Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 247013010 247013010 + Missense_Mutation SNP G G A TCGA-ZF-AA52-01A-12D-A391-08 TCGA-ZF-AA52-10A-01D-A394-08 g.chr1:247013010G>A c.6298C>T c.(6298-6300)Cgg>Tgg p.R2100W BLCA 1 247014245 247014245 + Missense_Mutation SNP G G A TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr1:247014245G>A c.5063C>T c.(5062-5064)aCa>aTa p.T1688I BLCA 1 247024465 247024465 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr1:247024465C>T c.3868G>A c.(3868-3870)Gaa>Aaa p.E1290K BLCA 1 247025300 247025300 + Silent SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 g.chr1:247025300T>A c.3696A>T c.(3694-3696)tcA>tcT p.S1232S BLCA 1 247027261 247027261 + Missense_Mutation SNP C C G TCGA-GU-AATO-01A-11D-A391-08 TCGA-GU-AATO-10A-01D-A394-08 g.chr1:247027261C>G c.3505G>C c.(3505-3507)Gaa>Caa p.E1169Q BLCA 1 247040279 247040279 + Silent SNP C C G TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr1:247040279C>G c.2910G>C c.(2908-2910)ctG>ctC p.L970L BLCA 1 247048847 247048848 + Frame_Shift_Ins INS - - T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr1:247048847_247048848insT c.2607_2608insA c.(2605-2610)acagtgfs p.V870fs BLCA 1 247053281 247053281 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr1:247053281C>G c.2131G>C c.(2131-2133)Gag>Cag p.E711Q BLCA 1 247054351 247054351 + Missense_Mutation SNP A A C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:247054351A>C c.1957T>G c.(1957-1959)Tta>Gta p.L653V BLCA 1 247057966 247057966 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 g.chr1:247057966C>G c.1799G>C c.(1798-1800)aGa>aCa p.R600T BLCA 1 247061536 247061536 + Missense_Mutation SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr1:247061536C>G c.1597G>C c.(1597-1599)Gat>Cat p.D533H BLCA 1 247063541 247063541 + Missense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr1:247063541C>T c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K BLCA 1 247063713 247063713 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 g.chr1:247063713C>G c.1176G>C c.(1174-1176)caG>caC p.Q392H BLCA 1 247071049 247071049 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr1:247071049G>C c.568C>G c.(568-570)Cta>Gta p.L190V BRCA 1 247004162 247004162 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:247004162G>A c.6747C>T c.(6745-6747)aaC>aaT p.N2249N BRCA 1 247007193 247007193 + Missense_Mutation SNP T T G TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 g.chr1:247007193T>G c.6429A>C c.(6427-6429)ttA>ttC p.L2143F BRCA 1 247012977 247012977 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr1:247012977A>T c.6331T>A c.(6331-6333)Tct>Act p.S2111T BRCA 1 247013112 247013112 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:247013112C>G c.6196G>C c.(6196-6198)Gaa>Caa p.E2066Q BRCA 1 247014111 247014111 + Missense_Mutation SNP C C A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 g.chr1:247014111C>A c.5197G>T c.(5197-5199)Gac>Tac p.D1733Y BRCA 1 247014469 247014469 + Silent SNP C C G TCGA-A2-A0D2-01A-21W-A050-09 TCGA-A2-A0D2-10A-01W-A055-09 g.chr1:247014469C>G c.4839G>C c.(4837-4839)gtG>gtC p.V1613V BRCA 1 247016578 247016578 + Missense_Mutation SNP C C T TCGA-E2-A1IF-01A-11D-A142-09 TCGA-E2-A1IF-10A-01D-A142-09 g.chr1:247016578C>T c.4378G>A c.(4378-4380)Ggt>Agt p.G1460S BRCA 1 247024358 247024358 + Silent SNP C C T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr1:247024358C>T c.3975G>A c.(3973-3975)ccG>ccA p.P1325P BRCA 1 247024360 247024360 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 g.chr1:247024360G>C c.3973C>G c.(3973-3975)Ccg>Gcg p.P1325A BRCA 1 247025377 247025377 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:247025377G>C c.3619C>G c.(3619-3621)Ctt>Gtt p.L1207V BRCA 1 247027259 247027259 + Silent SNP T T C TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 g.chr1:247027259T>C c.3507A>G c.(3505-3507)gaA>gaG p.E1169E BRCA 1 247030635 247030635 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr1:247030635T>C c.3258A>G c.(3256-3258)ccA>ccG p.P1086P BRCA 1 247031055 247031055 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr1:247031055C>T c.3147G>A c.(3145-3147)ttG>ttA p.L1049L BRCA 1 247039420 247039420 + Frame_Shift_Del DEL T T - TCGA-A2-A0CM-01A-31W-A050-09 TCGA-A2-A0CM-10A-01W-A055-09 g.chr1:247039420delT c.3007delA c.(3007-3009)atcfs p.I1003fs BRCA 1 247040513 247040513 + Nonsense_Mutation SNP C C A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 g.chr1:247040513C>A c.2752G>T c.(2752-2754)Gaa>Taa p.E918* BRCA 1 247050544 247050544 + Missense_Mutation SNP C C G TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr1:247050544C>G c.2441G>C c.(2440-2442)gGg>gCg p.G814A BRCA 1 247053342 247053342 + Silent SNP T T C TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 g.chr1:247053342T>C c.2070A>G c.(2068-2070)tcA>tcG p.S690S BRCA 1 247059157 247059157 + Missense_Mutation SNP A A C TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr1:247059157A>C c.1694T>G c.(1693-1695)aTc>aGc p.I565S BRCA 1 247063726 247063726 + Missense_Mutation SNP T T G TCGA-AR-A1AL-01A-21D-A12Q-09 TCGA-AR-A1AL-10A-01D-A12Q-09 g.chr1:247063726T>G c.1163A>C c.(1162-1164)aAt>aCt p.N388T BRCA 1 247067282 247067282 + Missense_Mutation SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 g.chr1:247067282T>A c.935A>T c.(934-936)aAg>aTg p.K312M BRCA 1 247067320 247067320 + Missense_Mutation SNP C C G TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chr1:247067320C>G c.897G>C c.(895-897)ttG>ttC p.L299F BRCA 1 247076641 247076641 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:247076641C>T c.449G>A c.(448-450)cGa>cAa p.R150Q BRCA 1 247076643 247076643 + Silent SNP C C T TCGA-B6-A3ZX-01A-11D-A23C-09 TCGA-B6-A3ZX-10A-01D-A23C-09 g.chr1:247076643C>T c.447G>A c.(445-447)ctG>ctA p.L149L BRCA 1 247079596 247079596 + Nonsense_Mutation SNP C C A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 g.chr1:247079596C>A c.223G>T c.(223-225)Gaa>Taa p.E75* CESC 1 247013291 247013291 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr1:247013291C>G c.6017G>C c.(6016-6018)aGa>aCa p.R2006T CESC 1 247016504 247016504 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr1:247016504C>T c.4452G>A c.(4450-4452)ctG>ctA p.L1484L CESC 1 247024261 247024261 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr1:247024261C>G c.4072G>C c.(4072-4074)Gat>Cat p.D1358H CESC 1 247024352 247024352 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr1:247024352C>T c.3981G>A c.(3979-3981)ccG>ccA p.P1327P CESC 1 247031024 247031024 + Missense_Mutation SNP A A G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 g.chr1:247031024A>G c.3178T>C c.(3178-3180)Tct>Cct p.S1060P CESC 1 247061639 247061639 + Splice_Site SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 g.chr1:247061639C>T c.e12-1 CESC 1 247063409 247063409 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr1:247063409G>C c.1390C>G c.(1390-1392)Cca>Gca p.P464A CESC 1 247063499 247063499 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr1:247063499C>G c.1300G>C c.(1300-1302)Gag>Cag p.E434Q CESC 1 247065857 247065857 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:247065857G>A c.1087C>T c.(1087-1089)Cat>Tat p.H363Y CESC 1 247067298 247067298 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 g.chr1:247067298C>T c.919G>A c.(919-921)Gcc>Acc p.A307T CESC 1 247079513 247079514 + Frame_Shift_Ins INS - - A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 g.chr1:247079513_247079514insA c.305_306insT c.(304-306)gaafs p.E102fs CHOL 1 247025439 247025439 + Missense_Mutation SNP G G A TCGA-W5-AA2Q-01A-11D-A417-09 TCGA-W5-AA2Q-10A-01D-A41A-09 g.chr1:247025439G>A c.3557C>T c.(3556-3558)gCc>gTc p.A1186V COAD 1 247006035 247006035 + Missense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:247006035G>A c.6569C>T c.(6568-6570)gCg>gTg p.A2190V COAD 1 247012943 247012943 + Missense_Mutation SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr1:247012943G>A c.6365C>T c.(6364-6366)gCg>gTg p.A2122V COAD 1 247013717 247013717 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:247013717A>C c.5591T>G c.(5590-5592)gTt>gGt p.V1864G COAD 1 247014085 247014085 + Silent SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:247014085C>T c.5223G>A c.(5221-5223)acG>acA p.T1741T COAD 1 247014367 247014367 + Silent SNP A A G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr1:247014367A>G c.4941T>C c.(4939-4941)agT>agC p.S1647S COAD 1 247014367 247014367 + Silent SNP A A G TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr1:247014367A>G c.4941T>C c.(4939-4941)agT>agC p.S1647S COAD 1 247014367 247014367 + Silent SNP A A G TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr1:247014367A>G c.4941T>C c.(4939-4941)agT>agC p.S1647S COAD 1 247014452 247014452 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:247014452T>C c.4856A>G c.(4855-4857)aAc>aGc p.N1619S COAD 1 247014538 247014538 + Silent SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr1:247014538G>A c.4770C>T c.(4768-4770)agC>agT p.S1590S COAD 1 247014594 247014594 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:247014594C>T c.4714G>A c.(4714-4716)Gac>Aac p.D1572N COAD 1 247021017 247021017 + Missense_Mutation SNP A A G TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr1:247021017A>G c.4232T>C c.(4231-4233)cTt>cCt p.L1411P COAD 1 247021017 247021017 + Missense_Mutation SNP A A G TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:247021017A>G c.4232T>C c.(4231-4233)cTt>cCt p.L1411P COAD 1 247025323 247025323 + Nonsense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:247025323G>A c.3673C>T c.(3673-3675)Cga>Tga p.R1225* COAD 1 247025451 247025451 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr1:247025451G>A c.3545C>T c.(3544-3546)gCt>gTt p.A1182V COAD 1 247039371 247039372 + Missense_Mutation DNP TA TA CC TCGA-AA-A01I-01A-02W-A00E-09 TCGA-AA-A01I-10A-01W-A00E-09 g.chr1:247039371_247039372TA>CC c.3055_3056TA>GG c.(3055-3057)TAt>GGt p.Y1019G COAD 1 247040470 247040470 + Missense_Mutation SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:247040470T>C c.2795A>G c.(2794-2796)gAc>gGc p.D932G COAD 1 247040541 247040541 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:247040541T>C c.2724A>G c.(2722-2724)ttA>ttG p.L908L COAD 1 247048814 247048814 + Missense_Mutation SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:247048814T>C c.2641A>G c.(2641-2643)Act>Gct p.T881A COAD 1 247063765 247063765 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:247063765G>A c.1124C>T c.(1123-1125)tCg>tTg p.S375L COAD 1 247065838 247065838 + Missense_Mutation SNP C C T TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr1:247065838C>T c.1106G>A c.(1105-1107)gGc>gAc p.G369D COAD 1 247070992 247070992 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:247070992G>A c.625C>T c.(625-627)Cgc>Tgc p.R209C COAD 1 247071041 247071041 + Silent SNP A A G TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr1:247071041A>G c.576T>C c.(574-576)ggT>ggC p.G192G COAD 1 247071043 247071043 + Missense_Mutation SNP C C A TCGA-A6-6138-01A-11D-1771-10 TCGA-A6-6138-10A-01D-1771-10 g.chr1:247071043C>A c.574G>T c.(574-576)Ggt>Tgt p.G192C COAD 1 247071043 247071043 + Missense_Mutation SNP C C A TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr1:247071043C>A c.574G>T c.(574-576)Ggt>Tgt p.G192C COAD 1 247071043 247071043 + Missense_Mutation SNP C C A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr1:247071043C>A c.574G>T c.(574-576)Ggt>Tgt p.G192C COAD 1 247071043 247071043 + Missense_Mutation SNP C C A TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr1:247071043C>A c.574G>T c.(574-576)Ggt>Tgt p.G192C COAD 1 247071043 247071043 + Missense_Mutation SNP C C A TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr1:247071043C>A c.574G>T c.(574-576)Ggt>Tgt p.G192C COAD 1 247071043 247071043 + Missense_Mutation SNP C C T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:247071043C>T c.574G>A c.(574-576)Ggt>Agt p.G192S COAD 1 247076569 247076569 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:247076569T>C c.521A>G c.(520-522)gAc>gGc p.D174G COAD 1 247076591 247076591 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:247076591G>T c.499C>A c.(499-501)Ctt>Att p.L167I COAD 1 247079565 247079565 + Missense_Mutation SNP T T C TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:247079565T>C c.254A>G c.(253-255)gAa>gGa p.E85G COAD 1 247079629 247079629 + Nonsense_Mutation SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:247079629G>A c.190C>T c.(190-192)Cga>Tga p.R64* COADREAD 1 247006035 247006035 + Missense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:247006035G>A c.6569C>T c.(6568-6570)gCg>gTg p.A2190V COADREAD 1 247012943 247012943 + Missense_Mutation SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr1:247012943G>A c.6365C>T c.(6364-6366)gCg>gTg p.A2122V COADREAD 1 247013717 247013717 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:247013717A>C c.5591T>G c.(5590-5592)gTt>gGt p.V1864G COADREAD 1 247014085 247014085 + Silent SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:247014085C>T c.5223G>A c.(5221-5223)acG>acA p.T1741T COADREAD 1 247014367 247014367 + Silent SNP A A G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr1:247014367A>G c.4941T>C c.(4939-4941)agT>agC p.S1647S COADREAD 1 247014367 247014367 + Silent SNP A A G TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr1:247014367A>G c.4941T>C c.(4939-4941)agT>agC p.S1647S COADREAD 1 247014367 247014367 + Silent SNP A A G TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr1:247014367A>G c.4941T>C c.(4939-4941)agT>agC p.S1647S COADREAD 1 247014368 247014368 + Missense_Mutation SNP C C T TCGA-DC-6681-01A-11D-1826-10 TCGA-DC-6681-10A-01D-1826-10 g.chr1:247014368C>T c.4940G>A c.(4939-4941)aGt>aAt p.S1647N COADREAD 1 247014452 247014452 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:247014452T>C c.4856A>G c.(4855-4857)aAc>aGc p.N1619S COADREAD 1 247014538 247014538 + Silent SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr1:247014538G>A c.4770C>T c.(4768-4770)agC>agT p.S1590S COADREAD 1 247014594 247014594 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:247014594C>T c.4714G>A c.(4714-4716)Gac>Aac p.D1572N COADREAD 1 247021017 247021017 + Missense_Mutation SNP A A G TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr1:247021017A>G c.4232T>C c.(4231-4233)cTt>cCt p.L1411P COADREAD 1 247021017 247021017 + Missense_Mutation SNP A A G TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:247021017A>G c.4232T>C c.(4231-4233)cTt>cCt p.L1411P COADREAD 1 247025323 247025323 + Nonsense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:247025323G>A c.3673C>T c.(3673-3675)Cga>Tga p.R1225* COADREAD 1 247025451 247025451 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr1:247025451G>A c.3545C>T c.(3544-3546)gCt>gTt p.A1182V COADREAD 1 247039371 247039372 + Missense_Mutation DNP TA TA CC TCGA-AA-A01I-01A-02W-A00E-09 TCGA-AA-A01I-10A-01W-A00E-09 g.chr1:247039371_247039372TA>CC c.3055_3056TA>GG c.(3055-3057)TAt>GGt p.Y1019G COADREAD 1 247040470 247040470 + Missense_Mutation SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:247040470T>C c.2795A>G c.(2794-2796)gAc>gGc p.D932G COADREAD 1 247040541 247040541 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:247040541T>C c.2724A>G c.(2722-2724)ttA>ttG p.L908L COADREAD 1 247048814 247048814 + Missense_Mutation SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:247048814T>C c.2641A>G c.(2641-2643)Act>Gct p.T881A COADREAD 1 247063765 247063765 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:247063765G>A c.1124C>T c.(1123-1125)tCg>tTg p.S375L COADREAD 1 247065838 247065838 + Missense_Mutation SNP C C T TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr1:247065838C>T c.1106G>A c.(1105-1107)gGc>gAc p.G369D COADREAD 1 247067334 247067334 + Splice_Site SNP C C T TCGA-AG-3902-01A-01W-1073-09 TCGA-AG-3902-10A-01W-1073-09 g.chr1:247067334C>T c.883G>A c.(883-885)Gaa>Aaa p.E295K COADREAD 1 247070992 247070992 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:247070992G>A c.625C>T c.(625-627)Cgc>Tgc p.R209C COADREAD 1 247071041 247071041 + Silent SNP A A G TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr1:247071041A>G c.576T>C c.(574-576)ggT>ggC p.G192G COADREAD 1 247071043 247071043 + Missense_Mutation SNP C C A TCGA-A6-6138-01A-11D-1771-10 TCGA-A6-6138-10A-01D-1771-10 g.chr1:247071043C>A c.574G>T c.(574-576)Ggt>Tgt p.G192C COADREAD 1 247071043 247071043 + Missense_Mutation SNP C C A TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr1:247071043C>A c.574G>T c.(574-576)Ggt>Tgt p.G192C COADREAD 1 247071043 247071043 + Missense_Mutation SNP C C A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr1:247071043C>A c.574G>T c.(574-576)Ggt>Tgt p.G192C COADREAD 1 247071043 247071043 + Missense_Mutation SNP C C A TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr1:247071043C>A c.574G>T c.(574-576)Ggt>Tgt p.G192C COADREAD 1 247071043 247071043 + Missense_Mutation SNP C C A TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr1:247071043C>A c.574G>T c.(574-576)Ggt>Tgt p.G192C COADREAD 1 247071043 247071043 + Missense_Mutation SNP C C T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:247071043C>T c.574G>A c.(574-576)Ggt>Agt p.G192S COADREAD 1 247076569 247076569 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:247076569T>C c.521A>G c.(520-522)gAc>gGc p.D174G COADREAD 1 247076591 247076591 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:247076591G>T c.499C>A c.(499-501)Ctt>Att p.L167I COADREAD 1 247079565 247079565 + Missense_Mutation SNP T T C TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:247079565T>C c.254A>G c.(253-255)gAa>gGa p.E85G COADREAD 1 247079629 247079629 + Nonsense_Mutation SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:247079629G>A c.190C>T c.(190-192)Cga>Tga p.R64* DLBC 1 247007232 247007232 + Splice_Site SNP T T A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr1:247007232T>A c.e34-2 DLBC 1 247013203 247013203 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:247013203G>A c.6105C>T c.(6103-6105)aaC>aaT p.N2035N DLBC 1 247013733 247013733 + Missense_Mutation SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:247013733T>C c.5575A>G c.(5575-5577)Aaa>Gaa p.K1859E DLBC 1 247051714 247051714 + Silent SNP A A G TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr1:247051714A>G c.2250T>C c.(2248-2250)taT>taC p.Y750Y ESCA 1 247013009 247013009 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr1:247013009C>T c.6299G>A c.(6298-6300)cGg>cAg p.R2100Q ESCA 1 247013637 247013637 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 g.chr1:247013637G>A c.5671C>T c.(5671-5673)Cta>Tta p.L1891L ESCA 1 247016531 247016531 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr1:247016531C>A c.4425G>T c.(4423-4425)gaG>gaT p.E1475D ESCA 1 247030980 247030980 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr1:247030980G>T c.3222C>A c.(3220-3222)agC>agA p.S1074R ESCA 1 247040319 247040319 + Missense_Mutation SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr1:247040319T>C c.2870A>G c.(2869-2871)cAc>cGc p.H957R ESCA 1 247065950 247065950 + Missense_Mutation SNP T T C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 g.chr1:247065950T>C c.994A>G c.(994-996)Acc>Gcc p.T332A ESCA 1 247076573 247076573 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr1:247076573C>G c.517G>C c.(517-519)Gat>Cat p.D173H ESCA 1 247076585 247076585 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr1:247076585C>G c.505G>C c.(505-507)Gac>Cac p.D169H ESCA 1 247076622 247076622 + Silent SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr1:247076622T>C c.468A>G c.(466-468)gcA>gcG p.A156A GBM 1 247024397 247024397 + Silent SNP G G A TCGA-06-6390-01A-11D-1696-08 TCGA-06-6390-10A-01D-1696-08 g.chr1:247024397G>A c.3936C>T c.(3934-3936)atC>atT p.I1312I GBMLGG 1 247013166 247013167 + Frame_Shift_Ins INS - - T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 g.chr1:247013166_247013167insT c.6141_6142insA c.(6139-6144)aaacttfs p.L2048fs GBMLGG 1 247013360 247013360 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:247013360G>T c.5948C>A c.(5947-5949)tCt>tAt p.S1983Y GBMLGG 1 247013610 247013610 + Missense_Mutation SNP T T C TCGA-E1-A7YV-01A-11D-A34J-08 TCGA-E1-A7YV-10A-01D-A34M-08 g.chr1:247013610T>C c.5698A>G c.(5698-5700)Agc>Ggc p.S1900G GBMLGG 1 247021040 247021040 + Silent SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr1:247021040C>T c.4209G>A c.(4207-4209)ccG>ccA p.P1403P GBMLGG 1 247024397 247024397 + Silent SNP G G A TCGA-06-6390-01A-11D-1696-08 TCGA-06-6390-10A-01D-1696-08 g.chr1:247024397G>A c.3936C>T c.(3934-3936)atC>atT p.I1312I GBMLGG 1 247030630 247030630 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:247030630G>T c.3263C>A c.(3262-3264)cCt>cAt p.P1088H GBMLGG 1 247053278 247053278 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:247053278G>A c.2134C>T c.(2134-2136)Cgt>Tgt p.R712C HNSC 1 247012940 247012940 + Missense_Mutation SNP G G A TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr1:247012940G>A c.6368C>T c.(6367-6369)tCa>tTa p.S2123L HNSC 1 247013403 247013403 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr1:247013403C>A c.5905G>T c.(5905-5907)Gcc>Tcc p.A1969S HNSC 1 247013690 247013690 + Missense_Mutation SNP C C T TCGA-CV-A463-01A-11D-A25Y-08 TCGA-CV-A463-10A-01D-A25Y-08 g.chr1:247013690C>T c.5618G>A c.(5617-5619)aGa>aAa p.R1873K HNSC 1 247014083 247014083 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr1:247014083C>G c.5225G>C c.(5224-5226)aGa>aCa p.R1742T HNSC 1 247014460 247014460 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:247014460T>C c.4848A>G c.(4846-4848)aaA>aaG p.K1616K HNSC 1 247014644 247014644 + Missense_Mutation SNP T T A TCGA-CV-6938-01A-11D-1912-08 TCGA-CV-6938-10A-01D-1912-08 g.chr1:247014644T>A c.4664A>T c.(4663-4665)tAc>tTc p.Y1555F HNSC 1 247016551 247016551 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 g.chr1:247016551C>T c.4405G>A c.(4405-4407)Gaa>Aaa p.E1469K HNSC 1 247024567 247024567 + Missense_Mutation SNP T T C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 g.chr1:247024567T>C c.3766A>G c.(3766-3768)Act>Gct p.T1256A HNSC 1 247025261 247025261 + Splice_Site SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:247025261C>A c.3735G>T c.(3733-3735)ggG>ggT p.G1245G HNSC 1 247027358 247027358 + Silent SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 g.chr1:247027358C>T c.3408G>A c.(3406-3408)caG>caA p.Q1136Q HNSC 1 247031021 247031021 + Nonsense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr1:247031021T>A c.3181A>T c.(3181-3183)Aaa>Taa p.K1061* HNSC 1 247040301 247040301 + Missense_Mutation SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chr1:247040301T>C c.2888A>G c.(2887-2889)aAt>aGt p.N963S HNSC 1 247040480 247040480 + Missense_Mutation SNP G G T TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr1:247040480G>T c.2785C>A c.(2785-2787)Cca>Aca p.P929T HNSC 1 247051786 247051786 + Silent SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr1:247051786A>G c.2178T>C c.(2176-2178)gaT>gaC p.D726D HNSC 1 247053320 247053320 + Missense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 g.chr1:247053320C>A c.2092G>T c.(2092-2094)Gta>Tta p.V698L HNSC 1 247059207 247059207 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 g.chr1:247059207T>C c.1644A>G c.(1642-1644)atA>atG p.I548M KIPAN 1 247007131 247007131 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr1:247007131delT c.6491delA c.(6490-6492)aacfs p.N2164fs KIPAN 1 247024444 247024444 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr1:247024444T>C c.3889A>G c.(3889-3891)Agt>Ggt p.S1297G KIPAN 1 247053281 247053281 + Missense_Mutation SNP C C T TCGA-GL-A59T-01A-21D-A28G-10 TCGA-GL-A59T-10A-01D-A28G-10 g.chr1:247053281C>T c.2131G>A c.(2131-2133)Gag>Aag p.E711K KIPAN 1 247061603 247061603 + Silent SNP G G T TCGA-CJ-4920-01A-01D-1429-08 TCGA-CJ-4920-11A-01D-1429-08 g.chr1:247061603G>T c.1530C>A c.(1528-1530)ctC>ctA p.L510L KIPAN 1 247063492 247063492 + Missense_Mutation SNP A A G TCGA-WN-A9G9-01A-12D-A36X-10 TCGA-WN-A9G9-10A-01D-A370-10 g.chr1:247063492A>G c.1307T>C c.(1306-1308)gTt>gCt p.V436A KIPAN 1 247070993 247070993 + Frame_Shift_Del DEL C C - TCGA-5P-A9JW-01A-11D-A42J-10 TCGA-5P-A9JW-10A-01D-A42M-10 g.chr1:247070993delC c.624delG c.(622-624)gggfs p.G208fs KIPAN 1 247070995 247070995 + Missense_Mutation SNP C C T TCGA-IZ-8196-01A-11D-2396-08 TCGA-IZ-8196-10A-01D-2396-08 g.chr1:247070995C>T c.622G>A c.(622-624)Ggg>Agg p.G208R KIPAN 1 247081550 247081560 + Splice_Site DEL TTATGTTTACC TTATGTTTACC - TCGA-2Z-A9JG-01A-11D-A42J-10 TCGA-2Z-A9JG-10A-01D-A42M-10 g.chr1:247081550_247081560delTTATGTTTACC c.113_122delGGTAAACATAA c.(112-123)tggtaaacataa>ta p.W*T*38fs KIPAN 1 247081660 247081660 + Silent SNP T T G TCGA-CZ-5985-01A-11D-1669-08 TCGA-CZ-5985-11A-01D-1669-08 g.chr1:247081660T>G c.13A>C c.(13-15)Aga>Cga p.R5R KIRC 1 247007131 247007131 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr1:247007131delT c.6491delA c.(6490-6492)aacfs p.N2164fs KIRC 1 247024444 247024444 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr1:247024444T>C c.3889A>G c.(3889-3891)Agt>Ggt p.S1297G KIRC 1 247061603 247061603 + Silent SNP G G T TCGA-CJ-4920-01A-01D-1429-08 TCGA-CJ-4920-11A-01D-1429-08 g.chr1:247061603G>T c.1530C>A c.(1528-1530)ctC>ctA p.L510L KIRC 1 247081660 247081660 + Silent SNP T T G TCGA-CZ-5985-01A-11D-1669-08 TCGA-CZ-5985-11A-01D-1669-08 g.chr1:247081660T>G c.13A>C c.(13-15)Aga>Cga p.R5R KIRP 1 247053281 247053281 + Missense_Mutation SNP C C T TCGA-GL-A59T-01A-21D-A28G-10 TCGA-GL-A59T-10A-01D-A28G-10 g.chr1:247053281C>T c.2131G>A c.(2131-2133)Gag>Aag p.E711K KIRP 1 247063492 247063492 + Missense_Mutation SNP A A G TCGA-WN-A9G9-01A-12D-A36X-10 TCGA-WN-A9G9-10A-01D-A370-10 g.chr1:247063492A>G c.1307T>C c.(1306-1308)gTt>gCt p.V436A KIRP 1 247070993 247070993 + Frame_Shift_Del DEL C C - TCGA-5P-A9JW-01A-11D-A42J-10 TCGA-5P-A9JW-10A-01D-A42M-10 g.chr1:247070993delC c.624delG c.(622-624)gggfs p.G208fs KIRP 1 247070995 247070995 + Missense_Mutation SNP C C T TCGA-IZ-8196-01A-11D-2396-08 TCGA-IZ-8196-10A-01D-2396-08 g.chr1:247070995C>T c.622G>A c.(622-624)Ggg>Agg p.G208R KIRP 1 247081550 247081560 + Splice_Site DEL TTATGTTTACC TTATGTTTACC - TCGA-2Z-A9JG-01A-11D-A42J-10 TCGA-2Z-A9JG-10A-01D-A42M-10 g.chr1:247081550_247081560delTTATGTTTACC c.113_122delGGTAAACATAA c.(112-123)tggtaaacataa>ta p.W*T*38fs LGG 1 247013166 247013167 + Frame_Shift_Ins INS - - T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 g.chr1:247013166_247013167insT c.6141_6142insA c.(6139-6144)aaacttfs p.L2048fs LGG 1 247013360 247013360 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:247013360G>T c.5948C>A c.(5947-5949)tCt>tAt p.S1983Y LGG 1 247013610 247013610 + Missense_Mutation SNP T T C TCGA-E1-A7YV-01A-11D-A34J-08 TCGA-E1-A7YV-10A-01D-A34M-08 g.chr1:247013610T>C c.5698A>G c.(5698-5700)Agc>Ggc p.S1900G LGG 1 247021040 247021040 + Silent SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr1:247021040C>T c.4209G>A c.(4207-4209)ccG>ccA p.P1403P LGG 1 247030630 247030630 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:247030630G>T c.3263C>A c.(3262-3264)cCt>cAt p.P1088H LGG 1 247053278 247053278 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:247053278G>A c.2134C>T c.(2134-2136)Cgt>Tgt p.R712C LIHC 1 247007207 247007207 + Nonsense_Mutation SNP G G A TCGA-2Y-A9H5-01A-11D-A382-10 TCGA-2Y-A9H5-10A-01D-A385-10 g.chr1:247007207G>A c.6415C>T c.(6415-6417)Cag>Tag p.Q2139* LIHC 1 247013752 247013752 + Silent SNP T T A TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr1:247013752T>A c.5556A>T c.(5554-5556)ccA>ccT p.P1852P LIHC 1 247014692 247014692 + Missense_Mutation SNP T T C TCGA-RC-A7SK-01A-11D-A34Z-10 TCGA-RC-A7SK-10A-01D-A34Z-10 g.chr1:247014692T>C c.4616A>G c.(4615-4617)aAt>aGt p.N1539S LIHC 1 247016483 247016483 + Missense_Mutation SNP T T A TCGA-DD-AACZ-01A-11D-A40R-10 TCGA-DD-AACZ-10A-01D-A40U-10 g.chr1:247016483T>A c.4473A>T c.(4471-4473)gaA>gaT p.E1491D LIHC 1 247016531 247016531 + Silent SNP C C T TCGA-2Y-A9H3-01A-11D-A382-10 TCGA-2Y-A9H3-10A-01D-A385-10 g.chr1:247016531C>T c.4425G>A c.(4423-4425)gaG>gaA p.E1475E LIHC 1 247024551 247024551 + Missense_Mutation SNP C C A TCGA-DD-A73E-01A-12D-A32G-10 TCGA-DD-A73E-10A-01D-A32G-10 g.chr1:247024551C>A c.3782G>T c.(3781-3783)tGt>tTt p.C1261F LIHC 1 247024552 247024553 + Frame_Shift_Ins INS - - T TCGA-DD-A113-01A-11D-A12Z-10 TCGA-DD-A113-10A-01D-A12Z-10 g.chr1:247024552_247024553insT c.3780_3781insA c.(3778-3783)aaatgtfs p.C1261fs LIHC 1 247024553 247024553 + Frame_Shift_Del DEL T T - TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr1:247024553delT c.3780delA c.(3778-3780)aaafs p.K1260fs LIHC 1 247024559 247024559 + Silent SNP A A C TCGA-ZP-A9D0-01A-11D-A36X-10 TCGA-ZP-A9D0-10A-01D-A370-10 g.chr1:247024559A>C c.3774T>G c.(3772-3774)ccT>ccG p.P1258P LIHC 1 247027263 247027263 + Nonsense_Mutation SNP G G T TCGA-G3-AAV0-01A-11D-A36X-10 TCGA-G3-AAV0-10A-01D-A370-10 g.chr1:247027263G>T c.3503C>A c.(3502-3504)tCa>tAa p.S1168* LIHC 1 247031037 247031037 + Silent SNP G G T TCGA-QA-A7B7-01A-11D-A32G-10 TCGA-QA-A7B7-10A-01D-A32G-10 g.chr1:247031037G>T c.3165C>A c.(3163-3165)atC>atA p.I1055I LIHC 1 247071004 247071004 + Missense_Mutation SNP T T C TCGA-DD-AAVX-01A-11D-A40R-10 TCGA-DD-AAVX-10A-01D-A40U-10 g.chr1:247071004T>C c.613A>G c.(613-615)Atg>Gtg p.M205V LUAD 1 247013024 247013024 + Missense_Mutation SNP C C T TCGA-75-7025-01A-12D-1945-08 TCGA-75-7025-10A-01D-1946-08 g.chr1:247013024C>T c.6284G>A c.(6283-6285)cGc>cAc p.R2095H LUAD 1 247013073 247013073 + Missense_Mutation SNP C C T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr1:247013073C>T c.6235G>A c.(6235-6237)Gag>Aag p.E2079K LUAD 1 247013113 247013113 + Silent SNP T T A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 g.chr1:247013113T>A c.6195A>T c.(6193-6195)tcA>tcT p.S2065S LUAD 1 247013698 247013698 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 g.chr1:247013698C>T c.5610G>A c.(5608-5610)agG>agA p.R1870R LUAD 1 247014368 247014368 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr1:247014368C>A c.4940G>T c.(4939-4941)aGt>aTt p.S1647I LUAD 1 247014369 247014369 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr1:247014369T>A c.4939A>T c.(4939-4941)Agt>Tgt p.S1647C LUAD 1 247014498 247014498 + Nonsense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chr1:247014498C>A c.4810G>T c.(4810-4812)Gag>Tag p.E1604* LUAD 1 247014516 247014516 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 g.chr1:247014516C>A c.4792G>T c.(4792-4794)Ggt>Tgt p.G1598C LUAD 1 247024416 247024416 + Missense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:247024416C>A c.3917G>T c.(3916-3918)gGa>gTa p.G1306V LUAD 1 247024452 247024452 + Missense_Mutation SNP C C A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr1:247024452C>A c.3881G>T c.(3880-3882)gGg>gTg p.G1294V LUAD 1 247025359 247025359 + Missense_Mutation SNP C C G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 g.chr1:247025359C>G c.3637G>C c.(3637-3639)Gca>Cca p.A1213P LUAD 1 247025437 247025437 + Missense_Mutation SNP T T G TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:247025437T>G c.3559A>C c.(3559-3561)Atg>Ctg p.M1187L LUAD 1 247039463 247039463 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr1:247039463C>G c.2964G>C c.(2962-2964)gaG>gaC p.E988D LUAD 1 247048798 247048798 + Missense_Mutation SNP T T C TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:247048798T>C c.2657A>G c.(2656-2658)aAt>aGt p.N886S LUAD 1 247051502 247051502 + Missense_Mutation SNP T T A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 g.chr1:247051502T>A c.2302A>T c.(2302-2304)Act>Tct p.T768S LUAD 1 247057967 247057967 + Missense_Mutation SNP T T C TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr1:247057967T>C c.1798A>G c.(1798-1800)Aga>Gga p.R600G LUAD 1 247063503 247063503 + Silent SNP T T A TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr1:247063503T>A c.1296A>T c.(1294-1296)tcA>tcT p.S432S LUAD 1 247063718 247063718 + Nonsense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:247063718C>A c.1171G>T c.(1171-1173)Gga>Tga p.G391* LUAD 1 247063772 247063772 + Splice_Site SNP C C A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr1:247063772C>A c.e9-1 LUAD 1 247063773 247063773 + Splice_Site SNP T T A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr1:247063773T>A c.e9-2 LUAD 1 247065836 247065836 + Missense_Mutation SNP C C A TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr1:247065836C>A c.1108G>T c.(1108-1110)Gtg>Ttg p.V370L LUAD 1 247065962 247065962 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr1:247065962C>T c.982G>A c.(982-984)Gaa>Aaa p.E328K LUAD 1 247068858 247068858 + Missense_Mutation SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr1:247068858T>C c.866A>G c.(865-867)cAg>cGg p.Q289R LUAD 1 247068885 247068885 + Missense_Mutation SNP C C G TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr1:247068885C>G c.839G>C c.(838-840)cGg>cCg p.R280P LUAD 1 247076619 247076619 + Silent SNP A A T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr1:247076619A>T c.471T>A c.(469-471)gcT>gcA p.A157A LUSC 1 247006029 247006029 + Missense_Mutation SNP C C A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr1:247006029C>A c.6575G>T c.(6574-6576)cGa>cTa p.R2192L LUSC 1 247013588 247013588 + Missense_Mutation SNP C C G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr1:247013588C>G c.5720G>C c.(5719-5721)aGa>aCa p.R1907T LUSC 1 247024390 247024390 + Missense_Mutation SNP C C A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr1:247024390C>A c.3943G>T c.(3943-3945)Gat>Tat p.D1315Y LUSC 1 247024468 247024468 + Missense_Mutation SNP G G C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr1:247024468G>C c.3865C>G c.(3865-3867)Caa>Gaa p.Q1289E LUSC 1 247025278 247025278 + Missense_Mutation SNP G G A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr1:247025278G>A c.3718C>T c.(3718-3720)Cca>Tca p.P1240S LUSC 1 247025290 247025290 + Missense_Mutation SNP C C G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr1:247025290C>G c.3706G>C c.(3706-3708)Gaa>Caa p.E1236Q LUSC 1 247040362 247040362 + Nonsense_Mutation SNP G G A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr1:247040362G>A c.2827C>T c.(2827-2829)Cag>Tag p.Q943* LUSC 1 247050612 247050612 + Silent SNP T T C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr1:247050612T>C c.2373A>G c.(2371-2373)acA>acG p.T791T LUSC 1 247053361 247053361 + Splice_Site SNP T T C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr1:247053361T>C c.2051A>G c.(2050-2052)gAt>gGt p.D684G LUSC 1 247076562 247076562 + Silent SNP T T C TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr1:247076562T>C c.528A>G c.(526-528)tcA>tcG p.S176S OV 1 247006065 247006065 + Missense_Mutation SNP T T G TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 g.chr1:247006065T>G c.6539A>C c.(6538-6540)cAa>cCa p.Q2180P OV 1 247014367 247014367 + Missense_Mutation SNP A A T TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 g.chr1:247014367A>T c.4941T>A c.(4939-4941)agT>agA p.S1647R OV 1 247021017 247021017 + Missense_Mutation SNP A A T TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 g.chr1:247021017A>T c.4232T>A c.(4231-4233)cTt>cAt p.L1411H OV 1 247025452 247025452 + Missense_Mutation SNP C C A TCGA-13-0886-01A-01W-0420-08 TCGA-13-0886-10A-01D-0399-08 g.chr1:247025452C>A c.3544G>T c.(3544-3546)Gct>Tct p.A1182S OV 1 247039486 247039486 + Missense_Mutation SNP C C G TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 g.chr1:247039486C>G c.2941G>C c.(2941-2943)Gat>Cat p.D981H OV 1 247071042 247071042 + Missense_Mutation SNP C C G TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 g.chr1:247071042C>G c.575G>C c.(574-576)gGt>gCt p.G192A OV 1 247079566 247079566 + Missense_Mutation SNP C C T TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 g.chr1:247079566C>T c.253G>A c.(253-255)Gaa>Aaa p.E85K PAAD 1 247013133 247013133 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:247013133G>A c.6175C>T c.(6175-6177)Cgt>Tgt p.R2059C PAAD 1 247013154 247013154 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:247013154T>C c.6154A>G c.(6154-6156)Act>Gct p.T2052A PAAD 1 247013648 247013648 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:247013648A>C c.5660T>G c.(5659-5661)aTt>aGt p.I1887S PAAD 1 247014214 247014214 + Silent SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:247014214A>C c.5094T>G c.(5092-5094)ccT>ccG p.P1698P PAAD 1 247024493 247024494 + Frame_Shift_Ins INS - - A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 g.chr1:247024493_247024494insA c.3839_3840insT c.(3838-3840)ttcfs p.F1280fs PAAD 1 247040288 247040288 + Silent SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:247040288G>T c.2901C>A c.(2899-2901)gcC>gcA p.A967A PAAD 1 247051761 247051761 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:247051761G>A c.2203C>T c.(2203-2205)Cga>Tga p.R735* PAAD 1 247081580 247081580 + Missense_Mutation SNP T T A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:247081580T>A c.93A>T c.(91-93)gaA>gaT p.E31D PCPG 1 247014132 247014132 + Missense_Mutation SNP T T C TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 g.chr1:247014132T>C c.5176A>G c.(5176-5178)Atg>Gtg p.M1726V PCPG 1 247067288 247067288 + Missense_Mutation SNP T T A TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 g.chr1:247067288T>A c.929A>T c.(928-930)aAt>aTt p.N310I PRAD 1 247014376 247014376 + Silent SNP G G C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 g.chr1:247014376G>C c.4932C>G c.(4930-4932)gcC>gcG p.A1644A READ 1 247014368 247014368 + Missense_Mutation SNP C C T TCGA-DC-6681-01A-11D-1826-10 TCGA-DC-6681-10A-01D-1826-10 g.chr1:247014368C>T c.4940G>A c.(4939-4941)aGt>aAt p.S1647N READ 1 247067334 247067334 + Splice_Site SNP C C T TCGA-AG-3902-01A-01W-1073-09 TCGA-AG-3902-10A-01W-1073-09 g.chr1:247067334C>T c.883G>A c.(883-885)Gaa>Aaa p.E295K SARC 1 247014708 247014708 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr1:247014708C>T c.4600G>A c.(4600-4602)Gga>Aga p.G1534R SARC 1 247051817 247051817 + Missense_Mutation SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 g.chr1:247051817C>T c.2147G>A c.(2146-2148)gGg>gAg p.G716E SARC 1 247063653 247063653 + Missense_Mutation SNP C C A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 g.chr1:247063653C>A c.1236G>T c.(1234-1236)atG>atT p.M412I SKCM 1 247007213 247007213 + Missense_Mutation SNP G G A TCGA-ER-A2NC-06A-11D-A197-08 TCGA-ER-A2NC-10A-01D-A199-08 g.chr1:247007213G>A c.6409C>T c.(6409-6411)Cct>Tct p.P2137S SKCM 1 247013018 247013018 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 g.chr1:247013018C>T c.6290G>A c.(6289-6291)aGc>aAc p.S2097N SKCM 1 247013051 247013051 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr1:247013051G>A c.6257C>T c.(6256-6258)gCc>gTc p.A2086V SKCM 1 247014101 247014101 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr1:247014101G>A c.5207C>T c.(5206-5208)tCc>tTc p.S1736F SKCM 1 247019110 247019111 + Frame_Shift_Del DEL AC AC - TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 g.chr1:247019110_247019111delAC c.4275_4276delGT c.(4273-4278)aagtccfs p.KS1425fs SKCM 1 247027368 247027368 + Missense_Mutation SNP T T C TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 g.chr1:247027368T>C c.3398A>G c.(3397-3399)gAg>gGg p.E1133G SKCM 1 247040307 247040307 + Missense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr1:247040307C>T c.2882G>A c.(2881-2883)cGt>cAt p.R961H SKCM 1 247040329 247040329 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 g.chr1:247040329G>A c.2860C>T c.(2860-2862)Ctt>Ttt p.L954F SKCM 1 247040330 247040330 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr1:247040330G>A c.2859C>T c.(2857-2859)ttC>ttT p.F953F SKCM 1 247051698 247051698 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr1:247051698G>A c.2266C>T c.(2266-2268)Cat>Tat p.H756Y SKCM 1 247063402 247063402 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:247063402G>A c.1397C>T c.(1396-1398)cCc>cTc p.P466L SKCM 1 247063417 247063417 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:247063417G>A c.1382C>T c.(1381-1383)cCt>cTt p.P461L SKCM 1 247063765 247063765 + Missense_Mutation SNP G G A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr1:247063765G>A c.1124C>T c.(1123-1125)tCg>tTg p.S375L SKCM 1 247065863 247065863 + Nonsense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 g.chr1:247065863G>A c.1081C>T c.(1081-1083)Cga>Tga p.R361* SKCM 1 247065863 247065863 + Nonsense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr1:247065863G>A c.1081C>T c.(1081-1083)Cga>Tga p.R361* SKCM 1 247065900 247065900 + Missense_Mutation SNP A A T TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr1:247065900A>T c.1044T>A c.(1042-1044)aaT>aaA p.N348K SKCM 1 247076605 247076605 + Missense_Mutation SNP A A G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr1:247076605A>G c.485T>C c.(484-486)gTt>gCt p.V162A SKCM 1 247079503 247079503 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr1:247079503G>A c.316C>T c.(316-318)Ctc>Ttc p.L106F SKCM 1 247081569 247081569 + Missense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr1:247081569C>T c.104G>A c.(103-105)cGt>cAt p.R35H SKCM 1 247081627 247081627 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr1:247081627G>A c.46C>T c.(46-48)Cca>Tca p.P16S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 247004150 247004150 single base substitution C T downstream_gene_variant BLCA-CN 1 247004150 247004150 single base substitution C T exon_variant BLCA-CN 1 247004150 247004150 single base substitution C T synonymous_variant L2253L 6759G>A BLCA-CN 1 247004150 247004150 single base substitution C T synonymous_variant L2262L 6786G>A BLCA-CN 1 247004150 247004150 single base substitution C T synonymous_variant L2288L 6864G>A BLCA-CN 1 247039417 247039417 single base substitution G A exon_variant BLCA-CN 1 247039417 247039417 single base substitution G A missense_variant L1004F 3010C>T BLCA-CN 1 247039417 247039417 single base substitution G A missense_variant L1013F 3037C>T BLCA-CN 1 247039417 247039417 single base substitution G A missense_variant L1039F 3115C>T BLCA-CN 1 247040270 247040270 single base substitution A G exon_variant BLCA-CN 1 247040270 247040270 single base substitution A G synonymous_variant T1008T 3024T>C BLCA-CN 1 247040270 247040270 single base substitution A G synonymous_variant T973T 2919T>C BLCA-CN 1 247040270 247040270 single base substitution A G synonymous_variant T982T 2946T>C BLCA-CN 1 247055105 247055105 single base substitution C T exon_variant BLCA-CN 1 247055105 247055105 single base substitution C T missense_variant E641K 1921G>A BLCA-CN 1 247055105 247055105 single base substitution C T missense_variant E650K 1948G>A BLCA-CN 1 247055105 247055105 single base substitution C T missense_variant E676K 2026G>A BLCA-CN 1 247063765 247063765 single base substitution G A missense_variant S375L 1124C>T BLCA-CN 1 247063765 247063765 single base substitution G A missense_variant S384L 1151C>T BLCA-CN 1 247063765 247063765 single base substitution G A missense_variant S410L 1229C>T BLCA-CN 1 247063765 247063765 single base substitution G A upstream_gene_variant BLCA-US 1 247024465 247024465 single base substitution C T downstream_gene_variant BLCA-US 1 247024465 247024465 single base substitution C T exon_variant BLCA-US 1 247024465 247024465 single base substitution C T missense_variant E1290K 3868G>A BLCA-US 1 247024465 247024465 single base substitution C T missense_variant E1299K 3895G>A BLCA-US 1 247024465 247024465 single base substitution C T missense_variant E1325K 3973G>A BLCA-US 1 247025300 247025300 single base substitution T A exon_variant BLCA-US 1 247025300 247025300 single base substitution T A synonymous_variant S1232S 3696A>T BLCA-US 1 247025300 247025300 single base substitution T A synonymous_variant S1241S 3723A>T BLCA-US 1 247025300 247025300 single base substitution T A synonymous_variant S1267S 3801A>T BLCA-US 1 247053281 247053281 single base substitution C G exon_variant BLCA-US 1 247053281 247053281 single base substitution C G missense_variant E711Q 2131G>C BLCA-US 1 247053281 247053281 single base substitution C G missense_variant E720Q 2158G>C BLCA-US 1 247053281 247053281 single base substitution C G missense_variant E746Q 2236G>C BLCA-US 1 247053295 247053295 single base substitution C T exon_variant BLCA-US 1 247053295 247053295 single base substitution C T missense_variant R706H 2117G>A BLCA-US 1 247053295 247053295 single base substitution C T missense_variant R715H 2144G>A BLCA-US 1 247053295 247053295 single base substitution C T missense_variant R741H 2222G>A BLCA-US 1 247057966 247057966 single base substitution C G exon_variant BLCA-US 1 247057966 247057966 single base substitution C G missense_variant R600T 1799G>C BLCA-US 1 247057966 247057966 single base substitution C G missense_variant R609T 1826G>C BLCA-US 1 247057966 247057966 single base substitution C G missense_variant R635T 1904G>C BOCA-FR 1 247059185 247059185 single base substitution T A exon_variant BOCA-FR 1 247059185 247059185 single base substitution T A missense_variant S556C 1666A>T BOCA-FR 1 247059185 247059185 single base substitution T A missense_variant S565C 1693A>T BOCA-FR 1 247059185 247059185 single base substitution T A missense_variant S591C 1771A>T BRCA-EU 1 246998136 246998136 single base substitution C T downstream_gene_variant BRCA-EU 1 246998621 246998621 single base substitution A G downstream_gene_variant BRCA-EU 1 247000222 247000222 single base substitution C T downstream_gene_variant BRCA-EU 1 247000663 247000663 single base substitution C T downstream_gene_variant BRCA-EU 1 247001072 247001072 single base substitution C T downstream_gene_variant BRCA-EU 1 247001389 247001389 single base substitution C A downstream_gene_variant BRCA-EU 1 247001850 247001850 single base substitution C G downstream_gene_variant BRCA-EU 1 247002118 247002118 single base substitution C G downstream_gene_variant BRCA-EU 1 247002132 247002132 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 247002535 247002535 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 247002535 247002535 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 247002535 247002535 deletion of <=200bp A - exon_variant BRCA-EU 1 247002624 247002624 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 247002624 247002624 single base substitution G A downstream_gene_variant BRCA-EU 1 247002624 247002624 single base substitution G A exon_variant BRCA-EU 1 247002939 247002939 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 247002939 247002939 single base substitution G A downstream_gene_variant BRCA-EU 1 247002939 247002939 single base substitution G A exon_variant BRCA-EU 1 247003101 247003101 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 247003101 247003101 single base substitution C T downstream_gene_variant BRCA-EU 1 247003101 247003101 single base substitution C T exon_variant BRCA-EU 1 247003311 247003311 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 247003311 247003311 single base substitution C G downstream_gene_variant BRCA-EU 1 247003311 247003311 single base substitution C G exon_variant BRCA-EU 1 247003449 247003449 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 247003449 247003449 single base substitution T C downstream_gene_variant BRCA-EU 1 247003449 247003449 single base substitution T C exon_variant BRCA-EU 1 247003959 247003959 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 247003959 247003959 single base substitution T A downstream_gene_variant BRCA-EU 1 247003959 247003959 single base substitution T A exon_variant BRCA-EU 1 247004298 247004298 single base substitution T C missense_variant N2204S 6611A>G BRCA-EU 1 247004298 247004298 single base substitution T C missense_variant N2213S 6638A>G BRCA-EU 1 247004298 247004298 single base substitution T C missense_variant N2239S 6716A>G BRCA-EU 1 247004298 247004298 single base substitution T C splice_region_variant BRCA-EU 1 247004304 247004304 deletion of <=200bp A - intron_variant BRCA-EU 1 247004822 247004822 single base substitution C G intron_variant BRCA-EU 1 247005238 247005238 single base substitution C A intron_variant BRCA-EU 1 247005457 247005457 single base substitution C T intron_variant BRCA-EU 1 247005681 247005681 single base substitution T A intron_variant BRCA-EU 1 247005929 247005929 single base substitution T G intron_variant BRCA-EU 1 247006137 247006137 single base substitution C G intron_variant BRCA-EU 1 247008814 247008814 single base substitution G A downstream_gene_variant BRCA-EU 1 247008814 247008814 single base substitution G A intron_variant BRCA-EU 1 247009403 247009403 single base substitution C G downstream_gene_variant BRCA-EU 1 247009403 247009403 single base substitution C G intron_variant BRCA-EU 1 247009494 247009494 single base substitution T G downstream_gene_variant BRCA-EU 1 247009494 247009494 single base substitution T G intron_variant BRCA-EU 1 247009638 247009638 single base substitution G C downstream_gene_variant BRCA-EU 1 247009638 247009638 single base substitution G C intron_variant BRCA-EU 1 247010324 247010324 single base substitution C G downstream_gene_variant BRCA-EU 1 247010324 247010324 single base substitution C G intron_variant BRCA-EU 1 247010935 247010935 single base substitution G A downstream_gene_variant BRCA-EU 1 247010935 247010935 single base substitution G A intron_variant BRCA-EU 1 247010995 247010995 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 247010995 247010995 deletion of <=200bp T - intron_variant BRCA-EU 1 247012650 247012650 single base substitution T A downstream_gene_variant BRCA-EU 1 247012650 247012650 single base substitution T A intron_variant BRCA-EU 1 247013814 247013814 single base substitution C T exon_variant BRCA-EU 1 247013814 247013814 single base substitution C T missense_variant E1832K 5494G>A BRCA-EU 1 247013814 247013814 single base substitution C T missense_variant E1841K 5521G>A BRCA-EU 1 247013814 247013814 single base substitution C T missense_variant E1867K 5599G>A BRCA-EU 1 247013814 247013814 single base substitution C T upstream_gene_variant BRCA-EU 1 247015236 247015236 single base substitution C G exon_variant BRCA-EU 1 247015236 247015236 single base substitution C G intron_variant BRCA-EU 1 247015236 247015236 single base substitution C G upstream_gene_variant BRCA-EU 1 247015586 247015586 single base substitution A G intron_variant BRCA-EU 1 247015586 247015586 single base substitution A G upstream_gene_variant BRCA-EU 1 247016113 247016113 single base substitution C G intron_variant BRCA-EU 1 247016113 247016113 single base substitution C G upstream_gene_variant BRCA-EU 1 247016383 247016383 deletion of <=200bp T - intron_variant BRCA-EU 1 247016383 247016383 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 247016551 247016551 single base substitution C A exon_variant BRCA-EU 1 247016551 247016551 single base substitution C A stop_gained E1469* 4405G>T BRCA-EU 1 247016551 247016551 single base substitution C A stop_gained E1478* 4432G>T BRCA-EU 1 247016551 247016551 single base substitution C A stop_gained E1504* 4510G>T BRCA-EU 1 247016551 247016551 single base substitution C A upstream_gene_variant BRCA-EU 1 247017662 247017662 single base substitution C G intron_variant BRCA-EU 1 247017662 247017662 single base substitution C G upstream_gene_variant BRCA-EU 1 247019562 247019562 single base substitution C A intron_variant BRCA-EU 1 247019618 247019618 single base substitution T C intron_variant BRCA-EU 1 247019901 247019901 single base substitution C T intron_variant BRCA-EU 1 247021170 247021170 single base substitution G A downstream_gene_variant BRCA-EU 1 247021170 247021170 single base substitution G A intron_variant BRCA-EU 1 247021565 247021565 single base substitution C A downstream_gene_variant BRCA-EU 1 247021565 247021565 single base substitution C A intron_variant BRCA-EU 1 247022394 247022394 single base substitution T A downstream_gene_variant BRCA-EU 1 247022394 247022394 single base substitution T A intron_variant BRCA-EU 1 247022945 247022945 single base substitution C T downstream_gene_variant BRCA-EU 1 247022945 247022945 single base substitution C T intron_variant BRCA-EU 1 247023557 247023557 single base substitution G C downstream_gene_variant BRCA-EU 1 247023557 247023557 single base substitution G C intron_variant BRCA-EU 1 247024005 247024005 single base substitution G A downstream_gene_variant BRCA-EU 1 247024005 247024005 single base substitution G A intron_variant BRCA-EU 1 247024878 247024878 single base substitution A C downstream_gene_variant BRCA-EU 1 247024878 247024878 single base substitution A C intron_variant BRCA-EU 1 247025446 247025446 single base substitution T A exon_variant BRCA-EU 1 247025446 247025446 single base substitution T A missense_variant S1184C 3550A>T BRCA-EU 1 247025446 247025446 single base substitution T A missense_variant S1193C 3577A>T BRCA-EU 1 247025446 247025446 single base substitution T A missense_variant S1219C 3655A>T BRCA-EU 1 247027070 247027070 single base substitution C T intron_variant BRCA-EU 1 247027143 247027143 single base substitution T C intron_variant BRCA-EU 1 247032376 247032376 single base substitution G C intron_variant BRCA-EU 1 247032376 247032376 single base substitution G C upstream_gene_variant BRCA-EU 1 247033491 247033491 single base substitution A C intron_variant BRCA-EU 1 247033987 247033987 single base substitution T C intron_variant BRCA-EU 1 247034974 247034974 single base substitution C G intron_variant BRCA-EU 1 247035012 247035012 deletion of <=200bp T - intron_variant BRCA-EU 1 247035119 247035119 single base substitution C G intron_variant BRCA-EU 1 247036681 247036681 single base substitution C T intron_variant BRCA-EU 1 247036699 247036699 single base substitution C T intron_variant BRCA-EU 1 247036875 247036875 single base substitution A G intron_variant BRCA-EU 1 247037830 247037830 single base substitution T G intron_variant BRCA-EU 1 247039788 247039788 single base substitution C G intron_variant BRCA-EU 1 247040715 247040715 single base substitution T A intron_variant BRCA-EU 1 247040715 247040715 single base substitution T A upstream_gene_variant BRCA-EU 1 247041181 247041181 single base substitution T C intron_variant BRCA-EU 1 247041181 247041181 single base substitution T C upstream_gene_variant BRCA-EU 1 247042071 247042071 single base substitution A C intron_variant BRCA-EU 1 247042071 247042071 single base substitution A C upstream_gene_variant BRCA-EU 1 247042148 247042148 single base substitution T C intron_variant BRCA-EU 1 247042148 247042148 single base substitution T C upstream_gene_variant BRCA-EU 1 247042678 247042678 single base substitution C G intron_variant BRCA-EU 1 247042678 247042678 single base substitution C G upstream_gene_variant BRCA-EU 1 247043523 247043523 single base substitution T C intron_variant BRCA-EU 1 247043523 247043523 single base substitution T C upstream_gene_variant BRCA-EU 1 247044176 247044176 single base substitution C G intron_variant BRCA-EU 1 247044176 247044176 single base substitution C G upstream_gene_variant BRCA-EU 1 247044908 247044908 single base substitution G T intron_variant BRCA-EU 1 247044908 247044908 single base substitution G T upstream_gene_variant BRCA-EU 1 247045307 247045307 single base substitution T G intron_variant BRCA-EU 1 247045307 247045307 single base substitution T G upstream_gene_variant BRCA-EU 1 247045497 247045497 single base substitution C T intron_variant BRCA-EU 1 247045602 247045602 single base substitution T C intron_variant BRCA-EU 1 247048697 247048697 single base substitution A C intron_variant BRCA-EU 1 247049212 247049212 single base substitution G T intron_variant BRCA-EU 1 247050789 247050789 single base substitution C G intron_variant BRCA-EU 1 247051200 247051200 single base substitution C G intron_variant BRCA-EU 1 247051871 247051871 single base substitution C A intron_variant BRCA-EU 1 247051871 247051871 single base substitution C G intron_variant BRCA-EU 1 247051938 247051938 single base substitution T C intron_variant BRCA-EU 1 247054210 247054210 single base substitution G T intron_variant BRCA-EU 1 247054259 247054259 single base substitution T G splice_region_variant BRCA-EU 1 247054727 247054730 deletion of <=200bp ATTT - intron_variant BRCA-EU 1 247055306 247055306 single base substitution A T intron_variant BRCA-EU 1 247055464 247055464 single base substitution C T intron_variant BRCA-EU 1 247055473 247055473 single base substitution C T intron_variant BRCA-EU 1 247058146 247058146 single base substitution C T intron_variant BRCA-EU 1 247058665 247058665 deletion of <=200bp A - intron_variant BRCA-EU 1 247059786 247059786 single base substitution G A intron_variant BRCA-EU 1 247060501 247060501 single base substitution G A intron_variant BRCA-EU 1 247061094 247061094 single base substitution G A intron_variant BRCA-EU 1 247061676 247061676 single base substitution C G intron_variant BRCA-EU 1 247062109 247062109 single base substitution G A intron_variant BRCA-EU 1 247062391 247062391 single base substitution C G intron_variant BRCA-EU 1 247063057 247063057 insertion of <=200bp - A intron_variant BRCA-EU 1 247063057 247063057 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 247063320 247063320 insertion of <=200bp - T intron_variant BRCA-EU 1 247063320 247063320 insertion of <=200bp - T upstream_gene_variant BRCA-EU 1 247063915 247063915 single base substitution T G intron_variant BRCA-EU 1 247063915 247063915 single base substitution T G upstream_gene_variant BRCA-EU 1 247064479 247064479 deletion of <=200bp A - intron_variant BRCA-EU 1 247064479 247064479 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 247065996 247065996 single base substitution G A intron_variant BRCA-EU 1 247065996 247065996 single base substitution G A upstream_gene_variant BRCA-EU 1 247066550 247066550 single base substitution C T intron_variant BRCA-EU 1 247066550 247066550 single base substitution C T upstream_gene_variant BRCA-EU 1 247066883 247066883 single base substitution G T intron_variant BRCA-EU 1 247066883 247066883 single base substitution G T upstream_gene_variant BRCA-EU 1 247067157 247067157 deletion of <=200bp G - intron_variant BRCA-EU 1 247067157 247067157 deletion of <=200bp G - upstream_gene_variant BRCA-EU 1 247067917 247067917 single base substitution T A intron_variant BRCA-EU 1 247070173 247070173 single base substitution C T intron_variant BRCA-EU 1 247071562 247071562 single base substitution T C intron_variant BRCA-EU 1 247071637 247071637 single base substitution A G intron_variant BRCA-EU 1 247071937 247071937 single base substitution C G intron_variant BRCA-EU 1 247072856 247072856 single base substitution G A intron_variant BRCA-EU 1 247073084 247073084 single base substitution G A intron_variant BRCA-EU 1 247073781 247073782 deletion of <=200bp AC - intron_variant BRCA-EU 1 247074714 247074714 single base substitution A T downstream_gene_variant BRCA-EU 1 247074714 247074714 single base substitution A T intron_variant BRCA-EU 1 247074983 247074983 single base substitution T A downstream_gene_variant BRCA-EU 1 247074983 247074983 single base substitution T A intron_variant BRCA-EU 1 247075075 247075075 single base substitution G T downstream_gene_variant BRCA-EU 1 247075075 247075075 single base substitution G T intron_variant BRCA-EU 1 247075305 247075305 single base substitution G C downstream_gene_variant BRCA-EU 1 247075305 247075305 single base substitution G C intron_variant BRCA-EU 1 247075798 247075798 single base substitution A C downstream_gene_variant BRCA-EU 1 247075798 247075798 single base substitution A C intron_variant BRCA-EU 1 247076173 247076173 single base substitution T C downstream_gene_variant BRCA-EU 1 247076173 247076173 single base substitution T C intron_variant BRCA-EU 1 247076293 247076293 single base substitution C G downstream_gene_variant BRCA-EU 1 247076293 247076293 single base substitution C G intron_variant BRCA-EU 1 247076680 247076680 single base substitution C G downstream_gene_variant BRCA-EU 1 247076680 247076680 single base substitution C G missense_variant G137A 410G>C BRCA-EU 1 247076680 247076680 single base substitution C G missense_variant G146A 437G>C BRCA-EU 1 247076680 247076680 single base substitution C G missense_variant G172A 515G>C BRCA-EU 1 247076795 247076795 single base substitution G A downstream_gene_variant BRCA-EU 1 247076795 247076795 single base substitution G A intron_variant BRCA-EU 1 247076961 247076961 single base substitution C T downstream_gene_variant BRCA-EU 1 247076961 247076961 single base substitution C T intron_variant BRCA-EU 1 247077711 247077711 single base substitution C T downstream_gene_variant BRCA-EU 1 247077711 247077711 single base substitution C T intron_variant BRCA-EU 1 247077724 247077724 single base substitution A C downstream_gene_variant BRCA-EU 1 247077724 247077724 single base substitution A C intron_variant BRCA-EU 1 247078172 247078172 single base substitution G T downstream_gene_variant BRCA-EU 1 247078172 247078172 single base substitution G T intron_variant BRCA-EU 1 247078504 247078504 single base substitution C T downstream_gene_variant BRCA-EU 1 247078504 247078504 single base substitution C T intron_variant BRCA-EU 1 247078668 247078668 single base substitution G T downstream_gene_variant BRCA-EU 1 247078668 247078668 single base substitution G T intron_variant BRCA-EU 1 247079397 247079397 single base substitution G T downstream_gene_variant BRCA-EU 1 247079397 247079397 single base substitution G T intron_variant BRCA-EU 1 247079723 247079723 single base substitution T C intron_variant BRCA-EU 1 247079813 247079813 single base substitution C G intron_variant BRCA-EU 1 247083544 247083544 single base substitution A G intron_variant BRCA-EU 1 247084461 247084461 single base substitution G A intron_variant BRCA-EU 1 247085039 247085039 single base substitution C G intron_variant BRCA-EU 1 247085562 247085562 single base substitution T C intron_variant BRCA-EU 1 247085892 247085892 single base substitution C G intron_variant BRCA-EU 1 247086833 247086833 single base substitution C G intron_variant BRCA-EU 1 247087780 247087780 single base substitution T C intron_variant BRCA-EU 1 247088306 247088306 single base substitution A T intron_variant BRCA-EU 1 247091070 247091070 single base substitution G A intron_variant BRCA-EU 1 247091864 247091864 single base substitution A G intron_variant BRCA-EU 1 247092052 247092052 single base substitution C G intron_variant BRCA-EU 1 247092094 247092094 deletion of <=200bp T - intron_variant BRCA-EU 1 247092258 247092258 single base substitution C T intron_variant BRCA-EU 1 247092952 247092952 single base substitution G C intron_variant BRCA-EU 1 247093040 247093040 single base substitution A T intron_variant BRCA-EU 1 247093410 247093410 deletion of <=200bp C - intron_variant BRCA-EU 1 247094256 247094256 single base substitution C G intron_variant BRCA-EU 1 247094644 247094644 single base substitution C G 5_prime_UTR_variant BRCA-EU 1 247094644 247094644 single base substitution C G intron_variant BRCA-EU 1 247094980 247094980 single base substitution G T 5_prime_UTR_variant BRCA-EU 1 247094980 247094980 single base substitution G T upstream_gene_variant BRCA-EU 1 247095092 247095092 single base substitution C G 5_prime_UTR_variant BRCA-EU 1 247095092 247095092 single base substitution C G upstream_gene_variant BRCA-EU 1 247096210 247096210 single base substitution C A upstream_gene_variant BRCA-EU 1 247097451 247097451 single base substitution C T upstream_gene_variant BRCA-EU 1 247098734 247098734 single base substitution C G upstream_gene_variant BRCA-EU 1 247099338 247099338 single base substitution C A upstream_gene_variant BRCA-EU 1 247099442 247099442 single base substitution C T upstream_gene_variant BRCA-EU 1 247099867 247099867 insertion of <=200bp - T upstream_gene_variant BRCA-FR 1 247005457 247005457 single base substitution C T intron_variant BRCA-FR 1 247009638 247009638 single base substitution G C downstream_gene_variant BRCA-FR 1 247009638 247009638 single base substitution G C intron_variant BRCA-FR 1 247012650 247012650 single base substitution T A downstream_gene_variant BRCA-FR 1 247012650 247012650 single base substitution T A intron_variant BRCA-FR 1 247013544 247013544 single base substitution C T exon_variant BRCA-FR 1 247013544 247013544 single base substitution C T missense_variant D1922N 5764G>A BRCA-FR 1 247013544 247013544 single base substitution C T missense_variant D1931N 5791G>A BRCA-FR 1 247013544 247013544 single base substitution C T missense_variant D1957N 5869G>A BRCA-FR 1 247013544 247013544 single base substitution C T upstream_gene_variant BRCA-FR 1 247048697 247048697 single base substitution A C intron_variant BRCA-FR 1 247051871 247051871 single base substitution C G intron_variant BRCA-FR 1 247058146 247058146 single base substitution C T intron_variant BRCA-FR 1 247059786 247059786 single base substitution G A intron_variant BRCA-FR 1 247061676 247061676 single base substitution C G intron_variant BRCA-FR 1 247071523 247071523 single base substitution G A intron_variant BRCA-FR 1 247071937 247071937 single base substitution C G intron_variant BRCA-FR 1 247076293 247076293 single base substitution C G downstream_gene_variant BRCA-FR 1 247076293 247076293 single base substitution C G intron_variant BRCA-FR 1 247085892 247085892 single base substitution C G intron_variant BRCA-UK 1 247013590 247013590 single base substitution C A exon_variant BRCA-UK 1 247013590 247013590 single base substitution C A missense_variant L1906F 5718G>T BRCA-UK 1 247013590 247013590 single base substitution C A missense_variant L1915F 5745G>T BRCA-UK 1 247013590 247013590 single base substitution C A missense_variant L1941F 5823G>T BRCA-UK 1 247013590 247013590 single base substitution C A upstream_gene_variant BRCA-UK 1 247053288 247053288 single base substitution C T exon_variant BRCA-UK 1 247053288 247053288 single base substitution C T synonymous_variant Q708Q 2124G>A BRCA-UK 1 247053288 247053288 single base substitution C T synonymous_variant Q717Q 2151G>A BRCA-UK 1 247053288 247053288 single base substitution C T synonymous_variant Q743Q 2229G>A BRCA-UK 1 247056999 247056999 single base substitution C T intron_variant BRCA-UK 1 247067282 247067282 deletion of <=200bp T - frameshift_variant K312 BRCA-UK 1 247067282 247067282 deletion of <=200bp T - frameshift_variant K321 BRCA-UK 1 247067282 247067282 deletion of <=200bp T - frameshift_variant K347 BRCA-UK 1 247067282 247067282 deletion of <=200bp T - upstream_gene_variant BRCA-UK 1 247068621 247068621 single base substitution G A intron_variant BRCA-UK 1 247087780 247087780 single base substitution T C intron_variant BRCA-US 1 247004162 247004162 single base substitution G A downstream_gene_variant BRCA-US 1 247004162 247004162 single base substitution G A exon_variant BRCA-US 1 247004162 247004162 single base substitution G A synonymous_variant N2249N 6747C>T BRCA-US 1 247004162 247004162 single base substitution G A synonymous_variant N2258N 6774C>T BRCA-US 1 247004162 247004162 single base substitution G A synonymous_variant N2284N 6852C>T BRCA-US 1 247007193 247007193 single base substitution T G exon_variant BRCA-US 1 247007193 247007193 single base substitution T G intron_variant BRCA-US 1 247007193 247007193 single base substitution T G missense_variant L2143F 6429A>C BRCA-US 1 247007193 247007193 single base substitution T G missense_variant L2152F 6456A>C BRCA-US 1 247007193 247007193 single base substitution T G missense_variant L2178F 6534A>C BRCA-US 1 247012977 247012977 single base substitution A T downstream_gene_variant BRCA-US 1 247012977 247012977 single base substitution A T exon_variant BRCA-US 1 247012977 247012977 single base substitution A T missense_variant S2111T 6331T>A BRCA-US 1 247012977 247012977 single base substitution A T missense_variant S2120T 6358T>A BRCA-US 1 247012977 247012977 single base substitution A T missense_variant S2146T 6436T>A BRCA-US 1 247013112 247013112 single base substitution C G downstream_gene_variant BRCA-US 1 247013112 247013112 single base substitution C G exon_variant BRCA-US 1 247013112 247013112 single base substitution C G missense_variant E2066Q 6196G>C BRCA-US 1 247013112 247013112 single base substitution C G missense_variant E2075Q 6223G>C BRCA-US 1 247013112 247013112 single base substitution C G missense_variant E2101Q 6301G>C BRCA-US 1 247014111 247014111 single base substitution C A exon_variant BRCA-US 1 247014111 247014111 single base substitution C A missense_variant D1733Y 5197G>T BRCA-US 1 247014111 247014111 single base substitution C A missense_variant D1742Y 5224G>T BRCA-US 1 247014111 247014111 single base substitution C A missense_variant D1768Y 5302G>T BRCA-US 1 247014111 247014111 single base substitution C A upstream_gene_variant BRCA-US 1 247014469 247014469 single base substitution C G exon_variant BRCA-US 1 247014469 247014469 single base substitution C G synonymous_variant V1613V 4839G>C BRCA-US 1 247014469 247014469 single base substitution C G synonymous_variant V1622V 4866G>C BRCA-US 1 247014469 247014469 single base substitution C G synonymous_variant V1648V 4944G>C BRCA-US 1 247014469 247014469 single base substitution C G upstream_gene_variant BRCA-US 1 247016578 247016578 single base substitution C T exon_variant BRCA-US 1 247016578 247016578 single base substitution C T missense_variant G1460S 4378G>A BRCA-US 1 247016578 247016578 single base substitution C T missense_variant G1469S 4405G>A BRCA-US 1 247016578 247016578 single base substitution C T missense_variant G1495S 4483G>A BRCA-US 1 247016578 247016578 single base substitution C T upstream_gene_variant BRCA-US 1 247024358 247024358 single base substitution C T downstream_gene_variant BRCA-US 1 247024358 247024358 single base substitution C T exon_variant BRCA-US 1 247024358 247024358 single base substitution C T synonymous_variant P1325P 3975G>A BRCA-US 1 247024358 247024358 single base substitution C T synonymous_variant P1334P 4002G>A BRCA-US 1 247024358 247024358 single base substitution C T synonymous_variant P1360P 4080G>A BRCA-US 1 247024360 247024360 single base substitution G C downstream_gene_variant BRCA-US 1 247024360 247024360 single base substitution G C exon_variant BRCA-US 1 247024360 247024360 single base substitution G C missense_variant P1325A 3973C>G BRCA-US 1 247024360 247024360 single base substitution G C missense_variant P1334A 4000C>G BRCA-US 1 247024360 247024360 single base substitution G C missense_variant P1360A 4078C>G BRCA-US 1 247025377 247025377 single base substitution G C exon_variant BRCA-US 1 247025377 247025377 single base substitution G C missense_variant L1207V 3619C>G BRCA-US 1 247025377 247025377 single base substitution G C missense_variant L1216V 3646C>G BRCA-US 1 247025377 247025377 single base substitution G C missense_variant L1242V 3724C>G BRCA-US 1 247027259 247027259 single base substitution T C exon_variant BRCA-US 1 247027259 247027259 single base substitution T C synonymous_variant E1169E 3507A>G BRCA-US 1 247027259 247027259 single base substitution T C synonymous_variant E1178E 3534A>G BRCA-US 1 247027259 247027259 single base substitution T C synonymous_variant E1204E 3612A>G BRCA-US 1 247030635 247030635 single base substitution T C exon_variant BRCA-US 1 247030635 247030635 single base substitution T C synonymous_variant P1086P 3258A>G BRCA-US 1 247030635 247030635 single base substitution T C synonymous_variant P1095P 3285A>G BRCA-US 1 247030635 247030635 single base substitution T C synonymous_variant P1121P 3363A>G BRCA-US 1 247030635 247030635 single base substitution T C upstream_gene_variant BRCA-US 1 247031055 247031055 single base substitution C T exon_variant BRCA-US 1 247031055 247031055 single base substitution C T synonymous_variant L1049L 3147G>A BRCA-US 1 247031055 247031055 single base substitution C T synonymous_variant L1058L 3174G>A BRCA-US 1 247031055 247031055 single base substitution C T synonymous_variant L1084L 3252G>A BRCA-US 1 247031055 247031055 single base substitution C T upstream_gene_variant BRCA-US 1 247039420 247039420 deletion of <=200bp T - exon_variant BRCA-US 1 247039420 247039420 deletion of <=200bp T - frameshift_variant I1003 BRCA-US 1 247039420 247039420 deletion of <=200bp T - frameshift_variant I1012 BRCA-US 1 247039420 247039420 deletion of <=200bp T - frameshift_variant I1038 BRCA-US 1 247040513 247040513 single base substitution C A exon_variant BRCA-US 1 247040513 247040513 single base substitution C A stop_gained E918* 2752G>T BRCA-US 1 247040513 247040513 single base substitution C A stop_gained E927* 2779G>T BRCA-US 1 247040513 247040513 single base substitution C A stop_gained E953* 2857G>T BRCA-US 1 247040513 247040513 single base substitution C A upstream_gene_variant BRCA-US 1 247050544 247050544 single base substitution C G exon_variant BRCA-US 1 247050544 247050544 single base substitution C G missense_variant G814A 2441G>C BRCA-US 1 247050544 247050544 single base substitution C G missense_variant G823A 2468G>C BRCA-US 1 247050544 247050544 single base substitution C G missense_variant G849A 2546G>C BRCA-US 1 247053342 247053342 single base substitution T C exon_variant BRCA-US 1 247053342 247053342 single base substitution T C synonymous_variant S690S 2070A>G BRCA-US 1 247053342 247053342 single base substitution T C synonymous_variant S699S 2097A>G BRCA-US 1 247053342 247053342 single base substitution T C synonymous_variant S725S 2175A>G BRCA-US 1 247059157 247059157 single base substitution A C exon_variant BRCA-US 1 247059157 247059157 single base substitution A C missense_variant I565S 1694T>G BRCA-US 1 247059157 247059157 single base substitution A C missense_variant I574S 1721T>G BRCA-US 1 247059157 247059157 single base substitution A C missense_variant I600S 1799T>G BRCA-US 1 247063726 247063726 single base substitution T G missense_variant N388T 1163A>C BRCA-US 1 247063726 247063726 single base substitution T G missense_variant N397T 1190A>C BRCA-US 1 247063726 247063726 single base substitution T G missense_variant N423T 1268A>C BRCA-US 1 247063726 247063726 single base substitution T G upstream_gene_variant BRCA-US 1 247067282 247067282 single base substitution T A missense_variant K312M 935A>T BRCA-US 1 247067282 247067282 single base substitution T A missense_variant K321M 962A>T BRCA-US 1 247067282 247067282 single base substitution T A missense_variant K347M 1040A>T BRCA-US 1 247067282 247067282 single base substitution T A upstream_gene_variant BRCA-US 1 247067320 247067320 single base substitution C G missense_variant L299F 897G>C BRCA-US 1 247067320 247067320 single base substitution C G missense_variant L308F 924G>C BRCA-US 1 247067320 247067320 single base substitution C G missense_variant L334F 1002G>C BRCA-US 1 247067320 247067320 single base substitution C G upstream_gene_variant BRCA-US 1 247076641 247076641 single base substitution C T downstream_gene_variant BRCA-US 1 247076641 247076641 single base substitution C T missense_variant R150Q 449G>A BRCA-US 1 247076641 247076641 single base substitution C T missense_variant R159Q 476G>A BRCA-US 1 247076641 247076641 single base substitution C T missense_variant R185Q 554G>A BRCA-US 1 247079596 247079596 single base substitution C A downstream_gene_variant BRCA-US 1 247079596 247079596 single base substitution C A stop_gained E110* 328G>T BRCA-US 1 247079596 247079596 single base substitution C A stop_gained E75* 223G>T BRCA-US 1 247079596 247079596 single base substitution C A stop_gained E84* 250G>T BTCA-JP 1 247004221 247004221 single base substitution C T downstream_gene_variant BTCA-JP 1 247004221 247004221 single base substitution C T exon_variant BTCA-JP 1 247004221 247004221 single base substitution C T missense_variant G2230R 6688G>A BTCA-JP 1 247004221 247004221 single base substitution C T missense_variant G2239R 6715G>A BTCA-JP 1 247004221 247004221 single base substitution C T missense_variant G2265R 6793G>A BTCA-JP 1 247004304 247004304 deletion of <=200bp A - intron_variant BTCA-JP 1 247021280 247021280 single base substitution G T downstream_gene_variant BTCA-JP 1 247021280 247021280 single base substitution G T intron_variant BTCA-JP 1 247025419 247025419 single base substitution C T exon_variant BTCA-JP 1 247025419 247025419 single base substitution C T missense_variant G1193R 3577G>A BTCA-JP 1 247025419 247025419 single base substitution C T missense_variant G1202R 3604G>A BTCA-JP 1 247025419 247025419 single base substitution C T missense_variant G1228R 3682G>A BTCA-JP 1 247027156 247027156 single base substitution T C intron_variant BTCA-JP 1 247031203 247031203 single base substitution C A intron_variant BTCA-JP 1 247031203 247031203 single base substitution C A upstream_gene_variant BTCA-JP 1 247051359 247051359 single base substitution C T intron_variant BTCA-JP 1 247062824 247062824 single base substitution A T intron_variant BTCA-JP 1 247062824 247062824 single base substitution A T upstream_gene_variant BTCA-JP 1 247069078 247069078 single base substitution C T intron_variant BTCA-JP 1 247070853 247070853 single base substitution T C missense_variant E255G 764A>G BTCA-JP 1 247070853 247070853 single base substitution T C missense_variant E264G 791A>G BTCA-JP 1 247070853 247070853 single base substitution T C missense_variant E290G 869A>G BTCA-JP 1 247079744 247079744 single base substitution A C intron_variant CESC-US 1 247002960 247002960 single base substitution C T 3_prime_UTR_variant CESC-US 1 247002960 247002960 single base substitution C T downstream_gene_variant CESC-US 1 247002960 247002960 single base substitution C T exon_variant CESC-US 1 247003181 247003181 single base substitution C T 3_prime_UTR_variant CESC-US 1 247003181 247003181 single base substitution C T downstream_gene_variant CESC-US 1 247003181 247003181 single base substitution C T exon_variant CESC-US 1 247013291 247013291 single base substitution C G exon_variant CESC-US 1 247013291 247013291 single base substitution C G missense_variant R2006T 6017G>C CESC-US 1 247013291 247013291 single base substitution C G missense_variant R2015T 6044G>C CESC-US 1 247013291 247013291 single base substitution C G missense_variant R2041T 6122G>C CESC-US 1 247013291 247013291 single base substitution C G upstream_gene_variant CESC-US 1 247016504 247016504 single base substitution C T exon_variant CESC-US 1 247016504 247016504 single base substitution C T synonymous_variant L1484L 4452G>A CESC-US 1 247016504 247016504 single base substitution C T synonymous_variant L1493L 4479G>A CESC-US 1 247016504 247016504 single base substitution C T synonymous_variant L1519L 4557G>A CESC-US 1 247016504 247016504 single base substitution C T upstream_gene_variant CESC-US 1 247024261 247024261 single base substitution C G downstream_gene_variant CESC-US 1 247024261 247024261 single base substitution C G exon_variant CESC-US 1 247024261 247024261 single base substitution C G missense_variant D1358H 4072G>C CESC-US 1 247024261 247024261 single base substitution C G missense_variant D1367H 4099G>C CESC-US 1 247024261 247024261 single base substitution C G missense_variant D1393H 4177G>C CESC-US 1 247024352 247024352 single base substitution C T downstream_gene_variant CESC-US 1 247024352 247024352 single base substitution C T exon_variant CESC-US 1 247024352 247024352 single base substitution C T synonymous_variant P1327P 3981G>A CESC-US 1 247024352 247024352 single base substitution C T synonymous_variant P1336P 4008G>A CESC-US 1 247024352 247024352 single base substitution C T synonymous_variant P1362P 4086G>A CESC-US 1 247028619 247028619 single base substitution G T exon_variant CESC-US 1 247028619 247028619 single base substitution G T intron_variant CESC-US 1 247028619 247028619 single base substitution G T upstream_gene_variant CESC-US 1 247031024 247031024 single base substitution A G exon_variant CESC-US 1 247031024 247031024 single base substitution A G missense_variant S1060P 3178T>C CESC-US 1 247031024 247031024 single base substitution A G missense_variant S1069P 3205T>C CESC-US 1 247031024 247031024 single base substitution A G missense_variant S1095P 3283T>C CESC-US 1 247031024 247031024 single base substitution A G upstream_gene_variant CESC-US 1 247061639 247061639 single base substitution C T splice_acceptor_variant CESC-US 1 247063409 247063409 single base substitution G C missense_variant P464A 1390C>G CESC-US 1 247063409 247063409 single base substitution G C missense_variant P473A 1417C>G CESC-US 1 247063409 247063409 single base substitution G C missense_variant P499A 1495C>G CESC-US 1 247063409 247063409 single base substitution G C upstream_gene_variant CESC-US 1 247063499 247063499 single base substitution C G missense_variant E434Q 1300G>C CESC-US 1 247063499 247063499 single base substitution C G missense_variant E443Q 1327G>C CESC-US 1 247063499 247063499 single base substitution C G missense_variant E469Q 1405G>C CESC-US 1 247063499 247063499 single base substitution C G upstream_gene_variant CESC-US 1 247065857 247065857 single base substitution G A missense_variant H363Y 1087C>T CESC-US 1 247065857 247065857 single base substitution G A missense_variant H372Y 1114C>T CESC-US 1 247065857 247065857 single base substitution G A missense_variant H398Y 1192C>T CESC-US 1 247065857 247065857 single base substitution G A upstream_gene_variant CESC-US 1 247067298 247067298 single base substitution C T missense_variant A307T 919G>A CESC-US 1 247067298 247067298 single base substitution C T missense_variant A316T 946G>A CESC-US 1 247067298 247067298 single base substitution C T missense_variant A342T 1024G>A CESC-US 1 247067298 247067298 single base substitution C T upstream_gene_variant CESC-US 1 247079513 247079513 insertion of <=200bp - A downstream_gene_variant CESC-US 1 247079513 247079513 insertion of <=200bp - A frameshift_variant E102E? CESC-US 1 247079513 247079513 insertion of <=200bp - A frameshift_variant E111E? CESC-US 1 247079513 247079513 insertion of <=200bp - A frameshift_variant E137E? CLLE-ES 1 246998372 246998372 single base substitution T C downstream_gene_variant CLLE-ES 1 246998661 246998661 deletion of <=200bp C - downstream_gene_variant CLLE-ES 1 247006746 247006746 single base substitution A G intron_variant CLLE-ES 1 247016017 247016017 single base substitution C T intron_variant CLLE-ES 1 247016017 247016017 single base substitution C T upstream_gene_variant CLLE-ES 1 247024273 247024273 deletion of <=200bp G - downstream_gene_variant CLLE-ES 1 247024273 247024273 deletion of <=200bp G - exon_variant CLLE-ES 1 247024273 247024273 deletion of <=200bp G - frameshift_variant Q1354 CLLE-ES 1 247024273 247024273 deletion of <=200bp G - frameshift_variant Q1363 CLLE-ES 1 247024273 247024273 deletion of <=200bp G - frameshift_variant Q1389 CLLE-ES 1 247046735 247046735 single base substitution A G intron_variant CLLE-ES 1 247073016 247073016 single base substitution T C intron_variant COAD-US 1 247012943 247012943 single base substitution G A downstream_gene_variant COAD-US 1 247012943 247012943 single base substitution G A exon_variant COAD-US 1 247012943 247012943 single base substitution G A missense_variant A2122V 6365C>T COAD-US 1 247012943 247012943 single base substitution G A missense_variant A2131V 6392C>T COAD-US 1 247012943 247012943 single base substitution G A missense_variant A2157V 6470C>T COAD-US 1 247014452 247014452 single base substitution T C exon_variant COAD-US 1 247014452 247014452 single base substitution T C missense_variant N1619S 4856A>G COAD-US 1 247014452 247014452 single base substitution T C missense_variant N1628S 4883A>G COAD-US 1 247014452 247014452 single base substitution T C missense_variant N1654S 4961A>G COAD-US 1 247014452 247014452 single base substitution T C upstream_gene_variant COAD-US 1 247024326 247024326 single base substitution G A downstream_gene_variant COAD-US 1 247024326 247024326 single base substitution G A exon_variant COAD-US 1 247024326 247024326 single base substitution G A missense_variant T1336M 4007C>T COAD-US 1 247024326 247024326 single base substitution G A missense_variant T1345M 4034C>T COAD-US 1 247024326 247024326 single base substitution G A missense_variant T1371M 4112C>T COAD-US 1 247025323 247025323 single base substitution G A exon_variant COAD-US 1 247025323 247025323 single base substitution G A stop_gained R1225* 3673C>T COAD-US 1 247025323 247025323 single base substitution G A stop_gained R1234* 3700C>T COAD-US 1 247025323 247025323 single base substitution G A stop_gained R1260* 3778C>T COAD-US 1 247040541 247040541 single base substitution T C exon_variant COAD-US 1 247040541 247040541 single base substitution T C synonymous_variant L908L 2724A>G COAD-US 1 247040541 247040541 single base substitution T C synonymous_variant L917L 2751A>G COAD-US 1 247040541 247040541 single base substitution T C synonymous_variant L943L 2829A>G COAD-US 1 247040541 247040541 single base substitution T C upstream_gene_variant COAD-US 1 247048814 247048814 single base substitution T C exon_variant COAD-US 1 247048814 247048814 single base substitution T C missense_variant T881A 2641A>G COAD-US 1 247048814 247048814 single base substitution T C missense_variant T890A 2668A>G COAD-US 1 247048814 247048814 single base substitution T C missense_variant T916A 2746A>G COAD-US 1 247048834 247048834 single base substitution T C exon_variant COAD-US 1 247048834 247048834 single base substitution T C missense_variant N874S 2621A>G COAD-US 1 247048834 247048834 single base substitution T C missense_variant N883S 2648A>G COAD-US 1 247048834 247048834 single base substitution T C missense_variant N909S 2726A>G COAD-US 1 247076569 247076569 single base substitution T C downstream_gene_variant COAD-US 1 247076569 247076569 single base substitution T C missense_variant D174G 521A>G COAD-US 1 247076569 247076569 single base substitution T C missense_variant D183G 548A>G COAD-US 1 247076569 247076569 single base substitution T C missense_variant D209G 626A>G COAD-US 1 247076591 247076591 single base substitution G T downstream_gene_variant COAD-US 1 247076591 247076591 single base substitution G T missense_variant L167I 499C>A COAD-US 1 247076591 247076591 single base substitution G T missense_variant L176I 526C>A COAD-US 1 247076591 247076591 single base substitution G T missense_variant L202I 604C>A COCA-CN 1 247004244 247004244 single base substitution G A downstream_gene_variant COCA-CN 1 247004244 247004244 single base substitution G A exon_variant COCA-CN 1 247004244 247004244 single base substitution G A missense_variant S2222F 6665C>T COCA-CN 1 247004244 247004244 single base substitution G A missense_variant S2231F 6692C>T COCA-CN 1 247004244 247004244 single base substitution G A missense_variant S2257F 6770C>T COCA-CN 1 247004254 247004254 single base substitution G A downstream_gene_variant COCA-CN 1 247004254 247004254 single base substitution G A exon_variant COCA-CN 1 247004254 247004254 single base substitution G A missense_variant R2219W 6655C>T COCA-CN 1 247004254 247004254 single base substitution G A missense_variant R2228W 6682C>T COCA-CN 1 247004254 247004254 single base substitution G A missense_variant R2254W 6760C>T COCA-CN 1 247006118 247006118 single base substitution G A intron_variant COCA-CN 1 247007014 247007018 deletion of <=200bp AAATA - intron_variant COCA-CN 1 247007278 247007278 single base substitution A G intron_variant COCA-CN 1 247012834 247012834 single base substitution A C downstream_gene_variant COCA-CN 1 247012834 247012834 single base substitution A C intron_variant COCA-CN 1 247014110 247014110 single base substitution T C exon_variant COCA-CN 1 247014110 247014110 single base substitution T C missense_variant D1733G 5198A>G COCA-CN 1 247014110 247014110 single base substitution T C missense_variant D1742G 5225A>G COCA-CN 1 247014110 247014110 single base substitution T C missense_variant D1768G 5303A>G COCA-CN 1 247014110 247014110 single base substitution T C upstream_gene_variant COCA-CN 1 247014342 247014342 single base substitution T C exon_variant COCA-CN 1 247014342 247014342 single base substitution T C missense_variant T1656A 4966A>G COCA-CN 1 247014342 247014342 single base substitution T C missense_variant T1665A 4993A>G COCA-CN 1 247014342 247014342 single base substitution T C missense_variant T1691A 5071A>G COCA-CN 1 247014342 247014342 single base substitution T C upstream_gene_variant COCA-CN 1 247019046 247019046 single base substitution G A exon_variant COCA-CN 1 247019046 247019046 single base substitution G A missense_variant A1447V 4340C>T COCA-CN 1 247019046 247019046 single base substitution G A missense_variant A1456V 4367C>T COCA-CN 1 247019046 247019046 single base substitution G A missense_variant A1482V 4445C>T COCA-CN 1 247019216 247019216 single base substitution T C intron_variant COCA-CN 1 247021212 247021212 single base substitution C T downstream_gene_variant COCA-CN 1 247021212 247021212 single base substitution C T intron_variant COCA-CN 1 247031157 247031157 single base substitution C T intron_variant COCA-CN 1 247031157 247031157 single base substitution C T upstream_gene_variant COCA-CN 1 247055209 247055209 single base substitution A C exon_variant COCA-CN 1 247055209 247055209 single base substitution A C missense_variant F606C 1817T>G COCA-CN 1 247055209 247055209 single base substitution A C missense_variant F615C 1844T>G COCA-CN 1 247055209 247055209 single base substitution A C missense_variant F641C 1922T>G COCA-CN 1 247063900 247063900 single base substitution C T intron_variant COCA-CN 1 247063900 247063900 single base substitution C T upstream_gene_variant COCA-CN 1 247065866 247065866 single base substitution A T missense_variant F360I 1078T>A COCA-CN 1 247065866 247065866 single base substitution A T missense_variant F369I 1105T>A COCA-CN 1 247065866 247065866 single base substitution A T missense_variant F395I 1183T>A COCA-CN 1 247065866 247065866 single base substitution A T upstream_gene_variant COCA-CN 1 247065929 247065929 single base substitution T C missense_variant M339V 1015A>G COCA-CN 1 247065929 247065929 single base substitution T C missense_variant M348V 1042A>G COCA-CN 1 247065929 247065929 single base substitution T C missense_variant M374V 1120A>G COCA-CN 1 247065929 247065929 single base substitution T C upstream_gene_variant COCA-CN 1 247067157 247067157 single base substitution G A intron_variant COCA-CN 1 247067157 247067157 single base substitution G A upstream_gene_variant COCA-CN 1 247067278 247067278 single base substitution A G synonymous_variant C313C 939T>C COCA-CN 1 247067278 247067278 single base substitution A G synonymous_variant C322C 966T>C COCA-CN 1 247067278 247067278 single base substitution A G synonymous_variant C348C 1044T>C COCA-CN 1 247067278 247067278 single base substitution A G upstream_gene_variant COCA-CN 1 247091707 247091707 single base substitution G A intron_variant COCA-CN 1 247094350 247094350 single base substitution T C intron_variant COCA-CN 1 247094515 247094515 single base substitution G A intron_variant COCA-CN 1 247094515 247094515 single base substitution G A missense_variant A5V 14C>T ESAD-UK 1 247000764 247000764 single base substitution A G downstream_gene_variant ESAD-UK 1 247000815 247000815 single base substitution C G downstream_gene_variant ESAD-UK 1 247002335 247002335 single base substitution T C downstream_gene_variant ESAD-UK 1 247003631 247003631 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 1 247003631 247003631 insertion of <=200bp - A downstream_gene_variant ESAD-UK 1 247003631 247003631 insertion of <=200bp - A exon_variant ESAD-UK 1 247004361 247004361 single base substitution C T intron_variant ESAD-UK 1 247006564 247006564 single base substitution T G intron_variant ESAD-UK 1 247007045 247007045 single base substitution A T intron_variant ESAD-UK 1 247007648 247007648 single base substitution T G intron_variant ESAD-UK 1 247008546 247008546 single base substitution T C downstream_gene_variant ESAD-UK 1 247008546 247008546 single base substitution T C intron_variant ESAD-UK 1 247009281 247009281 single base substitution G A downstream_gene_variant ESAD-UK 1 247009281 247009281 single base substitution G A intron_variant ESAD-UK 1 247011091 247011091 single base substitution T A downstream_gene_variant ESAD-UK 1 247011091 247011091 single base substitution T A intron_variant ESAD-UK 1 247015796 247015796 single base substitution T A intron_variant ESAD-UK 1 247015796 247015796 single base substitution T A upstream_gene_variant ESAD-UK 1 247018415 247018415 single base substitution G A intron_variant ESAD-UK 1 247018580 247018580 single base substitution C T intron_variant ESAD-UK 1 247021879 247021879 single base substitution C G downstream_gene_variant ESAD-UK 1 247021879 247021879 single base substitution C G intron_variant ESAD-UK 1 247022912 247022912 single base substitution C T downstream_gene_variant ESAD-UK 1 247022912 247022912 single base substitution C T intron_variant ESAD-UK 1 247025642 247025642 single base substitution C T intron_variant ESAD-UK 1 247026215 247026215 single base substitution A C intron_variant ESAD-UK 1 247027125 247027125 single base substitution C G intron_variant ESAD-UK 1 247029692 247029692 single base substitution C G intron_variant ESAD-UK 1 247029692 247029692 single base substitution C G upstream_gene_variant ESAD-UK 1 247030348 247030348 single base substitution T A intron_variant ESAD-UK 1 247030348 247030348 single base substitution T A upstream_gene_variant ESAD-UK 1 247030974 247030974 single base substitution T C exon_variant ESAD-UK 1 247030974 247030974 single base substitution T C synonymous_variant T1076T 3228A>G ESAD-UK 1 247030974 247030974 single base substitution T C synonymous_variant T1085T 3255A>G ESAD-UK 1 247030974 247030974 single base substitution T C synonymous_variant T1111T 3333A>G ESAD-UK 1 247030974 247030974 single base substitution T C upstream_gene_variant ESAD-UK 1 247032764 247032764 single base substitution C T intron_variant ESAD-UK 1 247037140 247037140 single base substitution G A intron_variant ESAD-UK 1 247040422 247040422 single base substitution C G intron_variant ESAD-UK 1 247040422 247040422 single base substitution C G upstream_gene_variant ESAD-UK 1 247041267 247041267 single base substitution C T intron_variant ESAD-UK 1 247041267 247041267 single base substitution C T upstream_gene_variant ESAD-UK 1 247041743 247041743 single base substitution A C intron_variant ESAD-UK 1 247041743 247041743 single base substitution A C upstream_gene_variant ESAD-UK 1 247042436 247042436 single base substitution A G intron_variant ESAD-UK 1 247042436 247042436 single base substitution A G upstream_gene_variant ESAD-UK 1 247046059 247046059 single base substitution G A intron_variant ESAD-UK 1 247046493 247046493 single base substitution A T intron_variant ESAD-UK 1 247055869 247055869 single base substitution C T intron_variant ESAD-UK 1 247055999 247055999 single base substitution T C intron_variant ESAD-UK 1 247057124 247057124 single base substitution C G intron_variant ESAD-UK 1 247059547 247059547 single base substitution C T intron_variant ESAD-UK 1 247063622 247063622 single base substitution A G intron_variant ESAD-UK 1 247063622 247063622 single base substitution A G upstream_gene_variant ESAD-UK 1 247064142 247064142 single base substitution C T intron_variant ESAD-UK 1 247064142 247064142 single base substitution C T upstream_gene_variant ESAD-UK 1 247064709 247064709 single base substitution C T intron_variant ESAD-UK 1 247064709 247064709 single base substitution C T upstream_gene_variant ESAD-UK 1 247064850 247064850 single base substitution C T intron_variant ESAD-UK 1 247064850 247064850 single base substitution C T upstream_gene_variant ESAD-UK 1 247064851 247064851 single base substitution C T intron_variant ESAD-UK 1 247064851 247064851 single base substitution C T upstream_gene_variant ESAD-UK 1 247067810 247067810 single base substitution C G intron_variant ESAD-UK 1 247068178 247068178 single base substitution T C intron_variant ESAD-UK 1 247070165 247070165 deletion of <=200bp T - intron_variant ESAD-UK 1 247070311 247070311 single base substitution G C intron_variant ESAD-UK 1 247070663 247070663 single base substitution G A intron_variant ESAD-UK 1 247071283 247071283 single base substitution T C intron_variant ESAD-UK 1 247071988 247071988 single base substitution G C intron_variant ESAD-UK 1 247072327 247072327 single base substitution A C intron_variant ESAD-UK 1 247072803 247072803 single base substitution C G intron_variant ESAD-UK 1 247073581 247073581 single base substitution T A intron_variant ESAD-UK 1 247075626 247075626 single base substitution A T downstream_gene_variant ESAD-UK 1 247075626 247075626 single base substitution A T intron_variant ESAD-UK 1 247079035 247079035 single base substitution T G downstream_gene_variant ESAD-UK 1 247079035 247079035 single base substitution T G intron_variant ESAD-UK 1 247079451 247079451 single base substitution G A downstream_gene_variant ESAD-UK 1 247079451 247079451 single base substitution G A missense_variant P123L 368C>T ESAD-UK 1 247079451 247079451 single base substitution G A missense_variant P132L 395C>T ESAD-UK 1 247079451 247079451 single base substitution G A missense_variant P158L 473C>T ESAD-UK 1 247080002 247080002 single base substitution T A intron_variant ESAD-UK 1 247081967 247081967 single base substitution C T intron_variant ESAD-UK 1 247082803 247082803 single base substitution T G intron_variant ESAD-UK 1 247084228 247084228 single base substitution T A intron_variant ESAD-UK 1 247086496 247086496 single base substitution C T intron_variant ESAD-UK 1 247087239 247087239 single base substitution C T intron_variant ESAD-UK 1 247087980 247087980 single base substitution C T intron_variant ESAD-UK 1 247091034 247091034 single base substitution C T intron_variant ESAD-UK 1 247092094 247092094 deletion of <=200bp T - intron_variant ESAD-UK 1 247092388 247092388 single base substitution C T intron_variant ESAD-UK 1 247093644 247093644 single base substitution T C intron_variant ESAD-UK 1 247095203 247095203 single base substitution C A 5_prime_UTR_variant ESAD-UK 1 247095203 247095203 single base substitution C A upstream_gene_variant ESAD-UK 1 247095323 247095323 single base substitution G A upstream_gene_variant ESAD-UK 1 247095465 247095465 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 247096829 247096829 single base substitution G A upstream_gene_variant ESAD-UK 1 247098520 247098520 single base substitution G A upstream_gene_variant ESCA-CN 1 247006079 247006079 single base substitution C T intron_variant ESCA-CN 1 247006079 247006079 single base substitution C T splice_acceptor_variant ESCA-CN 1 247007043 247007043 deletion of <=200bp A - intron_variant ESCA-CN 1 247007044 247007044 single base substitution A T intron_variant ESCA-CN 1 247013310 247013310 single base substitution T C exon_variant ESCA-CN 1 247013310 247013310 single base substitution T C missense_variant K2000E 5998A>G ESCA-CN 1 247013310 247013310 single base substitution T C missense_variant K2009E 6025A>G ESCA-CN 1 247013310 247013310 single base substitution T C missense_variant K2035E 6103A>G ESCA-CN 1 247013310 247013310 single base substitution T C upstream_gene_variant ESCA-CN 1 247016561 247016561 single base substitution G A exon_variant ESCA-CN 1 247016561 247016561 single base substitution G A synonymous_variant L1465L 4395C>T ESCA-CN 1 247016561 247016561 single base substitution G A synonymous_variant L1474L 4422C>T ESCA-CN 1 247016561 247016561 single base substitution G A synonymous_variant L1500L 4500C>T ESCA-CN 1 247016561 247016561 single base substitution G A upstream_gene_variant ESCA-CN 1 247040549 247040549 single base substitution C A exon_variant ESCA-CN 1 247040549 247040549 single base substitution C A stop_gained E906* 2716G>T ESCA-CN 1 247040549 247040549 single base substitution C A stop_gained E915* 2743G>T ESCA-CN 1 247040549 247040549 single base substitution C A stop_gained E941* 2821G>T ESCA-CN 1 247040549 247040549 single base substitution C A upstream_gene_variant ESCA-CN 1 247076399 247076399 insertion of <=200bp - T downstream_gene_variant ESCA-CN 1 247076399 247076399 insertion of <=200bp - T intron_variant KIRC-US 1 247061603 247061603 single base substitution G T exon_variant KIRC-US 1 247061603 247061603 single base substitution G T synonymous_variant L510L 1530C>A KIRC-US 1 247061603 247061603 single base substitution G T synonymous_variant L519L 1557C>A KIRC-US 1 247061603 247061603 single base substitution G T synonymous_variant L545L 1635C>A KIRC-US 1 247081660 247081660 single base substitution T G synonymous_variant R14R 40A>C KIRC-US 1 247081660 247081660 single base substitution T G synonymous_variant R40R 118A>C KIRC-US 1 247081660 247081660 single base substitution T G synonymous_variant R5R 13A>C KIRP-US 1 247053281 247053281 single base substitution C T exon_variant KIRP-US 1 247053281 247053281 single base substitution C T missense_variant E711K 2131G>A KIRP-US 1 247053281 247053281 single base substitution C T missense_variant E720K 2158G>A KIRP-US 1 247053281 247053281 single base substitution C T missense_variant E746K 2236G>A KIRP-US 1 247070995 247070995 single base substitution C T missense_variant G208R 622G>A KIRP-US 1 247070995 247070995 single base substitution C T missense_variant G217R 649G>A KIRP-US 1 247070995 247070995 single base substitution C T missense_variant G243R 727G>A LAML-KR 1 247004037 247004037 single base substitution C G 3_prime_UTR_variant LAML-KR 1 247004037 247004037 single base substitution C G downstream_gene_variant LAML-KR 1 247004037 247004037 single base substitution C G exon_variant LAML-KR 1 247014089 247014089 single base substitution C G exon_variant LAML-KR 1 247014089 247014089 single base substitution C G missense_variant R1740P 5219G>C LAML-KR 1 247014089 247014089 single base substitution C G missense_variant R1749P 5246G>C LAML-KR 1 247014089 247014089 single base substitution C G missense_variant R1775P 5324G>C LAML-KR 1 247014089 247014089 single base substitution C G upstream_gene_variant LAML-KR 1 247024642 247024642 single base substitution A G downstream_gene_variant LAML-KR 1 247024642 247024642 single base substitution A G intron_variant LAML-KR 1 247036758 247036758 single base substitution G A intron_variant LAML-KR 1 247036772 247036772 single base substitution C T intron_variant LAML-KR 1 247045273 247045273 single base substitution T C intron_variant LAML-KR 1 247045273 247045273 single base substitution T C upstream_gene_variant LAML-KR 1 247045274 247045274 single base substitution G A intron_variant LAML-KR 1 247045274 247045274 single base substitution G A upstream_gene_variant LAML-KR 1 247063209 247063209 single base substitution G A intron_variant LAML-KR 1 247063209 247063209 single base substitution G A upstream_gene_variant LAML-KR 1 247068785 247068785 single base substitution C T intron_variant LGG-US 1 247013166 247013166 insertion of <=200bp - T downstream_gene_variant LGG-US 1 247013166 247013166 insertion of <=200bp - T exon_variant LGG-US 1 247013166 247013166 insertion of <=200bp - T frameshift_variant L2048H? LGG-US 1 247013166 247013166 insertion of <=200bp - T frameshift_variant L2057H? LGG-US 1 247013166 247013166 insertion of <=200bp - T frameshift_variant L2083H? LGG-US 1 247013166 247013166 insertion of <=200bp - T upstream_gene_variant LICA-CN 1 247014525 247014525 single base substitution T A exon_variant LICA-CN 1 247014525 247014525 single base substitution T A missense_variant I1595L 4783A>T LICA-CN 1 247014525 247014525 single base substitution T A missense_variant I1604L 4810A>T LICA-CN 1 247014525 247014525 single base substitution T A missense_variant I1630L 4888A>T LICA-CN 1 247014525 247014525 single base substitution T A upstream_gene_variant LICA-CN 1 247061564 247061564 single base substitution T A exon_variant LICA-CN 1 247061564 247061564 single base substitution T A synonymous_variant V523V 1569A>T LICA-CN 1 247061564 247061564 single base substitution T A synonymous_variant V532V 1596A>T LICA-CN 1 247061564 247061564 single base substitution T A synonymous_variant V558V 1674A>T LICA-CN 1 247079476 247079476 single base substitution T C downstream_gene_variant LICA-CN 1 247079476 247079476 single base substitution T C missense_variant K115E 343A>G LICA-CN 1 247079476 247079476 single base substitution T C missense_variant K124E 370A>G LICA-CN 1 247079476 247079476 single base substitution T C missense_variant K150E 448A>G LICA-FR 1 246997881 246997881 single base substitution A G downstream_gene_variant LICA-FR 1 247004124 247004124 single base substitution C T downstream_gene_variant LICA-FR 1 247004124 247004124 single base substitution C T exon_variant LICA-FR 1 247004124 247004124 single base substitution C T missense_variant R2262H 6785G>A LICA-FR 1 247004124 247004124 single base substitution C T missense_variant R2271H 6812G>A LICA-FR 1 247004124 247004124 single base substitution C T missense_variant R2297H 6890G>A LICA-FR 1 247013241 247013241 single base substitution C T exon_variant LICA-FR 1 247013241 247013241 single base substitution C T missense_variant G2023R 6067G>A LICA-FR 1 247013241 247013241 single base substitution C T missense_variant G2032R 6094G>A LICA-FR 1 247013241 247013241 single base substitution C T missense_variant G2058R 6172G>A LICA-FR 1 247013241 247013241 single base substitution C T upstream_gene_variant LICA-FR 1 247015636 247015636 single base substitution C A intron_variant LICA-FR 1 247015636 247015636 single base substitution C A upstream_gene_variant LICA-FR 1 247019149 247019149 single base substitution T A intron_variant LICA-FR 1 247024322 247024322 single base substitution G T downstream_gene_variant LICA-FR 1 247024322 247024322 single base substitution G T exon_variant LICA-FR 1 247024322 247024322 single base substitution G T synonymous_variant A1337A 4011C>A LICA-FR 1 247024322 247024322 single base substitution G T synonymous_variant A1346A 4038C>A LICA-FR 1 247024322 247024322 single base substitution G T synonymous_variant A1372A 4116C>A LICA-FR 1 247034725 247034725 single base substitution T C intron_variant LICA-FR 1 247041689 247041689 single base substitution A C intron_variant LICA-FR 1 247041689 247041689 single base substitution A C upstream_gene_variant LICA-FR 1 247056593 247056593 single base substitution T C intron_variant LICA-FR 1 247070852 247070852 single base substitution C A splice_donor_variant LICA-FR 1 247099806 247099806 single base substitution C A upstream_gene_variant LIHC-US 1 247013752 247013752 single base substitution T A exon_variant LIHC-US 1 247013752 247013752 single base substitution T A synonymous_variant P1852P 5556A>T LIHC-US 1 247013752 247013752 single base substitution T A synonymous_variant P1861P 5583A>T LIHC-US 1 247013752 247013752 single base substitution T A synonymous_variant P1887P 5661A>T LIHC-US 1 247013752 247013752 single base substitution T A upstream_gene_variant LIHC-US 1 247014692 247014692 single base substitution T C exon_variant LIHC-US 1 247014692 247014692 single base substitution T C missense_variant N1539S 4616A>G LIHC-US 1 247014692 247014692 single base substitution T C missense_variant N1548S 4643A>G LIHC-US 1 247014692 247014692 single base substitution T C missense_variant N1574S 4721A>G LIHC-US 1 247014692 247014692 single base substitution T C upstream_gene_variant LIHC-US 1 247024551 247024551 single base substitution C A downstream_gene_variant LIHC-US 1 247024551 247024551 single base substitution C A exon_variant LIHC-US 1 247024551 247024551 single base substitution C A missense_variant C1261F 3782G>T LIHC-US 1 247024551 247024551 single base substitution C A missense_variant C1270F 3809G>T LIHC-US 1 247024551 247024551 single base substitution C A missense_variant C1296F 3887G>T LIHC-US 1 247024552 247024552 insertion of <=200bp - T downstream_gene_variant LIHC-US 1 247024552 247024552 insertion of <=200bp - T exon_variant LIHC-US 1 247024552 247024552 insertion of <=200bp - T frameshift_variant C1261*? LIHC-US 1 247024552 247024552 insertion of <=200bp - T frameshift_variant C1270*? LIHC-US 1 247024552 247024552 insertion of <=200bp - T frameshift_variant C1296*? LIHC-US 1 247031037 247031037 single base substitution G T exon_variant LIHC-US 1 247031037 247031037 single base substitution G T synonymous_variant I1055I 3165C>A LIHC-US 1 247031037 247031037 single base substitution G T synonymous_variant I1064I 3192C>A LIHC-US 1 247031037 247031037 single base substitution G T synonymous_variant I1090I 3270C>A LIHC-US 1 247031037 247031037 single base substitution G T upstream_gene_variant LINC-JP 1 247007185 247007185 single base substitution T A exon_variant LINC-JP 1 247007185 247007185 single base substitution T A intron_variant LINC-JP 1 247007185 247007185 single base substitution T A missense_variant D2146V 6437A>T LINC-JP 1 247007185 247007185 single base substitution T A missense_variant D2155V 6464A>T LINC-JP 1 247007185 247007185 single base substitution T A missense_variant D2181V 6542A>T LINC-JP 1 247008108 247008108 insertion of <=200bp - T intron_variant LINC-JP 1 247020912 247020912 single base substitution T C downstream_gene_variant LINC-JP 1 247020912 247020912 single base substitution T C intron_variant LINC-JP 1 247021280 247021280 single base substitution G T downstream_gene_variant LINC-JP 1 247021280 247021280 single base substitution G T intron_variant LINC-JP 1 247021281 247021281 single base substitution A T downstream_gene_variant LINC-JP 1 247021281 247021281 single base substitution A T intron_variant LINC-JP 1 247028802 247028802 single base substitution T C intron_variant LINC-JP 1 247028802 247028802 single base substitution T C upstream_gene_variant LINC-JP 1 247042121 247042121 single base substitution T C intron_variant LINC-JP 1 247042121 247042121 single base substitution T C upstream_gene_variant LINC-JP 1 247046299 247046299 single base substitution T C intron_variant LINC-JP 1 247051422 247051422 single base substitution T C intron_variant LINC-JP 1 247051952 247051952 single base substitution T A intron_variant LINC-JP 1 247053370 247053370 single base substitution T G intron_variant LINC-JP 1 247058970 247058970 single base substitution C T intron_variant LINC-JP 1 247062793 247062793 single base substitution G A missense_variant S485L 1454C>T LINC-JP 1 247062793 247062793 single base substitution G A missense_variant S494L 1481C>T LINC-JP 1 247062793 247062793 single base substitution G A missense_variant S520L 1559C>T LINC-JP 1 247062793 247062793 single base substitution G A upstream_gene_variant LINC-JP 1 247062824 247062824 single base substitution A T intron_variant LINC-JP 1 247062824 247062824 single base substitution A T upstream_gene_variant LINC-JP 1 247063533 247063533 single base substitution T C synonymous_variant L422L 1266A>G LINC-JP 1 247063533 247063533 single base substitution T C synonymous_variant L431L 1293A>G LINC-JP 1 247063533 247063533 single base substitution T C synonymous_variant L457L 1371A>G LINC-JP 1 247063533 247063533 single base substitution T C upstream_gene_variant LINC-JP 1 247063567 247063567 single base substitution C T intron_variant LINC-JP 1 247063567 247063567 single base substitution C T upstream_gene_variant LINC-JP 1 247065819 247065819 single base substitution T C splice_region_variant LINC-JP 1 247065819 247065819 single base substitution T C upstream_gene_variant LINC-JP 1 247065908 247065908 single base substitution T C missense_variant T346A 1036A>G LINC-JP 1 247065908 247065908 single base substitution T C missense_variant T355A 1063A>G LINC-JP 1 247065908 247065908 single base substitution T C missense_variant T381A 1141A>G LINC-JP 1 247065908 247065908 single base substitution T C upstream_gene_variant LINC-JP 1 247069873 247069873 single base substitution G A intron_variant LINC-JP 1 247073430 247073430 single base substitution A T intron_variant LINC-JP 1 247077084 247077084 single base substitution C A downstream_gene_variant LINC-JP 1 247077084 247077084 single base substitution C A intron_variant LINC-JP 1 247081570 247081570 deletion of <=200bp G - frameshift_variant R35 LINC-JP 1 247081570 247081570 deletion of <=200bp G - frameshift_variant R44 LINC-JP 1 247081570 247081570 deletion of <=200bp G - frameshift_variant R70 LINC-JP 1 247091676 247091676 single base substitution A G intron_variant LINC-JP 1 247094484 247094484 single base substitution C A intron_variant LINC-JP 1 247094484 247094484 single base substitution C A synonymous_variant V15V 45G>T LINC-JP 1 247094566 247094566 single base substitution C A 5_prime_UTR_variant LINC-JP 1 247094566 247094566 single base substitution C A intron_variant LIRI-JP 1 246998594 246998594 single base substitution G A downstream_gene_variant LIRI-JP 1 246999204 246999204 single base substitution T C downstream_gene_variant LIRI-JP 1 247000597 247000597 single base substitution T C downstream_gene_variant LIRI-JP 1 247002050 247002050 single base substitution C A downstream_gene_variant LIRI-JP 1 247002052 247002052 single base substitution A G downstream_gene_variant LIRI-JP 1 247003273 247003273 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 247003273 247003273 single base substitution T C downstream_gene_variant LIRI-JP 1 247003273 247003273 single base substitution T C exon_variant LIRI-JP 1 247004149 247004149 single base substitution A C downstream_gene_variant LIRI-JP 1 247004149 247004149 single base substitution A C exon_variant LIRI-JP 1 247004149 247004149 single base substitution A C missense_variant S2254A 6760T>G LIRI-JP 1 247004149 247004149 single base substitution A C missense_variant S2263A 6787T>G LIRI-JP 1 247004149 247004149 single base substitution A C missense_variant S2289A 6865T>G LIRI-JP 1 247005247 247005247 single base substitution C A intron_variant LIRI-JP 1 247005788 247005788 single base substitution G A intron_variant LIRI-JP 1 247009087 247009087 single base substitution T C downstream_gene_variant LIRI-JP 1 247009087 247009087 single base substitution T C intron_variant LIRI-JP 1 247010016 247010016 single base substitution A T downstream_gene_variant LIRI-JP 1 247010016 247010016 single base substitution A T intron_variant LIRI-JP 1 247011073 247011073 single base substitution A C downstream_gene_variant LIRI-JP 1 247011073 247011073 single base substitution A C intron_variant LIRI-JP 1 247011399 247011399 single base substitution A G downstream_gene_variant LIRI-JP 1 247011399 247011399 single base substitution A G intron_variant LIRI-JP 1 247011920 247011920 single base substitution C G downstream_gene_variant LIRI-JP 1 247011920 247011920 single base substitution C G intron_variant LIRI-JP 1 247014751 247014751 single base substitution G T intron_variant LIRI-JP 1 247014751 247014751 single base substitution G T splice_region_variant LIRI-JP 1 247014751 247014751 single base substitution G T upstream_gene_variant LIRI-JP 1 247015215 247015215 single base substitution C T exon_variant LIRI-JP 1 247015215 247015215 single base substitution C T intron_variant LIRI-JP 1 247015215 247015215 single base substitution C T upstream_gene_variant LIRI-JP 1 247015216 247015216 single base substitution C G exon_variant LIRI-JP 1 247015216 247015216 single base substitution C G intron_variant LIRI-JP 1 247015216 247015216 single base substitution C G upstream_gene_variant LIRI-JP 1 247020011 247020011 single base substitution C T intron_variant LIRI-JP 1 247020331 247020331 single base substitution G A downstream_gene_variant LIRI-JP 1 247020331 247020331 single base substitution G A intron_variant LIRI-JP 1 247021034 247021034 single base substitution T C downstream_gene_variant LIRI-JP 1 247021034 247021034 single base substitution T C exon_variant LIRI-JP 1 247021034 247021034 single base substitution T C synonymous_variant Q1405Q 4215A>G LIRI-JP 1 247021034 247021034 single base substitution T C synonymous_variant Q1414Q 4242A>G LIRI-JP 1 247021034 247021034 single base substitution T C synonymous_variant Q1440Q 4320A>G LIRI-JP 1 247022965 247022965 single base substitution C A downstream_gene_variant LIRI-JP 1 247022965 247022965 single base substitution C A intron_variant LIRI-JP 1 247024141 247024141 single base substitution T A downstream_gene_variant LIRI-JP 1 247024141 247024141 single base substitution T A intron_variant LIRI-JP 1 247025947 247025947 deletion of <=200bp C - intron_variant LIRI-JP 1 247027182 247027182 single base substitution A C intron_variant LIRI-JP 1 247028331 247028331 single base substitution C T intron_variant LIRI-JP 1 247028331 247028331 single base substitution C T upstream_gene_variant LIRI-JP 1 247029538 247029538 single base substitution T C intron_variant LIRI-JP 1 247029538 247029538 single base substitution T C upstream_gene_variant LIRI-JP 1 247029823 247029823 single base substitution C T intron_variant LIRI-JP 1 247029823 247029823 single base substitution C T upstream_gene_variant LIRI-JP 1 247032682 247032682 single base substitution T C intron_variant LIRI-JP 1 247034901 247034901 single base substitution C A intron_variant LIRI-JP 1 247034941 247034941 single base substitution G A intron_variant LIRI-JP 1 247038189 247038189 single base substitution T C intron_variant LIRI-JP 1 247040605 247040605 single base substitution C A splice_acceptor_variant LIRI-JP 1 247040605 247040605 single base substitution C A upstream_gene_variant LIRI-JP 1 247040691 247040691 single base substitution T G intron_variant LIRI-JP 1 247040691 247040691 single base substitution T G upstream_gene_variant LIRI-JP 1 247041375 247041375 single base substitution C A intron_variant LIRI-JP 1 247041375 247041375 single base substitution C A upstream_gene_variant LIRI-JP 1 247041759 247041759 single base substitution T C intron_variant LIRI-JP 1 247041759 247041759 single base substitution T C upstream_gene_variant LIRI-JP 1 247045847 247045847 single base substitution T C intron_variant LIRI-JP 1 247046984 247046984 deletion of <=200bp T - intron_variant LIRI-JP 1 247047309 247047309 single base substitution A C intron_variant LIRI-JP 1 247048187 247048187 single base substitution T C intron_variant LIRI-JP 1 247049217 247049217 single base substitution G A intron_variant LIRI-JP 1 247049538 247049538 single base substitution C A intron_variant LIRI-JP 1 247050110 247050110 single base substitution G C intron_variant LIRI-JP 1 247052768 247052768 single base substitution A C intron_variant LIRI-JP 1 247053185 247053185 single base substitution T C intron_variant LIRI-JP 1 247053912 247053912 single base substitution T C intron_variant LIRI-JP 1 247056546 247056546 single base substitution C T intron_variant LIRI-JP 1 247059015 247059015 single base substitution T C intron_variant LIRI-JP 1 247060294 247060294 single base substitution T C intron_variant LIRI-JP 1 247063109 247063109 single base substitution T C intron_variant LIRI-JP 1 247063109 247063109 single base substitution T C upstream_gene_variant LIRI-JP 1 247065409 247065409 single base substitution G C intron_variant LIRI-JP 1 247065409 247065409 single base substitution G C upstream_gene_variant LIRI-JP 1 247066435 247066435 single base substitution T A intron_variant LIRI-JP 1 247066435 247066435 single base substitution T A upstream_gene_variant LIRI-JP 1 247067195 247067195 single base substitution T C intron_variant LIRI-JP 1 247067195 247067195 single base substitution T C upstream_gene_variant LIRI-JP 1 247067669 247067669 single base substitution A C intron_variant LIRI-JP 1 247067669 247067669 single base substitution A C upstream_gene_variant LIRI-JP 1 247067981 247067981 single base substitution C T intron_variant LIRI-JP 1 247068093 247068093 single base substitution T C intron_variant LIRI-JP 1 247070383 247070383 single base substitution T C intron_variant LIRI-JP 1 247071229 247071229 single base substitution T G intron_variant LIRI-JP 1 247071305 247071305 single base substitution C G intron_variant LIRI-JP 1 247071811 247071811 single base substitution C A intron_variant LIRI-JP 1 247076630 247076630 single base substitution C A downstream_gene_variant LIRI-JP 1 247076630 247076630 single base substitution C A stop_gained G154* 460G>T LIRI-JP 1 247076630 247076630 single base substitution C A stop_gained G163* 487G>T LIRI-JP 1 247076630 247076630 single base substitution C A stop_gained G189* 565G>T LIRI-JP 1 247076995 247076995 single base substitution T C downstream_gene_variant LIRI-JP 1 247076995 247076995 single base substitution T C intron_variant LIRI-JP 1 247077084 247077084 single base substitution C A downstream_gene_variant LIRI-JP 1 247077084 247077084 single base substitution C A intron_variant LIRI-JP 1 247078340 247078340 single base substitution T C downstream_gene_variant LIRI-JP 1 247078340 247078340 single base substitution T C intron_variant LIRI-JP 1 247080050 247080050 single base substitution G C intron_variant LIRI-JP 1 247081313 247081313 single base substitution A G intron_variant LIRI-JP 1 247081748 247081748 single base substitution C T intron_variant LIRI-JP 1 247083734 247083734 single base substitution G C intron_variant LIRI-JP 1 247084620 247084620 single base substitution T C intron_variant LIRI-JP 1 247088508 247088508 single base substitution T C intron_variant LIRI-JP 1 247088691 247088695 deletion of <=200bp GTTTT - intron_variant LIRI-JP 1 247091410 247091410 single base substitution T C intron_variant LIRI-JP 1 247092754 247092754 single base substitution T C intron_variant LIRI-JP 1 247092865 247092865 single base substitution G A intron_variant LIRI-JP 1 247093231 247093231 single base substitution G A intron_variant LIRI-JP 1 247093988 247093988 single base substitution T A intron_variant LIRI-JP 1 247094146 247094146 single base substitution T C intron_variant LIRI-JP 1 247094375 247094375 single base substitution C T intron_variant LIRI-JP 1 247096961 247096961 single base substitution G T upstream_gene_variant LUSC-KR 1 246998623 246998623 single base substitution C T downstream_gene_variant LUSC-KR 1 246999210 246999210 single base substitution G T downstream_gene_variant LUSC-KR 1 247004392 247004392 single base substitution C T intron_variant LUSC-KR 1 247006051 247006051 single base substitution G C 3_prime_UTR_variant LUSC-KR 1 247006051 247006051 single base substitution G C intron_variant LUSC-KR 1 247006051 247006051 single base substitution G C missense_variant L2185V 6553C>G LUSC-KR 1 247006051 247006051 single base substitution G C missense_variant L2194V 6580C>G LUSC-KR 1 247006051 247006051 single base substitution G C missense_variant L2220V 6658C>G LUSC-KR 1 247007850 247007850 single base substitution C A intron_variant LUSC-KR 1 247020318 247020318 single base substitution C T downstream_gene_variant LUSC-KR 1 247020318 247020318 single base substitution C T intron_variant LUSC-KR 1 247024211 247024211 single base substitution C T downstream_gene_variant LUSC-KR 1 247024211 247024211 single base substitution C T exon_variant LUSC-KR 1 247024211 247024211 single base substitution C T synonymous_variant Q1374Q 4122G>A LUSC-KR 1 247024211 247024211 single base substitution C T synonymous_variant Q1383Q 4149G>A LUSC-KR 1 247024211 247024211 single base substitution C T synonymous_variant Q1409Q 4227G>A LUSC-KR 1 247024234 247024234 single base substitution C T downstream_gene_variant LUSC-KR 1 247024234 247024234 single base substitution C T exon_variant LUSC-KR 1 247024234 247024234 single base substitution C T missense_variant E1367K 4099G>A LUSC-KR 1 247024234 247024234 single base substitution C T missense_variant E1376K 4126G>A LUSC-KR 1 247024234 247024234 single base substitution C T missense_variant E1402K 4204G>A LUSC-KR 1 247025207 247025207 single base substitution G A downstream_gene_variant LUSC-KR 1 247025207 247025207 single base substitution G A intron_variant LUSC-KR 1 247025614 247025614 single base substitution C T intron_variant LUSC-KR 1 247025850 247025850 single base substitution C T intron_variant LUSC-KR 1 247031237 247031237 single base substitution C G intron_variant LUSC-KR 1 247031237 247031237 single base substitution C G upstream_gene_variant LUSC-KR 1 247036102 247036102 single base substitution G A intron_variant LUSC-KR 1 247039256 247039256 single base substitution A C intron_variant LUSC-KR 1 247042861 247042861 single base substitution C A intron_variant LUSC-KR 1 247042861 247042861 single base substitution C A upstream_gene_variant LUSC-KR 1 247047636 247047636 single base substitution T A intron_variant LUSC-KR 1 247050645 247050645 single base substitution T C exon_variant LUSC-KR 1 247050645 247050645 single base substitution T C synonymous_variant L780L 2340A>G LUSC-KR 1 247050645 247050645 single base substitution T C synonymous_variant L789L 2367A>G LUSC-KR 1 247050645 247050645 single base substitution T C synonymous_variant L815L 2445A>G LUSC-KR 1 247050916 247050916 single base substitution G A intron_variant LUSC-KR 1 247054263 247054263 single base substitution C A exon_variant LUSC-KR 1 247054263 247054263 single base substitution C A missense_variant G682V 2045G>T LUSC-KR 1 247054263 247054263 single base substitution C A missense_variant G691V 2072G>T LUSC-KR 1 247054263 247054263 single base substitution C A missense_variant G717V 2150G>T LUSC-KR 1 247054264 247054264 single base substitution C A exon_variant LUSC-KR 1 247054264 247054264 single base substitution C A missense_variant G682C 2044G>T LUSC-KR 1 247054264 247054264 single base substitution C A missense_variant G691C 2071G>T LUSC-KR 1 247054264 247054264 single base substitution C A missense_variant G717C 2149G>T LUSC-KR 1 247061466 247061466 single base substitution C T intron_variant LUSC-KR 1 247067132 247067132 single base substitution T C intron_variant LUSC-KR 1 247067132 247067132 single base substitution T C upstream_gene_variant LUSC-KR 1 247067253 247067253 single base substitution C G missense_variant E322Q 964G>C LUSC-KR 1 247067253 247067253 single base substitution C G missense_variant E331Q 991G>C LUSC-KR 1 247067253 247067253 single base substitution C G missense_variant E357Q 1069G>C LUSC-KR 1 247067253 247067253 single base substitution C G upstream_gene_variant LUSC-KR 1 247067397 247067397 single base substitution C A intron_variant LUSC-KR 1 247067397 247067397 single base substitution C A upstream_gene_variant LUSC-KR 1 247068785 247068785 single base substitution C T intron_variant LUSC-KR 1 247076485 247076485 single base substitution C G downstream_gene_variant LUSC-KR 1 247076485 247076485 single base substitution C G intron_variant LUSC-KR 1 247081383 247081383 single base substitution A G intron_variant LUSC-KR 1 247086321 247086321 single base substitution C T intron_variant LUSC-KR 1 247087077 247087077 single base substitution G A intron_variant LUSC-KR 1 247091369 247091369 single base substitution C A intron_variant LUSC-KR 1 247093595 247093595 single base substitution G A intron_variant LUSC-KR 1 247094204 247094204 single base substitution C T intron_variant LUSC-KR 1 247094890 247094890 single base substitution C A 5_prime_UTR_variant LUSC-KR 1 247094890 247094890 single base substitution C A upstream_gene_variant LUSC-KR 1 247095241 247095241 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 1 247095241 247095241 single base substitution C A upstream_gene_variant LUSC-US 1 247006029 247006029 single base substitution C A 3_prime_UTR_variant LUSC-US 1 247006029 247006029 single base substitution C A intron_variant LUSC-US 1 247006029 247006029 single base substitution C A missense_variant R2192L 6575G>T LUSC-US 1 247006029 247006029 single base substitution C A missense_variant R2201L 6602G>T LUSC-US 1 247006029 247006029 single base substitution C A missense_variant R2227L 6680G>T LUSC-US 1 247013588 247013588 single base substitution C G exon_variant LUSC-US 1 247013588 247013588 single base substitution C G missense_variant R1907T 5720G>C LUSC-US 1 247013588 247013588 single base substitution C G missense_variant R1916T 5747G>C LUSC-US 1 247013588 247013588 single base substitution C G missense_variant R1942T 5825G>C LUSC-US 1 247013588 247013588 single base substitution C G upstream_gene_variant LUSC-US 1 247024390 247024390 single base substitution C A downstream_gene_variant LUSC-US 1 247024390 247024390 single base substitution C A exon_variant LUSC-US 1 247024390 247024390 single base substitution C A missense_variant D1315Y 3943G>T LUSC-US 1 247024390 247024390 single base substitution C A missense_variant D1324Y 3970G>T LUSC-US 1 247024390 247024390 single base substitution C A missense_variant D1350Y 4048G>T LUSC-US 1 247024468 247024468 single base substitution G C downstream_gene_variant LUSC-US 1 247024468 247024468 single base substitution G C exon_variant LUSC-US 1 247024468 247024468 single base substitution G C missense_variant Q1289E 3865C>G LUSC-US 1 247024468 247024468 single base substitution G C missense_variant Q1298E 3892C>G LUSC-US 1 247024468 247024468 single base substitution G C missense_variant Q1324E 3970C>G LUSC-US 1 247025278 247025278 single base substitution G A exon_variant LUSC-US 1 247025278 247025278 single base substitution G A missense_variant P1240S 3718C>T LUSC-US 1 247025278 247025278 single base substitution G A missense_variant P1249S 3745C>T LUSC-US 1 247025278 247025278 single base substitution G A missense_variant P1275S 3823C>T LUSC-US 1 247025290 247025290 single base substitution C G exon_variant LUSC-US 1 247025290 247025290 single base substitution C G missense_variant E1236Q 3706G>C LUSC-US 1 247025290 247025290 single base substitution C G missense_variant E1245Q 3733G>C LUSC-US 1 247025290 247025290 single base substitution C G missense_variant E1271Q 3811G>C LUSC-US 1 247040362 247040362 single base substitution G A exon_variant LUSC-US 1 247040362 247040362 single base substitution G A stop_gained Q943* 2827C>T LUSC-US 1 247040362 247040362 single base substitution G A stop_gained Q952* 2854C>T LUSC-US 1 247040362 247040362 single base substitution G A stop_gained Q978* 2932C>T LUSC-US 1 247050612 247050612 single base substitution T C exon_variant LUSC-US 1 247050612 247050612 single base substitution T C synonymous_variant T791T 2373A>G LUSC-US 1 247050612 247050612 single base substitution T C synonymous_variant T800T 2400A>G LUSC-US 1 247050612 247050612 single base substitution T C synonymous_variant T826T 2478A>G LUSC-US 1 247053361 247053361 single base substitution T C missense_variant D684G 2051A>G LUSC-US 1 247053361 247053361 single base substitution T C missense_variant D693G 2078A>G LUSC-US 1 247053361 247053361 single base substitution T C missense_variant D719G 2156A>G LUSC-US 1 247053361 247053361 single base substitution T C splice_region_variant LUSC-US 1 247076562 247076562 single base substitution T C downstream_gene_variant LUSC-US 1 247076562 247076562 single base substitution T C synonymous_variant S176S 528A>G LUSC-US 1 247076562 247076562 single base substitution T C synonymous_variant S185S 555A>G LUSC-US 1 247076562 247076562 single base substitution T C synonymous_variant S211S 633A>G MALY-DE 1 246998252 246998262 deletion of <=200bp TTTTTTTTTTT - downstream_gene_variant MALY-DE 1 247001622 247001622 single base substitution G T downstream_gene_variant MALY-DE 1 247001929 247001929 single base substitution G A downstream_gene_variant MALY-DE 1 247006708 247006708 single base substitution A C intron_variant MALY-DE 1 247006746 247006746 single base substitution A G intron_variant MALY-DE 1 247006752 247006752 single base substitution T G intron_variant MALY-DE 1 247006841 247006841 single base substitution A T intron_variant MALY-DE 1 247006852 247006852 single base substitution A G intron_variant MALY-DE 1 247013565 247013565 single base substitution C A exon_variant MALY-DE 1 247013565 247013565 single base substitution C A stop_gained E1915* 5743G>T MALY-DE 1 247013565 247013565 single base substitution C A stop_gained E1924* 5770G>T MALY-DE 1 247013565 247013565 single base substitution C A stop_gained E1950* 5848G>T MALY-DE 1 247013565 247013565 single base substitution C A upstream_gene_variant MALY-DE 1 247055683 247055683 single base substitution C T intron_variant MALY-DE 1 247061990 247061990 single base substitution T C intron_variant MALY-DE 1 247071618 247071618 single base substitution A G intron_variant MALY-DE 1 247079149 247079149 single base substitution T C downstream_gene_variant MALY-DE 1 247079149 247079149 single base substitution T C intron_variant MALY-DE 1 247082228 247082228 single base substitution A G intron_variant MALY-DE 1 247083500 247083500 single base substitution A G intron_variant MALY-DE 1 247092929 247092929 single base substitution C T intron_variant MALY-DE 1 247095164 247095164 single base substitution C T 5_prime_UTR_variant MALY-DE 1 247095164 247095164 single base substitution C T upstream_gene_variant MALY-DE 1 247095525 247095525 single base substitution A T upstream_gene_variant MALY-DE 1 247097081 247097081 single base substitution G T upstream_gene_variant MELA-AU 1 246997449 246997449 single base substitution G A downstream_gene_variant MELA-AU 1 246997513 246997513 single base substitution A G downstream_gene_variant MELA-AU 1 246997683 246997683 single base substitution G A downstream_gene_variant MELA-AU 1 246997704 246997704 single base substitution A G downstream_gene_variant MELA-AU 1 246998652 246998652 single base substitution T A downstream_gene_variant MELA-AU 1 246998668 246998668 single base substitution T C downstream_gene_variant MELA-AU 1 246998748 246998748 single base substitution C T downstream_gene_variant MELA-AU 1 246998815 246998815 single base substitution G A downstream_gene_variant MELA-AU 1 246999076 246999076 single base substitution G A downstream_gene_variant MELA-AU 1 246999405 246999405 single base substitution G A downstream_gene_variant MELA-AU 1 247000276 247000276 single base substitution G A downstream_gene_variant MELA-AU 1 247002156 247002156 single base substitution C T downstream_gene_variant MELA-AU 1 247003249 247003249 single base substitution T C 3_prime_UTR_variant MELA-AU 1 247003249 247003249 single base substitution T C downstream_gene_variant MELA-AU 1 247003249 247003249 single base substitution T C exon_variant MELA-AU 1 247003370 247003370 single base substitution G A 3_prime_UTR_variant MELA-AU 1 247003370 247003370 single base substitution G A downstream_gene_variant MELA-AU 1 247003370 247003370 single base substitution G A exon_variant MELA-AU 1 247003683 247003683 single base substitution A T 3_prime_UTR_variant MELA-AU 1 247003683 247003683 single base substitution A T downstream_gene_variant MELA-AU 1 247003683 247003683 single base substitution A T exon_variant MELA-AU 1 247004242 247004243 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 247004242 247004243 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 1 247004242 247004243 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant SP2222SS MELA-AU 1 247004242 247004243 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant SP2231SS MELA-AU 1 247004242 247004243 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant SP2257SS MELA-AU 1 247004383 247004383 single base substitution C T intron_variant MELA-AU 1 247004394 247004394 single base substitution G A intron_variant MELA-AU 1 247004435 247004435 single base substitution G A intron_variant MELA-AU 1 247004500 247004500 single base substitution G A intron_variant MELA-AU 1 247004931 247004931 single base substitution G A intron_variant MELA-AU 1 247005216 247005216 single base substitution G A intron_variant MELA-AU 1 247006018 247006018 single base substitution A T 3_prime_UTR_variant MELA-AU 1 247006018 247006018 single base substitution A T intron_variant MELA-AU 1 247006018 247006018 single base substitution A T missense_variant S2196T 6586T>A MELA-AU 1 247006018 247006018 single base substitution A T missense_variant S2205T 6613T>A MELA-AU 1 247006018 247006018 single base substitution A T missense_variant S2231T 6691T>A MELA-AU 1 247007369 247007369 single base substitution C T intron_variant MELA-AU 1 247008081 247008081 single base substitution G A intron_variant MELA-AU 1 247008814 247008814 single base substitution G A downstream_gene_variant MELA-AU 1 247008814 247008814 single base substitution G A intron_variant MELA-AU 1 247009531 247009531 single base substitution G A downstream_gene_variant MELA-AU 1 247009531 247009531 single base substitution G A intron_variant MELA-AU 1 247009581 247009582 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 247009581 247009582 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 247009606 247009606 single base substitution G A downstream_gene_variant MELA-AU 1 247009606 247009606 single base substitution G A intron_variant MELA-AU 1 247009741 247009741 single base substitution G A downstream_gene_variant MELA-AU 1 247009741 247009741 single base substitution G A intron_variant MELA-AU 1 247009787 247009787 single base substitution A T downstream_gene_variant MELA-AU 1 247009787 247009787 single base substitution A T intron_variant MELA-AU 1 247009792 247009792 single base substitution T G downstream_gene_variant MELA-AU 1 247009792 247009792 single base substitution T G intron_variant MELA-AU 1 247010015 247010015 single base substitution G A downstream_gene_variant MELA-AU 1 247010015 247010015 single base substitution G A intron_variant MELA-AU 1 247010486 247010486 single base substitution G A downstream_gene_variant MELA-AU 1 247010486 247010486 single base substitution G A intron_variant MELA-AU 1 247010720 247010720 single base substitution G A downstream_gene_variant MELA-AU 1 247010720 247010720 single base substitution G A intron_variant MELA-AU 1 247010753 247010753 single base substitution G A downstream_gene_variant MELA-AU 1 247010753 247010753 single base substitution G A intron_variant MELA-AU 1 247010848 247010848 single base substitution G A downstream_gene_variant MELA-AU 1 247010848 247010848 single base substitution G A intron_variant MELA-AU 1 247012060 247012060 single base substitution G A downstream_gene_variant MELA-AU 1 247012060 247012060 single base substitution G A intron_variant MELA-AU 1 247013100 247013100 single base substitution C T downstream_gene_variant MELA-AU 1 247013100 247013100 single base substitution C T exon_variant MELA-AU 1 247013100 247013100 single base substitution C T missense_variant D2070N 6208G>A MELA-AU 1 247013100 247013100 single base substitution C T missense_variant D2079N 6235G>A MELA-AU 1 247013100 247013100 single base substitution C T missense_variant D2105N 6313G>A MELA-AU 1 247013533 247013533 single base substitution G A exon_variant MELA-AU 1 247013533 247013533 single base substitution G A synonymous_variant S1925S 5775C>T MELA-AU 1 247013533 247013533 single base substitution G A synonymous_variant S1934S 5802C>T MELA-AU 1 247013533 247013533 single base substitution G A synonymous_variant S1960S 5880C>T MELA-AU 1 247013533 247013533 single base substitution G A upstream_gene_variant MELA-AU 1 247014069 247014069 single base substitution G A exon_variant MELA-AU 1 247014069 247014069 single base substitution G A stop_gained Q1747* 5239C>T MELA-AU 1 247014069 247014069 single base substitution G A stop_gained Q1756* 5266C>T MELA-AU 1 247014069 247014069 single base substitution G A stop_gained Q1782* 5344C>T MELA-AU 1 247014069 247014069 single base substitution G A upstream_gene_variant MELA-AU 1 247015080 247015080 single base substitution A C intron_variant MELA-AU 1 247015080 247015080 single base substitution A C upstream_gene_variant MELA-AU 1 247015770 247015770 single base substitution G T intron_variant MELA-AU 1 247015770 247015770 single base substitution G T upstream_gene_variant MELA-AU 1 247018252 247018252 single base substitution G A intron_variant MELA-AU 1 247018452 247018452 single base substitution G A intron_variant MELA-AU 1 247018965 247018965 deletion of <=200bp G - intron_variant MELA-AU 1 247019123 247019123 single base substitution G A exon_variant MELA-AU 1 247019123 247019123 single base substitution G A synonymous_variant I1421I 4263C>T MELA-AU 1 247019123 247019123 single base substitution G A synonymous_variant I1430I 4290C>T MELA-AU 1 247019123 247019123 single base substitution G A synonymous_variant I1456I 4368C>T MELA-AU 1 247019196 247019196 single base substitution C T intron_variant MELA-AU 1 247019602 247019602 single base substitution G A intron_variant MELA-AU 1 247020126 247020126 single base substitution G A intron_variant MELA-AU 1 247020347 247020347 single base substitution C T downstream_gene_variant MELA-AU 1 247020347 247020347 single base substitution C T intron_variant MELA-AU 1 247021261 247021261 insertion of <=200bp - TTC downstream_gene_variant MELA-AU 1 247021261 247021261 insertion of <=200bp - TTC intron_variant MELA-AU 1 247022549 247022549 single base substitution T C downstream_gene_variant MELA-AU 1 247022549 247022549 single base substitution T C intron_variant MELA-AU 1 247023221 247023221 single base substitution T C downstream_gene_variant MELA-AU 1 247023221 247023221 single base substitution T C intron_variant MELA-AU 1 247023444 247023444 single base substitution C A downstream_gene_variant MELA-AU 1 247023444 247023444 single base substitution C A intron_variant MELA-AU 1 247024483 247024483 single base substitution G A downstream_gene_variant MELA-AU 1 247024483 247024483 single base substitution G A exon_variant MELA-AU 1 247024483 247024483 single base substitution G A missense_variant P1284S 3850C>T MELA-AU 1 247024483 247024483 single base substitution G A missense_variant P1293S 3877C>T MELA-AU 1 247024483 247024483 single base substitution G A missense_variant P1319S 3955C>T MELA-AU 1 247024900 247024900 single base substitution C T downstream_gene_variant MELA-AU 1 247024900 247024900 single base substitution C T intron_variant MELA-AU 1 247025559 247025559 single base substitution G A intron_variant MELA-AU 1 247026203 247026203 single base substitution A T intron_variant MELA-AU 1 247026611 247026611 single base substitution G A intron_variant MELA-AU 1 247026661 247026661 single base substitution G A intron_variant MELA-AU 1 247027201 247027201 single base substitution G A intron_variant MELA-AU 1 247027301 247027301 single base substitution C T exon_variant MELA-AU 1 247027301 247027301 single base substitution C T synonymous_variant S1155S 3465G>A MELA-AU 1 247027301 247027301 single base substitution C T synonymous_variant S1164S 3492G>A MELA-AU 1 247027301 247027301 single base substitution C T synonymous_variant S1190S 3570G>A MELA-AU 1 247028929 247028929 single base substitution T C intron_variant MELA-AU 1 247028929 247028929 single base substitution T C upstream_gene_variant MELA-AU 1 247029319 247029319 single base substitution A G intron_variant MELA-AU 1 247029319 247029319 single base substitution A G upstream_gene_variant MELA-AU 1 247030254 247030254 single base substitution G A intron_variant MELA-AU 1 247030254 247030254 single base substitution G A upstream_gene_variant MELA-AU 1 247031203 247031203 single base substitution C A intron_variant MELA-AU 1 247031203 247031203 single base substitution C A upstream_gene_variant MELA-AU 1 247032748 247032748 single base substitution G A intron_variant MELA-AU 1 247032936 247032936 single base substitution G A intron_variant MELA-AU 1 247033040 247033040 single base substitution T A intron_variant MELA-AU 1 247033349 247033349 single base substitution A G intron_variant MELA-AU 1 247035108 247035108 single base substitution G A intron_variant MELA-AU 1 247035613 247035613 single base substitution G A intron_variant MELA-AU 1 247035800 247035800 single base substitution C T intron_variant MELA-AU 1 247036547 247036547 single base substitution G A intron_variant MELA-AU 1 247038106 247038106 single base substitution A G intron_variant MELA-AU 1 247039509 247039509 single base substitution G A intron_variant MELA-AU 1 247042251 247042251 single base substitution C T intron_variant MELA-AU 1 247042251 247042251 single base substitution C T upstream_gene_variant MELA-AU 1 247042456 247042456 single base substitution C T intron_variant MELA-AU 1 247042456 247042456 single base substitution C T upstream_gene_variant MELA-AU 1 247042629 247042629 single base substitution G A intron_variant MELA-AU 1 247042629 247042629 single base substitution G A upstream_gene_variant MELA-AU 1 247042726 247042726 single base substitution G A intron_variant MELA-AU 1 247042726 247042726 single base substitution G A upstream_gene_variant MELA-AU 1 247045211 247045211 single base substitution G A intron_variant MELA-AU 1 247045211 247045211 single base substitution G A upstream_gene_variant MELA-AU 1 247045526 247045526 single base substitution C T intron_variant MELA-AU 1 247045537 247045537 single base substitution G A intron_variant MELA-AU 1 247045912 247045912 single base substitution G A intron_variant MELA-AU 1 247045943 247045943 single base substitution G A intron_variant MELA-AU 1 247046653 247046653 single base substitution T C intron_variant MELA-AU 1 247047212 247047212 single base substitution C T intron_variant MELA-AU 1 247049487 247049487 single base substitution G A intron_variant MELA-AU 1 247049601 247049601 single base substitution C T intron_variant MELA-AU 1 247049670 247049670 single base substitution G A intron_variant MELA-AU 1 247050761 247050761 single base substitution G A intron_variant MELA-AU 1 247050895 247050895 single base substitution G A intron_variant MELA-AU 1 247051549 247051549 single base substitution G A intron_variant MELA-AU 1 247052546 247052546 single base substitution G A intron_variant MELA-AU 1 247053083 247053083 single base substitution C T intron_variant MELA-AU 1 247053219 247053219 single base substitution G A intron_variant MELA-AU 1 247053385 247053385 single base substitution A G intron_variant MELA-AU 1 247054757 247054757 single base substitution G A intron_variant MELA-AU 1 247055396 247055396 single base substitution A C intron_variant MELA-AU 1 247056077 247056077 single base substitution G A intron_variant MELA-AU 1 247056122 247056122 single base substitution G A intron_variant MELA-AU 1 247056260 247056260 single base substitution A C intron_variant MELA-AU 1 247056299 247056300 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 247056633 247056633 single base substitution G A intron_variant MELA-AU 1 247056658 247056658 single base substitution T A intron_variant MELA-AU 1 247056862 247056862 single base substitution A T intron_variant MELA-AU 1 247056926 247056926 single base substitution G A intron_variant MELA-AU 1 247058903 247058903 single base substitution G A intron_variant MELA-AU 1 247058913 247058913 single base substitution G A intron_variant MELA-AU 1 247059033 247059033 single base substitution T A intron_variant MELA-AU 1 247059085 247059086 multiple base substitution (>=2bp and <=200bp) AA GT intron_variant MELA-AU 1 247059268 247059268 single base substitution G A intron_variant MELA-AU 1 247059497 247059497 single base substitution G A intron_variant MELA-AU 1 247059689 247059689 single base substitution G A intron_variant MELA-AU 1 247059878 247059878 single base substitution G A intron_variant MELA-AU 1 247060080 247060080 single base substitution G A intron_variant MELA-AU 1 247060649 247060649 single base substitution G A intron_variant MELA-AU 1 247060710 247060710 single base substitution A T intron_variant MELA-AU 1 247060764 247060765 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 247061549 247061549 single base substitution G A exon_variant MELA-AU 1 247061549 247061549 single base substitution G A synonymous_variant S528S 1584C>T MELA-AU 1 247061549 247061549 single base substitution G A synonymous_variant S537S 1611C>T MELA-AU 1 247061549 247061549 single base substitution G A synonymous_variant S563S 1689C>T MELA-AU 1 247061748 247061748 single base substitution G A intron_variant MELA-AU 1 247062028 247062028 single base substitution A G intron_variant MELA-AU 1 247062064 247062064 single base substitution G A intron_variant MELA-AU 1 247062933 247062933 single base substitution C T intron_variant MELA-AU 1 247062933 247062933 single base substitution C T upstream_gene_variant MELA-AU 1 247062985 247062985 single base substitution A G intron_variant MELA-AU 1 247062985 247062985 single base substitution A G upstream_gene_variant MELA-AU 1 247063069 247063077 deletion of <=200bp AGCTACTAT - intron_variant MELA-AU 1 247063069 247063077 deletion of <=200bp AGCTACTAT - upstream_gene_variant MELA-AU 1 247063750 247063750 single base substitution A C missense_variant V380G 1139T>G MELA-AU 1 247063750 247063750 single base substitution A C missense_variant V389G 1166T>G MELA-AU 1 247063750 247063750 single base substitution A C missense_variant V415G 1244T>G MELA-AU 1 247063750 247063750 single base substitution A C upstream_gene_variant MELA-AU 1 247063775 247063775 single base substitution G A splice_region_variant MELA-AU 1 247063775 247063775 single base substitution G A upstream_gene_variant MELA-AU 1 247064144 247064144 single base substitution G A intron_variant MELA-AU 1 247064144 247064144 single base substitution G A upstream_gene_variant MELA-AU 1 247064705 247064705 single base substitution G A intron_variant MELA-AU 1 247064705 247064705 single base substitution G A upstream_gene_variant MELA-AU 1 247064714 247064714 single base substitution G A intron_variant MELA-AU 1 247064714 247064714 single base substitution G A upstream_gene_variant MELA-AU 1 247064731 247064731 single base substitution G A intron_variant MELA-AU 1 247064731 247064731 single base substitution G A upstream_gene_variant MELA-AU 1 247065451 247065451 single base substitution G A intron_variant MELA-AU 1 247065451 247065451 single base substitution G A upstream_gene_variant MELA-AU 1 247065666 247065666 single base substitution G A intron_variant MELA-AU 1 247065666 247065666 single base substitution G A upstream_gene_variant MELA-AU 1 247065752 247065752 single base substitution A T intron_variant MELA-AU 1 247065752 247065752 single base substitution A T upstream_gene_variant MELA-AU 1 247066079 247066079 single base substitution G A intron_variant MELA-AU 1 247066079 247066079 single base substitution G A upstream_gene_variant MELA-AU 1 247066892 247066892 single base substitution G A intron_variant MELA-AU 1 247066892 247066892 single base substitution G A upstream_gene_variant MELA-AU 1 247066966 247066966 single base substitution C T intron_variant MELA-AU 1 247066966 247066966 single base substitution C T upstream_gene_variant MELA-AU 1 247068522 247068522 single base substitution C T intron_variant MELA-AU 1 247068578 247068578 single base substitution G A intron_variant MELA-AU 1 247068728 247068728 single base substitution G A intron_variant MELA-AU 1 247069383 247069383 single base substitution G A intron_variant MELA-AU 1 247069707 247069707 single base substitution C T intron_variant MELA-AU 1 247069998 247069998 single base substitution G A intron_variant MELA-AU 1 247070233 247070233 single base substitution T A intron_variant MELA-AU 1 247071374 247071374 single base substitution G A intron_variant MELA-AU 1 247071460 247071460 single base substitution G A intron_variant MELA-AU 1 247071610 247071610 single base substitution A G intron_variant MELA-AU 1 247071740 247071740 single base substitution T A intron_variant MELA-AU 1 247071979 247071979 single base substitution G A intron_variant MELA-AU 1 247072007 247072007 single base substitution G A intron_variant MELA-AU 1 247072013 247072013 single base substitution C A intron_variant MELA-AU 1 247072369 247072369 single base substitution C A intron_variant MELA-AU 1 247072373 247072373 single base substitution A C intron_variant MELA-AU 1 247072413 247072413 single base substitution T C intron_variant MELA-AU 1 247072867 247072867 single base substitution G A intron_variant MELA-AU 1 247072970 247072970 single base substitution C T intron_variant MELA-AU 1 247073087 247073087 single base substitution G A intron_variant MELA-AU 1 247073459 247073459 single base substitution G A intron_variant MELA-AU 1 247074011 247074011 single base substitution A T intron_variant MELA-AU 1 247074472 247074472 single base substitution G A intron_variant MELA-AU 1 247074696 247074696 single base substitution T C downstream_gene_variant MELA-AU 1 247074696 247074696 single base substitution T C intron_variant MELA-AU 1 247074866 247074866 single base substitution G A downstream_gene_variant MELA-AU 1 247074866 247074866 single base substitution G A intron_variant MELA-AU 1 247075717 247075717 single base substitution G A downstream_gene_variant MELA-AU 1 247075717 247075717 single base substitution G A intron_variant MELA-AU 1 247077032 247077032 single base substitution C T downstream_gene_variant MELA-AU 1 247077032 247077032 single base substitution C T intron_variant MELA-AU 1 247077183 247077183 single base substitution G A downstream_gene_variant MELA-AU 1 247077183 247077183 single base substitution G A intron_variant MELA-AU 1 247079030 247079030 single base substitution G A downstream_gene_variant MELA-AU 1 247079030 247079030 single base substitution G A intron_variant MELA-AU 1 247079757 247079757 single base substitution G A intron_variant MELA-AU 1 247080497 247080497 single base substitution A T intron_variant MELA-AU 1 247080574 247080574 single base substitution G A intron_variant MELA-AU 1 247080648 247080648 single base substitution A C intron_variant MELA-AU 1 247081029 247081029 single base substitution C T intron_variant MELA-AU 1 247081339 247081339 single base substitution G A intron_variant MELA-AU 1 247081627 247081627 single base substitution G A missense_variant P16S 46C>T MELA-AU 1 247081627 247081627 single base substitution G A missense_variant P25S 73C>T MELA-AU 1 247081627 247081627 single base substitution G A missense_variant P51S 151C>T MELA-AU 1 247082332 247082332 single base substitution G A intron_variant MELA-AU 1 247082396 247082396 single base substitution A C intron_variant MELA-AU 1 247082478 247082478 single base substitution G A intron_variant MELA-AU 1 247083695 247083695 single base substitution C T intron_variant MELA-AU 1 247083811 247083811 single base substitution C A intron_variant MELA-AU 1 247083857 247083858 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 247084124 247084124 single base substitution A C intron_variant MELA-AU 1 247084524 247084524 single base substitution G A intron_variant MELA-AU 1 247085532 247085532 single base substitution T G intron_variant MELA-AU 1 247086044 247086044 single base substitution G A intron_variant MELA-AU 1 247086050 247086050 single base substitution C A intron_variant MELA-AU 1 247086073 247086073 single base substitution A G intron_variant MELA-AU 1 247086180 247086180 single base substitution G A intron_variant MELA-AU 1 247086522 247086522 single base substitution G A intron_variant MELA-AU 1 247087150 247087150 single base substitution G A intron_variant MELA-AU 1 247088622 247088622 single base substitution G A intron_variant MELA-AU 1 247089275 247089276 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 247089313 247089313 single base substitution G A intron_variant MELA-AU 1 247089690 247089690 single base substitution G A intron_variant MELA-AU 1 247091308 247091308 single base substitution T A intron_variant MELA-AU 1 247091311 247091311 single base substitution A T intron_variant MELA-AU 1 247091594 247091594 single base substitution G A intron_variant MELA-AU 1 247092188 247092188 single base substitution C T intron_variant MELA-AU 1 247092308 247092308 single base substitution G A intron_variant MELA-AU 1 247092976 247092976 single base substitution T G intron_variant MELA-AU 1 247093277 247093277 single base substitution C T intron_variant MELA-AU 1 247093329 247093330 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 247093391 247093391 single base substitution G A intron_variant MELA-AU 1 247094498 247094498 single base substitution C T intron_variant MELA-AU 1 247094498 247094498 single base substitution C T missense_variant E11K 31G>A MELA-AU 1 247094896 247094896 single base substitution A T 5_prime_UTR_variant MELA-AU 1 247094896 247094896 single base substitution A T upstream_gene_variant MELA-AU 1 247095146 247095146 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 247095146 247095146 single base substitution G A upstream_gene_variant MELA-AU 1 247095271 247095271 single base substitution G A 5_prime_UTR_variant MELA-AU 1 247095271 247095271 single base substitution G A upstream_gene_variant MELA-AU 1 247095272 247095272 single base substitution G A 5_prime_UTR_variant MELA-AU 1 247095272 247095272 single base substitution G A upstream_gene_variant MELA-AU 1 247095357 247095357 single base substitution C T upstream_gene_variant MELA-AU 1 247095556 247095556 single base substitution C T upstream_gene_variant MELA-AU 1 247096656 247096656 single base substitution G A upstream_gene_variant MELA-AU 1 247096734 247096734 single base substitution T C upstream_gene_variant MELA-AU 1 247097808 247097808 single base substitution C T upstream_gene_variant MELA-AU 1 247097903 247097903 single base substitution G A upstream_gene_variant MELA-AU 1 247098901 247098901 single base substitution C T upstream_gene_variant MELA-AU 1 247098916 247098916 single base substitution C T upstream_gene_variant MELA-AU 1 247099009 247099009 single base substitution T G upstream_gene_variant MELA-AU 1 247100234 247100234 single base substitution G A upstream_gene_variant NBL-US 1 247014426 247014426 single base substitution A T exon_variant NBL-US 1 247014426 247014426 single base substitution A T missense_variant C1628S 4882T>A NBL-US 1 247014426 247014426 single base substitution A T missense_variant C1637S 4909T>A NBL-US 1 247014426 247014426 single base substitution A T missense_variant C1663S 4987T>A NBL-US 1 247014426 247014426 single base substitution A T upstream_gene_variant ORCA-IN 1 247013015 247013015 single base substitution C A downstream_gene_variant ORCA-IN 1 247013015 247013015 single base substitution C A exon_variant ORCA-IN 1 247013015 247013015 single base substitution C A missense_variant R2098M 6293G>T ORCA-IN 1 247013015 247013015 single base substitution C A missense_variant R2107M 6320G>T ORCA-IN 1 247013015 247013015 single base substitution C A missense_variant R2133M 6398G>T ORCA-IN 1 247039753 247039753 single base substitution C T intron_variant ORCA-IN 1 247044360 247044360 single base substitution G C intron_variant ORCA-IN 1 247044360 247044360 single base substitution G C upstream_gene_variant ORCA-IN 1 247049003 247049003 single base substitution G A intron_variant ORCA-IN 1 247054344 247054344 single base substitution T C exon_variant ORCA-IN 1 247054344 247054344 single base substitution T C missense_variant N655S 1964A>G ORCA-IN 1 247054344 247054344 single base substitution T C missense_variant N664S 1991A>G ORCA-IN 1 247054344 247054344 single base substitution T C missense_variant N690S 2069A>G ORCA-IN 1 247068920 247068920 single base substitution A T stop_gained Y268* 804T>A ORCA-IN 1 247068920 247068920 single base substitution A T stop_gained Y277* 831T>A ORCA-IN 1 247068920 247068920 single base substitution A T stop_gained Y303* 909T>A ORCA-IN 1 247072089 247072089 single base substitution G T intron_variant OV-AU 1 247001634 247001634 single base substitution T C downstream_gene_variant OV-AU 1 247003323 247003323 single base substitution C G 3_prime_UTR_variant OV-AU 1 247003323 247003323 single base substitution C G downstream_gene_variant OV-AU 1 247003323 247003323 single base substitution C G exon_variant OV-AU 1 247009509 247009509 single base substitution G A downstream_gene_variant OV-AU 1 247009509 247009509 single base substitution G A intron_variant OV-AU 1 247011376 247011376 single base substitution C G downstream_gene_variant OV-AU 1 247011376 247011376 single base substitution C G intron_variant OV-AU 1 247018417 247018417 single base substitution C G intron_variant OV-AU 1 247020910 247020910 single base substitution C G downstream_gene_variant OV-AU 1 247020910 247020910 single base substitution C G intron_variant OV-AU 1 247021664 247021664 single base substitution C T downstream_gene_variant OV-AU 1 247021664 247021664 single base substitution C T intron_variant OV-AU 1 247021780 247021780 single base substitution C G downstream_gene_variant OV-AU 1 247021780 247021780 single base substitution C G intron_variant OV-AU 1 247022990 247022990 single base substitution C T downstream_gene_variant OV-AU 1 247022990 247022990 single base substitution C T intron_variant OV-AU 1 247026677 247026677 single base substitution A G intron_variant OV-AU 1 247029823 247029823 single base substitution C T intron_variant OV-AU 1 247029823 247029823 single base substitution C T upstream_gene_variant OV-AU 1 247031737 247031737 single base substitution A G intron_variant OV-AU 1 247031737 247031737 single base substitution A G upstream_gene_variant OV-AU 1 247032103 247032103 single base substitution C G intron_variant OV-AU 1 247032103 247032103 single base substitution C G upstream_gene_variant OV-AU 1 247037818 247037818 single base substitution T C intron_variant OV-AU 1 247040756 247040756 single base substitution T G intron_variant OV-AU 1 247040756 247040756 single base substitution T G upstream_gene_variant OV-AU 1 247044928 247044928 single base substitution C A intron_variant OV-AU 1 247044928 247044928 single base substitution C A upstream_gene_variant OV-AU 1 247045272 247045272 single base substitution G A intron_variant OV-AU 1 247045272 247045272 single base substitution G A upstream_gene_variant OV-AU 1 247045373 247045373 single base substitution C A intron_variant OV-AU 1 247049147 247049147 single base substitution C G intron_variant OV-AU 1 247054559 247054559 single base substitution A T intron_variant OV-AU 1 247055608 247055608 single base substitution T A intron_variant OV-AU 1 247056530 247056530 single base substitution A G intron_variant OV-AU 1 247070877 247070877 single base substitution C G missense_variant W247S 740G>C OV-AU 1 247070877 247070877 single base substitution C G missense_variant W256S 767G>C OV-AU 1 247070877 247070877 single base substitution C G missense_variant W282S 845G>C OV-AU 1 247072409 247072409 single base substitution C T intron_variant OV-AU 1 247075619 247075619 single base substitution A C downstream_gene_variant OV-AU 1 247075619 247075619 single base substitution A C intron_variant OV-AU 1 247075952 247075952 single base substitution G C downstream_gene_variant OV-AU 1 247075952 247075952 single base substitution G C intron_variant OV-AU 1 247079259 247079259 single base substitution A C downstream_gene_variant OV-AU 1 247079259 247079259 single base substitution A C intron_variant OV-AU 1 247079976 247079976 single base substitution A T intron_variant OV-AU 1 247079977 247079977 single base substitution T G intron_variant OV-AU 1 247082155 247082155 single base substitution C T intron_variant OV-AU 1 247082729 247082729 single base substitution C G intron_variant OV-AU 1 247085454 247085454 single base substitution G A intron_variant OV-AU 1 247085760 247085760 single base substitution C G intron_variant OV-AU 1 247086321 247086321 single base substitution C G intron_variant OV-AU 1 247089799 247089799 single base substitution G C intron_variant OV-AU 1 247095412 247095412 single base substitution T C upstream_gene_variant OV-US 1 247014367 247014367 single base substitution A T exon_variant OV-US 1 247014367 247014367 single base substitution A T missense_variant S1647R 4941T>A OV-US 1 247014367 247014367 single base substitution A T missense_variant S1656R 4968T>A OV-US 1 247014367 247014367 single base substitution A T missense_variant S1682R 5046T>A OV-US 1 247014367 247014367 single base substitution A T upstream_gene_variant OV-US 1 247021017 247021017 single base substitution A T downstream_gene_variant OV-US 1 247021017 247021017 single base substitution A T exon_variant OV-US 1 247021017 247021017 single base substitution A T missense_variant L1411H 4232T>A OV-US 1 247021017 247021017 single base substitution A T missense_variant L1420H 4259T>A OV-US 1 247021017 247021017 single base substitution A T missense_variant L1446H 4337T>A OV-US 1 247071042 247071042 single base substitution C G missense_variant G192A 575G>C OV-US 1 247071042 247071042 single base substitution C G missense_variant G201A 602G>C OV-US 1 247071042 247071042 single base substitution C G missense_variant G227A 680G>C PACA-AU 1 246999307 246999307 single base substitution A G downstream_gene_variant PACA-AU 1 247000168 247000168 single base substitution G T downstream_gene_variant PACA-AU 1 247000395 247000395 single base substitution C T downstream_gene_variant PACA-AU 1 247002535 247002535 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 1 247002535 247002535 deletion of <=200bp A - downstream_gene_variant PACA-AU 1 247002535 247002535 deletion of <=200bp A - exon_variant PACA-AU 1 247007277 247007278 deletion of <=200bp TA - intron_variant PACA-AU 1 247009437 247009437 single base substitution T A downstream_gene_variant PACA-AU 1 247009437 247009437 single base substitution T A intron_variant PACA-AU 1 247013249 247013249 single base substitution A G exon_variant PACA-AU 1 247013249 247013249 single base substitution A G missense_variant V2020A 6059T>C PACA-AU 1 247013249 247013249 single base substitution A G missense_variant V2029A 6086T>C PACA-AU 1 247013249 247013249 single base substitution A G missense_variant V2055A 6164T>C PACA-AU 1 247013249 247013249 single base substitution A G upstream_gene_variant PACA-AU 1 247015370 247015370 single base substitution G A intron_variant PACA-AU 1 247015370 247015370 single base substitution G A upstream_gene_variant PACA-AU 1 247015698 247015698 single base substitution C A intron_variant PACA-AU 1 247015698 247015698 single base substitution C A upstream_gene_variant PACA-AU 1 247017397 247017397 single base substitution C T intron_variant PACA-AU 1 247017397 247017397 single base substitution C T upstream_gene_variant PACA-AU 1 247017462 247017462 single base substitution G A intron_variant PACA-AU 1 247017462 247017462 single base substitution G A upstream_gene_variant PACA-AU 1 247028916 247028916 single base substitution T A intron_variant PACA-AU 1 247028916 247028916 single base substitution T A upstream_gene_variant PACA-AU 1 247029258 247029258 single base substitution T C intron_variant PACA-AU 1 247029258 247029258 single base substitution T C upstream_gene_variant PACA-AU 1 247034779 247034779 single base substitution C T intron_variant PACA-AU 1 247037144 247037144 single base substitution C T intron_variant PACA-AU 1 247041294 247041294 single base substitution G A intron_variant PACA-AU 1 247041294 247041294 single base substitution G A upstream_gene_variant PACA-AU 1 247047252 247047252 deletion of <=200bp A - intron_variant PACA-AU 1 247051506 247051506 single base substitution G A exon_variant PACA-AU 1 247051506 247051506 single base substitution G A synonymous_variant G766G 2298C>T PACA-AU 1 247051506 247051506 single base substitution G A synonymous_variant G775G 2325C>T PACA-AU 1 247051506 247051506 single base substitution G A synonymous_variant G801G 2403C>T PACA-AU 1 247058354 247058354 single base substitution G T intron_variant PACA-AU 1 247058358 247058358 single base substitution G C intron_variant PACA-AU 1 247058713 247058714 deletion of <=200bp GT - intron_variant PACA-AU 1 247059330 247059330 single base substitution C T intron_variant PACA-AU 1 247062885 247062885 single base substitution C A intron_variant PACA-AU 1 247062885 247062885 single base substitution C A upstream_gene_variant PACA-AU 1 247063622 247063622 single base substitution A G intron_variant PACA-AU 1 247063622 247063622 single base substitution A G upstream_gene_variant PACA-AU 1 247063627 247063627 single base substitution A C intron_variant PACA-AU 1 247063627 247063627 single base substitution A C upstream_gene_variant PACA-AU 1 247064704 247064704 single base substitution C T intron_variant PACA-AU 1 247064704 247064704 single base substitution C T upstream_gene_variant PACA-AU 1 247067053 247067053 single base substitution T C intron_variant PACA-AU 1 247067053 247067053 single base substitution T C upstream_gene_variant PACA-AU 1 247067384 247067384 single base substitution C T intron_variant PACA-AU 1 247067384 247067384 single base substitution C T upstream_gene_variant PACA-AU 1 247079162 247079162 deletion of <=200bp A - downstream_gene_variant PACA-AU 1 247079162 247079162 deletion of <=200bp A - intron_variant PACA-AU 1 247080299 247080299 single base substitution G A intron_variant PACA-AU 1 247084327 247084327 single base substitution G C intron_variant PACA-AU 1 247091536 247091536 single base substitution C T intron_variant PACA-AU 1 247095913 247095913 single base substitution G A upstream_gene_variant PACA-CA 1 246998011 246998011 single base substitution C T downstream_gene_variant PACA-CA 1 247003238 247003238 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 1 247003238 247003238 insertion of <=200bp - A downstream_gene_variant PACA-CA 1 247003238 247003238 insertion of <=200bp - A exon_variant PACA-CA 1 247005883 247005883 insertion of <=200bp - A intron_variant PACA-CA 1 247006029 247006029 single base substitution C T 3_prime_UTR_variant PACA-CA 1 247006029 247006029 single base substitution C T intron_variant PACA-CA 1 247006029 247006029 single base substitution C T missense_variant R2192Q 6575G>A PACA-CA 1 247006029 247006029 single base substitution C T missense_variant R2201Q 6602G>A PACA-CA 1 247006029 247006029 single base substitution C T missense_variant R2227Q 6680G>A PACA-CA 1 247006160 247006160 single base substitution G T intron_variant PACA-CA 1 247006169 247006169 insertion of <=200bp - CTG intron_variant PACA-CA 1 247008557 247008557 single base substitution T C downstream_gene_variant PACA-CA 1 247008557 247008557 single base substitution T C intron_variant PACA-CA 1 247014459 247014459 single base substitution C G exon_variant PACA-CA 1 247014459 247014459 single base substitution C G missense_variant A1617P 4849G>C PACA-CA 1 247014459 247014459 single base substitution C G missense_variant A1626P 4876G>C PACA-CA 1 247014459 247014459 single base substitution C G missense_variant A1652P 4954G>C PACA-CA 1 247014459 247014459 single base substitution C G upstream_gene_variant PACA-CA 1 247022875 247022875 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 247022875 247022875 insertion of <=200bp - T intron_variant PACA-CA 1 247023051 247023051 single base substitution T A downstream_gene_variant PACA-CA 1 247023051 247023051 single base substitution T A intron_variant PACA-CA 1 247023404 247023404 single base substitution A C downstream_gene_variant PACA-CA 1 247023404 247023404 single base substitution A C intron_variant PACA-CA 1 247033669 247033669 single base substitution G A intron_variant PACA-CA 1 247035706 247035706 single base substitution G A intron_variant PACA-CA 1 247037471 247037471 single base substitution C G intron_variant PACA-CA 1 247042446 247042446 insertion of <=200bp - A intron_variant PACA-CA 1 247042446 247042446 insertion of <=200bp - A upstream_gene_variant PACA-CA 1 247043632 247043632 single base substitution C T intron_variant PACA-CA 1 247043632 247043632 single base substitution C T upstream_gene_variant PACA-CA 1 247045565 247045565 single base substitution C G intron_variant PACA-CA 1 247046422 247046422 single base substitution C G intron_variant PACA-CA 1 247049316 247049316 single base substitution C G intron_variant PACA-CA 1 247051803 247051803 single base substitution C T exon_variant PACA-CA 1 247051803 247051803 single base substitution C T missense_variant D721N 2161G>A PACA-CA 1 247051803 247051803 single base substitution C T missense_variant D730N 2188G>A PACA-CA 1 247051803 247051803 single base substitution C T missense_variant D756N 2266G>A PACA-CA 1 247053581 247053581 single base substitution T A intron_variant PACA-CA 1 247054528 247054528 single base substitution A G intron_variant PACA-CA 1 247055721 247055721 single base substitution C G intron_variant PACA-CA 1 247060615 247060615 insertion of <=200bp - A intron_variant PACA-CA 1 247061950 247061967 deletion of <=200bp ACACACACACACACACAG - intron_variant PACA-CA 1 247062155 247062155 single base substitution C G intron_variant PACA-CA 1 247064852 247064852 single base substitution G A intron_variant PACA-CA 1 247064852 247064852 single base substitution G A upstream_gene_variant PACA-CA 1 247069886 247069886 single base substitution A C intron_variant PACA-CA 1 247070962 247070962 single base substitution T C missense_variant T219A 655A>G PACA-CA 1 247070962 247070962 single base substitution T C missense_variant T228A 682A>G PACA-CA 1 247070962 247070962 single base substitution T C missense_variant T254A 760A>G PACA-CA 1 247072618 247072618 single base substitution C G intron_variant PACA-CA 1 247073706 247073706 single base substitution G C intron_variant PACA-CA 1 247075255 247075255 insertion of <=200bp - GTTG downstream_gene_variant PACA-CA 1 247075255 247075255 insertion of <=200bp - GTTG intron_variant PACA-CA 1 247075257 247075257 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 247075257 247075257 insertion of <=200bp - T intron_variant PACA-CA 1 247078249 247078249 single base substitution T C downstream_gene_variant PACA-CA 1 247078249 247078249 single base substitution T C intron_variant PACA-CA 1 247082168 247082168 single base substitution C G intron_variant PACA-CA 1 247086859 247086859 single base substitution A G intron_variant PACA-CA 1 247090258 247090258 single base substitution C T intron_variant PACA-CA 1 247090370 247090370 single base substitution C G intron_variant PACA-CA 1 247091944 247091944 single base substitution T C intron_variant PACA-CA 1 247093169 247093169 single base substitution T C intron_variant PACA-CA 1 247093524 247093524 single base substitution G T intron_variant PACA-CA 1 247097838 247097838 single base substitution G A upstream_gene_variant PACA-CA 1 247099199 247099199 single base substitution C T upstream_gene_variant PACA-CA 1 247099455 247099455 single base substitution A C upstream_gene_variant PAEN-AU 1 247054599 247054599 single base substitution A G intron_variant PAEN-AU 1 247076331 247076331 single base substitution A G downstream_gene_variant PAEN-AU 1 247076331 247076331 single base substitution A G intron_variant PAEN-IT 1 247073205 247073205 single base substitution C A intron_variant PBCA-DE 1 246998588 246998588 single base substitution T G downstream_gene_variant PBCA-DE 1 247017383 247017383 insertion of <=200bp - CC intron_variant PBCA-DE 1 247017383 247017383 insertion of <=200bp - CC upstream_gene_variant PBCA-DE 1 247019406 247019406 single base substitution A T intron_variant PBCA-DE 1 247020570 247020570 deletion of <=200bp A - downstream_gene_variant PBCA-DE 1 247020570 247020570 deletion of <=200bp A - intron_variant PBCA-DE 1 247021646 247021646 single base substitution A T downstream_gene_variant PBCA-DE 1 247021646 247021646 single base substitution A T intron_variant PBCA-DE 1 247038078 247038078 single base substitution T C intron_variant PBCA-DE 1 247069886 247069886 deletion of <=200bp A - intron_variant PBCA-DE 1 247072375 247072375 single base substitution A C intron_variant PBCA-DE 1 247084352 247084352 single base substitution G A intron_variant PBCA-DE 1 247098324 247098324 single base substitution C T upstream_gene_variant PRAD-CA 1 246997862 246997862 single base substitution C T downstream_gene_variant PRAD-CA 1 247020379 247020379 single base substitution A T downstream_gene_variant PRAD-CA 1 247020379 247020379 single base substitution A T intron_variant PRAD-CA 1 247022911 247022911 single base substitution G A downstream_gene_variant PRAD-CA 1 247022911 247022911 single base substitution G A intron_variant PRAD-CA 1 247031474 247031474 single base substitution A T intron_variant PRAD-CA 1 247031474 247031474 single base substitution A T upstream_gene_variant PRAD-CA 1 247043906 247043906 single base substitution T C intron_variant PRAD-CA 1 247043906 247043906 single base substitution T C upstream_gene_variant PRAD-UK 1 246998723 246998723 single base substitution G A downstream_gene_variant PRAD-UK 1 247001465 247001465 single base substitution A G downstream_gene_variant PRAD-UK 1 247012703 247012703 insertion of <=200bp - T downstream_gene_variant PRAD-UK 1 247012703 247012703 insertion of <=200bp - T intron_variant PRAD-UK 1 247036125 247036125 single base substitution T C intron_variant PRAD-UK 1 247047649 247047649 single base substitution T C intron_variant PRAD-UK 1 247076564 247076564 single base substitution A C downstream_gene_variant PRAD-UK 1 247076564 247076564 single base substitution A C missense_variant S176A 526T>G PRAD-UK 1 247076564 247076564 single base substitution A C missense_variant S185A 553T>G PRAD-UK 1 247076564 247076564 single base substitution A C missense_variant S211A 631T>G PRAD-UK 1 247080660 247080660 single base substitution C A intron_variant PRAD-UK 1 247084825 247084825 single base substitution T C intron_variant PRAD-US 1 247014376 247014376 single base substitution G C exon_variant PRAD-US 1 247014376 247014376 single base substitution G C synonymous_variant A1644A 4932C>G PRAD-US 1 247014376 247014376 single base substitution G C synonymous_variant A1653A 4959C>G PRAD-US 1 247014376 247014376 single base substitution G C synonymous_variant A1679A 5037C>G PRAD-US 1 247014376 247014376 single base substitution G C upstream_gene_variant READ-US 1 247013192 247013192 single base substitution G A exon_variant READ-US 1 247013192 247013192 single base substitution G A missense_variant S2039L 6116C>T READ-US 1 247013192 247013192 single base substitution G A missense_variant S2048L 6143C>T READ-US 1 247013192 247013192 single base substitution G A missense_variant S2074L 6221C>T READ-US 1 247013192 247013192 single base substitution G A upstream_gene_variant READ-US 1 247013528 247013528 single base substitution T C exon_variant READ-US 1 247013528 247013528 single base substitution T C missense_variant D1927G 5780A>G READ-US 1 247013528 247013528 single base substitution T C missense_variant D1936G 5807A>G READ-US 1 247013528 247013528 single base substitution T C missense_variant D1962G 5885A>G READ-US 1 247013528 247013528 single base substitution T C upstream_gene_variant RECA-EU 1 247028786 247028786 single base substitution G C intron_variant RECA-EU 1 247028786 247028786 single base substitution G C upstream_gene_variant RECA-EU 1 247034055 247034055 single base substitution T A intron_variant RECA-EU 1 247035081 247035081 single base substitution G A intron_variant RECA-EU 1 247051897 247051897 single base substitution A C intron_variant RECA-EU 1 247054300 247054300 single base substitution C A exon_variant RECA-EU 1 247054300 247054300 single base substitution C A missense_variant V670F 2008G>T RECA-EU 1 247054300 247054300 single base substitution C A missense_variant V679F 2035G>T RECA-EU 1 247054300 247054300 single base substitution C A missense_variant V705F 2113G>T RECA-EU 1 247056406 247056406 single base substitution A T intron_variant RECA-EU 1 247058502 247058502 single base substitution T A intron_variant RECA-EU 1 247065886 247065886 single base substitution C T missense_variant G353E 1058G>A RECA-EU 1 247065886 247065886 single base substitution C T missense_variant G362E 1085G>A RECA-EU 1 247065886 247065886 single base substitution C T missense_variant G388E 1163G>A RECA-EU 1 247065886 247065886 single base substitution C T upstream_gene_variant RECA-EU 1 247066622 247066622 single base substitution T A intron_variant RECA-EU 1 247066622 247066622 single base substitution T A upstream_gene_variant RECA-EU 1 247074062 247074062 single base substitution T A intron_variant RECA-EU 1 247087913 247087913 single base substitution C T intron_variant RECA-EU 1 247089526 247089526 single base substitution C G intron_variant RECA-EU 1 247092404 247092404 single base substitution T A intron_variant RECA-EU 1 247095304 247095304 single base substitution G C upstream_gene_variant RECA-EU 1 247095482 247095482 single base substitution C T upstream_gene_variant SKCA-BR 1 246999166 246999167 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 1 247001884 247001884 single base substitution T A downstream_gene_variant SKCA-BR 1 247001927 247001927 single base substitution A G downstream_gene_variant SKCA-BR 1 247002809 247002809 single base substitution G T 3_prime_UTR_variant SKCA-BR 1 247002809 247002809 single base substitution G T downstream_gene_variant SKCA-BR 1 247002809 247002809 single base substitution G T exon_variant SKCA-BR 1 247003110 247003110 single base substitution T C 3_prime_UTR_variant SKCA-BR 1 247003110 247003110 single base substitution T C downstream_gene_variant SKCA-BR 1 247003110 247003110 single base substitution T C exon_variant SKCA-BR 1 247004634 247004634 single base substitution G A intron_variant SKCA-BR 1 247004878 247004878 single base substitution G A intron_variant SKCA-BR 1 247005810 247005810 single base substitution G A intron_variant SKCA-BR 1 247016814 247016814 single base substitution T C intron_variant SKCA-BR 1 247016814 247016814 single base substitution T C upstream_gene_variant SKCA-BR 1 247017600 247017600 insertion of <=200bp - CA intron_variant SKCA-BR 1 247017600 247017600 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 1 247021611 247021611 single base substitution C T downstream_gene_variant SKCA-BR 1 247021611 247021611 single base substitution C T intron_variant SKCA-BR 1 247025738 247025738 single base substitution C T intron_variant SKCA-BR 1 247031203 247031205 deletion of <=200bp CCA - intron_variant SKCA-BR 1 247031203 247031205 deletion of <=200bp CCA - upstream_gene_variant SKCA-BR 1 247031237 247031237 single base substitution C G intron_variant SKCA-BR 1 247031237 247031237 single base substitution C G upstream_gene_variant SKCA-BR 1 247031693 247031693 single base substitution G A intron_variant SKCA-BR 1 247031693 247031693 single base substitution G A upstream_gene_variant SKCA-BR 1 247036323 247036323 single base substitution G A intron_variant SKCA-BR 1 247044362 247044362 single base substitution G A intron_variant SKCA-BR 1 247044362 247044362 single base substitution G A upstream_gene_variant SKCA-BR 1 247045138 247045151 deletion of <=200bp TCAAAAAAAAAAAC - intron_variant SKCA-BR 1 247045138 247045151 deletion of <=200bp TCAAAAAAAAAAAC - upstream_gene_variant SKCA-BR 1 247045771 247045771 single base substitution G A intron_variant SKCA-BR 1 247047626 247047629 deletion of <=200bp ACTT - intron_variant SKCA-BR 1 247047774 247047774 single base substitution A C intron_variant SKCA-BR 1 247051225 247051225 single base substitution G A intron_variant SKCA-BR 1 247051592 247051592 single base substitution A T intron_variant SKCA-BR 1 247054102 247054102 single base substitution G A intron_variant SKCA-BR 1 247054334 247054334 single base substitution C T exon_variant SKCA-BR 1 247054334 247054334 single base substitution C T synonymous_variant V658V 1974G>A SKCA-BR 1 247054334 247054334 single base substitution C T synonymous_variant V667V 2001G>A SKCA-BR 1 247054334 247054334 single base substitution C T synonymous_variant V693V 2079G>A SKCA-BR 1 247058991 247058991 single base substitution G A intron_variant SKCA-BR 1 247059436 247059436 single base substitution A C intron_variant SKCA-BR 1 247059878 247059878 single base substitution G A intron_variant SKCA-BR 1 247061061 247061061 single base substitution T G intron_variant SKCA-BR 1 247061092 247061092 single base substitution A G intron_variant SKCA-BR 1 247061132 247061132 single base substitution G A intron_variant SKCA-BR 1 247066964 247066965 deletion of <=200bp CT - intron_variant SKCA-BR 1 247066964 247066965 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 1 247066965 247066965 single base substitution T C intron_variant SKCA-BR 1 247066965 247066965 single base substitution T C upstream_gene_variant SKCA-BR 1 247067156 247067157 deletion of <=200bp AG - intron_variant SKCA-BR 1 247067156 247067157 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 1 247067185 247067185 single base substitution G A intron_variant SKCA-BR 1 247067185 247067185 single base substitution G A upstream_gene_variant SKCA-BR 1 247068494 247068494 single base substitution C T intron_variant SKCA-BR 1 247070033 247070033 single base substitution T C intron_variant SKCA-BR 1 247070062 247070062 single base substitution T C intron_variant SKCA-BR 1 247071181 247071182 deletion of <=200bp TA - intron_variant SKCA-BR 1 247071572 247071572 single base substitution T A intron_variant SKCA-BR 1 247074649 247074649 single base substitution C T downstream_gene_variant SKCA-BR 1 247074649 247074649 single base substitution C T intron_variant SKCA-BR 1 247080162 247080162 single base substitution G A intron_variant SKCA-BR 1 247081876 247081876 single base substitution A G intron_variant SKCA-BR 1 247083935 247083935 single base substitution G A intron_variant SKCA-BR 1 247084871 247084871 single base substitution C T intron_variant SKCA-BR 1 247086284 247086285 deletion of <=200bp CA - intron_variant SKCA-BR 1 247089903 247089903 single base substitution A C intron_variant SKCA-BR 1 247090776 247090776 single base substitution G A intron_variant SKCA-BR 1 247092712 247092712 insertion of <=200bp - AAAAAATAAAAAT intron_variant SKCA-BR 1 247093556 247093556 single base substitution T C intron_variant SKCA-BR 1 247093900 247093900 insertion of <=200bp - AG intron_variant SKCA-BR 1 247095155 247095155 single base substitution C A 5_prime_UTR_variant SKCA-BR 1 247095155 247095155 single base substitution C A upstream_gene_variant SKCA-BR 1 247099396 247099396 single base substitution A T upstream_gene_variant SKCA-BR 1 247100129 247100129 single base substitution C T upstream_gene_variant SKCM-US 1 247007213 247007213 single base substitution G A exon_variant SKCM-US 1 247007213 247007213 single base substitution G A intron_variant SKCM-US 1 247007213 247007213 single base substitution G A missense_variant P2137S 6409C>T SKCM-US 1 247007213 247007213 single base substitution G A missense_variant P2146S 6436C>T SKCM-US 1 247007213 247007213 single base substitution G A missense_variant P2172S 6514C>T SKCM-US 1 247013018 247013018 single base substitution C T downstream_gene_variant SKCM-US 1 247013018 247013018 single base substitution C T exon_variant SKCM-US 1 247013018 247013018 single base substitution C T missense_variant S2097N 6290G>A SKCM-US 1 247013018 247013018 single base substitution C T missense_variant S2106N 6317G>A SKCM-US 1 247013018 247013018 single base substitution C T missense_variant S2132N 6395G>A SKCM-US 1 247013051 247013051 single base substitution G A downstream_gene_variant SKCM-US 1 247013051 247013051 single base substitution G A exon_variant SKCM-US 1 247013051 247013051 single base substitution G A missense_variant A2086V 6257C>T SKCM-US 1 247013051 247013051 single base substitution G A missense_variant A2095V 6284C>T SKCM-US 1 247013051 247013051 single base substitution G A missense_variant A2121V 6362C>T SKCM-US 1 247013241 247013241 single base substitution C A exon_variant SKCM-US 1 247013241 247013241 single base substitution C A stop_gained G2023* 6067G>T SKCM-US 1 247013241 247013241 single base substitution C A stop_gained G2032* 6094G>T SKCM-US 1 247013241 247013241 single base substitution C A stop_gained G2058* 6172G>T SKCM-US 1 247013241 247013241 single base substitution C A upstream_gene_variant SKCM-US 1 247014101 247014101 single base substitution G A exon_variant SKCM-US 1 247014101 247014101 single base substitution G A missense_variant S1736F 5207C>T SKCM-US 1 247014101 247014101 single base substitution G A missense_variant S1745F 5234C>T SKCM-US 1 247014101 247014101 single base substitution G A missense_variant S1771F 5312C>T SKCM-US 1 247014101 247014101 single base substitution G A upstream_gene_variant SKCM-US 1 247019110 247019111 deletion of <=200bp AC - exon_variant SKCM-US 1 247019110 247019111 deletion of <=200bp AC - frameshift_variant KS1425 SKCM-US 1 247019110 247019111 deletion of <=200bp AC - frameshift_variant KS1434 SKCM-US 1 247019110 247019111 deletion of <=200bp AC - frameshift_variant KS1460 SKCM-US 1 247027368 247027368 single base substitution T C exon_variant SKCM-US 1 247027368 247027368 single base substitution T C missense_variant E1133G 3398A>G SKCM-US 1 247027368 247027368 single base substitution T C missense_variant E1142G 3425A>G SKCM-US 1 247027368 247027368 single base substitution T C missense_variant E1168G 3503A>G SKCM-US 1 247040307 247040307 single base substitution C T exon_variant SKCM-US 1 247040307 247040307 single base substitution C T missense_variant R961H 2882G>A SKCM-US 1 247040307 247040307 single base substitution C T missense_variant R970H 2909G>A SKCM-US 1 247040307 247040307 single base substitution C T missense_variant R996H 2987G>A SKCM-US 1 247040329 247040329 single base substitution G A exon_variant SKCM-US 1 247040329 247040329 single base substitution G A missense_variant L954F 2860C>T SKCM-US 1 247040329 247040329 single base substitution G A missense_variant L963F 2887C>T SKCM-US 1 247040329 247040329 single base substitution G A missense_variant L989F 2965C>T SKCM-US 1 247040330 247040330 single base substitution G A exon_variant SKCM-US 1 247040330 247040330 single base substitution G A synonymous_variant F953F 2859C>T SKCM-US 1 247040330 247040330 single base substitution G A synonymous_variant F962F 2886C>T SKCM-US 1 247040330 247040330 single base substitution G A synonymous_variant F988F 2964C>T SKCM-US 1 247063402 247063402 single base substitution G A missense_variant P466L 1397C>T SKCM-US 1 247063402 247063402 single base substitution G A missense_variant P475L 1424C>T SKCM-US 1 247063402 247063402 single base substitution G A missense_variant P501L 1502C>T SKCM-US 1 247063402 247063402 single base substitution G A upstream_gene_variant SKCM-US 1 247063417 247063417 single base substitution G A missense_variant P461L 1382C>T SKCM-US 1 247063417 247063417 single base substitution G A missense_variant P470L 1409C>T SKCM-US 1 247063417 247063417 single base substitution G A missense_variant P496L 1487C>T SKCM-US 1 247063417 247063417 single base substitution G A upstream_gene_variant SKCM-US 1 247063445 247063445 single base substitution C A stop_gained E452* 1354G>T SKCM-US 1 247063445 247063445 single base substitution C A stop_gained E461* 1381G>T SKCM-US 1 247063445 247063445 single base substitution C A stop_gained E487* 1459G>T SKCM-US 1 247063445 247063445 single base substitution C A upstream_gene_variant SKCM-US 1 247063765 247063765 single base substitution G A missense_variant S375L 1124C>T SKCM-US 1 247063765 247063765 single base substitution G A missense_variant S384L 1151C>T SKCM-US 1 247063765 247063765 single base substitution G A missense_variant S410L 1229C>T SKCM-US 1 247063765 247063765 single base substitution G A upstream_gene_variant SKCM-US 1 247065863 247065863 single base substitution G A stop_gained R361* 1081C>T SKCM-US 1 247065863 247065863 single base substitution G A stop_gained R370* 1108C>T SKCM-US 1 247065863 247065863 single base substitution G A stop_gained R396* 1186C>T SKCM-US 1 247065863 247065863 single base substitution G A upstream_gene_variant SKCM-US 1 247065900 247065900 single base substitution A T missense_variant N348K 1044T>A SKCM-US 1 247065900 247065900 single base substitution A T missense_variant N357K 1071T>A SKCM-US 1 247065900 247065900 single base substitution A T missense_variant N383K 1149T>A SKCM-US 1 247065900 247065900 single base substitution A T upstream_gene_variant SKCM-US 1 247079503 247079503 single base substitution G A downstream_gene_variant SKCM-US 1 247079503 247079503 single base substitution G A missense_variant L106F 316C>T SKCM-US 1 247079503 247079503 single base substitution G A missense_variant L115F 343C>T SKCM-US 1 247079503 247079503 single base substitution G A missense_variant L141F 421C>T SKCM-US 1 247081569 247081569 single base substitution C T missense_variant R35H 104G>A SKCM-US 1 247081569 247081569 single base substitution C T missense_variant R44H 131G>A SKCM-US 1 247081569 247081569 single base substitution C T missense_variant R70H 209G>A SKCM-US 1 247081627 247081627 single base substitution G A missense_variant P16S 46C>T SKCM-US 1 247081627 247081627 single base substitution G A missense_variant P25S 73C>T SKCM-US 1 247081627 247081627 single base substitution G A missense_variant P51S 151C>T STAD-US 1 247004253 247004253 single base substitution C T downstream_gene_variant STAD-US 1 247004253 247004253 single base substitution C T exon_variant STAD-US 1 247004253 247004253 single base substitution C T missense_variant R2219Q 6656G>A STAD-US 1 247004253 247004253 single base substitution C T missense_variant R2228Q 6683G>A STAD-US 1 247004253 247004253 single base substitution C T missense_variant R2254Q 6761G>A STAD-US 1 247006019 247006019 single base substitution C T 3_prime_UTR_variant STAD-US 1 247006019 247006019 single base substitution C T intron_variant STAD-US 1 247006019 247006019 single base substitution C T synonymous_variant T2195T 6585G>A STAD-US 1 247006019 247006019 single base substitution C T synonymous_variant T2204T 6612G>A STAD-US 1 247006019 247006019 single base substitution C T synonymous_variant T2230T 6690G>A STAD-US 1 247012967 247012967 single base substitution T C downstream_gene_variant STAD-US 1 247012967 247012967 single base substitution T C exon_variant STAD-US 1 247012967 247012967 single base substitution T C missense_variant N2114S 6341A>G STAD-US 1 247012967 247012967 single base substitution T C missense_variant N2123S 6368A>G STAD-US 1 247012967 247012967 single base substitution T C missense_variant N2149S 6446A>G STAD-US 1 247013668 247013668 single base substitution T C exon_variant STAD-US 1 247013668 247013668 single base substitution T C synonymous_variant E1880E 5640A>G STAD-US 1 247013668 247013668 single base substitution T C synonymous_variant E1889E 5667A>G STAD-US 1 247013668 247013668 single base substitution T C synonymous_variant E1915E 5745A>G STAD-US 1 247013668 247013668 single base substitution T C upstream_gene_variant STAD-US 1 247014591 247014591 single base substitution T C exon_variant STAD-US 1 247014591 247014591 single base substitution T C missense_variant T1573A 4717A>G STAD-US 1 247014591 247014591 single base substitution T C missense_variant T1582A 4744A>G STAD-US 1 247014591 247014591 single base substitution T C missense_variant T1608A 4822A>G STAD-US 1 247014591 247014591 single base substitution T C upstream_gene_variant STAD-US 1 247021071 247021071 single base substitution T C downstream_gene_variant STAD-US 1 247021071 247021071 single base substitution T C exon_variant STAD-US 1 247021071 247021071 single base substitution T C missense_variant E1393G 4178A>G STAD-US 1 247021071 247021071 single base substitution T C missense_variant E1402G 4205A>G STAD-US 1 247021071 247021071 single base substitution T C missense_variant E1428G 4283A>G STAD-US 1 247024358 247024358 single base substitution C T downstream_gene_variant STAD-US 1 247024358 247024358 single base substitution C T exon_variant STAD-US 1 247024358 247024358 single base substitution C T synonymous_variant P1325P 3975G>A STAD-US 1 247024358 247024358 single base substitution C T synonymous_variant P1334P 4002G>A STAD-US 1 247024358 247024358 single base substitution C T synonymous_variant P1360P 4080G>A STAD-US 1 247024375 247024375 single base substitution C T downstream_gene_variant STAD-US 1 247024375 247024375 single base substitution C T exon_variant STAD-US 1 247024375 247024375 single base substitution C T missense_variant E1320K 3958G>A STAD-US 1 247024375 247024375 single base substitution C T missense_variant E1329K 3985G>A STAD-US 1 247024375 247024375 single base substitution C T missense_variant E1355K 4063G>A STAD-US 1 247051505 247051505 single base substitution C T exon_variant STAD-US 1 247051505 247051505 single base substitution C T missense_variant V767I 2299G>A STAD-US 1 247051505 247051505 single base substitution C T missense_variant V776I 2326G>A STAD-US 1 247051505 247051505 single base substitution C T missense_variant V802I 2404G>A STAD-US 1 247054343 247054343 single base substitution A G exon_variant STAD-US 1 247054343 247054343 single base substitution A G synonymous_variant N655N 1965T>C STAD-US 1 247054343 247054343 single base substitution A G synonymous_variant N664N 1992T>C STAD-US 1 247054343 247054343 single base substitution A G synonymous_variant N690N 2070T>C STAD-US 1 247061597 247061600 deletion of <=200bp TTCA - exon_variant STAD-US 1 247061597 247061600 deletion of <=200bp TTCA - frameshift_variant NE511 STAD-US 1 247061597 247061600 deletion of <=200bp TTCA - frameshift_variant NE520 STAD-US 1 247061597 247061600 deletion of <=200bp TTCA - frameshift_variant NE546 STAD-US 1 247062790 247062790 single base substitution C T missense_variant G486E 1457G>A STAD-US 1 247062790 247062790 single base substitution C T missense_variant G495E 1484G>A STAD-US 1 247062790 247062790 single base substitution C T missense_variant G521E 1562G>A STAD-US 1 247062790 247062790 single base substitution C T upstream_gene_variant STAD-US 1 247062817 247062817 deletion of <=200bp A - splice_region_variant STAD-US 1 247062817 247062817 deletion of <=200bp A - upstream_gene_variant STAD-US 1 247063505 247063505 single base substitution A G missense_variant S432P 1294T>C STAD-US 1 247063505 247063505 single base substitution A G missense_variant S441P 1321T>C STAD-US 1 247063505 247063505 single base substitution A G missense_variant S467P 1399T>C STAD-US 1 247063505 247063505 single base substitution A G upstream_gene_variant STAD-US 1 247063740 247063740 single base substitution A T missense_variant F383L 1149T>A STAD-US 1 247063740 247063740 single base substitution A T missense_variant F392L 1176T>A STAD-US 1 247063740 247063740 single base substitution A T missense_variant F418L 1254T>A STAD-US 1 247063740 247063740 single base substitution A T upstream_gene_variant STAD-US 1 247071023 247071023 single base substitution T C synonymous_variant P198P 594A>G STAD-US 1 247071023 247071023 single base substitution T C synonymous_variant P207P 621A>G STAD-US 1 247071023 247071023 single base substitution T C synonymous_variant P233P 699A>G THCA-SA 1 247002655 247002655 single base substitution G C 3_prime_UTR_variant THCA-SA 1 247002655 247002655 single base substitution G C downstream_gene_variant THCA-SA 1 247002655 247002655 single base substitution G C exon_variant THCA-SA 1 247003293 247003293 single base substitution A G 3_prime_UTR_variant THCA-SA 1 247003293 247003293 single base substitution A G downstream_gene_variant THCA-SA 1 247003293 247003293 single base substitution A G exon_variant THCA-SA 1 247004031 247004031 single base substitution T C 3_prime_UTR_variant THCA-SA 1 247004031 247004031 single base substitution T C downstream_gene_variant THCA-SA 1 247004031 247004031 single base substitution T C exon_variant THCA-SA 1 247021085 247021085 single base substitution G C downstream_gene_variant THCA-SA 1 247021085 247021085 single base substitution G C exon_variant THCA-SA 1 247021085 247021085 single base substitution G C synonymous_variant L1388L 4164C>G THCA-SA 1 247021085 247021085 single base substitution G C synonymous_variant L1397L 4191C>G THCA-SA 1 247021085 247021085 single base substitution G C synonymous_variant L1423L 4269C>G UCEC-US 1 247004113 247004113 single base substitution G A downstream_gene_variant UCEC-US 1 247004113 247004113 single base substitution G A exon_variant UCEC-US 1 247004113 247004113 single base substitution G A synonymous_variant L2266L 6796C>T UCEC-US 1 247004113 247004113 single base substitution G A synonymous_variant L2275L 6823C>T UCEC-US 1 247004113 247004113 single base substitution G A synonymous_variant L2301L 6901C>T UCEC-US 1 247004125 247004125 single base substitution G A downstream_gene_variant UCEC-US 1 247004125 247004125 single base substitution G A exon_variant UCEC-US 1 247004125 247004125 single base substitution G A missense_variant R2262C 6784C>T UCEC-US 1 247004125 247004125 single base substitution G A missense_variant R2271C 6811C>T UCEC-US 1 247004125 247004125 single base substitution G A missense_variant R2297C 6889C>T UCEC-US 1 247004236 247004236 single base substitution C T downstream_gene_variant UCEC-US 1 247004236 247004236 single base substitution C T exon_variant UCEC-US 1 247004236 247004236 single base substitution C T missense_variant A2225T 6673G>A UCEC-US 1 247004236 247004236 single base substitution C T missense_variant A2234T 6700G>A UCEC-US 1 247004236 247004236 single base substitution C T missense_variant A2260T 6778G>A UCEC-US 1 247013095 247013095 single base substitution T C downstream_gene_variant UCEC-US 1 247013095 247013095 single base substitution T C exon_variant UCEC-US 1 247013095 247013095 single base substitution T C synonymous_variant E2071E 6213A>G UCEC-US 1 247013095 247013095 single base substitution T C synonymous_variant E2080E 6240A>G UCEC-US 1 247013095 247013095 single base substitution T C synonymous_variant E2106E 6318A>G UCEC-US 1 247013129 247013129 single base substitution G T downstream_gene_variant UCEC-US 1 247013129 247013129 single base substitution G T exon_variant UCEC-US 1 247013129 247013129 single base substitution G T stop_gained S2060* 6179C>A UCEC-US 1 247013129 247013129 single base substitution G T stop_gained S2069* 6206C>A UCEC-US 1 247013129 247013129 single base substitution G T stop_gained S2095* 6284C>A UCEC-US 1 247013191 247013191 single base substitution C T exon_variant UCEC-US 1 247013191 247013191 single base substitution C T synonymous_variant S2039S 6117G>A UCEC-US 1 247013191 247013191 single base substitution C T synonymous_variant S2048S 6144G>A UCEC-US 1 247013191 247013191 single base substitution C T synonymous_variant S2074S 6222G>A UCEC-US 1 247013191 247013191 single base substitution C T upstream_gene_variant UCEC-US 1 247013475 247013475 single base substitution G A exon_variant UCEC-US 1 247013475 247013475 single base substitution G A missense_variant P1945S 5833C>T UCEC-US 1 247013475 247013475 single base substitution G A missense_variant P1954S 5860C>T UCEC-US 1 247013475 247013475 single base substitution G A missense_variant P1980S 5938C>T UCEC-US 1 247013475 247013475 single base substitution G A upstream_gene_variant UCEC-US 1 247013640 247013640 single base substitution C T exon_variant UCEC-US 1 247013640 247013640 single base substitution C T missense_variant D1890N 5668G>A UCEC-US 1 247013640 247013640 single base substitution C T missense_variant D1899N 5695G>A UCEC-US 1 247013640 247013640 single base substitution C T missense_variant D1925N 5773G>A UCEC-US 1 247013640 247013640 single base substitution C T upstream_gene_variant UCEC-US 1 247013926 247013926 single base substitution T C exon_variant UCEC-US 1 247013926 247013926 single base substitution T C synonymous_variant R1794R 5382A>G UCEC-US 1 247013926 247013926 single base substitution T C synonymous_variant R1803R 5409A>G UCEC-US 1 247013926 247013926 single base substitution T C synonymous_variant R1829R 5487A>G UCEC-US 1 247013926 247013926 single base substitution T C upstream_gene_variant UCEC-US 1 247013967 247013967 single base substitution C A exon_variant UCEC-US 1 247013967 247013967 single base substitution C A stop_gained E1781* 5341G>T UCEC-US 1 247013967 247013967 single base substitution C A stop_gained E1790* 5368G>T UCEC-US 1 247013967 247013967 single base substitution C A stop_gained E1816* 5446G>T UCEC-US 1 247013967 247013967 single base substitution C A upstream_gene_variant UCEC-US 1 247014134 247014134 single base substitution G C exon_variant UCEC-US 1 247014134 247014134 single base substitution G C missense_variant T1725S 5174C>G UCEC-US 1 247014134 247014134 single base substitution G C missense_variant T1734S 5201C>G UCEC-US 1 247014134 247014134 single base substitution G C missense_variant T1760S 5279C>G UCEC-US 1 247014134 247014134 single base substitution G C upstream_gene_variant UCEC-US 1 247014690 247014690 single base substitution G T exon_variant UCEC-US 1 247014690 247014690 single base substitution G T missense_variant L1540I 4618C>A UCEC-US 1 247014690 247014690 single base substitution G T missense_variant L1549I 4645C>A UCEC-US 1 247014690 247014690 single base substitution G T missense_variant L1575I 4723C>A UCEC-US 1 247014690 247014690 single base substitution G T upstream_gene_variant UCEC-US 1 247016524 247016524 single base substitution G T exon_variant UCEC-US 1 247016524 247016524 single base substitution G T missense_variant L1478I 4432C>A UCEC-US 1 247016524 247016524 single base substitution G T missense_variant L1487I 4459C>A UCEC-US 1 247016524 247016524 single base substitution G T missense_variant L1513I 4537C>A UCEC-US 1 247016524 247016524 single base substitution G T upstream_gene_variant UCEC-US 1 247016560 247016560 single base substitution T C exon_variant UCEC-US 1 247016560 247016560 single base substitution T C missense_variant T1466A 4396A>G UCEC-US 1 247016560 247016560 single base substitution T C missense_variant T1475A 4423A>G UCEC-US 1 247016560 247016560 single base substitution T C missense_variant T1501A 4501A>G UCEC-US 1 247016560 247016560 single base substitution T C upstream_gene_variant UCEC-US 1 247021041 247021041 single base substitution G A downstream_gene_variant UCEC-US 1 247021041 247021041 single base substitution G A exon_variant UCEC-US 1 247021041 247021041 single base substitution G A missense_variant P1403L 4208C>T UCEC-US 1 247021041 247021041 single base substitution G A missense_variant P1412L 4235C>T UCEC-US 1 247021041 247021041 single base substitution G A missense_variant P1438L 4313C>T UCEC-US 1 247021102 247021102 single base substitution C T downstream_gene_variant UCEC-US 1 247021102 247021102 single base substitution C T exon_variant UCEC-US 1 247021102 247021102 single base substitution C T missense_variant A1383T 4147G>A UCEC-US 1 247021102 247021102 single base substitution C T missense_variant A1392T 4174G>A UCEC-US 1 247021102 247021102 single base substitution C T missense_variant A1418T 4252G>A UCEC-US 1 247024553 247024553 single base substitution T C downstream_gene_variant UCEC-US 1 247024553 247024553 single base substitution T C exon_variant UCEC-US 1 247024553 247024553 single base substitution T C synonymous_variant K1260K 3780A>G UCEC-US 1 247024553 247024553 single base substitution T C synonymous_variant K1269K 3807A>G UCEC-US 1 247024553 247024553 single base substitution T C synonymous_variant K1295K 3885A>G UCEC-US 1 247025322 247025322 single base substitution C T exon_variant UCEC-US 1 247025322 247025322 single base substitution C T missense_variant R1225Q 3674G>A UCEC-US 1 247025322 247025322 single base substitution C T missense_variant R1234Q 3701G>A UCEC-US 1 247025322 247025322 single base substitution C T missense_variant R1260Q 3779G>A UCEC-US 1 247025374 247025374 single base substitution G A exon_variant UCEC-US 1 247025374 247025374 single base substitution G A stop_gained R1208* 3622C>T UCEC-US 1 247025374 247025374 single base substitution G A stop_gained R1217* 3649C>T UCEC-US 1 247025374 247025374 single base substitution G A stop_gained R1243* 3727C>T UCEC-US 1 247025434 247025434 single base substitution A T exon_variant UCEC-US 1 247025434 247025434 single base substitution A T missense_variant S1188T 3562T>A UCEC-US 1 247025434 247025434 single base substitution A T missense_variant S1197T 3589T>A UCEC-US 1 247025434 247025434 single base substitution A T missense_variant S1223T 3667T>A UCEC-US 1 247030633 247030633 single base substitution G T exon_variant UCEC-US 1 247030633 247030633 single base substitution G T missense_variant S1087Y 3260C>A UCEC-US 1 247030633 247030633 single base substitution G T missense_variant S1096Y 3287C>A UCEC-US 1 247030633 247030633 single base substitution G T missense_variant S1122Y 3365C>A UCEC-US 1 247030633 247030633 single base substitution G T upstream_gene_variant UCEC-US 1 247040296 247040296 single base substitution C A exon_variant UCEC-US 1 247040296 247040296 single base substitution C A missense_variant V1000L 2998G>T UCEC-US 1 247040296 247040296 single base substitution C A missense_variant V965L 2893G>T UCEC-US 1 247040296 247040296 single base substitution C A missense_variant V974L 2920G>T UCEC-US 1 247040366 247040366 single base substitution A C exon_variant UCEC-US 1 247040366 247040366 single base substitution A C missense_variant F941L 2823T>G UCEC-US 1 247040366 247040366 single base substitution A C missense_variant F950L 2850T>G UCEC-US 1 247040366 247040366 single base substitution A C missense_variant F976L 2928T>G UCEC-US 1 247048970 247048970 single base substitution G T exon_variant UCEC-US 1 247048970 247048970 single base substitution G T missense_variant L829I 2485C>A UCEC-US 1 247048970 247048970 single base substitution G T missense_variant L838I 2512C>A UCEC-US 1 247048970 247048970 single base substitution G T missense_variant L864I 2590C>A UCEC-US 1 247050591 247050591 single base substitution G T exon_variant UCEC-US 1 247050591 247050591 single base substitution G T missense_variant F798L 2394C>A UCEC-US 1 247050591 247050591 single base substitution G T missense_variant F807L 2421C>A UCEC-US 1 247050591 247050591 single base substitution G T missense_variant F833L 2499C>A UCEC-US 1 247051803 247051803 single base substitution C T exon_variant UCEC-US 1 247051803 247051803 single base substitution C T missense_variant D721N 2161G>A UCEC-US 1 247051803 247051803 single base substitution C T missense_variant D730N 2188G>A UCEC-US 1 247051803 247051803 single base substitution C T missense_variant D756N 2266G>A UCEC-US 1 247055199 247055199 single base substitution C T exon_variant UCEC-US 1 247055199 247055199 single base substitution C T synonymous_variant S609S 1827G>A UCEC-US 1 247055199 247055199 single base substitution C T synonymous_variant S618S 1854G>A UCEC-US 1 247055199 247055199 single base substitution C T synonymous_variant S644S 1932G>A UCEC-US 1 247058023 247058023 single base substitution C T exon_variant UCEC-US 1 247058023 247058023 single base substitution C T missense_variant R581H 1742G>A UCEC-US 1 247058023 247058023 single base substitution C T missense_variant R590H 1769G>A UCEC-US 1 247058023 247058023 single base substitution C T missense_variant R616H 1847G>A UCEC-US 1 247058038 247058038 single base substitution G T exon_variant UCEC-US 1 247058038 247058038 single base substitution G T missense_variant S576Y 1727C>A UCEC-US 1 247058038 247058038 single base substitution G T missense_variant S585Y 1754C>A UCEC-US 1 247058038 247058038 single base substitution G T missense_variant S611Y 1832C>A UCEC-US 1 247063645 247063645 single base substitution G A missense_variant S415L 1244C>T UCEC-US 1 247063645 247063645 single base substitution G A missense_variant S424L 1271C>T UCEC-US 1 247063645 247063645 single base substitution G A missense_variant S450L 1349C>T UCEC-US 1 247063645 247063645 single base substitution G A upstream_gene_variant UCEC-US 1 247068848 247068848 single base substitution T C synonymous_variant Q292Q 876A>G UCEC-US 1 247068848 247068848 single base substitution T C synonymous_variant Q301Q 903A>G UCEC-US 1 247068848 247068848 single base substitution T C synonymous_variant Q327Q 981A>G UCEC-US 1 247079561 247079561 single base substitution G T downstream_gene_variant UCEC-US 1 247079561 247079561 single base substitution G T missense_variant F121L 363C>A UCEC-US 1 247079561 247079561 single base substitution G T missense_variant F86L 258C>A UCEC-US 1 247079561 247079561 single base substitution G T missense_variant F95L 285C>A UCEC-US 1 247079624 247079624 single base substitution C T synonymous_variant L100L 300G>A UCEC-US 1 247079624 247079624 single base substitution C T synonymous_variant L65L 195G>A UCEC-US 1 247079624 247079624 single base substitution C T synonymous_variant L74L 222G>A UCEC-US 1 247081595 247081595 single base substitution G A synonymous_variant D26D 78C>T UCEC-US 1 247081595 247081595 single base substitution G A synonymous_variant D35D 105C>T UCEC-US 1 247081595 247081595 single base substitution G A synonymous_variant D61D 183C>T UCEC-US 1 247081635 247081635 single base substitution A G missense_variant L13P 38T>C UCEC-US 1 247081635 247081635 single base substitution A G missense_variant L22P 65T>C UCEC-US 1 247081635 247081635 single base substitution A G missense_variant L48P 143T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DR-A0ZM-01 COSM459499 c.1300G>C p.E434Q Substitution - Missense 1:246900197-246900197 - TCGA-BR-8591-01 COSM4030482 c.4717A>G p.T1573A Substitution - Missense 1:246851289-246851289 - ESCC_BICR_027T COSM5443173 c.6526-1G>A p.? Unknown 1:246842777-246842777 - Pat_41_B COSM5846088 c.5959G>A p.G1987R Substitution - Missense 1:246850047-246850047 - TCGA-ED-A7PZ-01 COSM4916806 c.5556A>T p.P1852P Substitution - coding silent 1:246850450-246850450 - pfg120T COSM4764963 c.3379C>T p.R1127W Substitution - Missense 1:246864085-246864085 - TCGA-AA-A010-01 COSM299049 c.4257-6C>T p.? Unknown 1:246855833-246855833 - T3724 COSM4660460 c.6379A>C p.R2127R Substitution - coding silent 1:246849627-246849627 - TCGA-CG-5721-01 COSM4030481 c.5640A>G p.E1880E Substitution - coding silent 1:246850366-246850366 - BN49 COSM1602055 c.1266A>G p.L422L Substitution - coding silent 1:246900231-246900231 - 48 COSM5010766 c.5910A>G p.I1970M Substitution - Missense 1:246850096-246850096 - TCGA-G9-6363-01 COSM1127067 c.4932C>G p.A1644A Substitution - coding silent 1:246851074-246851074 - YUKAT COSM5380345 c.1261T>C p.Y421H Substitution - Missense 1:246900236-246900236 - TCGA-CF-A1HR-01 COSM414528 c.2131G>C p.E711Q Substitution - Missense 1:246889979-246889979 - C086 COSM5526429 c.2362C>T p.P788S Substitution - Missense 1:246887321-246887321 - B98 COSM1748284 c.3010C>T p.L1004F Substitution - Missense 1:246876115-246876115 - Gp5D COSM2052306 c.396A>G p.I132M Substitution - Missense 1:246913392-246913392 - ATL029 COSM5705367 c.6148A>G p.K2050E Substitution - Missense 1:246849858-246849858 - TCGA-AP-A0LM-01 COSM906905 c.2394C>A p.F798L Substitution - Missense 1:246887289-246887289 - Pat_16_B COSM5846087 c.6357T>G p.F2119L Substitution - Missense 1:246849649-246849649 - 587350 COSM1182259 c.1741C>T p.R581C Substitution - Missense 1:246894722-246894722 - HCC108T COSM1602053 c.6437A>T p.D2146V Substitution - Missense 1:246843883-246843883 - sysucc-834T COSM5485607 c.6665C>T p.S2222F Substitution - Missense 1:246840942-246840942 - TCGA-CA-6717-01 COSM1340925 c.521A>G p.D174G Substitution - Missense 1:246913267-246913267 - TCGA-EK-A3GK-01 COSM4853364 c.1087C>T p.H363Y Substitution - Missense 1:246902555-246902555 - TCGA-D1-A103-01 COSM906917 c.78C>T p.D26D Substitution - coding silent 1:246918293-246918293 - TCGA-FD-A3SN-01 COSM3789765 c.3868G>A p.E1290K Substitution - Missense 1:246861163-246861163 - TCGA-EE-A3AA-06 COSM3486531 c.46C>T p.P16S Substitution - Missense 1:246918325-246918325 - TARGET-30-PASAZJ-01A-01W COSM1283317 c.4882T>A p.C1628S Substitution - Missense 1:246851124-246851124 - 1604875 COSM140980 c.2937+1G>A p.? Unknown 1:246876949-246876949 - TCGA-A8-A09Z-01 COSM2052243 c.3975G>A p.P1325P Substitution - coding silent 1:246861056-246861056 - TCGA-BF-A1PZ-01 COSM4399336 c.6067G>T p.G2023* Substitution - Nonsense 1:246849939-246849939 - TCGA-AG-3902-01 COSM258759 c.883G>A p.E295K Substitution - Missense 1:246904032-246904032 - TCGA-DR-A0ZM-01 COSM459501 c.5039G>C p.R1680T Substitution - Missense 1:246850967-246850967 - Pat_16_A COSM5846087 c.6357T>G p.F2119L Substitution - Missense 1:246849649-246849649 - TCGA-FI-A2F8-01 COSM906885 c.6117G>A p.S2039S Substitution - coding silent 1:246849889-246849889 - SNU-C4 COSM4652250 c.3557C>T p.A1186V Substitution - Missense 1:246862137-246862137 - TCGA-FW-A3R5-06 COSM3865036 c.1382C>T p.P461L Substitution - Missense 1:246900115-246900115 - 13280 COSM5613967 c.5816G>C p.R1939T Substitution - Missense 1:246850190-246850190 - TCGA-60-2720-01 COSM679546 c.3706G>C p.E1236Q Substitution - Missense 1:246861988-246861988 - HCC2998 COSM1668631 c.2783T>G p.L928* Substitution - Nonsense 1:246877180-246877180 - YUKAT COSM5380336 c.3724T>C p.W1242R Substitution - Missense 1:246861970-246861970 - PD9585a COSM5779575 c.3550A>T p.S1184C Substitution - Missense 1:246862144-246862144 - TCGA-D3-A1QA-06 COSM3486525 c.2859C>T p.F953F Substitution - coding silent 1:246877028-246877028 - CHC1148T COSM4954789 c.4011C>A p.A1337A Substitution - coding silent 1:246861020-246861020 - PT46 COSM3486528 c.1081C>T p.R361* Substitution - Nonsense 1:246902561-246902561 - TCGA-AP-A051-01 COSM906880 c.6796C>T p.L2266L Substitution - coding silent 1:246840811-246840811 - TCGA-AX-A060-01 COSM906908 c.1742G>A p.R581H Substitution - Missense 1:246894721-246894721 - TCGA-AP-A0LM-01 COSM906901 c.3260C>A p.S1087Y Substitution - Missense 1:246867331-246867331 - HCA7 COSM210670 c.625C>T p.R209C Substitution - Missense 1:246907690-246907690 - ESCC-070T COSM3934614 c.2716G>T p.E906* Substitution - Nonsense 1:246877247-246877247 - S02273 COSM5681452 c.4933G>T p.V1645L Substitution - Missense 1:246851073-246851073 - TCGA-D8-A1XQ-01 COSM3804670 c.2441G>C p.G814A Substitution - Missense 1:246887242-246887242 - QC2-09-T2 COSM5652094 c.2663G>C p.C888S Substitution - Missense 1:246877300-246877300 - TCGA-AX-A05Z-01 COSM906891 c.4618C>A p.L1540I Substitution - Missense 1:246851388-246851388 - TCGA-B5-A0JY-01 COSM906903 c.2823T>G p.F941L Substitution - Missense 1:246877064-246877064 - LUAD-S01345 COSM397105 c.3367C>T p.Q1123* Substitution - Nonsense 1:246864097-246864097 - TCGA-AX-A05Z-01 COSM906918 c.38T>C p.L13P Substitution - Missense 1:246918333-246918333 - LUAD-RT-S01777 COSM381784 c.6336A>C p.E2112D Substitution - Missense 1:246849670-246849670 - 2492701 COSM5716683 c.1584C>T p.S528S Substitution - coding silent 1:246898247-246898247 - PTC-7C COSM3751079 c.2621A>G p.N874S Substitution - Missense 1:246885532-246885532 - HCC2998 COSM1668631 c.2783T>G p.L928* Substitution - Nonsense 1:246877180-246877180 - HCC2998 COSM2052278 c.1836C>A p.F612L Substitution - Missense 1:246891888-246891888 - HCC170T COSM3705707 c.2051-9A>C p.? Unknown 1:246890068-246890068 - CSCC-10-T COSM4452468 c.1869A>T p.Q623H Substitution - Missense 1:246891855-246891855 - PT34 COSM210668 c.1124C>T p.S375L Substitution - Missense 1:246900463-246900463 - TCGA-AN-A046-01 COSM3804672 c.449G>A p.R150Q Substitution - Missense 1:246913339-246913339 - B98-Tumor COSM1748284 c.3010C>T p.L1004F Substitution - Missense 1:246876115-246876115 - B105-0 COSM210668 c.1124C>T p.S375L Substitution - Missense 1:246900463-246900463 - TCGA-BR-8372-01 COSM4030483 c.4178A>G p.E1393G Substitution - Missense 1:246857769-246857769 - TCGA-IZ-8196-01 COSM3984905 c.622G>A p.G208R Substitution - Missense 1:246907693-246907693 - 07-058 COSM3735962 c.5765A>G p.D1922G Substitution - Missense 1:246850241-246850241 - 12T COSM107675 c.1786G>A p.E596K Substitution - Missense 1:246894677-246894677 - Gp2D COSM2052290 c.1476T>C p.C492C Substitution - coding silent 1:246899469-246899469 - 282-01-12TD COSM5419343 c.4060delC p.Q1354fs*15 Deletion - Frameshift 1:246860971-246860971 - CHC433T COSM250832 c.764+1G>T p.? Unknown 1:246907550-246907550 - 260211 COSM3725555 c.1855C>T p.Q619* Substitution - Nonsense 1:246891869-246891869 - PD4937a COSM158969 c.2124G>A p.Q708Q Substitution - coding silent 1:246889986-246889986 - LUAD-NYU1021 COSM367990 c.3242C>T p.S1081F Substitution - Missense 1:246867349-246867349 - LS180 COSM2052189 c.6491delA p.N2164fs*12 Deletion - Frameshift 1:246843829-246843829 - TCGA-BR-4361-01 COSM4030480 c.6341A>G p.N2114S Substitution - Missense 1:246849665-246849665 - PD8623a COSM5772443 c.2049A>C p.I683I Substitution - coding silent 1:246890957-246890957 - LS411 COSM2052189 c.6491delA p.N2164fs*12 Deletion - Frameshift 1:246843829-246843829 - HCC78T COSM1602057 c.1036A>G p.T346A Substitution - Missense 1:246902606-246902606 - 134413 COSM318599 c.6609-1G>T p.? Unknown 1:246840999-246840999 - ccRCC-56 COSM1665334 c.5047_5050delGAAA p.E1683fs*16 Deletion - Frameshift 1:246850956-246850959 - TCGA-66-2766-01 COSM679548 c.3865C>G p.Q1289E Substitution - Missense 1:246861166-246861166 - Gp2D COSM2052306 c.396A>G p.I132M Substitution - Missense 1:246913392-246913392 - C0068T COSM4165123 c.1058G>A p.G353E Substitution - Missense 1:246902584-246902584 - SJOS005_D COSM5023970 c.3382C>T p.P1128S Substitution - Missense 1:246864082-246864082 - TCGA-DA-A1I7-06 COSM3486528 c.1081C>T p.R361* Substitution - Nonsense 1:246902561-246902561 - L01 COSM5368416 c.6254delT p.L2085fs*50 Deletion - Frameshift 1:246849752-246849752 - TCGA-EA-A5O9-01 COSM4851966 c.3178T>C p.S1060P Substitution - Missense 1:246867722-246867722 - CPCG0183-P1 COSM3396161 c.448C>T p.R150* Substitution - Nonsense 1:246913340-246913340 - RMS2001 COSM5880391 c.5491delC p.Q1831fs*14 Deletion - Frameshift 1:246850515-246850515 - B34-Tumor COSM1748285 c.2919T>C p.T973T Substitution - coding silent 1:246876968-246876968 - pfg416T COSM4764962 c.6525+1G>A p.? Unknown 1:246843794-246843794 - TCGA-AP-A059-01 COSM906886 c.5833C>T p.P1945S Substitution - Missense 1:246850173-246850173 - QC2-32-T2 COSM3751078 c.4007C>T p.T1336M Substitution - Missense 1:246861024-246861024 - TCGA-BH-A0BC-01 COSM425855 c.223G>T p.E75* Substitution - Nonsense 1:246916294-246916294 - TCGA-D1-A17Q-01 COSM906904 c.2485C>A p.L829I Substitution - Missense 1:246885668-246885668 - TCGA-ER-A19P-06 COSM3486527 c.1354G>T p.E452* Substitution - Nonsense 1:246900143-246900143 - TCGA-E2-A1IF-01 COSM1185810 c.4378G>A p.G1460S Substitution - Missense 1:246853276-246853276 - BN24T COSM1602052 c.6609-4delT p.? Unknown 1:246841002-246841002 - TCGA-34-2600-01 COSM679541 c.528A>G p.S176S Substitution - coding silent 1:246913260-246913260 - PD4602a COSM158968 c.5718G>T p.L1906F Substitution - Missense 1:246850288-246850288 - TCGA-CZ-5985-01 COSM464273 c.13A>C p.R5R Substitution - coding silent 1:246918358-246918358 - T3535 COSM4660469 c.73G>T p.E25* Substitution - Nonsense 1:246918298-246918298 - LAU165 COSM231729 c.6575G>A p.R2192Q Substitution - Missense 1:246842727-246842727 - 2250149 COSM5030399 c.1666A>T p.S556C Substitution - Missense 1:246895883-246895883 - 1N44-VS-1T44 COSM4975720 c.1593delT p.F531fs*9 Deletion - Frameshift 1:246898238-246898238 - T1154 COSM4660467 c.1908C>T p.S636S Substitution - coding silent 1:246891816-246891816 - SNU-175 COSM2052252 c.3340_3341insA p.I1114fs*3 Insertion - Frameshift 1:246867250-246867251 - I2L-P7-Tumor-Organoid COSM5352574 c.1433-3delT p.? Unknown 1:246899515-246899515 - CHC433T COSM250832 c.764+1G>T p.? Unknown 1:246907550-246907550 - CSCC-11-T COSM4486364 c.3014C>T p.P1005L Substitution - Missense 1:246876111-246876111 - DLD1 COSM4622625 c.4471G>T p.E1491* Substitution - Nonsense 1:246853183-246853183 - 44_T COSM3977390 c.1768A>T p.K590* Substitution - Nonsense 1:246894695-246894695 - TCGA-13-0887-01 COSM73617 c.4232T>A p.L1411H Substitution - Missense 1:246857715-246857715 - Gp5D COSM2052290 c.1476T>C p.C492C Substitution - coding silent 1:246899469-246899469 - BD72T COSM5511674 c.764A>G p.E255G Substitution - Missense 1:246907551-246907551 - ASHPC_0011_Pa_P COSM906906 c.2161G>A p.D721N Substitution - Missense 1:246888501-246888501 - TCGA-AP-A0LM-01 COSM906907 c.1827G>A p.S609S Substitution - coding silent 1:246891897-246891897 - pfg143T COSM4764964 c.2119C>T p.R707* Substitution - Nonsense 1:246889991-246889991 - CHC1191T COSM4799717 c.6785G>A p.R2262H Substitution - Missense 1:246840822-246840822 - CN-AML-CR-50-Dx COSM5428458 c.5219G>C p.R1740P Substitution - Missense 1:246850787-246850787 - sysucc-1370T COSM5470017 c.5198A>G p.D1733G Substitution - Missense 1:246850808-246850808 - TCGA-FS-A1ZW-06 COSM210668 c.1124C>T p.S375L Substitution - Missense 1:246900463-246900463 - PTC-14C COSM4143626 c.2966G>T p.R989I Substitution - Missense 1:246876159-246876159 - TCGA-AC-A23H-01 COSM3804663 c.6747C>T p.N2249N Substitution - coding silent 1:246840860-246840860 - TCGA-E9-A1R7-01 COSM1473742 c.6429A>C p.L2143F Substitution - Missense 1:246843891-246843891 - B54-Tumor COSM1748283 c.6759G>A p.L2253L Substitution - coding silent 1:246840848-246840848 - HT115 COSM210670 c.625C>T p.R209C Substitution - Missense 1:246907690-246907690 - LUAD-S01409 COSM346580 c.5305G>T p.G1769W Substitution - Missense 1:246850701-246850701 - HCC145T COSM5811421 c.343A>G p.K115E Substitution - Missense 1:246916174-246916174 - T263 COSM4660462 c.4743A>G p.V1581V Substitution - coding silent 1:246851263-246851263 - TCGA-66-2777-01 COSM679543 c.2051A>G p.D684G Substitution - Missense 1:246890059-246890059 - TCGA-CA-6717-01 COSM1340913 c.4856A>G p.N1619S Substitution - Missense 1:246851150-246851150 - TCGA-AZ-4315-01 COSM1340926 c.499C>A p.L167I Substitution - Missense 1:246913289-246913289 - LC_C26 COSM1185810 c.4378G>A p.G1460S Substitution - Missense 1:246853276-246853276 - T2269 COSM4660463 c.3833C>A p.S1278Y Substitution - Missense 1:246861198-246861198 - ESCC_52 COSM5631122 c.4208C>G p.P1403R Substitution - Missense 1:246857739-246857739 - TCGA-F5-6814-01 COSM3419018 c.6116C>T p.S2039L Substitution - Missense 1:246849890-246849890 - OST202PT COSM1732226 c.3446G>A p.R1149H Substitution - Missense 1:246864018-246864018 - 587256 COSM1180721 c.4758delT p.F1586fs*9 Deletion - Frameshift 1:246851248-246851248 - B107-Tumor COSM1748286 c.1921G>A p.E641K Substitution - Missense 1:246891803-246891803 - TCGA-AM-5821-01 COSM3751079 c.2621A>G p.N874S Substitution - Missense 1:246885532-246885532 - ccRCC-41 COSM1660445 c.1660C>G p.Q554E Substitution - Missense 1:246895889-246895889 - TCGA-BK-A0CA-01 COSM906895 c.4164C>T p.L1388L Substitution - coding silent 1:246857783-246857783 - YUKAT COSM5380338 c.1764G>A p.W588* Substitution - Nonsense 1:246894699-246894699 - BZ11 COSM5758156 c.1207G>A p.D403N Substitution - Missense 1:246900380-246900380 - TCGA-BS-A0UV-01 COSM906915 c.258C>A p.F86L Substitution - Missense 1:246916259-246916259 - YUKAT COSM5380337 c.1915G>A p.A639T Substitution - Missense 1:246891809-246891809 - 2293764 COSM4609673 c.4601_4603delGAG p.G1534delG Deletion - In frame 1:246851403-246851405 - SNUH_G76_S1 COSM3997386 c.6553C>G p.L2185V Substitution - Missense 1:246842749-246842749 - PCSI_0355_Pa_P_526 COSM906906 c.2161G>A p.D721N Substitution - Missense 1:246888501-246888501 - TCGA-AM-5820-01 COSM3751078 c.4007C>T p.T1336M Substitution - Missense 1:246861024-246861024 - TCGA-B0-5400-01 COSM464272 c.462A>G p.G154G Substitution - coding silent 1:246913326-246913326 - B34 COSM1748285 c.2919T>C p.T973T Substitution - coding silent 1:246876968-246876968 - TCGA-EA-A3QE-01 COSM4843556 c.919G>A p.A307T Substitution - Missense 1:246903996-246903996 - CSCC-27-T COSM4480483 c.2396C>T p.P799L Substitution - Missense 1:246887287-246887287 - Gp5D COSM2052192 c.6435G>A p.S2145S Substitution - coding silent 1:246843885-246843885 - TCGA-AX-A063-01 COSM906883 c.6213A>G p.E2071E Substitution - coding silent 1:246849793-246849793 - PT13 COSM5895449 c.3445C>T p.R1149C Substitution - Missense 1:246864019-246864019 - LUAD-CHTN-MAD06-00668 COSM391301 c.1293_1294insA p.S432fs*8 Insertion - Frameshift 1:246900203-246900204 - TCGA-BT-A20O-01 COSM414527 c.2117G>A p.R706H Substitution - Missense 1:246889993-246889993 - I2L-P7-Tumor-Organoid COSM5353682 c.6059T>A p.V2020D Substitution - Missense 1:246849947-246849947 - B105-0-Tumor COSM210668 c.1124C>T p.S375L Substitution - Missense 1:246900463-246900463 - ZZUFHECRKL-G033T COSM5437606 c.5998A>G p.K2000E Substitution - Missense 1:246850008-246850008 - TCGA-F5-6864-01 COSM5080637 c.6400_6401insA p.I2134fs*35 Insertion - Frameshift 1:246843919-246843920 - 76629543 COSM1582230 c.1414C>G p.P472A Substitution - Missense 1:246900083-246900083 - TCGA-UC-A7PF-01 COSM4830054 c.6017G>C p.R2006T Substitution - Missense 1:246849989-246849989 - TCGA-B0-5098-01 COSM1492011 c.3889A>G p.S1297G Substitution - Missense 1:246861142-246861142 - 52T COSM3718403 c.1964A>G p.N655S Substitution - Missense 1:246891042-246891042 - cSCCP8 COSM140406 c.4489C>A p.L1497I Substitution - Missense 1:246853165-246853165 - TCGA-AP-A059-01 COSM906909 c.1727C>A p.S576Y Substitution - Missense 1:246894736-246894736 - TCGA-BR-8363-01 COSM4030487 c.1457G>A p.G486E Substitution - Missense 1:246899488-246899488 - T3091 COSM4660466 c.2073delG p.R691fs*8 Deletion - Frameshift 1:246890037-246890037 - TCGA-AG-A02N-01 COSM5074282 c.6491_6492insA p.N2164fs*5 Insertion - Frameshift 1:246843828-246843829 - TCGA-GN-A267-06 COSM3486530 c.316C>T p.L106F Substitution - Missense 1:246916201-246916201 - sysucc-1397T COSM1639786 c.4340C>T p.A1447V Substitution - Missense 1:246855744-246855744 - sysucc-880T COSM5462226 c.939T>C p.C313C Substitution - coding silent 1:246903976-246903976 - CRC-19T COSM5481047 c.1015A>G p.M339V Substitution - Missense 1:246902627-246902627 - cSCCP1 COSM143442 c.3941_3942CC>TT p.S1314F Substitution - Missense 1:246861089-246861090 - tumor_4107137 COSM3356553 c.5743G>T p.E1915* Substitution - Nonsense 1:246850263-246850263 - TCGA-D9-A3Z3-06 COSM3486520 c.6290G>A p.S2097N Substitution - Missense 1:246849716-246849716 - TCGA-HF-7136-01 COSM4030478 c.6656G>A p.R2219Q Substitution - Missense 1:246840951-246840951 - TCGA-29-2427-01 COSM69579 c.253G>A p.E85K Substitution - Missense 1:246916264-246916264 - ESCC_57 COSM5649741 c.2357C>T p.S786F Substitution - Missense 1:246887326-246887326 - LUAD-RT-S01818 COSM383776 c.4537A>T p.S1513C Substitution - Missense 1:246853117-246853117 - 8015299 COSM3771679 c.2298C>T p.G766G Substitution - coding silent 1:246888204-246888204 - CT-TC COSM4989382 c.4294G>A p.D1432N Substitution - Missense 1:246855790-246855790 - TCGA-E2-A150-01 COSM425849 c.5197G>T p.D1733Y Substitution - Missense 1:246850809-246850809 - TCGA-A2-A0D2-01 COSM425850 c.4839G>C p.V1613V Substitution - coding silent 1:246851167-246851167 - STC291 COSM5053322 c.5791C>T p.R1931C Substitution - Missense 1:246850215-246850215 - DN110CD COSM5963183 c.5764G>A p.D1922N Substitution - Missense 1:246850242-246850242 - HCC78 COSM1602057 c.1036A>G p.T346A Substitution - Missense 1:246902606-246902606 - RK190_C01 COSM3741159 c.4564-7C>A p.? Unknown 1:246851449-246851449 - TCGA-B5-A11E-01 COSM906904 c.2485C>A p.L829I Substitution - Missense 1:246885668-246885668 - SW480 COSM4655602 c.2331T>G p.I777M Substitution - Missense 1:246887352-246887352 - TCGA-C8-A1HM-01 COSM425854 c.897G>C p.L299F Substitution - Missense 1:246904018-246904018 - TCGA-22-5491-01 COSM679551 c.6575G>T p.R2192L Substitution - Missense 1:246842727-246842727 - TCGA-DR-A0ZM-01 COSM459500 c.4072G>C p.D1358H Substitution - Missense 1:246860959-246860959 - pfg009T COSM1639786 c.4340C>T p.A1447V Substitution - Missense 1:246855744-246855744 - TCGA-AA-A01I-01 COSM301518 c.3055_3056TA>GG p.Y1019>? Complex 1:246876069-246876070 - LS174T COSM2052189 c.6491delA p.N2164fs*12 Deletion - Frameshift 1:246843829-246843829 - TCGA-BR-8487-01 COSM2052243 c.3975G>A p.P1325P Substitution - coding silent 1:246861056-246861056 - CSCC-11-T COSM4569649 c.1892T>C p.L631P Substitution - Missense 1:246891832-246891832 - 16461 COSM5613969 c.1708A>T p.T570S Substitution - Missense 1:246895841-246895841 - TCGA-CG-5721-01 COSM4030485 c.2299G>A p.V767I Substitution - Missense 1:246888203-246888203 - T3301 COSM4660465 c.2769A>G p.E923E Substitution - coding silent 1:246877194-246877194 - TCGA-AP-A0LM-01 COSM906892 c.4432C>A p.L1478I Substitution - Missense 1:246853222-246853222 - LUAD-E00918 COSM364949 c.4098A>G p.S1366S Substitution - coding silent 1:246860933-246860933 - PD9842a COSM5772724 c.6611A>G p.N2204S Substitution - Missense 1:246840996-246840996 - OSCC-GB_00520111 COSM3718403 c.1964A>G p.N655S Substitution - Missense 1:246891042-246891042 - T3225 COSM414527 c.2117G>A p.R706H Substitution - Missense 1:246889993-246889993 - TCGA-BP-4164-01 COSM1134866 c.2253T>C p.P751P Substitution - coding silent 1:246888409-246888409 - TCGA-AC-A23H-01 COSM3804665 c.6196G>C p.E2066Q Substitution - Missense 1:246849810-246849810 - TCGA-AC-A23H-01 COSM3804666 c.3619C>G p.L1207V Substitution - Missense 1:246862075-246862075 - HCC017T COSM5815191 c.1569A>T p.V523V Substitution - coding silent 1:246898262-246898262 - LUAD-YINHD COSM350022 c.311G>C p.S104T Substitution - Missense 1:246916206-246916206 - CHC892T COSM4797929 c.6067G>A p.G2023R Substitution - Missense 1:246849939-246849939 - TCGA-B0-4706-01 COSM464270 c.3145T>C p.L1049L Substitution - coding silent 1:246867755-246867755 - LUAD-YINHD COSM350021 c.6011G>C p.S2004T Substitution - Missense 1:246849995-246849995 - TCGA-HU-A4H4-01 COSM4030488 c.1294T>C p.S432P Substitution - Missense 1:246900203-246900203 - ESO-887 COSM1244666 c.1683G>C p.L561F Substitution - Missense 1:246895866-246895866 - HCC136T COSM1602056 c.1117+8A>G p.? Unknown 1:246902517-246902517 - RK004_C01 COSM1626957 c.6760T>G p.S2254A Substitution - Missense 1:246840847-246840847 - Gp5D COSM2052256 c.3096A>C p.R1032S Substitution - Missense 1:246867804-246867804 - OSCC-GB_00230111 COSM3710886 c.804T>A p.Y268* Substitution - Nonsense 1:246905618-246905618 - 435 COSM4433798 c.5G>A p.R2Q Substitution - Missense 1:246918366-246918366 - SNUH_G45_S1 COSM3997386 c.6553C>G p.L2185V Substitution - Missense 1:246842749-246842749 - LUAD-CHTN-MAD06-00668 COSM358369 c.1098G>T p.R366S Substitution - Missense 1:246902544-246902544 - TCGA-A1-A0SH-01 COSM425851 c.2752G>T p.E918* Substitution - Nonsense 1:246877211-246877211 - TCGA-BS-A0UJ-01 COSM906893 c.4396A>G p.T1466A Substitution - Missense 1:246853258-246853258 - TCGA-EI-6917-01 COSM3419019 c.5780A>G p.D1927G Substitution - Missense 1:246850226-246850226 - TCGA-AP-A051-01 COSM906891 c.4618C>A p.L1540I Substitution - Missense 1:246851388-246851388 - TCGA-BR-4369-01 COSM4030486 c.1965T>C p.N655N Substitution - coding silent 1:246891041-246891041 - T2269 COSM4660468 c.1216C>T p.R406C Substitution - Missense 1:246900371-246900371 - CHC1191T COSM4799717 c.6785G>A p.R2262H Substitution - Missense 1:246840822-246840822 - 2492700 COSM5716683 c.1584C>T p.S528S Substitution - coding silent 1:246898247-246898247 - 587376 COSM1182261 c.2011C>A p.L671I Substitution - Missense 1:246890995-246890995 - LUAD_E00945 COSM389883 c.1224T>C p.Y408Y Substitution - coding silent 1:246900363-246900363 - TCGA-D1-A103-01 COSM906882 c.6673G>A p.A2225T Substitution - Missense 1:246840934-246840934 - TCGA-ER-A3PL-06 COSM3486522 c.5207C>T p.S1736F Substitution - Missense 1:246850799-246850799 - HCC108 COSM1602053 c.6437A>T p.D2146V Substitution - Missense 1:246843883-246843883 - TCGA-AR-A1AL-01 COSM425852 c.1163A>C p.N388T Substitution - Missense 1:246900424-246900424 - RK051_C01 COSM1626958 c.460G>T p.G154* Substitution - Nonsense 1:246913328-246913328 - S01861 COSM5670922 c.4355-2A>T p.? Unknown 1:246853301-246853301 - CCC2 COSM3705708 c.1433-10T>A p.? Unknown 1:246899522-246899522 - TCGA-DD-A73E-01 COSM4912980 c.3782G>T p.C1261F Substitution - Missense 1:246861249-246861249 - TCGA-A2-A0T0-01 COSM425853 c.935A>T p.K312M Substitution - Missense 1:246903980-246903980 - TCGA-RP-A695-06 COSM4896982 c.2882G>A p.R961H Substitution - Missense 1:246877005-246877005 - HCC136 COSM1602056 c.1117+8A>G p.? Unknown 1:246902517-246902517 - BD72T COSM5511673 c.6688G>A p.G2230R Substitution - Missense 1:246840919-246840919 - ACINAR27 COSM1734036 c.881G>C p.S294T Substitution - Missense 1:246905541-246905541 - LAU165 COSM231728 c.6410C>T p.P2137L Substitution - Missense 1:246843910-246843910 - TCGA-B5-A11N-01 COSM906881 c.6784C>T p.R2262C Substitution - Missense 1:246840823-246840823 - BZ11 COSM5758158 c.918G>A p.L306L Substitution - coding silent 1:246903997-246903997 - CCC2T COSM3705708 c.1433-10T>A p.? Unknown 1:246899522-246899522 - MO_1337 COSM5554083 c.639C>T p.F213F Substitution - coding silent 1:246907676-246907676 - TCGA-F5-6813-01 COSM5080447 c.3824G>A p.R1275K Substitution - Missense 1:246861207-246861207 - TCGA-DK-A1AG-01 COSM1296129 c.1799G>C p.R600T Substitution - Missense 1:246894664-246894664 - 3844_T COSM3977387 c.6354A>C p.L2118F Substitution - Missense 1:246849652-246849652 - 35M COSM4484960 c.2851C>T p.H951Y Substitution - Missense 1:246877036-246877036 - TCGA-EK-A2PM-01 COSM4831526 c.1390C>G p.P464A Substitution - Missense 1:246900107-246900107 - TCGA-AZ-5407-01 COSM1340911 c.6365C>T p.A2122V Substitution - Missense 1:246849641-246849641 - CPCG_0183_Pr_P_P3 COSM3396161 c.448C>T p.R150* Substitution - Nonsense 1:246913340-246913340 - TCGA-B5-A0K9-01 COSM906911 c.1481G>A p.G494D Substitution - Missense 1:246899464-246899464 - TCGA-AP-A059-01 COSM906914 c.876A>G p.Q292Q Substitution - coding silent 1:246905546-246905546 - AOCS-162-1-1 COSM3943789 c.740G>C p.W247S Substitution - Missense 1:246907575-246907575 - 3006_T COSM3977389 c.3668C>T p.P1223L Substitution - Missense 1:246862026-246862026 - TCGA-AO-A12E-01 COSM3804671 c.1694T>G p.I565S Substitution - Missense 1:246895855-246895855 - NPC3D COSM4995426 c.3472A>T p.K1158* Substitution - Nonsense 1:246863992-246863992 - OSCC-GB_01120111 COSM4884765 c.6293G>T p.R2098M Substitution - Missense 1:246849713-246849713 - TCGA-61-1722-01 COSM1320282 c.2941G>C p.D981H Substitution - Missense 1:246876184-246876184 - TCGA-D8-A1Y1-01 COSM1473744 c.2070A>G p.S690S Substitution - coding silent 1:246890040-246890040 - 2492729 COSM5728144 c.3665C>T p.S1222F Substitution - Missense 1:246862029-246862029 - TCGA-D1-A103-01 COSM906916 c.195G>A p.L65L Substitution - coding silent 1:246916322-246916322 - 2275_T COSM3977392 c.664G>C p.A222P Substitution - Missense 1:246907651-246907651 - LUAD_E00565 COSM388913 c.5702G>C p.R1901T Substitution - Missense 1:246850304-246850304 - TCGA-BS-A0UV-01 COSM906913 c.1244C>T p.S415L Substitution - Missense 1:246900343-246900343 - LIM2405 COSM4613325 c.3309delT p.F1103fs*16 Deletion - Frameshift 1:246867282-246867282 - TCGA-BS-A0UF-01 COSM906889 c.5341G>T p.E1781* Substitution - Nonsense 1:246850665-246850665 - 23T COSM3710886 c.804T>A p.Y268* Substitution - Nonsense 1:246905618-246905618 - CSCC-60-T COSM4572020 c.6178T>C p.S2060P Substitution - Missense 1:246849828-246849828 - TCGA-AP-A059-01 COSM906894 c.4208C>T p.P1403L Substitution - Missense 1:246857739-246857739 - TCGA-EK-A2RD-01 COSM4820233 c.4452G>A p.L1484L Substitution - coding silent 1:246853202-246853202 - 01-P034 COSM4577117 c.3373G>A p.V1125I Substitution - Missense 1:246864091-246864091 - PDA_041 COSM5000243 c.5136A>C p.K1712N Substitution - Missense 1:246850870-246850870 - TCGA-B5-A11E-01 COSM906899 c.3622C>T p.R1208* Substitution - Nonsense 1:246862072-246862072 - BD135T COSM5516196 c.3577G>A p.G1193R Substitution - Missense 1:246862117-246862117 - BICR_22 COSM2052223 c.5021A>G p.D1674G Substitution - Missense 1:246850985-246850985 - SJHGG060_A COSM4971146 c.1645T>G p.L549V Substitution - Missense 1:246895904-246895904 - S0004 COSM5881704 c.1799G>A p.R600K Substitution - Missense 1:246894664-246894664 - ESO-175 COSM1244664 c.3338A>C p.K1113T Substitution - Missense 1:246867253-246867253 - NPC15F COSM4995425 c.4900A>G p.N1634D Substitution - Missense 1:246851106-246851106 - T1 COSM5618667 c.921C>G p.A307A Substitution - coding silent 1:246903994-246903994 - 0004_CRUK_PC_0004_T1_DNA COSM5422472 c.526T>G p.S176A Substitution - Missense 1:246913262-246913262 - TCGA-13-0886-01 COSM69578 c.3544G>T p.A1182S Substitution - Missense 1:246862150-246862150 - PAPNNX COSM5004860 c.6105C>T p.N2035N Substitution - coding silent 1:246849901-246849901 - TCGA-29-1775-01 COSM1320283 c.6539A>C p.Q2180P Substitution - Missense 1:246842763-246842763 - PD7217a COSM5797379 c.4405G>T p.E1469* Substitution - Nonsense 1:246853249-246853249 - TCGA-CG-4440-01 COSM4030484 c.3958G>A p.E1320K Substitution - Missense 1:246861073-246861073 - TCGA-AX-A0J0-01 COSM906897 c.3780A>G p.K1260K Substitution - coding silent 1:246861251-246861251 - TCGA-D1-A103-01 COSM906884 c.6179C>A p.S2060* Substitution - Nonsense 1:246849827-246849827 - B54 COSM1748283 c.6759G>A p.L2253L Substitution - coding silent 1:246840848-246840848 - 2492702 COSM5716683 c.1584C>T p.S528S Substitution - coding silent 1:246898247-246898247 - T3174 COSM4660461 c.5158G>A p.E1720K Substitution - Missense 1:246850848-246850848 - 824_T COSM3977388 c.4209G>T p.P1403P Substitution - coding silent 1:246857738-246857738 - ESO-1733 COSM1244663 c.2944C>A p.R982S Substitution - Missense 1:246876181-246876181 - TCGA-IR-A3LI-01 COSM4846149 c.3981G>A p.P1327P Substitution - coding silent 1:246861050-246861050 - J57_T COSM3977391 c.964G>C p.E322Q Substitution - Missense 1:246903951-246903951 - TCGA-AP-A0LD-01 COSM906898 c.3674G>A p.R1225Q Substitution - Missense 1:246862020-246862020 - RK145_C01 COSM3700684 c.2661-1G>T p.? Unknown 1:246877303-246877303 - S02354 COSM5695498 c.2423A>G p.Q808R Substitution - Missense 1:246887260-246887260 - CSCC-27-T COSM4486431 c.3025C>T p.R1009* Substitution - Nonsense 1:246876100-246876100 - CSCC-27-T COSM4484960 c.2851C>T p.H951Y Substitution - Missense 1:246877036-246877036 - TCGA-GL-A59T-01 COSM3984904 c.2131G>A p.E711K Substitution - Missense 1:246889979-246889979 - T578 COSM4660459 c.6655C>T p.R2219W Substitution - Missense 1:246840952-246840952 - TCGA-13-1481-01 COSM73616 c.4941T>A p.S1647R Substitution - Missense 1:246851065-246851065 - B107 COSM1748286 c.1921G>A p.E641K Substitution - Missense 1:246891803-246891803 - 51T COSM106930 c.1378C>T p.P460S Substitution - Missense 1:246900119-246900119 - TCGA-GN-A262-06 COSM3486529 c.1044T>A p.N348K Substitution - Missense 1:246902598-246902598 - HCC021T COSM5815563 c.4783A>T p.I1595L Substitution - Missense 1:246851223-246851223 - BN24T COSM1602054 c.1454C>T p.S485L Substitution - Missense 1:246899491-246899491 - LS513 COSM2052244 c.3941C>G p.S1314C Substitution - Missense 1:246861090-246861090 - 48 COSM5010765 c.5911C>A p.P1971T Substitution - Missense 1:246850095-246850095 - 587222 COSM1182258 c.533A>C p.N178T Substitution - Missense 1:246913255-246913255 - NB-2116 COSM1283316 c.1317G>T p.R439S Substitution - Missense 1:246900180-246900180 - TCGA-DG-A2KL-01 COSM4851492 c.1495-1G>A p.? Unknown 1:246898337-246898337 - ATL048 COSM5705368 c.2402T>C p.V801A Substitution - Missense 1:246887281-246887281 - TCGA-37-5819-01 COSM679549 c.3943G>T p.D1315Y Substitution - Missense 1:246861088-246861088 - TCGA-24-1435-01 COSM73618 c.575G>C p.G192A Substitution - Missense 1:246907740-246907740 - TCGA-EE-A29E-06 COSM3486526 c.1397C>T p.P466L Substitution - Missense 1:246900100-246900100 - TCGA-D3-A2JH-06 COSM3486521 c.6257C>T p.A2086V Substitution - Missense 1:246849749-246849749 - CHC433T COSM217019 c.764+1C>A p.? Unknown TCGA-A2-A0CM-01 COSM5193540 c.3007delA p.I1003fs*9 Deletion - Frameshift 1:246876118-246876118 - CSCC-31-T COSM4553635 c.5950G>T p.E1984* Substitution - Nonsense 1:246850056-246850056 - LUAD-D01603 COSM337663 c.1325C>T p.P442L Substitution - Missense 1:246900172-246900172 - TCGA-CA-6717-01 COSM1340918 c.2724A>G p.L908L Substitution - coding silent 1:246877239-246877239 - TCGA-A5-A0GB-01 COSM906888 c.5382A>G p.R1794R Substitution - coding silent 1:246850624-246850624 - ESCC-147T COSM3934613 c.4395C>T p.L1465L Substitution - coding silent 1:246853259-246853259 - TCGA-BH-A2L8-01 COSM3804669 c.3147G>A p.L1049L Substitution - coding silent 1:246867753-246867753 - CHC1148T COSM4954789 c.4011C>A p.A1337A Substitution - coding silent 1:246861020-246861020 - TCGA-QA-A7B7-01 COSM4909963 c.3165C>A p.I1055I Substitution - coding silent 1:246867735-246867735 - 19 COSM5745849 c.2311G>A p.A771T Substitution - Missense 1:246888191-246888191 - PD4084a COSM165970 c.935delA p.K312fs*13 Deletion - Frameshift 1:246903980-246903980 - TCGA-AK-3436-01 COSM1134867 c.301A>G p.T101A Substitution - Missense 1:246916216-246916216 - TCGA-RC-A7SK-01 COSM4918521 c.4616A>G p.N1539S Substitution - Missense 1:246851390-246851390 - TCGA-AR-A24Q-01 COSM1473743 c.3973C>G p.P1325A Substitution - Missense 1:246861058-246861058 - TCGA-18-3415-01 COSM679547 c.3718C>T p.P1240S Substitution - Missense 1:246861976-246861976 - TCGA-BR-4201-01 COSM4030489 c.1149T>A p.F383L Substitution - Missense 1:246900438-246900438 - TCGA-06-6390 COSM2153442 c.3936C>T p.I1312I Substitution - coding silent 1:246861095-246861095 - YUGOE COSM231728 c.6410C>T p.P2137L Substitution - Missense 1:246843910-246843910 - pfg008T COSM1639787 c.122-8delT p.? Unknown 1:246916403-246916403 - 2492703 COSM5716683 c.1584C>T p.S528S Substitution - coding silent 1:246898247-246898247 - 8035633 COSM3385995 c.6059T>C p.V2020A Substitution - Missense 1:246849947-246849947 - 13280 COSM5613966 c.5848G>C p.E1950Q Substitution - Missense 1:246850158-246850158 - LS411 COSM2052249 c.3451C>T p.L1151L Substitution - coding silent 1:246864013-246864013 - CSCC-31-T COSM4502366 c.6089C>T p.S2030F Substitution - Missense 1:246849917-246849917 - TCGA-ER-A2NC-06 COSM3486519 c.6409C>T p.P2137S Substitution - Missense 1:246843911-246843911 - CPCG0183-P3 COSM3396161 c.448C>T p.R150* Substitution - Nonsense 1:246913340-246913340 - TCGA-A5-A0GN-01 COSM906887 c.5668G>A p.D1890N Substitution - Missense 1:246850338-246850338 - TCGA-FT-A3EE-01 COSM3789766 c.3696A>T p.S1232S Substitution - coding silent 1:246861998-246861998 - TCGA-RP-A695-06 COSM4897102 c.104G>A p.R35H Substitution - Missense 1:246918267-246918267 - EGC8 COSM2052260 c.2960G>A p.R987Q Substitution - Missense 1:246876165-246876165 - BN49T COSM1602055 c.1266A>G p.L422L Substitution - coding silent 1:246900231-246900231 - TCGA-F4-6570-01 COSM1340916 c.3673C>T p.R1225* Substitution - Nonsense 1:246862021-246862021 - TCGA-B5-A11G-01 COSM906900 c.3562T>A p.S1188T Substitution - Missense 1:246862132-246862132 - TCGA-AZ-6598-01 COSM1340920 c.2641A>G p.T881A Substitution - Missense 1:246885512-246885512 - 2492712 COSM5718879 c.1013G>T p.G338V Substitution - Missense 1:246902629-246902629 - BZ11 COSM5758157 c.1178G>T p.G393V Substitution - Missense 1:246900409-246900409 - LU-1516 COSM5613968 c.4037C>T p.A1346V Substitution - Missense 1:246860994-246860994 - 9227_T COSM5042384 c.1256G>A p.G419E Substitution - Missense 1:246900241-246900241 - TCGA-BR-6452-01 COSM4030490 c.594A>G p.P198P Substitution - coding silent 1:246907721-246907721 - TCGA-D8-A1XK-01 COSM3804664 c.6331T>A p.S2111T Substitution - Missense 1:246849675-246849675 - C086 COSM5526428 c.4108C>T p.P1370S Substitution - Missense 1:246860923-246860923 - PT49 COSM5934213 c.4040T>C p.L1347P Substitution - Missense 1:246860991-246860991 - PT33 COSM5907818 c.2806-8C>T p.? Unknown 1:246877089-246877089 - TCGA-D3-A3C1-06 COSM3486528 c.1081C>T p.R361* Substitution - Nonsense 1:246902561-246902561 - TCGA-AX-A0IU-01 COSM906902 c.2893G>T p.V965L Substitution - Missense 1:246876994-246876994 - T3082 COSM4660464 c.3001_3002delGG p.G1001fs*5 Deletion - Frameshift 1:246876123-246876124 - TCGA-18-3421-01 COSM679545 c.2827C>T p.Q943* Substitution - Nonsense 1:246877060-246877060 - TCGA-D1-A103-01 COSM906906 c.2161G>A p.D721N Substitution - Missense 1:246888501-246888501 - TCGA-AP-A051-01 COSM906896 c.4147G>A p.A1383T Substitution - Missense 1:246857800-246857800 - TCGA-EE-A3JH-06 COSM3486524 c.2860C>T p.L954F Substitution - Missense 1:246877027-246877027 - TCGA-AA-A010-01 COSM278709 c.5591T>G p.V1864G Substitution - Missense 1:246850415-246850415 - STC252 COSM5053321 c.5906C>T p.A1969V Substitution - Missense 1:246850100-246850100 - 2492729 COSM5730133 c.4662G>A p.Q1554Q Substitution - coding silent 1:246851344-246851344 - TCGA-BR-8366-01 COSM4030479 c.6585G>A p.T2195T Substitution - coding silent 1:246842717-246842717 - 3N44-VS-3T44 COSM4982149 c.4882T>C p.C1628R Substitution - Missense 1:246851124-246851124 - TCGA-AP-A051-01 COSM906890 c.5174C>G p.T1725S Substitution - Missense 1:246850832-246850832 - RKO COSM2052246 c.3780delA p.K1260fs*11 Deletion - Frameshift 1:246861251-246861251 - Sample_1 COSM3997386 c.6553C>G p.L2185V Substitution - Missense 1:246842749-246842749 - BN24 COSM1602054 c.1454C>T p.S485L Substitution - Missense 1:246899491-246899491 - PT16_1 COSM5898074 c.2944C>T p.R982C Substitution - Missense 1:246876181-246876181 - CHC433T COSM250832 c.764+1G>T p.? Unknown 1:246907550-246907550 - TCGA-BK-A0C9-01 COSM906912 c.1455G>A p.S485S Substitution - coding silent 1:246899490-246899490 - TCGA-AA-3966-01 COSM272319 c.190C>T p.R64* Substitution - Nonsense 1:246916327-246916327 - sysucc-707T COSM5460035 c.1078T>A p.F360I Substitution - Missense 1:246902564-246902564 - 587342 COSM1182260 c.5725A>G p.T1909A Substitution - Missense 1:246850281-246850281 - TCGA-FS-A1ZT-06 COSM3486523 c.3398A>G p.E1133G Substitution - Missense 1:246864066-246864066 - PCSI_0347_Pa_P_526 COSM3785216 c.655A>G p.T219A Substitution - Missense 1:246907660-246907660 - TCGA-E9-A5UO-01 COSM3804667 c.3507A>G p.E1169E Substitution - coding silent 1:246863957-246863957 - TCGA-22-5473-01 COSM679550 c.5720G>C p.R1907T Substitution - Missense 1:246850286-246850286 - Pat_63_B COSM5846089 c.5944C>T p.P1982S Substitution - Missense 1:246850062-246850062 - TCGA-CJ-4920-01 COSM464271 c.1530C>A p.L510L Substitution - coding silent 1:246898301-246898301 - T2269 COSM4660459 c.6655C>T p.R2219W Substitution - Missense 1:246840952-246840952 - RK308_C01 COSM3741160 c.4215A>G p.Q1405Q Substitution - coding silent 1:246857732-246857732 - TARGET-30-PASAZJ COSM1283317 c.4882T>A p.C1628S Substitution - Missense 1:246851124-246851124 - SMS-CTR COSM4989382 c.4294G>A p.D1432N Substitution - Missense 1:246855790-246855790 - I2L-P27-Tumor-Organoid COSM5353398 c.6298C>T p.R2100W Substitution - Missense 1:246849708-246849708 - CHC892T COSM4797929 c.6067G>A p.G2023R Substitution - Missense 1:246849939-246849939 - TCGA-D8-A1XK-01 COSM3804668 c.3258A>G p.P1086P Substitution - coding silent 1:246867333-246867333 - ESO-632 COSM1244665 c.4730A>G p.D1577G Substitution - Missense 1:246851276-246851276 - C0080T COSM4165122 c.2008G>T p.V670F Substitution - Missense 1:246890998-246890998 - I-02 COSM4767117 c.1967A>C p.K656T Substitution - Missense 1:246891039-246891039 - TCGA-18-3414-01 COSM679544 c.2373A>G p.T791T Substitution - coding silent 1:246887310-246887310 - PT37 COSM5916973 c.6281C>T p.S2094F Substitution - Missense 1:246849725-246849725 - pfg122T COSM4766037 c.3781_3782insA p.C1261fs*1 Insertion - Frameshift 1:246861249-246861250 - NCI-H835 COSM2052254 c.3275C>T p.S1092L Substitution - Missense 1:246867316-246867316 - HCC170 COSM3705707 c.2051-9A>C p.? Unknown 1:246890068-246890068 - LUAD-NYU847 COSM376534 c.3722A>G p.K1241R Substitution - Missense 1:246861972-246861972 - ESO-0129 COSM1244662 c.2603C>T p.P868L Substitution - Missense 1:246885550-246885550 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.300887 1q44 610853

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AC - Frameshift p.K1434Nfs*14 c.4302_4303delGT 1 247019110 CM A C Missense p.S2263A c.6787T>G 1 247004149 HC A G Synonymous p.D735D c.2205T>C 1 247051786 HNSC A G Synonymous p.L333L c.997T>C 1 247065974 CM A G Synonymous p.N664N c.1992T>C 1 247054343 STAD A - IntronicDeletion . c.149-8delT 1 247079705 STAD A T Missense p.C1637S c.4909T>A 1 247014426 NB A T Missense p.F392L c.1176T>A 1 247063740 STAD A T Missense p.L1420H c.4259T>A 1 247021017 OV A T Missense p.N357K c.1071T>A 1 247065900 CM A T Missense p.S1197T c.3589T>A 1 247025434 UCEC A T Missense p.S1656R c.4968T>A 1 247014367 OV C A Missense p.A1191S c.3571G>T 1 247025452 OV C A Missense p.D1324Y c.3970G>T 1 247024390 LUSC C A Missense p.D1742Y c.5224G>T 1 247014111 BRCA C A Missense p.L1915F c.5745G>T 1 247013590 BRCA C A Missense p.R2201L c.6602G>T 1 247006029 LUSC C A Missense p.R426M c.1277G>T 1 247063639 STAD C A Missense p.R448S c.1344G>T 1 247063482 NB C A Missense p.V974L c.2920G>T 1 247040296 UCEC C A Missense p.W595C c.1785G>T 1 247058007 BRCA C A Nonsense p.E1613* c.4837G>T 1 247014498 LUAD C A Nonsense p.E461* c.1381G>T 1 247063445 CM C A Nonsense p.E84* c.250G>T 1 247079596 BRCA C A Nonsense p.E927* c.2779G>T 1 247040513 BRCA C A Nonsense p.G163* c.487G>T 1 247076630 HC C A SpliceAcceptorSNV . c.6636-1G>T 1 247004301 SCLC C G Missense p.A1222P c.3664G>C 1 247025359 LUAD C G Missense p.E1245Q c.3733G>C 1 247025290 LUSC C G Missense p.E1959Q c.5875G>C 1 247013460 NSCLC C G Missense p.E720Q c.2158G>C 1 247053281 BLCA C G Missense p.G201A c.602G>C 1 247071042 OV C G Missense p.L570F c.1710G>C 1 247059168 ESCA C G Missense p.R1916T c.5747G>C 1 247013588 LUSC C G Missense p.R1948T c.5843G>C 1 247013492 NSCLC C G Missense p.R609T c.1826G>C 1 247057966 BLCA C G Synonymous p.V1622V c.4866G>C 1 247014469 BRCA CT AA SpliceAcceptorBlockSubstitution . c.1145-2_1145-1delinsTT 1 247063772 LUAD C T Missense p.D1899N c.5695G>A 1 247013640 UCEC C T Missense p.E1329K c.3985G>A 1 247024375 STAD C T Missense p.E304K c.910G>A 1 247067334 COREAD C T Missense p.E337K c.1009G>A 1 247065962 LUAD C T Missense p.E94K c.280G>A 1 247079566 OV C T Missense p.G1469S c.4405G>A 1 247016578 BRCA C T Missense p.G146E c.437G>A 1 247076680 LUAD C T Missense p.G378D c.1133G>A 1 247065838 COREAD C T Missense p.R1234Q c.3701G>A 1 247025322 UCEC C T Missense p.R590H c.1769G>A 1 247058023 UCEC C T Missense p.R715H c.2144G>A 1 247053295 BLCA C T Nonsense p.W825* c.2475G>A 1 247050537 CM C T Synonymous p.L1129L c.3387G>A 1 247027406 CM C T Synonymous p.Q717Q c.2151G>A 1 247053288 BRCA C T Synonymous p.S2048S c.6144G>A 1 247013191 UCEC G A Missense p.A1355V c.4064C>T 1 247024296 NSCLC G A Missense p.A1456V c.4367C>T 1 247019046 STAD G A Missense p.A2095V c.6284C>T 1 247013051 CM G A Missense p.L115F c.343C>T 1 247079503 CM G A Missense p.L963F c.2887C>T 1 247040329 CM G A Missense p.P1224S c.3670C>T 1 247025353 CM G A Missense p.P1249S c.3745C>T 1 247025278 LUSC G A Missense p.P2146S c.6436C>T 1 247007213 CM G A Missense p.P25S c.73C>T 1 247081627 CM G A Missense p.P877L c.2630C>T 1 247048852 ESCA G A Missense p.R991C c.2971C>T 1 247039483 CM G A Missense p.S384L c.1151C>T 1 247063765 CM G A Nonsense p.Q952* c.2854C>T 1 247040362 LUSC G A Nonsense p.R370* c.1108C>T 1 247065863 CM G A Synonymous p.A1172A c.3516C>T 1 247027277 CM G A Synonymous p.D831D c.2493C>T 1 247050519 CM G A Synonymous p.F962F c.2886C>T 1 247040330 CM G A Synonymous p.G863G c.2589C>T 1 247048893 STAD G A Synonymous p.I1321I c.3963C>T 1 247024397 GBM G A Synonymous p.L1397L c.4191C>T 1 247021085 UCEC G C Missense p.P1334A c.4000C>G 1 247024360 BRCA G C Missense p.Q1298E c.3892C>G 1 247024468 LUSC G C Synonymous p.A1653A c.4959C>G 1 247014376 PRAD G T Missense p.R991S c.2971C>A 1 247039483 ESCA G T Synonymous p.L519L c.1557C>A 1 247061603 RCCC TA CC Missense p.Y1028G c.3082_3083delinsGG 1 247039371 COREAD T A Missense p.E2181V c.6542A>T 1 247007107 CM T A Missense p.K321M c.962A>T 1 247067282 BRCA T A Missense p.R78S c.234A>T 1 247079612 STAD T A Missense p.T579S c.1735A>T 1 247059143 NSCLC T A Missense p.Y1564F c.4691A>T 1 247014644 HNSC T A Synonymous p.S441S c.1323A>T 1 247063503 LUAD T C Missense p.D1586G c.4757A>G 1 247014578 ESCA T C Missense p.D693G c.2078A>G 1 247053361 LUSC T C Missense p.E1142G c.3425A>G 1 247027368 CM T C Missense p.I557M c.1671A>G 1 247059207 HNSC T C Missense p.N972S c.2915A>G 1 247040301 HNSC T C Missense p.Q298R c.893A>G 1 247068858 LUAD T C Missense p.R609G c.1825A>G 1 247057967 LUAD T C Missense p.T1265A c.3793A>G 1 247024567 HNSC T C Synonymous p.E2080E c.6240A>G 1 247013095 UCEC T C Synonymous p.R1803R c.5409A>G 1 247013926 UCEC T C Synonymous p.S185S c.555A>G 1 247076562 LUSC T C Synonymous p.S699S c.2097A>G 1 247053342 BRCA T C Synonymous p.T800T c.2400A>G 1 247050612 LUSC T - Frameshift p.K321Sfs*13 c.962delA 1 247067282 BRCA - T Frameshift p.L2057Tfs*6 c.6168dupA 1 247013167 LGG TG - Frameshift p.Q1363Nfs*2 c.4087_4088delCA 1 247024272 CLL T G Missense p.K1122T c.3365A>C 1 247030555 ESCA T G Missense p.L2152F c.6456A>C 1 247007193 BRCA T G Missense p.N397T c.1190A>C 1 247063726 BRCA T G Synonymous p.R14R c.40A>C 1 247081660 RCCC - T IntronicInsertion . c.1832-892dupA 1 247056113 CM