD-US 1 109553808 109553808 single base substitution A C missense_variant L294R 881T>G COCA-CN 1 109517322 109517322 single base substitution C T missense_variant G790D 2369G>A COCA-CN 1 109517322 109517322 single base substitution C T missense_variant G818D 2453G>A COCA-CN 1 109517322 109517322 single base substitution C T missense_variant G819D 2456G>A COCA-CN 1 109517322 109517322 single base substitution C T missense_variant G826D 2477G>A COCA-CN 1 109525297 109525297 single base substitution C T missense_variant D706N 2116G>A COCA-CN 1 109525297 109525297 single base substitution C T missense_variant D734N 2200G>A COCA-CN 1 109525297 109525297 single base substitution C T missense_variant D735N 2203G>A COCA-CN 1 109525297 109525297 single base substitution C T missense_variant D742N 2224G>A COCA-CN 1 109527336 109527336 single base substitution C T intron_variant COCA-CN 1 109544912 109544912 single base substitution T C missense_variant E428G 1283A>G COCA-CN 1 109544912 109544912 single base substitution T C missense_variant E456G 1367A>G COCA-CN 1 109544912 109544912 single base substitution T C missense_variant E457G 1370A>G COCA-CN 1 109544912 109544912 single base substitution T C missense_variant E464G 1391A>G COCA-CN 1 109553882 109553882 single base substitution C A downstream_gene_variant COCA-CN 1 109553882 109553882 single base substitution C A missense_variant Q234H 702G>T COCA-CN 1 109553882 109553882 single base substitution C A missense_variant Q262H 786G>T COCA-CN 1 109553882 109553882 single base substitution C A missense_variant Q269H 807G>T COCA-CN 1 109553960 109553960 single base substitution A G downstream_gene_variant COCA-CN 1 109553960 109553960 single base substitution A G synonymous_variant G208G 624T>C COCA-CN 1 109553960 109553960 single base substitution A G synonymous_variant G236G 708T>C COCA-CN 1 109553960 109553960 single base substitution A G synonymous_variant G243G 729T>C COCA-CN 1 109556436 109556436 single base substitution G A downstream_gene_variant COCA-CN 1 109556436 109556436 single base substitution G A intron_variant COCA-CN 1 109556436 109556436 single base substitution G A splice_region_variant EOPC-DE 1 109522419 109522419 single base substitution C T intron_variant EOPC-DE 1 109522673 109522673 single base substitution C T intron_variant EOPC-DE 1 109559829 109559829 single base substitution A C intron_variant EOPC-DE 1 109583541 109583541 single base substitution C G intron_variant ESAD-UK 1 109510793 109510793 single base substitution G T downstream_gene_variant ESAD-UK 1 109513236 109513236 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 1 109513454 109513454 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 109515706 109515706 single base substitution A G intron_variant ESAD-UK 1 109516497 109516497 single base substitution C G intron_variant ESAD-UK 1 109518361 109518361 deletion of <=200bp A - intron_variant ESAD-UK 1 109520927 109520927 single base substitution C A intron_variant ESAD-UK 1 109523728 109523728 single base substitution C T intron_variant ESAD-UK 1 109524826 109524826 single base substitution A T intron_variant ESAD-UK 1 109524827 109524827 single base substitution A T intron_variant ESAD-UK 1 109527951 109527951 single base substitution C T intron_variant ESAD-UK 1 109530811 109530811 single base substitution G A intron_variant ESAD-UK 1 109531797 109531797 single base substitution G A intron_variant ESAD-UK 1 109534535 109534535 single base substitution T G intron_variant ESAD-UK 1 109536090 109536090 deletion of <=200bp A - intron_variant ESAD-UK 1 109538112 109538112 single base substitution T G intron_variant ESAD-UK 1 109541928 109541928 single base substitution C T intron_variant ESAD-UK 1 109543341 109543341 single base substitution C A intron_variant ESAD-UK 1 109552386 109552386 single base substitution G A downstream_gene_variant ESAD-UK 1 109552386 109552386 single base substitution G A intron_variant ESAD-UK 1 109552793 109552793 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 109552793 109552793 insertion of <=200bp - T intron_variant ESAD-UK 1 109552848 109552848 single base substitution C T downstream_gene_variant ESAD-UK 1 109552848 109552848 single base substitution C T intron_variant ESAD-UK 1 109553554 109553554 single base substitution C T downstream_gene_variant ESAD-UK 1 109553554 109553554 single base substitution C T missense_variant E344K 1030G>A ESAD-UK 1 109553554 109553554 single base substitution C T missense_variant E372K 1114G>A ESAD-UK 1 109553554 109553554 single base substitution C T missense_variant E379K 1135G>A ESAD-UK 1 109554465 109554465 single base substitution C T downstream_gene_variant ESAD-UK 1 109554465 109554465 single base substitution C T intron_variant ESAD-UK 1 109557674 109557674 single base substitution A C intron_variant ESAD-UK 1 109557917 109557917 deletion of <=200bp A - intron_variant ESAD-UK 1 109558072 109558072 single base substitution A C intron_variant ESAD-UK 1 109558121 109558121 single base substitution T C intron_variant ESAD-UK 1 109559860 109559860 deletion of <=200bp A - intron_variant ESAD-UK 1 109560141 109560141 deletion of <=200bp T - frameshift_variant R8 ESAD-UK 1 109560141 109560141 deletion of <=200bp T - frameshift_variant R81 ESAD-UK 1 109560141 109560141 deletion of <=200bp T - intron_variant ESAD-UK 1 109560149 109560149 single base substitution T C intron_variant ESAD-UK 1 109560149 109560149 single base substitution T C missense_variant D5G 14A>G ESAD-UK 1 109560149 109560149 single base substitution T C missense_variant D78G 233A>G ESAD-UK 1 109561423 109561423 single base substitution G A intron_variant ESAD-UK 1 109567860 109567860 single base substitution G A intron_variant ESAD-UK 1 109572113 109572113 single base substitution C A intron_variant ESAD-UK 1 109576696 109576696 single base substitution A G intron_variant ESAD-UK 1 109584281 109584281 single base substitution G A intron_variant ESAD-UK 1 109584281 109584281 single base substitution G A upstream_gene_variant ESAD-UK 1 109585656 109585656 single base substitution G T upstream_gene_variant GBM-US 1 109553699 109553699 single base substitution T A downstream_gene_variant GBM-US 1 109553699 109553699 single base substitution T A synonymous_variant G295G 885A>T GBM-US 1 109553699 109553699 single base substitution T A synonymous_variant G323G 969A>T GBM-US 1 109553699 109553699 single base substitution T A synonymous_variant G330G 990A>T KIRC-US 1 109553950 109553950 single base substitution A T downstream_gene_variant KIRC-US 1 109553950 109553950 single base substitution A T missense_variant L212M 634T>A KIRC-US 1 109553950 109553950 single base substitution A T missense_variant L240M 718T>A KIRC-US 1 109553950 109553950 single base substitution A T missense_variant L247M 739T>A KIRP-US 1 109554105 109554105 deletion of <=200bp T - downstream_gene_variant KIRP-US 1 109554105 109554105 deletion of <=200bp T - frameshift_variant K160 KIRP-US 1 109554105 109554105 deletion of <=200bp T - frameshift_variant K188 KIRP-US 1 109554105 109554105 deletion of <=200bp T - frameshift_variant K195 LAML-KR 1 109579722 109579722 single base substitution C T intron_variant LAML-KR 1 109582680 109582680 single base substitution G A intron_variant LAML-KR 1 109589180 109589180 single base substitution A T upstream_gene_variant LICA-CN 1 109517335 109517335 single base substitution G C missense_variant L786V 2356C>G LICA-CN 1 109517335 109517335 single base substitution G C missense_variant L814V 2440C>G LICA-CN 1 109517335 109517335 single base substitution G C missense_variant L815V 2443C>G LICA-CN 1 109517335 109517335 single base substitution G C missense_variant L822V 2464C>G LICA-CN 1 109529179 109529179 single base substitution T A stop_gained R603* 1807A>T LICA-CN 1 109529179 109529179 single base substitution T A stop_gained R631* 1891A>T LICA-CN 1 109529179 109529179 single base substitution T A stop_gained R632* 1894A>T LICA-CN 1 109529179 109529179 single base substitution T A stop_gained R639* 1915A>T LICA-FR 1 109534905 109534905 single base substitution T C intron_variant LICA-FR 1 109538373 109538373 single base substitution C A missense_variant S479I 1436G>T LICA-FR 1 109538373 109538373 single base substitution C A missense_variant S507I 1520G>T LICA-FR 1 109538373 109538373 single base substitution C A missense_variant S508I 1523G>T LICA-FR 1 109538373 109538373 single base substitution C A missense_variant S515I 1544G>T LICA-FR 1 109545021 109545021 single base substitution G A stop_gained R392* 1174C>T LICA-FR 1 109545021 109545021 single base substitution G A stop_gained R420* 1258C>T LICA-FR 1 109545021 109545021 single base substitution G A stop_gained R421* 1261C>T LICA-FR 1 109545021 109545021 single base substitution G A stop_gained R428* 1282C>T LICA-FR 1 109549053 109549053 single base substitution T C intron_variant LICA-FR 1 109555195 109555195 insertion of <=200bp - AAAA downstream_gene_variant LICA-FR 1 109555195 109555195 insertion of <=200bp - AAAA intron_variant LICA-FR 1 109558337 109558337 single base substitution C T intron_variant LICA-FR 1 109558605 109558606 deletion of <=200bp AA - intron_variant LICA-FR 1 109561877 109561877 single base substitution T A intron_variant LICA-FR 1 109562879 109562879 single base substitution G A intron_variant LICA-FR 1 109566050 109566050 single base substitution T C intron_variant LICA-FR 1 109566050 109566050 single base substitution T C missense_variant I29V 85A>G LICA-FR 1 109568970 109568970 deletion of <=200bp C - intron_variant LICA-FR 1 109570579 109570579 single base substitution C A intron_variant LIHC-US 1 109525342 109525342 single base substitution C T missense_variant G691S 2071G>A LIHC-US 1 109525342 109525342 single base substitution C T missense_variant G719S 2155G>A LIHC-US 1 109525342 109525342 single base substitution C T missense_variant G720S 2158G>A LIHC-US 1 109525342 109525342 single base substitution C T missense_variant G727S 2179G>A LIHC-US 1 109553760 109553760 single base substitution T C downstream_gene_variant LIHC-US 1 109553760 109553760 single base substitution T C missense_variant Q275R 824A>G LIHC-US 1 109553760 109553760 single base substitution T C missense_variant Q303R 908A>G LIHC-US 1 109553760 109553760 single base substitution T C missense_variant Q310R 929A>G LIHC-US 1 109553939 109553939 single base substitution A G downstream_gene_variant LIHC-US 1 109553939 109553939 single base substitution A G synonymous_variant S215S 645T>C LIHC-US 1 109553939 109553939 single base substitution A G synonymous_variant S243S 729T>C LIHC-US 1 109553939 109553939 single base substitution A G synonymous_variant S250S 750T>C LINC-JP 1 109514244 109514244 single base substitution T C intron_variant LINC-JP 1 109528802 109528802 single base substitution G C intron_variant LINC-JP 1 109553602 109553602 single base substitution G T downstream_gene_variant LINC-JP 1 109553602 109553602 single base substitution G T missense_variant L328I 982C>A LINC-JP 1 109553602 109553602 single base substitution G T missense_variant L356I 1066C>A LINC-JP 1 109553602 109553602 single base substitution G T missense_variant L363I 1087C>A LINC-JP 1 109560177 109560177 single base substitution G A 5_prime_UTR_variant LINC-JP 1 109560177 109560177 single base substitution G A intron_variant LINC-JP 1 109560177 109560177 single base substitution G A stop_gained Q69* 205C>T LINC-JP 1 109560387 109560387 single base substitution G A intron_variant LINC-JP 1 109567196 109567196 single base substitution G A intron_variant LINC-JP 1 109588599 109588599 single base substitution C G upstream_gene_variant LIRI-JP 1 109510694 109510694 single base substitution C T downstream_gene_variant LIRI-JP 1 109512796 109512796 single base substitution A T downstream_gene_variant LIRI-JP 1 109513346 109513346 single base substitution T A 3_prime_UTR_variant LIRI-JP 1 109514534 109514534 single base substitution C A intron_variant LIRI-JP 1 109514801 109514801 single base substitution T G intron_variant LIRI-JP 1 109514824 109514824 single base substitution T C intron_variant LIRI-JP 1 109515324 109515324 single base substitution G A intron_variant LIRI-JP 1 109516110 109516110 single base substitution G C intron_variant LIRI-JP 1 109516370 109516370 single base substitution G A intron_variant LIRI-JP 1 109516756 109516756 single base substitution A G intron_variant LIRI-JP 1 109517762 109517765 deletion of <=200bp AACA - intron_variant LIRI-JP 1 109521102 109521102 single base substitution T A intron_variant LIRI-JP 1 109521825 109521825 single base substitution A G intron_variant LIRI-JP 1 109522053 109522053 single base substitution C T intron_variant LIRI-JP 1 109528653 109528653 single base substitution T C intron_variant LIRI-JP 1 109529883 109529883 single base substitution T C intron_variant LIRI-JP 1 109530319 109530319 single base substitution A G intron_variant LIRI-JP 1 109530902 109530902 single base substitution A C intron_variant LIRI-JP 1 109534177 109534177 single base substitution C G intron_variant LIRI-JP 1 109536340 109536340 single base substitution G T intron_variant LIRI-JP 1 109537018 109537018 single base substitution T A intron_variant LIRI-JP 1 109537808 109537808 single base substitution T G intron_variant LIRI-JP 1 109541881 109541881 single base substitution G A intron_variant LIRI-JP 1 109542659 109542659 single base substitution A C intron_variant LIRI-JP 1 109543651 109543651 single base substitution T C intron_variant LIRI-JP 1 109545610 109545610 single base substitution C A intron_variant LIRI-JP 1 109546742 109546742 single base substitution C A intron_variant LIRI-JP 1 109547701 109547701 single base substitution A G intron_variant LIRI-JP 1 109552023 109552023 single base substitution T G downstream_gene_variant LIRI-JP 1 109552023 109552023 single base substitution T G intron_variant LIRI-JP 1 109557213 109557213 single base substitution C T intron_variant LIRI-JP 1 109560343 109560343 single base substitution T C intron_variant LIRI-JP 1 109561498 109561498 single base substitution C A intron_variant LIRI-JP 1 109561499 109561499 single base substitution C A intron_variant LIRI-JP 1 109561730 109561730 single base substitution G A intron_variant LIRI-JP 1 109562703 109562703 single base substitution T C intron_variant LIRI-JP 1 109564169 109564169 single base substitution C T intron_variant LIRI-JP 1 109568486 109568486 single base substitution A G intron_variant LIRI-JP 1 109571222 109571222 single base substitution T C intron_variant LIRI-JP 1 109575692 109575692 single base substitution T C intron_variant LIRI-JP 1 109576652 109576652 single base substitution A T intron_variant LIRI-JP 1 109578939 109578939 single base substitution T C intron_variant LIRI-JP 1 109579254 109579254 single base substitution C T intron_variant LIRI-JP 1 109581584 109581584 single base substitution G A intron_variant LIRI-JP 1 109581643 109581643 single base substitution G T intron_variant LIRI-JP 1 109581870 109581870 deletion of <=200bp T - intron_variant LIRI-JP 1 109583439 109583439 single base substitution T C intron_variant LUSC-KR 1 109519523 109519523 single base substitution C T intron_variant LUSC-KR 1 109523127 109523127 single base substitution G C intron_variant LUSC-KR 1 109525259 109525259 single base substitution C G missense_variant Q718H 2154G>C LUSC-KR 1 109525259 109525259 single base substitution C G missense_variant Q746H 2238G>C LUSC-KR 1 109525259 109525259 single base substitution C G missense_variant Q747H 2241G>C LUSC-KR 1 109525259 109525259 single base substitution C G missense_variant Q754H 2262G>C LUSC-KR 1 109552355 109552355 single base substitution C A downstream_gene_variant LUSC-KR 1 109552355 109552355 single base substitution C A intron_variant LUSC-KR 1 109560739 109560739 single base substitution C A intron_variant LUSC-KR 1 109561156 109561156 single base substitution G C intron_variant LUSC-KR 1 109562024 109562024 single base substitution G A intron_variant LUSC-KR 1 109580829 109580829 single base substitution A G intron_variant LUSC-KR 1 109580928 109580928 single base substitution C T intron_variant LUSC-KR 1 109582907 109582907 single base substitution T A intron_variant LUSC-KR 1 109586500 109586500 single base substitution C A upstream_gene_variant LUSC-KR 1 109589776 109589776 single base substitution G C upstream_gene_variant LUSC-US 1 109524461 109524461 single base substitution C A missense_variant W736C 2208G>T LUSC-US 1 109524461 109524461 single base substitution C A missense_variant W764C 2292G>T LUSC-US 1 109524461 109524461 single base substitution C A missense_variant W765C 2295G>T LUSC-US 1 109524461 109524461 single base substitution C A missense_variant W772C 2316G>T LUSC-US 1 109538232 109538232 single base substitution A G missense_variant F526S 1577T>C LUSC-US 1 109538232 109538232 single base substitution A G missense_variant F554S 1661T>C LUSC-US 1 109538232 109538232 single base substitution A G missense_variant F555S 1664T>C LUSC-US 1 109538232 109538232 single base substitution A G missense_variant F562S 1685T>C MALY-DE 1 109521747 109521747 single base substitution G A intron_variant MALY-DE 1 109526048 109526048 single base substitution C A missense_variant V623L 1867G>T MALY-DE 1 109526048 109526048 single base substitution C A missense_variant V651L 1951G>T MALY-DE 1 109526048 109526048 single base substitution C A missense_variant V652L 1954G>T MALY-DE 1 109526048 109526048 single base substitution C A missense_variant V659L 1975G>T MALY-DE 1 109529658 109529658 single base substitution G A intron_variant MALY-DE 1 109537020 109537020 insertion of <=200bp - A intron_variant MALY-DE 1 109539775 109539775 single base substitution C A intron_variant MALY-DE 1 109550721 109550721 single base substitution C T downstream_gene_variant MALY-DE 1 109550721 109550721 single base substitution C T intron_variant MALY-DE 1 109553947 109553947 single base substitution C G downstream_gene_variant MALY-DE 1 109553947 109553947 single base substitution C G missense_variant D213H 637G>C MALY-DE 1 109553947 109553947 single base substitution C G missense_variant D241H 721G>C MALY-DE 1 109553947 109553947 single base substitution C G missense_variant D248H 742G>C MALY-DE 1 109555645 109555645 single base substitution G A downstream_gene_variant MALY-DE 1 109555645 109555645 single base substitution G A intron_variant MALY-DE 1 109564098 109564098 single base substitution T A intron_variant MALY-DE 1 109567060 109567060 single base substitution A C intron_variant MALY-DE 1 109586304 109586304 single base substitution G A upstream_gene_variant MALY-DE 1 109589715 109589715 single base substitution G A upstream_gene_variant MELA-AU 1 109508040 109508040 single base substitution C T downstream_gene_variant MELA-AU 1 109508081 109508081 single base substitution G A downstream_gene_variant MELA-AU 1 109508695 109508695 single base substitution C T downstream_gene_variant MELA-AU 1 109509470 109509470 single base substitution G A downstream_gene_variant MELA-AU 1 109510698 109510698 single base substitution C T downstream_gene_variant MELA-AU 1 109510772 109510772 single base substitution G A downstream_gene_variant MELA-AU 1 109511194 109511194 single base substitution G A downstream_gene_variant MELA-AU 1 109511282 109511282 single base substitution G A downstream_gene_variant MELA-AU 1 109511504 109511505 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 109511580 109511580 single base substitution A T downstream_gene_variant MELA-AU 1 109511656 109511656 single base substitution G A downstream_gene_variant MELA-AU 1 109512010 109512010 single base substitution C T downstream_gene_variant MELA-AU 1 109512403 109512403 single base substitution G A downstream_gene_variant MELA-AU 1 109514169 109514169 single base substitution G A synonymous_variant I853I 2559C>T MELA-AU 1 109514169 109514169 single base substitution G A synonymous_variant I881I 2643C>T MELA-AU 1 109514169 109514169 single base substitution G A synonymous_variant I882I 2646C>T MELA-AU 1 109514169 109514169 single base substitution G A synonymous_variant I889I 2667C>T MELA-AU 1 109514722 109514722 single base substitution A G intron_variant MELA-AU 1 109515521 109515521 single base substitution T A intron_variant MELA-AU 1 109516713 109516713 single base substitution G A intron_variant MELA-AU 1 109517901 109517901 single base substitution A T intron_variant MELA-AU 1 109518774 109518774 single base substitution G A intron_variant MELA-AU 1 109518879 109518879 single base substitution G A intron_variant MELA-AU 1 109519013 109519013 single base substitution G A intron_variant MELA-AU 1 109519419 109519419 single base substitution G A intron_variant MELA-AU 1 109519852 109519853 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 1 109519907 109519907 single base substitution G A intron_variant MELA-AU 1 109520013 109520013 single base substitution A T intron_variant MELA-AU 1 109520073 109520073 single base substitution G A intron_variant MELA-AU 1 109521078 109521078 single base substitution G A intron_variant MELA-AU 1 109521616 109521616 single base substitution G A intron_variant MELA-AU 1 109522300 109522300 single base substitution A T intron_variant MELA-AU 1 109522750 109522750 single base substitution C A intron_variant MELA-AU 1 109522758 109522758 single base substitution G A intron_variant MELA-AU 1 109522928 109522928 single base substitution T G intron_variant MELA-AU 1 109523175 109523175 single base substitution A G intron_variant MELA-AU 1 109524285 109524285 single base substitution G A intron_variant MELA-AU 1 109525927 109525927 single base substitution T C missense_variant N663S 1988A>G MELA-AU 1 109525927 109525927 single base substitution T C missense_variant N691S 2072A>G MELA-AU 1 109525927 109525927 single base substitution T C missense_variant N692S 2075A>G MELA-AU 1 109525927 109525927 single base substitution T C missense_variant N699S 2096A>G MELA-AU 1 109527395 109527395 single base substitution G A intron_variant MELA-AU 1 109528117 109528117 single base substitution A C intron_variant MELA-AU 1 109529336 109529336 single base substitution A G intron_variant MELA-AU 1 109530281 109530281 single base substitution G A intron_variant MELA-AU 1 109530415 109530415 single base substitution T C intron_variant MELA-AU 1 109530833 109530833 single base substitution G A intron_variant MELA-AU 1 109531012 109531012 single base substitution C T intron_variant MELA-AU 1 109531943 109531943 single base substitution G A intron_variant MELA-AU 1 109532208 109532208 single base substitution G A intron_variant MELA-AU 1 109532587 109532587 single base substitution G A intron_variant MELA-AU 1 109532652 109532652 single base substitution C T intron_variant MELA-AU 1 109532776 109532776 single base substitution G A intron_variant MELA-AU 1 109533154 109533154 single base substitution G A intron_variant MELA-AU 1 109533405 109533405 single base substitution G A intron_variant MELA-AU 1 109533454 109533454 single base substitution C T intron_variant MELA-AU 1 109533669 109533669 single base substitution G A intron_variant MELA-AU 1 109533842 109533842 single base substitution G A intron_variant MELA-AU 1 109534251 109534251 single base substitution C T intron_variant MELA-AU 1 109534778 109534778 single base substitution G A intron_variant MELA-AU 1 109534809 109534809 single base substitution G A intron_variant MELA-AU 1 109534930 109534930 single base substitution G A intron_variant MELA-AU 1 109534939 109534939 single base substitution G A intron_variant MELA-AU 1 109535357 109535357 single base substitution G A intron_variant MELA-AU 1 109535453 109535453 single base substitution G A intron_variant MELA-AU 1 109535520 109535520 single base substitution G A intron_variant MELA-AU 1 109536340 109536340 single base substitution G A intron_variant MELA-AU 1 109536451 109536451 single base substitution G A intron_variant MELA-AU 1 109536782 109536782 single base substitution G A intron_variant MELA-AU 1 109537068 109537068 single base substitution G A intron_variant MELA-AU 1 109537946 109537946 single base substitution A G intron_variant MELA-AU 1 109537948 109537948 single base substitution G A intron_variant MELA-AU 1 109538502 109538502 single base substitution A T intron_variant MELA-AU 1 109538842 109538842 single base substitution A C intron_variant MELA-AU 1 109538842 109538842 single base substitution A G intron_variant MELA-AU 1 109538982 109538982 single base substitution A T intron_variant MELA-AU 1 109539717 109539717 single base substitution G T intron_variant MELA-AU 1 109540442 109540442 single base substitution G A intron_variant MELA-AU 1 109541982 109541982 single base substitution A T intron_variant MELA-AU 1 109542348 109542348 single base substitution G A intron_variant MELA-AU 1 109542412 109542412 single base substitution G A intron_variant MELA-AU 1 109542526 109542526 single base substitution G A intron_variant MELA-AU 1 109542639 109542639 single base substitution G A intron_variant MELA-AU 1 109542923 109542923 single base substitution G A intron_variant MELA-AU 1 109542968 109542968 single base substitution T A intron_variant MELA-AU 1 109543027 109543027 single base substitution G A intron_variant MELA-AU 1 109543231 109543231 single base substitution G A intron_variant MELA-AU 1 109543531 109543531 single base substitution A G intron_variant MELA-AU 1 109543557 109543557 single base substitution T A intron_variant MELA-AU 1 109543743 109543743 single base substitution C T intron_variant MELA-AU 1 109544336 109544336 single base substitution A G intron_variant MELA-AU 1 109544907 109544907 single base substitution C T missense_variant G430S 1288G>A MELA-AU 1 109544907 109544907 single base substitution C T missense_variant G458S 1372G>A MELA-AU 1 109544907 109544907 single base substitution C T missense_variant G459S 1375G>A MELA-AU 1 109544907 109544907 single base substitution C T missense_variant G466S 1396G>A MELA-AU 1 109544951 109544951 single base substitution T A missense_variant K415M 1244A>T MELA-AU 1 109544951 109544951 single base substitution T A missense_variant K443M 1328A>T MELA-AU 1 109544951 109544951 single base substitution T A missense_variant K444M 1331A>T MELA-AU 1 109544951 109544951 single base substitution T A missense_variant K451M 1352A>T MELA-AU 1 109545382 109545382 single base substitution G A intron_variant MELA-AU 1 109545938 109545938 single base substitution T C intron_variant MELA-AU 1 109546257 109546257 single base substitution G T intron_variant MELA-AU 1 109546338 109546338 single base substitution G A intron_variant MELA-AU 1 109546515 109546515 single base substitution G A intron_variant MELA-AU 1 109547547 109547547 single base substitution G A intron_variant MELA-AU 1 109547716 109547716 single base substitution G A intron_variant MELA-AU 1 109548084 109548084 single base substitution G A intron_variant MELA-AU 1 109548188 109548188 single base substitution G A intron_variant MELA-AU 1 109548410 109548410 single base substitution G A intron_variant MELA-AU 1 109548418 109548418 single base substitution G A intron_variant MELA-AU 1 109548709 109548709 single base substitution G A intron_variant MELA-AU 1 109549080 109549080 single base substitution G A intron_variant MELA-AU 1 109549552 109549552 single base substitution T A downstream_gene_variant MELA-AU 1 109549552 109549552 single base substitution T A intron_variant MELA-AU 1 109549813 109549814 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 109549813 109549814 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 109550679 109550679 single base substitution A G downstream_gene_variant MELA-AU 1 109550679 109550679 single base substitution A G intron_variant MELA-AU 1 109550777 109550777 single base substitution C T downstream_gene_variant MELA-AU 1 109550777 109550777 single base substitution C T intron_variant MELA-AU 1 109551601 109551601 single base substitution G A downstream_gene_variant MELA-AU 1 109551601 109551601 single base substitution G A intron_variant MELA-AU 1 109551923 109551923 single base substitution G A downstream_gene_variant MELA-AU 1 109551923 109551923 single base substitution G A intron_variant MELA-AU 1 109552073 109552074 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 109552073 109552074 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 109552153 109552154 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 109552153 109552154 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 109552395 109552395 single base substitution G A downstream_gene_variant MELA-AU 1 109552395 109552395 single base substitution G A intron_variant MELA-AU 1 109553251 109553251 single base substitution C T downstream_gene_variant MELA-AU 1 109553251 109553251 single base substitution C T intron_variant MELA-AU 1 109553572 109553572 single base substitution C T downstream_gene_variant MELA-AU 1 109553572 109553572 single base substitution C T missense_variant E338K 1012G>A MELA-AU 1 109553572 109553572 single base substitution C T missense_variant E366K 1096G>A MELA-AU 1 109553572 109553572 single base substitution C T missense_variant E373K 1117G>A MELA-AU 1 109555122 109555122 single base substitution G A downstream_gene_variant MELA-AU 1 109555122 109555122 single base substitution G A intron_variant MELA-AU 1 109555348 109555348 single base substitution G A downstream_gene_variant MELA-AU 1 109555348 109555348 single base substitution G A intron_variant MELA-AU 1 109555716 109555716 single base substitution C A downstream_gene_variant MELA-AU 1 109555716 109555716 single base substitution C A intron_variant MELA-AU 1 109556151 109556151 single base substitution G A downstream_gene_variant MELA-AU 1 109556151 109556151 single base substitution G A intron_variant MELA-AU 1 109557291 109557291 single base substitution A G intron_variant MELA-AU 1 109557637 109557637 single base substitution G A intron_variant MELA-AU 1 109557732 109557732 single base substitution G A intron_variant MELA-AU 1 109557745 109557745 single base substitution G A intron_variant MELA-AU 1 109557768 109557768 single base substitution G A intron_variant MELA-AU 1 109558181 109558181 single base substitution C T intron_variant MELA-AU 1 109558188 109558188 single base substitution G A intron_variant MELA-AU 1 109558747 109558747 single base substitution G A intron_variant MELA-AU 1 109559000 109559000 single base substitution G A intron_variant MELA-AU 1 109559007 109559007 single base substitution G A intron_variant MELA-AU 1 109559578 109559578 single base substitution G A intron_variant MELA-AU 1 109559616 109559616 single base substitution G A intron_variant MELA-AU 1 109560415 109560415 single base substitution C T intron_variant MELA-AU 1 109560830 109560830 single base substitution G A intron_variant MELA-AU 1 109560940 109560940 single base substitution G C intron_variant MELA-AU 1 109560950 109560950 single base substitution A C intron_variant MELA-AU 1 109561419 109561419 single base substitution G A intron_variant MELA-AU 1 109561456 109561456 single base substitution G A intron_variant MELA-AU 1 109562249 109562249 single base substitution C T intron_variant MELA-AU 1 109562643 109562643 single base substitution G A intron_variant MELA-AU 1 109562652 109562652 single base substitution G A intron_variant MELA-AU 1 109562985 109562985 single base substitution C G intron_variant MELA-AU 1 109563153 109563153 single base substitution G A intron_variant MELA-AU 1 109563572 109563572 single base substitution G A intron_variant MELA-AU 1 109563912 109563913 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 109564282 109564282 single base substitution G A intron_variant MELA-AU 1 109564660 109564660 single base substitution G A intron_variant MELA-AU 1 109565070 109565070 single base substitution G A intron_variant MELA-AU 1 109565124 109565124 single base substitution G A intron_variant MELA-AU 1 109565398 109565398 single base substitution G A intron_variant MELA-AU 1 109565757 109565757 single base substitution G A intron_variant MELA-AU 1 109565967 109565967 single base substitution G A intron_variant MELA-AU 1 109566325 109566325 single base substitution G A intron_variant MELA-AU 1 109566403 109566403 single base substitution G A intron_variant MELA-AU 1 109566432 109566432 single base substitution G A intron_variant MELA-AU 1 109567856 109567856 single base substitution G A intron_variant MELA-AU 1 109567879 109567879 single base substitution G A intron_variant MELA-AU 1 109567960 109567960 single base substitution G A intron_variant MELA-AU 1 109568029 109568029 single base substitution G A intron_variant MELA-AU 1 109568622 109568622 single base substitution G A intron_variant MELA-AU 1 109569677 109569678 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 1 109570135 109570135 single base substitution G A intron_variant MELA-AU 1 109570234 109570234 single base substitution C T intron_variant MELA-AU 1 109570332 109570332 single base substitution G A intron_variant MELA-AU 1 109571059 109571059 single base substitution C T intron_variant MELA-AU 1 109571448 109571448 single base substitution A G intron_variant MELA-AU 1 109572192 109572192 single base substitution G A intron_variant MELA-AU 1 109572405 109572405 single base substitution A C intron_variant MELA-AU 1 109574183 109574183 single base substitution T A intron_variant MELA-AU 1 109575062 109575063 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 109575556 109575556 single base substitution A C intron_variant MELA-AU 1 109576133 109576133 single base substitution A G intron_variant MELA-AU 1 109576333 109576333 single base substitution G A intron_variant MELA-AU 1 109576408 109576408 single base substitution G A intron_variant MELA-AU 1 109576625 109576625 single base substitution T C intron_variant MELA-AU 1 109576735 109576735 single base substitution A G intron_variant MELA-AU 1 109576914 109576914 single base substitution T A intron_variant MELA-AU 1 109577928 109577928 single base substitution G A intron_variant MELA-AU 1 109578561 109578561 single base substitution C T intron_variant MELA-AU 1 109578672 109578672 single base substitution G A intron_variant MELA-AU 1 109580225 109580226 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 109580710 109580710 single base substitution C T intron_variant MELA-AU 1 109580730 109580730 single base substitution G C intron_variant MELA-AU 1 109581276 109581276 single base substitution G A intron_variant MELA-AU 1 109581280 109581280 single base substitution G A intron_variant MELA-AU 1 109581858 109581858 single base substitution G A intron_variant MELA-AU 1 109581906 109581906 single base substitution C T intron_variant MELA-AU 1 109582826 109582826 single base substitution G A intron_variant MELA-AU 1 109585177 109585177 single base substitution T G upstream_gene_variant MELA-AU 1 109585433 109585433 single base substitution C T upstream_gene_variant MELA-AU 1 109586140 109586140 single base substitution G A upstream_gene_variant MELA-AU 1 109586450 109586450 single base substitution G A upstream_gene_variant MELA-AU 1 109586604 109586604 single base substitution A T upstream_gene_variant MELA-AU 1 109587126 109587126 single base substitution C T upstream_gene_variant MELA-AU 1 109587227 109587227 single base substitution C T upstream_gene_variant MELA-AU 1 109587327 109587327 single base substitution G A upstream_gene_variant MELA-AU 1 109587469 109587469 single base substitution T C upstream_gene_variant MELA-AU 1 109587539 109587539 single base substitution T A upstream_gene_variant MELA-AU 1 109588583 109588583 single base substitution G A upstream_gene_variant MELA-AU 1 109588947 109588947 single base substitution T G upstream_gene_variant MELA-AU 1 109589594 109589594 single base substitution T C upstream_gene_variant MELA-AU 1 109589840 109589840 single base substitution G A upstream_gene_variant ORCA-IN 1 109515997 109515997 single base substitution G A intron_variant ORCA-IN 1 109534922 109534922 single base substitution G C intron_variant ORCA-IN 1 109558042 109558042 single base substitution T A intron_variant ORCA-IN 1 109586922 109586922 single base substitution G A upstream_gene_variant OV-AU 1 109512153 109512153 single base substitution A C downstream_gene_variant OV-AU 1 109514126 109514126 single base substitution A G missense_variant W868R 2602T>C OV-AU 1 109514126 109514126 single base substitution A G missense_variant W896R 2686T>C OV-AU 1 109514126 109514126 single base substitution A G missense_variant W897R 2689T>C OV-AU 1 109514126 109514126 single base substitution A G missense_variant W904R 2710T>C OV-AU 1 109516139 109516139 single base substitution T G intron_variant OV-AU 1 109517003 109517003 single base substitution G T intron_variant OV-AU 1 109520692 109520692 single base substitution A G intron_variant OV-AU 1 109526602 109526602 single base substitution G C intron_variant OV-AU 1 109537017 109537017 single base substitution C A intron_variant OV-AU 1 109540345 109540345 single base substitution G A intron_variant OV-AU 1 109540800 109540800 single base substitution G T intron_variant OV-AU 1 109542443 109542443 single base substitution A G intron_variant OV-AU 1 109547212 109547212 single base substitution A G splice_donor_variant OV-AU 1 109547479 109547479 single base substitution C T intron_variant OV-AU 1 109553001 109553001 single base substitution G C downstream_gene_variant OV-AU 1 109553001 109553001 single base substitution G C intron_variant OV-AU 1 109557817 109557817 single base substitution T A intron_variant OV-AU 1 109560485 109560485 single base substitution C G intron_variant OV-AU 1 109566209 109566209 single base substitution G T intron_variant OV-AU 1 109572342 109572342 single base substitution T A intron_variant OV-AU 1 109583134 109583134 single base substitution G C intron_variant PACA-AU 1 109511572 109511572 single base substitution C T downstream_gene_variant PACA-AU 1 109514827 109514827 single base substitution T C intron_variant PACA-AU 1 109519332 109519332 single base substitution C T intron_variant PACA-AU 1 109522063 109522063 single base substitution G A intron_variant PACA-AU 1 109522532 109522532 single base substitution C T intron_variant PACA-AU 1 109525351 109525351 single base substitution A G missense_variant F688L 2062T>C PACA-AU 1 109525351 109525351 single base substitution A G missense_variant F716L 2146T>C PACA-AU 1 109525351 109525351 single base substitution A G missense_variant F717L 2149T>C PACA-AU 1 109525351 109525351 single base substitution A G missense_variant F724L 2170T>C PACA-AU 1 109532027 109532027 single base substitution T C intron_variant PACA-AU 1 109539135 109539135 single base substitution C G intron_variant PACA-AU 1 109541073 109541073 single base substitution A G intron_variant PACA-AU 1 109544505 109544505 single base substitution C A intron_variant PACA-AU 1 109544506 109544506 single base substitution C A intron_variant PACA-AU 1 109547035 109547035 single base substitution C T intron_variant PACA-AU 1 109554014 109554014 single base substitution T C downstream_gene_variant PACA-AU 1 109554014 109554014 single base substitution T C synonymous_variant E190E 570A>G PACA-AU 1 109554014 109554014 single base substitution T C synonymous_variant E218E 654A>G PACA-AU 1 109554014 109554014 single base substitution T C synonymous_variant E225E 675A>G PACA-AU 1 109556392 109556392 single base substitution G A downstream_gene_variant PACA-AU 1 109556392 109556392 single base substitution G A intron_variant PACA-AU 1 109558897 109558897 single base substitution C T intron_variant PACA-AU 1 109562864 109562864 single base substitution T G intron_variant PACA-AU 1 109566046 109566046 single base substitution C T intron_variant PACA-AU 1 109566046 109566046 single base substitution C T missense_variant S30N 89G>A PACA-AU 1 109570805 109570805 single base substitution T C intron_variant PACA-AU 1 109572294 109572294 insertion of <=200bp - TAAA intron_variant PACA-AU 1 109574241 109574241 deletion of <=200bp A - intron_variant PACA-AU 1 109583387 109583389 deletion of <=200bp CTT - intron_variant PACA-CA 1 109509778 109509778 single base substitution G A downstream_gene_variant PACA-CA 1 109516705 109516705 single base substitution A G intron_variant PACA-CA 1 109516984 109516984 single base substitution A G intron_variant PACA-CA 1 109518133 109518133 single base substitution C T intron_variant PACA-CA 1 109518426 109518426 single base substitution T A intron_variant PACA-CA 1 109519068 109519068 single base substitution C T intron_variant PACA-CA 1 109523694 109523694 single base substitution G A intron_variant PACA-CA 1 109524385 109524385 single base substitution G A missense_variant R762C 2284C>T PACA-CA 1 109524385 109524385 single base substitution G A missense_variant R790C 2368C>T PACA-CA 1 109524385 109524385 single base substitution G A missense_variant R791C 2371C>T PACA-CA 1 109524385 109524385 single base substitution G A missense_variant R798C 2392C>T PACA-CA 1 109524946 109524946 single base substitution G T intron_variant PACA-CA 1 109527919 109527919 deletion of <=200bp A - intron_variant PACA-CA 1 109530723 109530723 single base substitution C T intron_variant PACA-CA 1 109536747 109536747 single base substitution C T intron_variant PACA-CA 1 109539019 109539019 deletion of <=200bp A - intron_variant PACA-CA 1 109542470 109542470 single base substitution C G intron_variant PACA-CA 1 109542731 109542731 single base substitution A T intron_variant PACA-CA 1 109543343 109543343 single base substitution A G intron_variant PACA-CA 1 109544853 109544853 single base substitution G T missense_variant L448I 1342C>A PACA-CA 1 109544853 109544853 single base substitution G T missense_variant L476I 1426C>A PACA-CA 1 109544853 109544853 single base substitution G T missense_variant L477I 1429C>A PACA-CA 1 109544853 109544853 single base substitution G T missense_variant L484I 1450C>A PACA-CA 1 109550973 109550973 single base substitution C A downstream_gene_variant PACA-CA 1 109550973 109550973 single base substitution C A intron_variant PACA-CA 1 109552354 109552354 single base substitution T G downstream_gene_variant PACA-CA 1 109552354 109552354 single base substitution T G intron_variant PACA-CA 1 109555064 109555064 single base substitution G A downstream_gene_variant PACA-CA 1 109555064 109555064 single base substitution G A intron_variant PACA-CA 1 109562780 109562780 single base substitution A C intron_variant PACA-CA 1 109563631 109563631 single base substitution C G intron_variant PACA-CA 1 109566921 109566921 single base substitution A T intron_variant PACA-CA 1 109576401 109576401 single base substitution C T intron_variant PACA-CA 1 109581425 109581425 single base substitution C A intron_variant PACA-CA 1 109584704 109584704 single base substitution G C 5_prime_UTR_variant PACA-CA 1 109584704 109584704 single base substitution G C upstream_gene_variant PACA-CA 1 109585527 109585527 single base substitution C A upstream_gene_variant PACA-CA 1 109586498 109586498 single base substitution A G upstream_gene_variant PACA-CA 1 109586755 109586755 single base substitution G A upstream_gene_variant PAEN-IT 1 109539944 109539944 single base substitution G A intron_variant PBCA-DE 1 109510746 109510746 single base substitution T C downstream_gene_variant PBCA-DE 1 109513825 109513825 single base substitution C T 3_prime_UTR_variant PBCA-DE 1 109520425 109520425 single base substitution G A intron_variant PBCA-DE 1 109522313 109522313 single base substitution C T intron_variant PBCA-DE 1 109523859 109523860 deletion of <=200bp TG - intron_variant PBCA-DE 1 109526041 109526041 single base substitution C T missense_variant R625H 1874G>A PBCA-DE 1 109526041 109526041 single base substitution C T missense_variant R653H 1958G>A PBCA-DE 1 109526041 109526041 single base substitution C T missense_variant R654H 1961G>A PBCA-DE 1 109526041 109526041 single base substitution C T missense_variant R661H 1982G>A PBCA-DE 1 109529978 109529978 single base substitution G A intron_variant PBCA-DE 1 109544937 109544937 single base substitution G A stop_gained Q420* 1258C>T PBCA-DE 1 109544937 109544937 single base substitution G A stop_gained Q448* 1342C>T PBCA-DE 1 109544937 109544937 single base substitution G A stop_gained Q449* 1345C>T PBCA-DE 1 109544937 109544937 single base substitution G A stop_gained Q456* 1366C>T PBCA-DE 1 109562297 109562297 single base substitution G A intron_variant PBCA-DE 1 109564393 109564393 single base substitution C T intron_variant PBCA-DE 1 109570238 109570238 single base substitution C T intron_variant PBCA-DE 1 109588494 109588494 deletion of <=200bp T - upstream_gene_variant PBCA-DE 1 109588933 109588933 single base substitution C T upstream_gene_variant PRAD-CA 1 109532296 109532296 single base substitution T C intron_variant PRAD-CA 1 109533000 109533000 single base substitution T G intron_variant PRAD-CA 1 109533410 109533410 single base substitution A C intron_variant PRAD-CA 1 109563524 109563524 single base substitution C T intron_variant PRAD-CA 1 109569831 109569831 single base substitution C T intron_variant PRAD-CA 1 109588619 109588619 single base substitution G T upstream_gene_variant PRAD-UK 1 109524951 109524951 single base substitution T G intron_variant PRAD-UK 1 109537139 109537139 single base substitution G A intron_variant PRAD-UK 1 109538934 109538934 single base substitution C G intron_variant PRAD-UK 1 109559616 109559616 single base substitution G A intron_variant PRAD-UK 1 109586796 109586796 single base substitution C G upstream_gene_variant READ-US 1 109538349 109538349 single base substitution G T missense_variant S487Y 1460C>A READ-US 1 109538349 109538349 single base substitution G T missense_variant S515Y 1544C>A READ-US 1 109538349 109538349 single base substitution G T missense_variant S516Y 1547C>A READ-US 1 109538349 109538349 single base substitution G T missense_variant S523Y 1568C>A RECA-EU 1 109517006 109517006 single base substitution A G intron_variant RECA-EU 1 109519435 109519435 single base substitution T A intron_variant RECA-EU 1 109531915 109531915 single base substitution A T intron_variant RECA-EU 1 109546562 109546562 single base substitution T G intron_variant RECA-EU 1 109552329 109552329 single base substitution T G downstream_gene_variant RECA-EU 1 109552329 109552329 single base substitution T G intron_variant RECA-EU 1 109575367 109575367 single base substitution A G intron_variant RECA-EU 1 109577485 109577485 single base substitution A T intron_variant RECA-EU 1 109584041 109584041 single base substitution C T intron_variant RECA-EU 1 109585695 109585695 single base substitution G A upstream_gene_variant SKCA-BR 1 109509433 109509435 deletion of <=200bp CAT - downstream_gene_variant SKCA-BR 1 109509853 109509854 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 1 109511278 109511278 insertion of <=200bp - AG downstream_gene_variant SKCA-BR 1 109511656 109511656 single base substitution G A downstream_gene_variant SKCA-BR 1 109512254 109512254 single base substitution G A downstream_gene_variant SKCA-BR 1 109515354 109515354 single base substitution G A intron_variant SKCA-BR 1 109515569 109515570 deletion of <=200bp GA - intron_variant SKCA-BR 1 109517271 109517271 single base substitution A G missense_variant V807A 2420T>C SKCA-BR 1 109517271 109517271 single base substitution A G missense_variant V835A 2504T>C SKCA-BR 1 109517271 109517271 single base substitution A G missense_variant V836A 2507T>C SKCA-BR 1 109517271 109517271 single base substitution A G missense_variant V843A 2528T>C SKCA-BR 1 109517697 109517697 insertion of <=200bp - TAA intron_variant SKCA-BR 1 109521929 109521929 single base substitution G C intron_variant SKCA-BR 1 109522124 109522124 single base substitution G A intron_variant SKCA-BR 1 109524285 109524285 single base substitution G A intron_variant SKCA-BR 1 109540743 109540743 single base substitution T A intron_variant SKCA-BR 1 109545193 109545193 single base substitution G A intron_variant SKCA-BR 1 109546704 109546704 single base substitution G A intron_variant SKCA-BR 1 109547174 109547174 single base substitution G A intron_variant SKCA-BR 1 109553200 109553201 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 1 109553200 109553201 deletion of <=200bp AT - intron_variant SKCA-BR 1 109555194 109555194 insertion of <=200bp - CAAAA downstream_gene_variant SKCA-BR 1 109555194 109555194 insertion of <=200bp - CAAAA intron_variant SKCA-BR 1 109557399 109557399 single base substitution G A intron_variant SKCA-BR 1 109557718 109557718 single base substitution C T intron_variant SKCA-BR 1 109559616 109559616 single base substitution G A intron_variant SKCA-BR 1 109559696 109559696 single base substitution C T intron_variant SKCA-BR 1 109563524 109563524 single base substitution C T intron_variant SKCA-BR 1 109564149 109564149 insertion of <=200bp - CA intron_variant SKCA-BR 1 109567751 109567751 single base substitution T C intron_variant SKCA-BR 1 109570774 109570774 single base substitution C T intron_variant SKCA-BR 1 109577688 109577688 single base substitution G A intron_variant SKCA-BR 1 109580268 109580268 single base substitution A C intron_variant SKCA-BR 1 109580652 109580652 single base substitution G T intron_variant SKCA-BR 1 109580968 109580968 single base substitution G A intron_variant SKCA-BR 1 109582456 109582456 single base substitution G A intron_variant SKCA-BR 1 109585993 109585994 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 1 109586239 109586239 single base substitution A C upstream_gene_variant SKCA-BR 1 109586241 109586241 single base substitution C A upstream_gene_variant SKCA-BR 1 109586536 109586536 single base substitution A G upstream_gene_variant SKCA-BR 1 109587529 109587530 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 1 109588060 109588060 single base substitution A C upstream_gene_variant SKCA-BR 1 109589159 109589159 insertion of <=200bp - AT upstream_gene_variant SKCM-US 1 109524385 109524385 single base substitution G A missense_variant R762C 2284C>T SKCM-US 1 109524385 109524385 single base substitution G A missense_variant R790C 2368C>T SKCM-US 1 109524385 109524385 single base substitution G A missense_variant R791C 2371C>T SKCM-US 1 109524385 109524385 single base substitution G A missense_variant R798C 2392C>T SKCM-US 1 109525357 109525357 single base substitution A G synonymous_variant L686L 2056T>C SKCM-US 1 109525357 109525357 single base substitution A G synonymous_variant L714L 2140T>C SKCM-US 1 109525357 109525357 single base substitution A G synonymous_variant L715L 2143T>C SKCM-US 1 109525357 109525357 single base substitution A G synonymous_variant L722L 2164T>C SKCM-US 1 109529264 109529264 single base substitution G A synonymous_variant I574I 1722C>T SKCM-US 1 109529264 109529264 single base substitution G A synonymous_variant I602I 1806C>T SKCM-US 1 109529264 109529264 single base substitution G A synonymous_variant I603I 1809C>T SKCM-US 1 109529264 109529264 single base substitution G A synonymous_variant I610I 1830C>T SKCM-US 1 109538218 109538218 single base substitution G A missense_variant P531S 1591C>T SKCM-US 1 109538218 109538218 single base substitution G A missense_variant P559S 1675C>T SKCM-US 1 109538218 109538218 single base substitution G A missense_variant P560S 1678C>T SKCM-US 1 109538218 109538218 single base substitution G A missense_variant P567S 1699C>T SKCM-US 1 109544854 109544854 single base substitution G A synonymous_variant F447F 1341C>T SKCM-US 1 109544854 109544854 single base substitution G A synonymous_variant F475F 1425C>T SKCM-US 1 109544854 109544854 single base substitution G A synonymous_variant F476F 1428C>T SKCM-US 1 109544854 109544854 single base substitution G A synonymous_variant F483F 1449C>T SKCM-US 1 109553612 109553612 single base substitution C A downstream_gene_variant SKCM-US 1 109553612 109553612 single base substitution C A synonymous_variant G324G 972G>T SKCM-US 1 109553612 109553612 single base substitution C A synonymous_variant G352G 1056G>T SKCM-US 1 109553612 109553612 single base substitution C A synonymous_variant G359G 1077G>T SKCM-US 1 109553733 109553733 single base substitution G A downstream_gene_variant SKCM-US 1 109553733 109553733 single base substitution G A missense_variant S284F 851C>T SKCM-US 1 109553733 109553733 single base substitution G A missense_variant S312F 935C>T SKCM-US 1 109553733 109553733 single base substitution G A missense_variant S319F 956C>T SKCM-US 1 109553968 109553968 single base substitution C A downstream_gene_variant SKCM-US 1 109553968 109553968 single base substitution C A missense_variant G206C 616G>T SKCM-US 1 109553968 109553968 single base substitution C A missense_variant G234C 700G>T SKCM-US 1 109553968 109553968 single base substitution C A missense_variant G241C 721G>T SKCM-US 1 109554018 109554018 single base substitution C T downstream_gene_variant SKCM-US 1 109554018 109554018 single base substitution C T missense_variant G189E 566G>A SKCM-US 1 109554018 109554018 single base substitution C T missense_variant G217E 650G>A SKCM-US 1 109554018 109554018 single base substitution C T missense_variant G224E 671G>A SKCM-US 1 109554153 109554153 single base substitution A G downstream_gene_variant SKCM-US 1 109554153 109554153 single base substitution A G missense_variant V144A 431T>C SKCM-US 1 109554153 109554153 single base substitution A G missense_variant V172A 515T>C SKCM-US 1 109554153 109554153 single base substitution A G missense_variant V179A 536T>C SKCM-US 1 109556543 109556543 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 1 109556543 109556543 single base substitution G A missense_variant R10C 28C>T SKCM-US 1 109556543 109556543 single base substitution G A missense_variant R55C 163C>T SKCM-US 1 109556543 109556543 single base substitution G A missense_variant R83C 247C>T SKCM-US 1 109566060 109566060 single base substitution C T intron_variant SKCM-US 1 109566060 109566060 single base substitution C T synonymous_variant K25K 75G>A STAD-US 1 109514146 109514146 single base substitution T A missense_variant D861V 2582A>T STAD-US 1 109514146 109514146 single base substitution T A missense_variant D889V 2666A>T STAD-US 1 109514146 109514146 single base substitution T A missense_variant D890V 2669A>T STAD-US 1 109514146 109514146 single base substitution T A missense_variant D897V 2690A>T STAD-US 1 109525279 109525279 single base substitution T C missense_variant T712A 2134A>G STAD-US 1 109525279 109525279 single base substitution T C missense_variant T740A 2218A>G STAD-US 1 109525279 109525279 single base substitution T C missense_variant T741A 2221A>G STAD-US 1 109525279 109525279 single base substitution T C missense_variant T748A 2242A>G STAD-US 1 109538366 109538366 single base substitution G T synonymous_variant G481G 1443C>A STAD-US 1 109538366 109538366 single base substitution G T synonymous_variant G509G 1527C>A STAD-US 1 109538366 109538366 single base substitution G T synonymous_variant G510G 1530C>A STAD-US 1 109538366 109538366 single base substitution G T synonymous_variant G517G 1551C>A STAD-US 1 109538449 109538449 single base substitution T C missense_variant K454E 1360A>G STAD-US 1 109538449 109538449 single base substitution T C missense_variant K482E 1444A>G STAD-US 1 109538449 109538449 single base substitution T C missense_variant K483E 1447A>G STAD-US 1 109538449 109538449 single base substitution T C missense_variant K490E 1468A>G STAD-US 1 109547218 109547218 deletion of <=200bp T - frameshift_variant N389 STAD-US 1 109547218 109547218 deletion of <=200bp T - frameshift_variant N417 STAD-US 1 109547218 109547218 deletion of <=200bp T - frameshift_variant N418 STAD-US 1 109547218 109547218 deletion of <=200bp T - frameshift_variant N425 STAD-US 1 109553687 109553687 single base substitution A G downstream_gene_variant STAD-US 1 109553687 109553687 single base substitution A G synonymous_variant H299H 897T>C STAD-US 1 109553687 109553687 single base substitution A G synonymous_variant H327H 981T>C STAD-US 1 109553687 109553687 single base substitution A G synonymous_variant H334H 1002T>C STAD-US 1 109553736 109553736 single base substitution C T downstream_gene_variant STAD-US 1 109553736 109553736 single base substitution C T missense_variant R283H 848G>A STAD-US 1 109553736 109553736 single base substitution C T missense_variant R311H 932G>A STAD-US 1 109553736 109553736 single base substitution C T missense_variant R318H 953G>A STAD-US 1 109556515 109556515 insertion of <=200bp - A 5_prime_UTR_variant STAD-US 1 109556515 109556515 insertion of <=200bp - A frameshift_variant L19F? STAD-US 1 109556515 109556515 insertion of <=200bp - A frameshift_variant L64F? STAD-US 1 109556515 109556515 insertion of <=200bp - A frameshift_variant L92F? STAD-US 1 109560159 109560159 single base substitution C T intron_variant STAD-US 1 109560159 109560159 single base substitution C T missense_variant E2K 4G>A STAD-US 1 109560159 109560159 single base substitution C T missense_variant E75K 223G>A THCA-US 1 109544904 109544904 single base substitution C G missense_variant V431L 1291G>C THCA-US 1 109544904 109544904 single base substitution C G missense_variant V459L 1375G>C THCA-US 1 109544904 109544904 single base substitution C G missense_variant V460L 1378G>C THCA-US 1 109544904 109544904 single base substitution C G missense_variant V467L 1399G>C THCA-US 1 109560177 109560177 single base substitution G A 5_prime_UTR_variant THCA-US 1 109560177 109560177 single base substitution G A intron_variant THCA-US 1 109560177 109560177 single base substitution G A stop_gained Q69* 205C>T THCA-US 1 109560186 109560186 single base substitution G A 5_prime_UTR_variant THCA-US 1 109560186 109560186 single base substitution G A intron_variant THCA-US 1 109560186 109560186 single base substitution G A stop_gained Q66* 196C>T UCEC-US 1 109514090 109514090 single base substitution C T missense_variant A880T 2638G>A UCEC-US 1 109514090 109514090 single base substitution C T missense_variant A908T 2722G>A UCEC-US 1 109514090 109514090 single base substitution C T missense_variant A909T 2725G>A UCEC-US 1 109514090 109514090 single base substitution C T missense_variant A916T 2746G>A UCEC-US 1 109525353 109525353 single base substitution G A missense_variant A687V 2060C>T UCEC-US 1 109525353 109525353 single base substitution G A missense_variant A715V 2144C>T UCEC-US 1 109525353 109525353 single base substitution G A missense_variant A716V 2147C>T UCEC-US 1 109525353 109525353 single base substitution G A missense_variant A723V 2168C>T UCEC-US 1 109545020 109545020 single base substitution C T missense_variant R392Q 1175G>A UCEC-US 1 109545020 109545020 single base substitution C T missense_variant R420Q 1259G>A UCEC-US 1 109545020 109545020 single base substitution C T missense_variant R421Q 1262G>A UCEC-US 1 109545020 109545020 single base substitution C T missense_variant R428Q 1283G>A UCEC-US 1 109553951 109553951 single base substitution A C downstream_gene_variant UCEC-US 1 109553951 109553951 single base substitution A C missense_variant D211E 633T>G UCEC-US 1 109553951 109553951 single base substitution A C missense_variant D239E 717T>G UCEC-US 1 109553951 109553951 single base substitution A C missense_variant D246E 738T>G UCEC-US 1 109554195 109554195 single base substitution C A downstream_gene_variant UCEC-US 1 109554195 109554195 single base substitution C A missense_variant S130I 389G>T UCEC-US 1 109554195 109554195 single base substitution C A missense_variant S158I 473G>T UCEC-US 1 109554195 109554195 single base substitution C A missense_variant S165I 494G>T UCEC-US 1 109554195 109554195 single base substitution C A missense_variant S85I 254G>T UCEC-US 1 109554274 109554274 single base substitution C A downstream_gene_variant UCEC-US 1 109554274 109554274 single base substitution C A missense_variant D104Y 310G>T UCEC-US 1 109554274 109554274 single base substitution C A missense_variant D132Y 394G>T UCEC-US 1 109554274 109554274 single base substitution C A missense_variant D139Y 415G>T UCEC-US 1 109554274 109554274 single base substitution C A missense_variant D32Y 94G>T UCEC-US 1 109554274 109554274 single base substitution C A missense_variant D59Y 175G>T UCEC-US 1 109566104 109566104 single base substitution C A intron_variant UCEC-US 1 109566104 109566104 single base substitution C A stop_gained E11* 31G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 46M COSM5589354 c.6G>A p.T2T Substitution - coding silent 1:109023507-109023507 - TCGA-AX-A0J1-01 COSM4867857 c.2168C>T p.A723V Substitution - Missense 1:108982731-108982731 - HCC73 COSM3369185 c.205C>T p.Q69* Substitution - Nonsense 1:109017555-109017555 - TCGA-D3-A2J8-06 COSM3470781 c.247C>T p.R83C Substitution - Missense 1:109013921-109013921 - ICGC_MB3 COSM3764091 c.1982G>A p.R661H Substitution - Missense 1:108983419-108983419 - 8057600 COSM3384989 c.89G>A p.S30N Substitution - Missense 1:109023424-109023424 - PD10010a COSM5772814 c.113G>T p.S38I Substitution - Missense 1:109023400-109023400 - YUTEPA COSM1688218 c.859C>T p.L287F Substitution - Missense 1:109011187-109011187 - BK0038 COSM4187126 c.2140A>G p.M714V Substitution - Missense 1:108982759-108982759 - TCGA-27-2524-01 COSM3399520 c.990A>T p.G330G Substitution - coding silent 1:109011077-109011077 - BCM735T COSM4790631 c.85A>G p.I29V Substitution - Missense 1:109023428-109023428 - ESCC_13 COSM5625000 c.1867C>T p.H623Y Substitution - Missense 1:108986605-108986605 - SK-MEL-2 COSM1667770 c.2353C>T p.R785* Substitution - Nonsense 1:108981781-108981781 - TCGA-BH-A1FG-01 COSM1472376 c.850T>G p.L284V Substitution - Missense 1:109011196-109011196 - 250LT COSM4382500 c.1229C>T p.P410L Substitution - Missense 1:109004641-109004641 - TCGA-04-1350-01 COSM78772 c.1661C>G p.P554R Substitution - Missense 1:108995613-108995613 - TCGA-EE-A2GN-06 COSM3470775 c.721G>T p.G241C Substitution - Missense 1:109011346-109011346 - TCGA-A8-A0A6-01 COSM3801155 c.2675T>G p.V892G Substitution - Missense 1:108971518-108971518 - ATL036 COSM5704823 c.1401T>A p.D467E Substitution - Missense 1:109002259-109002259 - 23_FL COSM4170530 c.2093C>G p.A698G Substitution - Missense 1:108983287-108983287 - PD10010a COSM5772815 c.113G>T p.S38I Substitution - Missense 1:109023400-109023400 - CHC2098T COSM4788316 c.1523G>T p.S508I Substitution - Missense 1:108995751-108995751 - TCGA-UB-A7MB-01 COSM4931173 c.908A>G p.Q303R Substitution - Missense 1:109011138-109011138 - HCC49 COSM3704800 c.1087C>A p.L363I Substitution - Missense 1:109010980-109010980 - TCGA-ER-A19P-06 COSM3470771 c.1077G>T p.G359G Substitution - coding silent 1:109010990-109010990 - PCSI_0476_Pa_P_526 COSM3470765 c.2392C>T p.R798C Substitution - Missense 1:108981763-108981763 - T3152 COSM4740974 c.1150C>T p.R384* Substitution - Nonsense 1:109010917-109010917 - TCGA-BR-8368-01 COSM4020282 c.932G>A p.R311H Substitution - Missense 1:109011114-109011114 - PARBRK COSM5005575 c.341T>C p.M114T Substitution - Missense 1:109011705-109011705 - T2940 COSM4740973 c.1810C>A p.L604I Substitution - Missense 1:108986641-108986641 - TCGA-D5-6930-01 COSM1332389 c.241delA p.R81fs*7 Deletion - Frameshift 1:109017519-109017519 - TCGA-CM-6162-01 COSM1332389 c.241delA p.R81fs*7 Deletion - Frameshift 1:109017519-109017519 - T3503 COSM4217358 c.1634G>A p.R545H Substitution - Missense 1:108995640-108995640 - ATL036 COSM5704822 c.1422T>A p.D474E Substitution - Missense 1:109002259-109002259 - TCGA-B0-4849-01 COSM3360194 c.739T>A p.L247M Substitution - Missense 1:109011328-109011328 - TCGA-DJ-A4UT-01 COSM3369184 c.205C>T p.Q69* Substitution - Nonsense 1:109017555-109017555 - 587220 COSM1232598 c.1621A>C p.T541P Substitution - Missense 1:108995653-108995653 - STC291 COSM5052360 c.2738T>C p.V913A Substitution - Missense 1:108971455-108971455 - TCGA-DJ-A4UT-01 COSM3369186 c.196C>T p.Q66* Substitution - Nonsense 1:109017564-109017564 - TCGA-FW-A3R5-06 COSM3862106 c.1699C>T p.P567S Substitution - Missense 1:108995596-108995596 - 12P3 COSM3733581 c.2191G>A p.G731R Substitution - Missense 1:108982708-108982708 - CHC2098T COSM4788315 c.1544G>T p.S515I Substitution - Missense 1:108995751-108995751 - PT38 COSM5922123 c.1991G>A p.R664K Substitution - Missense 1:108983410-108983410 - TCGA-F5-6814-01 COSM3417827 c.1568C>A p.S523Y Substitution - Missense 1:108995727-108995727 - TCGA-AA-3554-01 COSM292283 c.741G>A p.W247* Substitution - Nonsense 1:109011305-109011305 - TCGA-34-5236-01 COSM674493 c.1664T>C p.F555S Substitution - Missense 1:108995610-108995610 - YUNEKI COSM5377104 c.2321C>T p.S774F Substitution - Missense 1:108981813-108981813 - tumor_4159421 COSM5946626 c.1954G>T p.V652L Substitution - Missense 1:108983426-108983426 - PT38 COSM5922124 c.1970G>A p.R657K Substitution - Missense 1:108983410-108983410 - HCC73 COSM3369184 c.205C>T p.Q69* Substitution - Nonsense 1:109017555-109017555 - C135 COSM4217378 c.623G>A p.G208D Substitution - Missense 1:109011444-109011444 - CHC1611T COSM4789239 c.1282C>T p.R428* Substitution - Nonsense 1:109002399-109002399 - 8066458 COSM3771381 c.654A>G p.E218E Substitution - coding silent 1:109011392-109011392 - HCC73T COSM3369184 c.205C>T p.Q69* Substitution - Nonsense 1:109017555-109017555 - 8066458 COSM3771380 c.675A>G p.E225E Substitution - coding silent 1:109011392-109011392 - EGC3 COSM4334722 c.241delA p.R81fs*7 Deletion - Frameshift 1:109017519-109017519 - TCGA-FW-A3R5-06 COSM3862107 c.1678C>T p.P560S Substitution - Missense 1:108995596-108995596 - TCGA-AA-A00N-01 COSM278125 c.1787A>C p.K596T Substitution - Missense 1:108986664-108986664 - BK0038 COSM4187127 c.2119A>G p.M707V Substitution - Missense 1:108982759-108982759 - CHC1611T COSM4789239 c.1282C>T p.R428* Substitution - Nonsense 1:109002399-109002399 - TCGA-EE-A3JA-06 COSM3470769 c.1449C>T p.F483F Substitution - coding silent 1:109002232-109002232 - T3503 COSM4217357 c.1655G>A p.R552H Substitution - Missense 1:108995640-108995640 - YUPLA COSM5377101 c.2452C>T p.P818S Substitution - Missense 1:108974725-108974725 - HCC063T COSM5812326 c.1915A>T p.R639* Substitution - Nonsense 1:108986557-108986557 - CSCC-32-T COSM4525673 c.1345G>A p.E449K Substitution - Missense 1:109002336-109002336 - TCGA-E2-A15P-01 COSM423383 c.2195G>A p.G732E Substitution - Missense 1:108982683-108982683 - TCGA-CJ-4869-01 COSM1491644 c.394G>C p.D132H Substitution - Missense 1:109011652-109011652 - TCGA-BR-8368-01 COSM4020281 c.953G>A p.R318H Substitution - Missense 1:109011114-109011114 - TCGA-34-5236-01 COSM4860541 c.1685T>C p.F562S Substitution - Missense 1:108995610-108995610 - BD35T COSM5520084 c.223G>T p.E75* Substitution - Nonsense 1:109017537-109017537 - TCGA-GC-A3RB-01 COSM4812536 c.1465C>G p.Q489E Substitution - Missense 1:108995830-108995830 - YUNEKI COSM5377103 c.2342C>T p.S781F Substitution - Missense 1:108981813-108981813 - HCC49T COSM1600488 c.1066C>A p.L356I Substitution - Missense 1:109010980-109010980 - 250LT COSM4382501 c.1208C>T p.P403L Substitution - Missense 1:109004641-109004641 - T2940 COSM4740972 c.1831C>A p.L611I Substitution - Missense 1:108986641-108986641 - CSCC-59-T COSM4521386 c.1087G>C p.E363Q Substitution - Missense 1:109010959-109010959 - TCGA-B5-A11E-01 COSM893428 c.473G>T p.S158I Substitution - Missense 1:109011573-109011573 - TCGA-AN-A046-01 COSM3801157 c.2548C>T p.R850* Substitution - Nonsense 1:108974608-108974608 - tumor_4159421 COSM5946625 c.1975G>T p.V659L Substitution - Missense 1:108983426-108983426 - 12P3 COSM3733582 c.2170G>A p.G724R Substitution - Missense 1:108982708-108982708 - T2197 COSM4334722 c.241delA p.R81fs*7 Deletion - Frameshift 1:109017519-109017519 - sysucc-311T COSM5477386 c.2203G>A p.D735N Substitution - Missense 1:108982675-108982675 - 93VU147T COSM4591241 c.2356G>A p.V786I Substitution - Missense 1:108981778-108981778 - TCGA-HU-A4GQ-01 COSM4020283 c.223G>A p.E75K Substitution - Missense 1:109017537-109017537 - CSCC-59-T COSM4521385 c.1108G>C p.E370Q Substitution - Missense 1:109010959-109010959 - TCGA-JX-A3Q0-01 COSM4824343 c.2566C>T p.H856Y Substitution - Missense 1:108974590-108974590 - TCGA-DK-A3WW-01 COSM3788378 c.2482G>A p.E828K Substitution - Missense 1:108974695-108974695 - TCGA-F1-6177-01 COSM4020280 c.981T>C p.H327H Substitution - coding silent 1:109011065-109011065 - TCGA-42-2587-01 COSM1320173 c.2104G>T p.D702Y Substitution - Missense 1:108982774-108982774 - TCGA-EE-A2GI-06 COSM3470783 c.75G>A p.K25K Substitution - coding silent 1:109023438-109023438 - TCGA-A5-A0G9-01 COSM893426 c.684C>T p.G228G Substitution - coding silent 1:109011362-109011362 - TCGA-FS-A1ZK-06 COSM3470768 c.2143T>C p.L715L Substitution - coding silent 1:108982735-108982735 - TCGA-F5-6814-01 COSM3417828 c.1547C>A p.S516Y Substitution - Missense 1:108995727-108995727 - 2492702 COSM5716349 c.406C>A p.P136T Substitution - Missense 1:109011661-109011661 - PCSI_0083_Pa_X COSM3376635 c.1450C>A p.L484I Substitution - Missense 1:109002231-109002231 - CHC1611T COSM4789240 c.1261C>T p.R421* Substitution - Nonsense 1:109002399-109002399 - C709 COSM4443724 c.1949G>T p.S650I Substitution - Missense 1:108986523-108986523 - E22 COSM1666253 c.869A>G p.K290R Substitution - Missense 1:109011177-109011177 - D20 COSM5007845 c.2477G>A p.G826D Substitution - Missense 1:108974700-108974700 - HCC49T COSM3704800 c.1087C>A p.L363I Substitution - Missense 1:109010980-109010980 - TCGA-AP-A059-01 COSM893422 c.2725G>A p.A909T Substitution - Missense 1:108971468-108971468 - TCGA-BR-4256-01 COSM4020278 c.1447A>G p.K483E Substitution - Missense 1:108995827-108995827 - TCGA-DJ-A2Q7-01 COSM3369182 c.1399G>C p.V467L Substitution - Missense 1:109002282-109002282 - TCGA-UB-A7MB-01 COSM4931172 c.929A>G p.Q310R Substitution - Missense 1:109011138-109011138 - sysucc-863T COSM5765278 c.708T>C p.G236G Substitution - coding silent 1:109011338-109011338 - LAU618 COSM233761 c.1117G>A p.E373K Substitution - Missense 1:109010929-109010929 - TCGA-FS-A1ZC-06 COSM3470773 c.956C>T p.S319F Substitution - Missense 1:109011111-109011111 - PT53 COSM5941177 c.2120-3C>T p.? Unknown 1:108982782-108982782 - TCGA-F4-6703-01 COSM1332389 c.241delA p.R81fs*7 Deletion - Frameshift 1:109017519-109017519 - TCGA-EE-A2MS-06 COSM3470780 c.515T>C p.V172A Substitution - Missense 1:109011531-109011531 - TCGA-CG-4442-01 COSM4020273 c.2242A>G p.T748A Substitution - Missense 1:108982657-108982657 - TCGA-FS-A1ZC-06 COSM3470774 c.935C>T p.S312F Substitution - Missense 1:109011111-109011111 - BCM735T COSM4790632 c.85A>G p.I29V Substitution - Missense 1:109023428-109023428 - TCGA-22-5492-01 COSM674495 c.2295G>T p.W765C Substitution - Missense 1:108981839-108981839 - PT24_2 COSM5904527 c.2620+7G>T p.? Unknown 1:108974529-108974529 - TCGA-D5-6531-01 COSM5163228 c.1410_1412delGGA p.E470delE Deletion - In frame 1:109002269-109002271 - EGC3 COSM1332389 c.241delA p.R81fs*7 Deletion - Frameshift 1:109017519-109017519 - PARBRK COSM5005574 c.362T>C p.M121T Substitution - Missense 1:109011705-109011705 - TCGA-AA-3672-01 COSM267758 c.2062G>A p.V688M Substitution - Missense 1:108983318-108983318 - TCGA-FU-A3TX-01 COSM4849379 c.2733C>T p.F911F Substitution - coding silent 1:108971481-108971481 - GC_350T-GC_350N COSM4771941 c.1407G>A p.Q469Q Substitution - coding silent 1:109002274-109002274 - TCGA-A8-A0A6-01 COSM3801159 c.961A>C p.T321P Substitution - Missense 1:109011085-109011085 - Pat_41_B COSM5842972 c.2347G>A p.D783N Substitution - Missense 1:108981787-108981787 - TCGA-FU-A3TX-01 COSM4849380 c.2712C>T p.F904F Substitution - coding silent 1:108971481-108971481 - PCSI_0083_Pa_P_526 COSM3376636 c.1429C>A p.L477I Substitution - Missense 1:109002231-109002231 - TCGA-CG-4300-01 COSM4020271 c.2690A>T p.D897V Substitution - Missense 1:108971524-108971524 - TCGA-CA-6717-01 COSM1332387 c.1651A>C p.N551H Substitution - Missense 1:108995623-108995623 - TCGA-CA-6717-01 COSM4947829 c.1672A>C p.N558H Substitution - Missense 1:108995623-108995623 - ESCC_102 COSM5637994 c.1148A>T p.E383V Substitution - Missense 1:109010919-109010919 - TCGA-A8-A0A6-01 COSM3801158 c.982A>C p.T328P Substitution - Missense 1:109011085-109011085 - TCGA-22-5492-01 COSM4860514 c.2316G>T p.W772C Substitution - Missense 1:108981839-108981839 - 3 COSM5010582 c.331G>T p.E111* Substitution - Nonsense 1:109011715-109011715 - TCGA-AP-A0LM-01 COSM893424 c.1262G>A p.R421Q Substitution - Missense 1:109002398-109002398 - ESCC_109 COSM5638776 c.1117G>C p.E373Q Substitution - Missense 1:109010950-109010950 - TCGA-BS-A0UF-01 COSM4875862 c.415G>T p.D139Y Substitution - Missense 1:109011652-109011652 - TCGA-B5-A11E-01 COSM4870124 c.494G>T p.S165I Substitution - Missense 1:109011573-109011573 - TCGA-BG-A0LW-01 COSM893427 c.664G>C p.E222Q Substitution - Missense 1:109011382-109011382 - TCGA-A2-A0YK-01 COSM4812877 c.556G>T p.D186Y Substitution - Missense 1:109011511-109011511 - TCGA-AA-3713-01 COSM4948860 c.2077G>A p.V693I Substitution - Missense 1:108983324-108983324 - ESCC_13 COSM5625001 c.1846C>T p.H616Y Substitution - Missense 1:108986605-108986605 - TCGA-G3-A25T-01 COSM4941550 c.750T>C p.S250S Substitution - coding silent 1:109011317-109011317 - TCGA-AA-3713-01 COSM1332384 c.2056G>A p.V686I Substitution - Missense 1:108983324-108983324 - HCC73T COSM3369185 c.205C>T p.Q69* Substitution - Nonsense 1:109017555-109017555 - TCGA-A2-A0YK-01 COSM423385 c.535G>T p.D179Y Substitution - Missense 1:109011511-109011511 - TCGA-AN-A046-01 COSM3801156 c.2569C>T p.R857* Substitution - Nonsense 1:108974608-108974608 - HN_62432 COSM130198 c.403A>G p.S135G Substitution - Missense 1:109011643-109011643 - TCGA-CA-6717-01 COSM4947969 c.881T>G p.L294R Substitution - Missense 1:109011186-109011186 - J65_T COSM3975835 c.2262G>C p.Q754H Substitution - Missense 1:108982637-108982637 - TCGA-JX-A3Q0-01 COSM4824342 c.2587C>T p.H863Y Substitution - Missense 1:108974590-108974590 - TCGA-CG-4300-01 COSM4020272 c.2669A>T p.D890V Substitution - Missense 1:108971524-108971524 - 587220 COSM1232597 c.1624A>G p.S542G Substitution - Missense 1:108995650-108995650 - GC_350T-GC_350N COSM4771942 c.1386G>A p.Q462Q Substitution - coding silent 1:109002274-109002274 - CHC2098T COSM4788316 c.1523G>T p.S508I Substitution - Missense 1:108995751-108995751 - BCM735T COSM4790632 c.85A>G p.I29V Substitution - Missense 1:109023428-109023428 - TCGA-CC-A7IH-01 COSM4923354 c.2158G>A p.G720S Substitution - Missense 1:108982720-108982720 - CSCC-32-T COSM4525674 c.1324G>A p.E442K Substitution - Missense 1:109002336-109002336 - sysucc-863T COSM5765277 c.729T>C p.G243G Substitution - coding silent 1:109011338-109011338 - 587376 COSM1232599 c.37G>T p.E13* Substitution - Nonsense 1:109023476-109023476 - TCGA-DJ-A4UT-01 COSM3369187 c.196C>T p.Q66* Substitution - Nonsense 1:109017564-109017564 - PT53 COSM5941178 c.2099-3C>T p.? Unknown 1:108982782-108982782 - J65_T COSM3975836 c.2241G>C p.Q747H Substitution - Missense 1:108982637-108982637 - TCGA-BS-A0UJ-01 COSM4871376 c.738T>G p.D246E Substitution - Missense 1:109011329-109011329 - pfg127T COSM4334722 c.241delA p.R81fs*7 Deletion - Frameshift 1:109017519-109017519 - TCGA-CC-A7IH-01 COSM4923353 c.2179G>A p.G727S Substitution - Missense 1:108982720-108982720 - PCSI_0083_Pa_P_526 COSM3376635 c.1450C>A p.L484I Substitution - Missense 1:109002231-109002231 - TCGA-FW-A3R5-06 COSM3862105 c.1809C>T p.I603I Substitution - coding silent 1:108986642-108986642 - HCC063T COSM5812327 c.1894A>T p.R632* Substitution - Nonsense 1:108986557-108986557 - sysucc-1370T COSM5469477 c.348+6C>T p.? Unknown 1:109013814-109013814 - TCGA-EE-A2MS-06 COSM3470779 c.536T>C p.V179A Substitution - Missense 1:109011531-109011531 - TCGA-AP-A0LM-01 COSM4873298 c.31G>T p.E11* Substitution - Nonsense 1:109023482-109023482 - AOCS-106-1-1 COSM4004661 c.2710T>C p.W904R Substitution - Missense 1:108971504-108971504 - BD236T COSM5518189 c.2696C>T p.T899I Substitution - Missense 1:108971497-108971497 - TCGA-AA-3510-01 COSM4785867 c.2644G>A p.D882N Substitution - Missense 1:108971570-108971570 - TCGA-EE-A3JA-06 COSM3470770 c.1428C>T p.F476F Substitution - coding silent 1:109002232-109002232 - TCGA-FS-A1ZK-06 COSM3470767 c.2164T>C p.L722L Substitution - coding silent 1:108982735-108982735 - TCGA-DJ-A4UT-01 COSM3369185 c.205C>T p.Q69* Substitution - Nonsense 1:109017555-109017555 - TCGA-IR-A3LH-01 COSM4832603 c.982G>A p.D328N Substitution - Missense 1:109011064-109011064 - TCGA-AA-A02R-01 COSM1332389 c.241delA p.R81fs*7 Deletion - Frameshift 1:109017519-109017519 - TCGA-A3-3320-01 COSM1134652 c.401A>G p.Y134C Substitution - Missense 1:109011645-109011645 - TCGA-BR-A453-01 COSM4020276 c.1530C>A p.G510G Substitution - coding silent 1:108995744-108995744 - 46M COSM5589353 c.6G>A p.T2T Substitution - coding silent 1:109023507-109023507 - TCGA-G4-6315-01 COSM1332383 c.2441G>A p.R814H Substitution - Missense 1:108974715-108974715 - TCGA-CA-6717-01 COSM1332388 c.860T>G p.L287R Substitution - Missense 1:109011186-109011186 - MN-54 COSM1578614 c.2668G>C p.D890H Substitution - Missense 1:108971525-108971525 - TCGA-G3-A25T-01 COSM4941551 c.729T>C p.S243S Substitution - coding silent 1:109011317-109011317 - TCGA-AP-A059-01 COSM4866796 c.2746G>A p.A916T Substitution - Missense 1:108971468-108971468 - TCGA-ER-A19A-06 COSM3470765 c.2392C>T p.R798C Substitution - Missense 1:108981763-108981763 - S02299 COSM5689800 c.1458-2A>T p.? Unknown 1:108995839-108995839 - HN_62741 COSM130197 c.679C>G p.L227V Substitution - Missense 1:109011367-109011367 - YUPLA COSM5377102 c.2431C>T p.P811S Substitution - Missense 1:108974725-108974725 - BD35T COSM5520083 c.223G>T p.E75* Substitution - Nonsense 1:109017537-109017537 - T3152 COSM4740975 c.1129C>T p.R377* Substitution - Nonsense 1:109010917-109010917 - HCC49 COSM1600488 c.1066C>A p.L356I Substitution - Missense 1:109010980-109010980 - TCGA-D3-A2J8-06 COSM3470782 c.247C>T p.R83C Substitution - Missense 1:109013921-109013921 - 2492702 COSM5716350 c.385C>A p.P129T Substitution - Missense 1:109011661-109011661 - TCGA-AA-3663-01 COSM1332389 c.241delA p.R81fs*7 Deletion - Frameshift 1:109017519-109017519 - TCGA-DJ-A2Q7-01 COSM3369183 c.1378G>C p.V460L Substitution - Missense 1:109002282-109002282 - TCGA-AA-3510-01 COSM1332382 c.2623G>A p.D875N Substitution - Missense 1:108971570-108971570 - TCGA-AP-A0LM-01 COSM893430 c.31G>T p.E11* Substitution - Nonsense 1:109023482-109023482 - TCGA-EE-A180-06 COSM3470777 c.671G>A p.G224E Substitution - Missense 1:109011396-109011396 - TCGA-BS-A0UF-01 COSM893429 c.394G>T p.D132Y Substitution - Missense 1:109011652-109011652 - CHC2098T COSM4788315 c.1544G>T p.S515I Substitution - Missense 1:108995751-108995751 - 8035125 COSM3384987 c.2170T>C p.F724L Substitution - Missense 1:108982729-108982729 - BD236T COSM5518188 c.2717C>T p.T906I Substitution - Missense 1:108971497-108971497 - TCGA-A1-A0SN-01 COSM4816031 c.1646G>A p.S549N Substitution - Missense 1:108995649-108995649 - TCGA-A8-A0A6-01 COSM3801154 c.2696T>G p.V899G Substitution - Missense 1:108971518-108971518 - TCGA-EE-A2GN-06 COSM3470776 c.700G>T p.G234C Substitution - Missense 1:109011346-109011346 - ESO-2143 COSM1270400 c.124_125insT p.N42fs*7 Insertion - Frameshift 1:109023388-109023389 - 8057600 COSM3384990 c.89G>A p.S30N Substitution - Missense 1:109023424-109023424 - AOCS-123-1-7 COSM4004663 c.1278+2T>C p.? Unknown 1:109004590-109004590 - HCC152T COSM5807181 c.2443C>G p.L815V Substitution - Missense 1:108974713-108974713 - S02299 COSM5689801 c.1437-2A>T p.? Unknown 1:108995839-108995839 - LUAD-B00416 COSM331081 c.2099-1G>T p.? Unknown 1:108982780-108982780 - 3 COSM5010581 c.352G>T p.E118* Substitution - Nonsense 1:109011715-109011715 - TCGA-AD-6889-01 COSM1332389 c.241delA p.R81fs*7 Deletion - Frameshift 1:109017519-109017519 - PCSI_0083_Pa_P COSM3376636 c.1429C>A p.L477I Substitution - Missense 1:109002231-109002231 - TCGA-D5-6531-01 COSM5163229 c.1389_1391delGGA p.E463delE Deletion - In frame 1:109002269-109002271 - YUKAT COSM5377107 c.321C>T p.P107P Substitution - coding silent 1:109013847-109013847 - TCGA-GC-A3RB-01 COSM1294667 c.1444C>G p.Q482E Substitution - Missense 1:108995830-108995830 - PT24_2 COSM5904526 c.2641+7G>T p.? Unknown 1:108974529-108974529 - pfg127T COSM1332389 c.241delA p.R81fs*7 Deletion - Frameshift 1:109017519-109017519 - TCGA-B0-4849-01 COSM3360195 c.718T>A p.L240M Substitution - Missense 1:109011328-109011328 - 8035125 COSM3384988 c.2149T>C p.F717L Substitution - Missense 1:108982729-108982729 - TCGA-27-2524-01 COSM3399521 c.969A>T p.G323G Substitution - coding silent 1:109011077-109011077 - C135 COSM2117329 c.602G>A p.G201D Substitution - Missense 1:109011444-109011444 - ESCC_109 COSM5638777 c.1096G>C p.E366Q Substitution - Missense 1:109010950-109010950 - TCGA-HU-A4GQ-01 COSM4020284 c.223G>A p.E75K Substitution - Missense 1:109017537-109017537 - HCC152T COSM5807180 c.2464C>G p.L822V Substitution - Missense 1:108974713-108974713 - CHC1611T COSM4789240 c.1261C>T p.R421* Substitution - Nonsense 1:109002399-109002399 - YURAY COSM5377106 c.1547C>T p.S516F Substitution - Missense 1:108995727-108995727 - TCGA-CG-4442-01 COSM4020274 c.2221A>G p.T741A Substitution - Missense 1:108982657-108982657 - 93VU147T COSM4591240 c.2377G>A p.V793I Substitution - Missense 1:108981778-108981778 - TCGA-BH-A1FG-01 COSM4813093 c.871T>G p.L291V Substitution - Missense 1:109011196-109011196 - TCGA-ER-A19P-06 COSM3470772 c.1056G>T p.G352G Substitution - coding silent 1:109010990-109010990 - TCGA-DM-A28A-01 COSM5170242 c.115G>A p.G39R Substitution - Missense 1:109023398-109023398 - TCGA-BR-4256-01 COSM4020277 c.1468A>G p.K490E Substitution - Missense 1:108995827-108995827 - TCGA-F1-6177-01 COSM4020279 c.1002T>C p.H334H Substitution - coding silent 1:109011065-109011065 - Pat_41_B COSM5842971 c.2368G>A p.D790N Substitution - Missense 1:108981787-108981787 - TCGA-IR-A3LH-01 COSM4832602 c.1003G>A p.D335N Substitution - Missense 1:109011064-109011064 - TCGA-BR-A453-01 COSM4020275 c.1551C>A p.G517G Substitution - coding silent 1:108995744-108995744 - LUAD-NYU1051S COSM368421 c.847C>T p.L283F Substitution - Missense 1:109011199-109011199 - TCGA-A6-6781-01 COSM5094248 c.1932A>G p.A644A Substitution - coding silent 1:108983448-108983448 - BCM735T COSM4790631 c.85A>G p.I29V Substitution - Missense 1:109023428-109023428 - ICGC_MB3 COSM3764092 c.1961G>A p.R654H Substitution - Missense 1:108983419-108983419 - TCGA-FW-A3R5-06 COSM3862104 c.1830C>T p.I610I Substitution - coding silent 1:108986642-108986642 - TCGA-A1-A0SN-01 COSM1472375 c.1625G>A p.S542N Substitution - Missense 1:108995649-108995649 - sysucc-311T COSM5477385 c.2224G>A p.D742N Substitution - Missense 1:108982675-108982675 - YURAY COSM5377105 c.1568C>T p.S523F Substitution - Missense 1:108995727-108995727 - TCGA-EE-A180-06 COSM3470778 c.650G>A p.G217E Substitution - Missense 1:109011396-109011396 - TCGA-BS-A0UJ-01 COSM893425 c.717T>G p.D239E Substitution - Missense 1:109011329-109011329 - AOCS-123-1-7 COSM4004664 c.1257+2T>C p.? Unknown 1:109004590-109004590 - ESCC_102 COSM5637995 c.1127A>T p.E376V Substitution - Missense 1:109010919-109010919 - TCGA-AX-A0J1-01 COSM893423 c.2147C>T p.A716V Substitution - Missense 1:108982731-108982731 - TCGA-EE-A2GI-06 COSM3470784 c.75G>A p.K25K Substitution - coding silent 1:109023438-109023438 - P81 COSM1736286 c.1603G>T p.D535Y Substitution - Missense 1:108995671-108995671 - TCGA-AP-A0LM-01 COSM4873709 c.1283G>A p.R428Q Substitution - Missense 1:109002398-109002398 - C709 COSM4443725 c.1928G>T p.S643I Substitution - Missense 1:108986523-108986523 - PCSI_0083_Pa_X COSM3376636 c.1429C>A p.L477I Substitution - Missense 1:109002231-109002231 - STC291 COSM5052359 c.2759T>C p.V920A Substitution - Missense 1:108971455-108971455 - LUAD-CHTN-MAD06-00668 COSM358179 c.773G>T p.C258F Substitution - Missense 1:109011273-109011273 - PCSI_0476_Pa_P_526 COSM3470766 c.2371C>T p.R791C Substitution - Missense 1:108981763-108981763 - TCGA-G4-6315-01 COSM4784535 c.2462G>A p.R821H Substitution - Missense 1:108974715-108974715 - TCGA-ER-A19A-06 COSM3470766 c.2371C>T p.R791C Substitution - Missense 1:108981763-108981763 - PCSI_0083_Pa_P COSM3376635 c.1450C>A p.L484I Substitution - Missense 1:109002231-109002231 - AOCS-106-1-1 COSM4004662 c.2689T>C p.W897R Substitution - Missense 1:108971504-108971504 - T2197 COSM1332389 c.241delA p.R81fs*7 Deletion - Frameshift 1:109017519-109017519 - 23_FL COSM4170529 c.2114C>G p.A705G Substitution - Missense 1:108983287-108983287 - TCGA-E2-A15P-01 COSM4815975 c.2216G>A p.G739E Substitution - Missense 1:108982683-108982683 - D20 COSM5007846 c.2456G>A p.G819D Substitution - Missense 1:108974700-108974700 - TCGA-AA-3833-01 COSM271604 c.2294G>A p.W765* Substitution - Nonsense 1:108981840-108981840 - YUKAT COSM5377108 c.321C>T p.P107P Substitution - coding silent 1:109013847-109013847 - TCGA-DK-A3WW-01 COSM3788379 c.2461G>A p.E821K Substitution - Missense 1:108974695-108974695 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.570011;Hs.570021;Hs.570026;Hs.570027;Hs.570028;Hs.570055 1p13.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L291V c.871T>G 1 109553818 BRCA A G IntronicSNV . c.1-17166T>C 1 109583300 PIA A G Missense p.F562S c.1685T>C 1 109538232 LUSC A G Missense p.L883P c.2648T>C 1 109514188 STAD A G Missense p.V179A c.536T>C 1 109554153 CM A G Synonymous p.H334H c.1002T>C 1 109553687 STAD A G Synonymous p.L722L c.2164T>C 1 109525357 CM - A Nonsense p.N42*fs*1 c.123_124insT 1 109566011 ESCA ATCCAA - InFrameDeletion p.D248_L249delDL c.739_744delTTGGAT 1 109553945 BRCA A T Missense p.L247M c.739T>A 1 109553950 RCCC CAATAATAATAA - IntronicDeletion . c.1-15479_1-15468delATTGTTATTATT 1 109581610 CLL C A Missense p.D186Y c.556G>T 1 109554133 BRCA C A Missense p.G241C c.721G>T 1 109553968 CM C A Missense p.W772C c.2316G>T 1 109524461 LUAD C A Missense p.W772C c.2316G>T 1 109524461 LUSC CC AA Missense p.E564* c.1689_1690delinsTT 1 109538227 CM CC AA Missense p.G861L c.2581_2582delinsTT 1 109517217 CM CC AA Missense p.W61F c.182_183delinsTT 1 109560199 CM CC AG Missense p.G359A c.1076_1077delinsCT 1 109553612 CM CG AT Missense p.E158* c.471_472delinsAT 1 109554217 CM C G Missense p.G732A c.2195G>C 1 109525326 LUAD C G Missense p.V467L c.1399G>C 1 109544904 THCA C T IntronicSNV . c.1-17812G>A 1 109583946 CLL C T Missense p.G224E c.671G>A 1 109554018 CM C T Missense p.G739E c.2216G>A 1 109525305 BRCA C T Missense p.G774S c.2320G>A 1 109524457 CM C T Missense p.S549N c.1646G>A 1 109538271 BRCA C T Nonsense p.W254* c.762G>A 1 109553927 COREAD C T Synonymous p.K25K c.75G>A 1 109566060 CM C T Synonymous p.Q477Q c.1431G>A 1 109544872 CM G A IntronicSNV . c.1792-356C>T 1 109529658 DLBCL G A IntronicSNV . c.348+50C>T 1 109556392 CLL G A Missense p.R798C c.2392C>T 1 109524385 CM G A Missense p.R83C c.247C>T 1 109556543 CM G A Missense p.S319F c.956C>T 1 109553733 CM G A Nonsense p.Q456* c.1366C>T 1 109544937 MB G A Synonymous p.F483F c.1449C>T 1 109544854 CM G A Synonymous p.I14I c.42C>T 1 109566093 MM G C Missense p.L234V c.700C>G 1 109553989 HNSC G C Missense p.P561R c.1682C>G 1 109538235 OV G C Missense p.Q489E c.1465C>G 1 109538452 BLCA G C Nonsense p.S556* c.1667C>G 1 109538250 HNSC GG TT Missense p.Q533K c.1596_1597delinsAA 1 109538320 CM G T Missense p.Q459K c.1375C>A 1 109544928 CM G T Missense p.T228K c.683C>A 1 109554006 CM G T Synonymous p.I183I c.549C>A 1 109554140 HNSC T A 3-UTRSNV . c.2781+709A>T 1 109513346 HC T A Missense p.D897V c.2690A>T 1 109514146 STAD T A Synonymous p.G330G c.990A>T 1 109553699 GBM T C Missense p.H757R c.2270A>G 1 109525251 LUAD T C Missense p.K424R c.1271A>G 1 109547221 CM T C Missense p.K490E c.1468A>G 1 109538449 STAD T C Missense p.S142G c.424A>G 1 109554265 HNSC T C Missense p.Y141C c.422A>G 1 109554267 RCCC T - Frameshift p.R81Gfs*7 c.241delA 1 109560141 STAD