Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 74387281 74387281 + Missense_Mutation SNP G G T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr17:74387281G>T c.3622C>A c.(3622-3624)Ctg>Atg p.L1208M ACC 17 74392628 74392628 + Missense_Mutation SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr17:74392628C>A c.2390G>T c.(2389-2391)gGg>gTg p.G797V BLCA 17 74387073 74387083 + Frame_Shift_Del DEL CGGAACTGCGT CGGAACTGCGT - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr17:74387073_74387083delCGGAACTGCGT c.3820_3830delACGCAGTTCCG c.(3820-3831)acgcagttccggfs p.TQFR1274fs BLCA 17 74387189 74387189 + Silent SNP T T C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr17:74387189T>C c.3714A>G c.(3712-3714)agA>agG p.R1238R BLCA 17 74387263 74387263 + Missense_Mutation SNP C C T TCGA-FD-A6TH-01A-11D-A32B-08 TCGA-FD-A6TH-10A-01D-A329-08 g.chr17:74387263C>T c.3640G>A c.(3640-3642)Gac>Aac p.D1214N BLCA 17 74387282 74387282 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr17:74387282G>A c.3621C>T c.(3619-3621)ggC>ggT p.G1207G BLCA 17 74387651 74387651 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr17:74387651G>A c.3252C>T c.(3250-3252)ttC>ttT p.F1084F BLCA 17 74388108 74388108 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr17:74388108G>A c.3033C>T c.(3031-3033)atC>atT p.I1011I BLCA 17 74392341 74392341 + Missense_Mutation SNP C C T TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr17:74392341C>T c.2677G>A c.(2677-2679)Gag>Aag p.E893K BLCA 17 74395552 74395552 + Missense_Mutation SNP G G C TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr17:74395552G>C c.1606C>G c.(1606-1608)Cga>Gga p.R536G BLCA 17 74396299 74396299 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr17:74396299C>T c.1084G>A c.(1084-1086)Gag>Aag p.E362K BLCA 17 74398695 74398695 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr17:74398695G>C c.674C>G c.(673-675)tCc>tGc p.S225C BRCA 17 74387082 74387082 + Missense_Mutation SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 g.chr17:74387082G>A c.3821C>T c.(3820-3822)aCg>aTg p.T1274M BRCA 17 74392693 74392693 + Silent SNP C C T TCGA-BH-A0W7-01A-11D-A10Y-09 TCGA-BH-A0W7-10A-01D-A110-09 g.chr17:74392693C>T c.2325G>A c.(2323-2325)gtG>gtA p.V775V BRCA 17 74396571 74396571 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:74396571C>T c.955G>A c.(955-957)Gac>Aac p.D319N BRCA 17 74401326 74401326 + Silent SNP G G A TCGA-AO-A1KS-01A-11D-A13L-09 TCGA-AO-A1KS-10A-01W-A14R-09 g.chr17:74401326G>A c.549C>T c.(547-549)atC>atT p.I183I CESC 17 74388179 74388179 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr17:74388179G>C c.2962C>G c.(2962-2964)Ctc>Gtc p.L988V CESC 17 74392782 74392782 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr17:74392782C>T c.2236G>A c.(2236-2238)Ggg>Agg p.G746R CESC 17 74394424 74394424 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 g.chr17:74394424G>T c.1937C>A c.(1936-1938)gCt>gAt p.A646D CESC 17 74394636 74394636 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 g.chr17:74394636C>T c.1813G>A c.(1813-1815)Ggt>Agt p.G605S CESC 17 74395865 74395865 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 g.chr17:74395865G>T c.1293C>A c.(1291-1293)agC>agA p.S431R COAD 17 74387662 74387662 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:74387662C>T c.3241G>A c.(3241-3243)Gaa>Aaa p.E1081K COAD 17 74387883 74387883 + Silent SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:74387883C>T c.3162G>A c.(3160-3162)agG>agA p.R1054R COAD 17 74387885 74387885 + Missense_Mutation SNP T T A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr17:74387885T>A c.3160A>T c.(3160-3162)Agg>Tgg p.R1054W COAD 17 74388089 74388089 + Frame_Shift_Del DEL G G - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:74388089delG c.3052delC c.(3052-3054)cacfs p.H1018fs COAD 17 74391933 74391933 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:74391933G>T c.2819C>A c.(2818-2820)tCt>tAt p.S940Y COAD 17 74392666 74392666 + Silent SNP G G A TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr17:74392666G>A c.2352C>T c.(2350-2352)gcC>gcT p.A784A COAD 17 74394414 74394414 + Silent SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr17:74394414A>G c.1947T>C c.(1945-1947)ccT>ccC p.P649P COAD 17 74394932 74394932 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:74394932A>G c.1769T>C c.(1768-1770)gTg>gCg p.V590A COAD 17 74394995 74394995 + Missense_Mutation SNP C C A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:74394995C>A c.1706G>T c.(1705-1707)cGc>cTc p.R569L COAD 17 74395585 74395585 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:74395585G>A c.1573C>T c.(1573-1575)Cgc>Tgc p.R525C COAD 17 74395694 74395694 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr17:74395694C>T c.1464G>A c.(1462-1464)acG>acA p.T488T COAD 17 74395759 74395759 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:74395759C>A c.1399G>T c.(1399-1401)Gaa>Taa p.E467* COAD 17 74395785 74395785 + Missense_Mutation SNP T T C TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:74395785T>C c.1373A>G c.(1372-1374)gAg>gGg p.E458G COAD 17 74395785 74395785 + Missense_Mutation SNP T T C TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr17:74395785T>C c.1373A>G c.(1372-1374)gAg>gGg p.E458G COAD 17 74401380 74401380 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:74401380C>T c.495G>A c.(493-495)acG>acA p.T165T COAD 17 74401638 74401638 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:74401638C>T c.434G>A c.(433-435)cGt>cAt p.R145H COADREAD 17 74387662 74387662 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:74387662C>T c.3241G>A c.(3241-3243)Gaa>Aaa p.E1081K COADREAD 17 74387883 74387883 + Silent SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:74387883C>T c.3162G>A c.(3160-3162)agG>agA p.R1054R COADREAD 17 74387885 74387885 + Missense_Mutation SNP T T A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr17:74387885T>A c.3160A>T c.(3160-3162)Agg>Tgg p.R1054W COADREAD 17 74388089 74388089 + Frame_Shift_Del DEL G G - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:74388089delG c.3052delC c.(3052-3054)cacfs p.H1018fs COADREAD 17 74391933 74391933 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:74391933G>T c.2819C>A c.(2818-2820)tCt>tAt p.S940Y COADREAD 17 74392240 74392240 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr17:74392240G>A c.2778C>T c.(2776-2778)ggC>ggT p.G926G COADREAD 17 74392666 74392666 + Silent SNP G G A TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr17:74392666G>A c.2352C>T c.(2350-2352)gcC>gcT p.A784A COADREAD 17 74394414 74394414 + Silent SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr17:74394414A>G c.1947T>C c.(1945-1947)ccT>ccC p.P649P COADREAD 17 74394932 74394932 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:74394932A>G c.1769T>C c.(1768-1770)gTg>gCg p.V590A COADREAD 17 74394995 74394995 + Missense_Mutation SNP C C A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:74394995C>A c.1706G>T c.(1705-1707)cGc>cTc p.R569L COADREAD 17 74395585 74395585 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:74395585G>A c.1573C>T c.(1573-1575)Cgc>Tgc p.R525C COADREAD 17 74395694 74395694 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr17:74395694C>T c.1464G>A c.(1462-1464)acG>acA p.T488T COADREAD 17 74395759 74395759 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:74395759C>A c.1399G>T c.(1399-1401)Gaa>Taa p.E467* COADREAD 17 74395785 74395785 + Missense_Mutation SNP T T C TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:74395785T>C c.1373A>G c.(1372-1374)gAg>gGg p.E458G COADREAD 17 74395785 74395785 + Missense_Mutation SNP T T C TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr17:74395785T>C c.1373A>G c.(1372-1374)gAg>gGg p.E458G COADREAD 17 74396331 74396331 + Missense_Mutation SNP T T C TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr17:74396331T>C c.1052A>G c.(1051-1053)gAg>gGg p.E351G COADREAD 17 74397133 74397133 + Missense_Mutation SNP C C T TCGA-AG-A016-01A-01W-A005-10 TCGA-AG-A016-10A-01W-A005-10 g.chr17:74397133C>T c.853G>A c.(853-855)Gtg>Atg p.V285M COADREAD 17 74401380 74401380 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:74401380C>T c.495G>A c.(493-495)acG>acA p.T165T COADREAD 17 74401638 74401638 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:74401638C>T c.434G>A c.(433-435)cGt>cAt p.R145H DLBC 17 74387455 74387455 + Missense_Mutation SNP C C T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr17:74387455C>T c.3448G>A c.(3448-3450)Gcc>Acc p.A1150T DLBC 17 74392249 74392249 + Silent SNP G G A TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr17:74392249G>A c.2769C>T c.(2767-2769)agC>agT p.S923S ESCA 17 74388061 74388061 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 g.chr17:74388061C>T c.3080G>A c.(3079-3081)gGc>gAc p.G1027D ESCA 17 74392719 74392719 + Missense_Mutation SNP C C A TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr17:74392719C>A c.2299G>T c.(2299-2301)Gtg>Ttg p.V767L ESCA 17 74395935 74395935 + Missense_Mutation SNP C C A TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr17:74395935C>A c.1223G>T c.(1222-1224)cGg>cTg p.R408L ESCA 17 74395954 74395954 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 g.chr17:74395954G>A c.1204C>T c.(1204-1206)Cca>Tca p.P402S ESCA 17 74396248 74396248 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr17:74396248delC c.1135delG c.(1135-1137)gagfs p.E379fs GBM 17 74395033 74395033 + Silent SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr17:74395033G>A c.1668C>T c.(1666-1668)gaC>gaT p.D556D GBMLGG 17 74392626 74392626 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:74392626G>A c.2392C>T c.(2392-2394)Ctg>Ttg p.L798L GBMLGG 17 74394562 74394562 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:74394562G>A c.1887C>T c.(1885-1887)gaC>gaT p.D629D GBMLGG 17 74395033 74395033 + Silent SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr17:74395033G>A c.1668C>T c.(1666-1668)gaC>gaT p.D556D GBMLGG 17 74395629 74395629 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:74395629G>A c.1529C>T c.(1528-1530)aCg>aTg p.T510M HNSC 17 74387543 74387543 + Silent SNP G G A TCGA-UP-A6WW-01A-12D-A34J-08 TCGA-UP-A6WW-10B-01D-A34M-08 g.chr17:74387543G>A c.3360C>T c.(3358-3360)ccC>ccT p.P1120P HNSC 17 74388027 74388027 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr17:74388027C>G c.3114G>C c.(3112-3114)aaG>aaC p.K1038N HNSC 17 74392380 74392380 + Nonsense_Mutation SNP C C A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 g.chr17:74392380C>A c.2638G>T c.(2638-2640)Gaa>Taa p.E880* HNSC 17 74392877 74392877 + Missense_Mutation SNP A A G TCGA-CQ-5334-01A-01D-1683-08 TCGA-CQ-5334-10A-01D-1683-08 g.chr17:74392877A>G c.2141T>C c.(2140-2142)aTt>aCt p.I714T KIPAN 17 74391863 74391863 + Silent SNP C C T TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr17:74391863C>T c.2889G>A c.(2887-2889)gcG>gcA p.A963A KIPAN 17 74391896 74391896 + Silent SNP C C T TCGA-2Z-A9J3-01A-12D-A382-10 TCGA-2Z-A9J3-10A-01D-A385-10 g.chr17:74391896C>T c.2856G>A c.(2854-2856)aaG>aaA p.K952K KIPAN 17 74392558 74392558 + Silent SNP G G T TCGA-BP-5183-01A-01D-1429-08 TCGA-BP-5183-11A-01D-1429-08 g.chr17:74392558G>T c.2460C>A c.(2458-2460)atC>atA p.I820I KIPAN 17 74392603 74392603 + Silent SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 g.chr17:74392603G>A c.2415C>T c.(2413-2415)gaC>gaT p.D805D KIPAN 17 74392798 74392798 + Silent SNP G G A TCGA-BP-5169-01A-01D-1429-08 TCGA-BP-5169-11A-01D-1429-08 g.chr17:74392798G>A c.2220C>T c.(2218-2220)agC>agT p.S740S KIPAN 17 74393911 74393911 + Missense_Mutation SNP G G C TCGA-J7-A8I2-01A-12D-A35Z-10 TCGA-J7-A8I2-10A-01D-A35Z-10 g.chr17:74393911G>C c.2084C>G c.(2083-2085)gCt>gGt p.A695G KIPAN 17 74394955 74394957 + In_Frame_Del DEL GTT GTT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:74394955_74394957delGTT c.1744_1746delAAC c.(1744-1746)aacdel p.N582del KIPAN 17 74398143 74398143 + Splice_Site SNP A A G TCGA-UZ-A9Q0-01A-12D-A42J-10 TCGA-UZ-A9Q0-10A-01D-A42M-10 g.chr17:74398143A>G c.e5+1 KIPAN 17 74398736 74398736 + Silent SNP C C T TCGA-CJ-4875-01A-01D-1373-10 TCGA-CJ-4875-11A-01D-1373-10 g.chr17:74398736C>T c.633G>A c.(631-633)ggG>ggA p.G211G KIPAN 17 74449137 74449137 + Silent SNP G G A TCGA-P4-AAVM-01A-11D-A42J-10 TCGA-P4-AAVM-11A-11D-A42M-10 g.chr17:74449137G>A c.87C>T c.(85-87)gcC>gcT p.A29A KIRC 17 74392558 74392558 + Silent SNP G G T TCGA-BP-5183-01A-01D-1429-08 TCGA-BP-5183-11A-01D-1429-08 g.chr17:74392558G>T c.2460C>A c.(2458-2460)atC>atA p.I820I KIRC 17 74392603 74392603 + Silent SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 g.chr17:74392603G>A c.2415C>T c.(2413-2415)gaC>gaT p.D805D KIRC 17 74392798 74392798 + Silent SNP G G A TCGA-BP-5169-01A-01D-1429-08 TCGA-BP-5169-11A-01D-1429-08 g.chr17:74392798G>A c.2220C>T c.(2218-2220)agC>agT p.S740S KIRC 17 74394955 74394957 + In_Frame_Del DEL GTT GTT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:74394955_74394957delGTT c.1744_1746delAAC c.(1744-1746)aacdel p.N582del KIRC 17 74398736 74398736 + Silent SNP C C T TCGA-CJ-4875-01A-01D-1373-10 TCGA-CJ-4875-11A-01D-1373-10 g.chr17:74398736C>T c.633G>A c.(631-633)ggG>ggA p.G211G KIRP 17 74391863 74391863 + Silent SNP C C T TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr17:74391863C>T c.2889G>A c.(2887-2889)gcG>gcA p.A963A KIRP 17 74391896 74391896 + Silent SNP C C T TCGA-2Z-A9J3-01A-12D-A382-10 TCGA-2Z-A9J3-10A-01D-A385-10 g.chr17:74391896C>T c.2856G>A c.(2854-2856)aaG>aaA p.K952K KIRP 17 74393911 74393911 + Missense_Mutation SNP G G C TCGA-J7-A8I2-01A-12D-A35Z-10 TCGA-J7-A8I2-10A-01D-A35Z-10 g.chr17:74393911G>C c.2084C>G c.(2083-2085)gCt>gGt p.A695G KIRP 17 74398143 74398143 + Splice_Site SNP A A G TCGA-UZ-A9Q0-01A-12D-A42J-10 TCGA-UZ-A9Q0-10A-01D-A42M-10 g.chr17:74398143A>G c.e5+1 KIRP 17 74449137 74449137 + Silent SNP G G A TCGA-P4-AAVM-01A-11D-A42J-10 TCGA-P4-AAVM-11A-11D-A42M-10 g.chr17:74449137G>A c.87C>T c.(85-87)gcC>gcT p.A29A LGG 17 74392626 74392626 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:74392626G>A c.2392C>T c.(2392-2394)Ctg>Ttg p.L798L LGG 17 74394562 74394562 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:74394562G>A c.1887C>T c.(1885-1887)gaC>gaT p.D629D LGG 17 74395629 74395629 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:74395629G>A c.1529C>T c.(1528-1530)aCg>aTg p.T510M LIHC 17 74387574 74387574 + Missense_Mutation SNP T T A TCGA-BC-A10T-01A-11D-A12Z-10 TCGA-BC-A10T-11A-11D-A12Z-10 g.chr17:74387574T>A c.3329A>T c.(3328-3330)cAg>cTg p.Q1110L LIHC 17 74388089 74388089 + Frame_Shift_Del DEL G G - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr17:74388089delG c.3052delC c.(3052-3054)cacfs p.H1018fs LUAD 17 74387492 74387492 + Silent SNP C C A TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr17:74387492C>A c.3411G>T c.(3409-3411)cgG>cgT p.R1137R LUAD 17 74392500 74392500 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chr17:74392500G>C c.2518C>G c.(2518-2520)Ccg>Gcg p.P840A LUAD 17 74392594 74392594 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr17:74392594G>C c.2424C>G c.(2422-2424)ccC>ccG p.P808P LUAD 17 74392671 74392671 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 g.chr17:74392671C>A c.2347G>T c.(2347-2349)Gct>Tct p.A783S LUAD 17 74394355 74394355 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 g.chr17:74394355G>A c.2006C>T c.(2005-2007)gCt>gTt p.A669V LUAD 17 74394977 74394977 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr17:74394977G>A c.1724C>T c.(1723-1725)cCt>cTt p.P575L LUAD 17 74395027 74395027 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr17:74395027C>T c.1674G>A c.(1672-1674)atG>atA p.M558I LUAD 17 74395732 74395732 + Missense_Mutation SNP C C A TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chr17:74395732C>A c.1426G>T c.(1426-1428)Gca>Tca p.A476S LUAD 17 74396252 74396252 + Missense_Mutation SNP C C A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr17:74396252C>A c.1131G>T c.(1129-1131)caG>caT p.Q377H LUAD 17 74396592 74396592 + Missense_Mutation SNP T T C TCGA-99-8033-01A-11D-2238-08 TCGA-99-8033-10A-01D-2238-08 g.chr17:74396592T>C c.934A>G c.(934-936)Agt>Ggt p.S312G LUAD 17 74398726 74398726 + Missense_Mutation SNP C C T TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr17:74398726C>T c.643G>A c.(643-645)Gac>Aac p.D215N LUAD 17 74398767 74398767 + Missense_Mutation SNP C C A TCGA-86-7711-01A-11D-2063-08 TCGA-86-7711-10A-01D-2063-08 g.chr17:74398767C>A c.602G>T c.(601-603)gGg>gTg p.G201V LUSC 17 74387085 74387085 + Missense_Mutation SNP A A T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr17:74387085A>T c.3818T>A c.(3817-3819)cTg>cAg p.L1273Q LUSC 17 74387585 74387585 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr17:74387585G>A c.3318C>T c.(3316-3318)atC>atT p.I1106I LUSC 17 74391933 74391933 + Missense_Mutation SNP G G A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr17:74391933G>A c.2819C>T c.(2818-2820)tCt>tTt p.S940F LUSC 17 74394450 74394450 + Missense_Mutation SNP C C A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr17:74394450C>A c.1911G>T c.(1909-1911)gaG>gaT p.E637D LUSC 17 74394577 74394577 + Silent SNP C C A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 g.chr17:74394577C>A c.1872G>T c.(1870-1872)ctG>ctT p.L624L LUSC 17 74448907 74448907 + Missense_Mutation SNP C C A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr17:74448907C>A c.317G>T c.(316-318)gGc>gTc p.G106V OV 17 74391853 74391853 + Missense_Mutation SNP T T C TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 g.chr17:74391853T>C c.2899A>G c.(2899-2901)Acc>Gcc p.T967A OV 17 74394418 74394418 + Missense_Mutation SNP T T G TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 g.chr17:74394418T>G c.1943A>C c.(1942-1944)cAc>cCc p.H648P OV 17 74396252 74396252 + Missense_Mutation SNP C C A TCGA-36-2539-01A-01D-1526-09 TCGA-36-2539-10A-01D-1526-09 g.chr17:74396252C>A c.1131G>T c.(1129-1131)caG>caT p.Q377H PAAD 17 74392554 74392554 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:74392554C>T c.2464G>A c.(2464-2466)Gag>Aag p.E822K PRAD 17 74387399 74387399 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:74387399C>T c.3504G>A c.(3502-3504)tcG>tcA p.S1168S PRAD 17 74392306 74392306 + Silent SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr17:74392306G>A c.2712C>T c.(2710-2712)agC>agT p.S904S PRAD 17 74396560 74396560 + Silent SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 g.chr17:74396560G>A c.966C>T c.(964-966)agC>agT p.S322S READ 17 74392240 74392240 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr17:74392240G>A c.2778C>T c.(2776-2778)ggC>ggT p.G926G READ 17 74396331 74396331 + Missense_Mutation SNP T T C TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr17:74396331T>C c.1052A>G c.(1051-1053)gAg>gGg p.E351G READ 17 74397133 74397133 + Missense_Mutation SNP C C T TCGA-AG-A016-01A-01W-A005-10 TCGA-AG-A016-10A-01W-A005-10 g.chr17:74397133C>T c.853G>A c.(853-855)Gtg>Atg p.V285M SARC 17 74387533 74387533 + Missense_Mutation SNP C C G TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 g.chr17:74387533C>G c.3370G>C c.(3370-3372)Gag>Cag p.E1124Q SARC 17 74395724 74395724 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr17:74395724C>T c.1434G>A c.(1432-1434)caG>caA p.Q478Q SKCM 17 74387350 74387350 + Missense_Mutation SNP G G A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 g.chr17:74387350G>A c.3553C>T c.(3553-3555)Cct>Tct p.P1185S SKCM 17 74387359 74387359 + Nonsense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr17:74387359G>A c.3544C>T c.(3544-3546)Caa>Taa p.Q1182* SKCM 17 74387427 74387427 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:74387427G>A c.3476C>T c.(3475-3477)cCc>cTc p.P1159L SKCM 17 74388010 74388010 + Missense_Mutation SNP A A T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr17:74388010A>T c.3131T>A c.(3130-3132)cTg>cAg p.L1044Q SKCM 17 74388154 74388154 + Missense_Mutation SNP G G A TCGA-ER-A19J-06A-11D-A196-08 TCGA-ER-A19J-10A-01D-A198-08 g.chr17:74388154G>A c.2987C>T c.(2986-2988)cCc>cTc p.P996L SKCM 17 74391899 74391899 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr17:74391899G>A c.2853C>T c.(2851-2853)gcC>gcT p.A951A SKCM 17 74392229 74392229 + Missense_Mutation SNP G G A TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr17:74392229G>A c.2789C>T c.(2788-2790)tCc>tTc p.S930F SKCM 17 74392458 74392458 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:74392458G>A c.2560C>T c.(2560-2562)Ctg>Ttg p.L854L SKCM 17 74392713 74392713 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr17:74392713G>A c.2305C>T c.(2305-2307)Cct>Tct p.P769S SKCM 17 74395073 74395073 + Splice_Site SNP C C T TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr17:74395073C>T c.e10-1 SKCM 17 74397134 74397134 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:74397134G>A c.852C>T c.(850-852)ccC>ccT p.P284P SKCM 17 74398146 74398146 + Splice_Site SNP G G A TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr17:74398146G>A c.749C>T c.(748-750)tCg>tTg p.S250L SKCM 17 74401374 74401374 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:74401374G>A c.501C>T c.(499-501)atC>atT p.I167I SKCM 17 74401595 74401595 + Splice_Site SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:74401595G>A c.477C>T c.(475-477)acC>acT p.T159T SKCM 17 74401596 74401596 + Splice_Site SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:74401596G>A c.476C>T c.(475-477)aCc>aTc p.T159I SKCM 17 74401639 74401639 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:74401639G>A c.433C>T c.(433-435)Cgt>Tgt p.R145C

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 17 74383376 74383376 single base substitution C G downstream_gene_variant BLCA-CN 17 74383601 74383601 single base substitution C T downstream_gene_variant BLCA-US 17 74387282 74387282 single base substitution G A downstream_gene_variant BLCA-US 17 74387282 74387282 single base substitution G A synonymous_variant G1207G 3621C>T BLCA-US 17 74387282 74387282 single base substitution G A synonymous_variant G721G 2163C>T BLCA-US 17 74387651 74387651 single base substitution G A downstream_gene_variant BLCA-US 17 74387651 74387651 single base substitution G A synonymous_variant F1084F 3252C>T BLCA-US 17 74387651 74387651 single base substitution G A synonymous_variant F598F 1794C>T BLCA-US 17 74388108 74388108 single base substitution G A downstream_gene_variant BLCA-US 17 74388108 74388108 single base substitution G A synonymous_variant I1011I 3033C>T BLCA-US 17 74388108 74388108 single base substitution G A synonymous_variant I525I 1575C>T BLCA-US 17 74396299 74396299 single base substitution C T downstream_gene_variant BLCA-US 17 74396299 74396299 single base substitution C T exon_variant BLCA-US 17 74396299 74396299 single base substitution C T missense_variant E362K 1084G>A BLCA-US 17 74396299 74396299 single base substitution C T splice_region_variant BLCA-US 17 74396299 74396299 single base substitution C T upstream_gene_variant BOCA-FR 17 74395195 74395195 single base substitution T A downstream_gene_variant BOCA-FR 17 74395195 74395195 single base substitution T A intron_variant BRCA-EU 17 74383058 74383058 single base substitution G C downstream_gene_variant BRCA-EU 17 74384407 74384407 single base substitution G C downstream_gene_variant BRCA-EU 17 74384414 74384414 single base substitution G A downstream_gene_variant BRCA-EU 17 74385923 74385923 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 74386202 74386202 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 74386210 74386210 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 74387081 74387081 single base substitution C T downstream_gene_variant BRCA-EU 17 74387081 74387081 single base substitution C T synonymous_variant T1274T 3822G>A BRCA-EU 17 74387081 74387081 single base substitution C T synonymous_variant T788T 2364G>A BRCA-EU 17 74387357 74387357 single base substitution T C downstream_gene_variant BRCA-EU 17 74387357 74387357 single base substitution T C synonymous_variant Q1182Q 3546A>G BRCA-EU 17 74387357 74387357 single base substitution T C synonymous_variant Q696Q 2088A>G BRCA-EU 17 74387522 74387522 single base substitution G C downstream_gene_variant BRCA-EU 17 74387522 74387522 single base substitution G C missense_variant I1127M 3381C>G BRCA-EU 17 74387522 74387522 single base substitution G C missense_variant I641M 1923C>G BRCA-EU 17 74387788 74387788 single base substitution C T downstream_gene_variant BRCA-EU 17 74387788 74387788 single base substitution C T intron_variant BRCA-EU 17 74388542 74388542 single base substitution C G downstream_gene_variant BRCA-EU 17 74388542 74388542 single base substitution C G intron_variant BRCA-EU 17 74388704 74388704 single base substitution C G downstream_gene_variant BRCA-EU 17 74388704 74388704 single base substitution C G intron_variant BRCA-EU 17 74388723 74388723 single base substitution C T downstream_gene_variant BRCA-EU 17 74388723 74388723 single base substitution C T intron_variant BRCA-EU 17 74389020 74389020 single base substitution G A downstream_gene_variant BRCA-EU 17 74389020 74389020 single base substitution G A intron_variant BRCA-EU 17 74389137 74389137 single base substitution C G downstream_gene_variant BRCA-EU 17 74389137 74389137 single base substitution C G intron_variant BRCA-EU 17 74390712 74390712 single base substitution T A downstream_gene_variant BRCA-EU 17 74390712 74390712 single base substitution T A intron_variant BRCA-EU 17 74392998 74392998 single base substitution T C downstream_gene_variant BRCA-EU 17 74392998 74392998 single base substitution T C intron_variant BRCA-EU 17 74393932 74393932 single base substitution C A downstream_gene_variant BRCA-EU 17 74393932 74393932 single base substitution C A exon_variant BRCA-EU 17 74393932 74393932 single base substitution C A missense_variant S202I 605G>T BRCA-EU 17 74393932 74393932 single base substitution C A missense_variant S688I 2063G>T BRCA-EU 17 74394778 74394778 single base substitution G A downstream_gene_variant BRCA-EU 17 74394778 74394778 single base substitution G A intron_variant BRCA-EU 17 74395982 74395984 deletion of <=200bp CTT - downstream_gene_variant BRCA-EU 17 74395982 74395984 deletion of <=200bp CTT - exon_variant BRCA-EU 17 74395982 74395984 deletion of <=200bp CTT - inframe_deletion K151 BRCA-EU 17 74395982 74395984 deletion of <=200bp CTT - inframe_deletion K392 BRCA-EU 17 74395982 74395984 deletion of <=200bp CTT - upstream_gene_variant BRCA-EU 17 74396885 74396885 single base substitution T G downstream_gene_variant BRCA-EU 17 74396885 74396885 single base substitution T G intron_variant BRCA-EU 17 74396885 74396885 single base substitution T G upstream_gene_variant BRCA-EU 17 74397128 74397128 single base substitution G A downstream_gene_variant BRCA-EU 17 74397128 74397128 single base substitution G A exon_variant BRCA-EU 17 74397128 74397128 single base substitution G A synonymous_variant L286L 858C>T BRCA-EU 17 74397128 74397128 single base substitution G A synonymous_variant L70L 210C>T BRCA-EU 17 74397128 74397128 single base substitution G A upstream_gene_variant BRCA-EU 17 74397502 74397502 single base substitution G C downstream_gene_variant BRCA-EU 17 74397502 74397502 single base substitution G C intron_variant BRCA-EU 17 74397502 74397502 single base substitution G C upstream_gene_variant BRCA-EU 17 74397697 74397697 single base substitution C T downstream_gene_variant BRCA-EU 17 74397697 74397697 single base substitution C T intron_variant BRCA-EU 17 74397697 74397697 single base substitution C T upstream_gene_variant BRCA-EU 17 74399016 74399016 single base substitution C T intron_variant BRCA-EU 17 74399016 74399016 single base substitution C T upstream_gene_variant BRCA-EU 17 74399360 74399360 deletion of <=200bp T - intron_variant BRCA-EU 17 74399360 74399360 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 74399493 74399493 single base substitution G A intron_variant BRCA-EU 17 74399493 74399493 single base substitution G A upstream_gene_variant BRCA-EU 17 74400083 74400083 deletion of <=200bp A - intron_variant BRCA-EU 17 74400083 74400083 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 74401352 74401352 single base substitution C T exon_variant BRCA-EU 17 74401352 74401352 single base substitution C T missense_variant V175I 523G>A BRCA-EU 17 74401352 74401352 single base substitution C T upstream_gene_variant BRCA-EU 17 74404061 74404061 single base substitution C G intron_variant BRCA-EU 17 74404061 74404061 single base substitution C G upstream_gene_variant BRCA-EU 17 74404342 74404342 single base substitution C G intron_variant BRCA-EU 17 74404342 74404342 single base substitution C G upstream_gene_variant BRCA-EU 17 74404408 74404408 single base substitution C T intron_variant BRCA-EU 17 74404408 74404408 single base substitution C T upstream_gene_variant BRCA-EU 17 74405135 74405135 single base substitution C G intron_variant BRCA-EU 17 74405135 74405135 single base substitution C G upstream_gene_variant BRCA-EU 17 74406407 74406407 single base substitution C T intron_variant BRCA-EU 17 74406759 74406759 single base substitution T C intron_variant BRCA-EU 17 74406823 74406823 single base substitution C T intron_variant BRCA-EU 17 74413433 74413433 single base substitution C T intron_variant BRCA-EU 17 74413449 74413449 single base substitution G C intron_variant BRCA-EU 17 74414162 74414162 single base substitution C A intron_variant BRCA-EU 17 74414264 74414264 single base substitution G T intron_variant BRCA-EU 17 74414341 74414341 single base substitution G A intron_variant BRCA-EU 17 74414658 74414658 single base substitution T G intron_variant BRCA-EU 17 74416241 74416241 single base substitution G A intron_variant BRCA-EU 17 74416819 74416819 single base substitution C T intron_variant BRCA-EU 17 74419602 74419602 single base substitution A C intron_variant BRCA-EU 17 74420491 74420538 multiple base substitution (>=2bp and <=200bp) ATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCACGTGATTCGCCCA ATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCCG intron_variant BRCA-EU 17 74421737 74421737 single base substitution T G intron_variant BRCA-EU 17 74421988 74421988 single base substitution T A intron_variant BRCA-EU 17 74422003 74422003 single base substitution C T intron_variant BRCA-EU 17 74422119 74422119 single base substitution C G intron_variant BRCA-EU 17 74422173 74422173 single base substitution C G intron_variant BRCA-EU 17 74425002 74425002 single base substitution G C intron_variant BRCA-EU 17 74427587 74427587 deletion of <=200bp A - intron_variant BRCA-EU 17 74428189 74428189 single base substitution C T intron_variant BRCA-EU 17 74429807 74429807 insertion of <=200bp - G intron_variant BRCA-EU 17 74430084 74430084 single base substitution G A intron_variant BRCA-EU 17 74430285 74430285 single base substitution C G intron_variant BRCA-EU 17 74430444 74430444 single base substitution C G intron_variant BRCA-EU 17 74430474 74430474 single base substitution C G intron_variant BRCA-EU 17 74431797 74431797 single base substitution G C intron_variant BRCA-EU 17 74431872 74431872 single base substitution G T intron_variant BRCA-EU 17 74432434 74432434 deletion of <=200bp T - intron_variant BRCA-EU 17 74432952 74432952 single base substitution G A intron_variant BRCA-EU 17 74433019 74433019 single base substitution G C intron_variant BRCA-EU 17 74433293 74433293 single base substitution G A intron_variant BRCA-EU 17 74433758 74433758 single base substitution C T intron_variant BRCA-EU 17 74435012 74435012 single base substitution C T intron_variant BRCA-EU 17 74435513 74435513 single base substitution A T intron_variant BRCA-EU 17 74437398 74437398 single base substitution C G intron_variant BRCA-EU 17 74438757 74438757 single base substitution G A intron_variant BRCA-EU 17 74439377 74439377 deletion of <=200bp A - intron_variant BRCA-EU 17 74439777 74439777 single base substitution A T intron_variant BRCA-EU 17 74439974 74439974 single base substitution G C intron_variant BRCA-EU 17 74440551 74440551 single base substitution G A intron_variant BRCA-EU 17 74442108 74442108 single base substitution G C intron_variant BRCA-EU 17 74442766 74442766 single base substitution G C intron_variant BRCA-EU 17 74442929 74442929 single base substitution G C intron_variant BRCA-EU 17 74442983 74442983 single base substitution G T intron_variant BRCA-EU 17 74443065 74443065 single base substitution A G intron_variant BRCA-EU 17 74445155 74445155 single base substitution T A intron_variant BRCA-EU 17 74445640 74445640 single base substitution G A intron_variant BRCA-EU 17 74448428 74448428 single base substitution G C intron_variant BRCA-EU 17 74450673 74450673 single base substitution G T upstream_gene_variant BRCA-EU 17 74451855 74451855 single base substitution G T upstream_gene_variant BRCA-EU 17 74452111 74452111 single base substitution A C upstream_gene_variant BRCA-EU 17 74453894 74453894 single base substitution G A upstream_gene_variant BRCA-FR 17 74386121 74386121 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 74404061 74404061 single base substitution C G intron_variant BRCA-FR 17 74404061 74404061 single base substitution C G upstream_gene_variant BRCA-FR 17 74404408 74404408 single base substitution C T intron_variant BRCA-FR 17 74404408 74404408 single base substitution C T upstream_gene_variant BRCA-FR 17 74404879 74404879 single base substitution C A intron_variant BRCA-FR 17 74404879 74404879 single base substitution C A upstream_gene_variant BRCA-FR 17 74406407 74406407 single base substitution C T intron_variant BRCA-FR 17 74413433 74413433 single base substitution C T intron_variant BRCA-FR 17 74415586 74415586 single base substitution T C intron_variant BRCA-FR 17 74416241 74416241 single base substitution G A intron_variant BRCA-FR 17 74430285 74430285 single base substitution C G intron_variant BRCA-FR 17 74430444 74430444 single base substitution C G intron_variant BRCA-FR 17 74437889 74437889 single base substitution G T intron_variant BRCA-FR 17 74438757 74438757 single base substitution G A intron_variant BRCA-FR 17 74440551 74440551 single base substitution G A intron_variant BRCA-FR 17 74450506 74450506 single base substitution G T upstream_gene_variant BRCA-KR 17 74392362 74392362 single base substitution C G downstream_gene_variant BRCA-KR 17 74392362 74392362 single base substitution C G exon_variant BRCA-KR 17 74392362 74392362 single base substitution C G missense_variant E400Q 1198G>C BRCA-KR 17 74392362 74392362 single base substitution C G missense_variant E886Q 2656G>C BRCA-KR 17 74395033 74395033 single base substitution G C downstream_gene_variant BRCA-KR 17 74395033 74395033 single base substitution G C exon_variant BRCA-KR 17 74395033 74395033 single base substitution G C missense_variant D556E 1668C>G BRCA-KR 17 74395033 74395033 single base substitution G C missense_variant D69E 207C>G BRCA-UK 17 74390712 74390712 single base substitution T A downstream_gene_variant BRCA-UK 17 74390712 74390712 single base substitution T A intron_variant BRCA-UK 17 74399016 74399016 single base substitution C T intron_variant BRCA-UK 17 74399016 74399016 single base substitution C T upstream_gene_variant BRCA-UK 17 74432952 74432952 single base substitution G A intron_variant BRCA-UK 17 74439974 74439974 single base substitution G C intron_variant BRCA-UK 17 74445155 74445155 single base substitution T A intron_variant BRCA-US 17 74383309 74383309 single base substitution C T downstream_gene_variant BRCA-US 17 74387082 74387082 single base substitution G A downstream_gene_variant BRCA-US 17 74387082 74387082 single base substitution G A missense_variant T1274M 3821C>T BRCA-US 17 74387082 74387082 single base substitution G A missense_variant T788M 2363C>T BRCA-US 17 74392693 74392693 single base substitution C T downstream_gene_variant BRCA-US 17 74392693 74392693 single base substitution C T exon_variant BRCA-US 17 74392693 74392693 single base substitution C T synonymous_variant V289V 867G>A BRCA-US 17 74392693 74392693 single base substitution C T synonymous_variant V775V 2325G>A BRCA-US 17 74396571 74396571 single base substitution C T downstream_gene_variant BRCA-US 17 74396571 74396571 single base substitution C T exon_variant BRCA-US 17 74396571 74396571 single base substitution C T missense_variant D103N 307G>A BRCA-US 17 74396571 74396571 single base substitution C T missense_variant D319N 955G>A BRCA-US 17 74396571 74396571 single base substitution C T upstream_gene_variant BRCA-US 17 74401326 74401326 single base substitution G A exon_variant BRCA-US 17 74401326 74401326 single base substitution G A synonymous_variant I183I 549C>T BRCA-US 17 74401326 74401326 single base substitution G A upstream_gene_variant BTCA-JP 17 74381976 74381976 single base substitution G A downstream_gene_variant BTCA-JP 17 74382851 74382851 single base substitution T A downstream_gene_variant BTCA-JP 17 74383554 74383554 single base substitution G A downstream_gene_variant BTCA-JP 17 74387218 74387218 single base substitution G T downstream_gene_variant BTCA-JP 17 74387218 74387218 single base substitution G T missense_variant P1229T 3685C>A BTCA-JP 17 74387218 74387218 single base substitution G T missense_variant P743T 2227C>A BTCA-JP 17 74392239 74392239 single base substitution C T downstream_gene_variant BTCA-JP 17 74392239 74392239 single base substitution C T exon_variant BTCA-JP 17 74392239 74392239 single base substitution C T missense_variant E441K 1321G>A BTCA-JP 17 74392239 74392239 single base substitution C T missense_variant E927K 2779G>A BTCA-JP 17 74394708 74394708 single base substitution G A downstream_gene_variant BTCA-JP 17 74394708 74394708 single base substitution G A intron_variant BTCA-JP 17 74395077 74395077 single base substitution G A downstream_gene_variant BTCA-JP 17 74395077 74395077 single base substitution G A splice_region_variant BTCA-JP 17 74398549 74398549 single base substitution G A intron_variant BTCA-JP 17 74398549 74398549 single base substitution G A upstream_gene_variant BTCA-JP 17 74401790 74401790 single base substitution C A intron_variant BTCA-JP 17 74401790 74401790 single base substitution C A upstream_gene_variant CESC-US 17 74381246 74381246 single base substitution G A downstream_gene_variant CESC-US 17 74383215 74383215 single base substitution G C downstream_gene_variant CESC-US 17 74388179 74388179 single base substitution G C downstream_gene_variant CESC-US 17 74388179 74388179 single base substitution G C missense_variant L502V 1504C>G CESC-US 17 74388179 74388179 single base substitution G C missense_variant L988V 2962C>G CESC-US 17 74392782 74392782 single base substitution C T downstream_gene_variant CESC-US 17 74392782 74392782 single base substitution C T exon_variant CESC-US 17 74392782 74392782 single base substitution C T missense_variant G260R 778G>A CESC-US 17 74392782 74392782 single base substitution C T missense_variant G746R 2236G>A CESC-US 17 74394424 74394424 single base substitution G T downstream_gene_variant CESC-US 17 74394424 74394424 single base substitution G T exon_variant CESC-US 17 74394424 74394424 single base substitution G T missense_variant A159D 476C>A CESC-US 17 74394424 74394424 single base substitution G T missense_variant A646D 1937C>A CESC-US 17 74394636 74394636 single base substitution C T downstream_gene_variant CESC-US 17 74394636 74394636 single base substitution C T exon_variant CESC-US 17 74394636 74394636 single base substitution C T missense_variant G118S 352G>A CESC-US 17 74394636 74394636 single base substitution C T missense_variant G605S 1813G>A CESC-US 17 74395865 74395865 single base substitution G T downstream_gene_variant CESC-US 17 74395865 74395865 single base substitution G T exon_variant CESC-US 17 74395865 74395865 single base substitution G T missense_variant S431R 1293C>A CESC-US 17 74395865 74395865 single base substitution G T upstream_gene_variant CLLE-ES 17 74450763 74450763 single base substitution G A upstream_gene_variant CLLE-ES 17 74452949 74452949 single base substitution C T upstream_gene_variant COAD-US 17 74381555 74381555 single base substitution G A downstream_gene_variant COAD-US 17 74381567 74381567 single base substitution G A downstream_gene_variant COAD-US 17 74383414 74383414 deletion of <=200bp G - downstream_gene_variant COAD-US 17 74383475 74383475 single base substitution T C downstream_gene_variant COAD-US 17 74383614 74383614 deletion of <=200bp C - downstream_gene_variant COAD-US 17 74387662 74387662 single base substitution C T downstream_gene_variant COAD-US 17 74387662 74387662 single base substitution C T missense_variant E1081K 3241G>A COAD-US 17 74387662 74387662 single base substitution C T missense_variant E595K 1783G>A COAD-US 17 74388089 74388089 deletion of <=200bp G - downstream_gene_variant COAD-US 17 74388089 74388089 deletion of <=200bp G - frameshift_variant H1018 COAD-US 17 74388089 74388089 deletion of <=200bp G - frameshift_variant H532 COAD-US 17 74392666 74392666 single base substitution G A downstream_gene_variant COAD-US 17 74392666 74392666 single base substitution G A exon_variant COAD-US 17 74392666 74392666 single base substitution G A synonymous_variant A298A 894C>T COAD-US 17 74392666 74392666 single base substitution G A synonymous_variant A784A 2352C>T COAD-US 17 74392837 74392837 single base substitution G A downstream_gene_variant COAD-US 17 74392837 74392837 single base substitution G A exon_variant COAD-US 17 74392837 74392837 single base substitution G A synonymous_variant S241S 723C>T COAD-US 17 74392837 74392837 single base substitution G A synonymous_variant S727S 2181C>T COAD-US 17 74395585 74395585 single base substitution G A downstream_gene_variant COAD-US 17 74395585 74395585 single base substitution G A exon_variant COAD-US 17 74395585 74395585 single base substitution G A missense_variant R38C 112C>T COAD-US 17 74395585 74395585 single base substitution G A missense_variant R525C 1573C>T COAD-US 17 74395585 74395585 single base substitution G A upstream_gene_variant COAD-US 17 74395694 74395694 single base substitution C T downstream_gene_variant COAD-US 17 74395694 74395694 single base substitution C T exon_variant COAD-US 17 74395694 74395694 single base substitution C T synonymous_variant T1T 3G>A COAD-US 17 74395694 74395694 single base substitution C T synonymous_variant T488T 1464G>A COAD-US 17 74395694 74395694 single base substitution C T upstream_gene_variant COAD-US 17 74395759 74395759 single base substitution C A downstream_gene_variant COAD-US 17 74395759 74395759 single base substitution C A exon_variant COAD-US 17 74395759 74395759 single base substitution C A stop_gained E467* 1399G>T COAD-US 17 74395759 74395759 single base substitution C A upstream_gene_variant COAD-US 17 74401380 74401380 single base substitution C T exon_variant COAD-US 17 74401380 74401380 single base substitution C T synonymous_variant T165T 495G>A COAD-US 17 74401380 74401380 single base substitution C T upstream_gene_variant COCA-CN 17 74381692 74381692 single base substitution G A downstream_gene_variant COCA-CN 17 74382075 74382075 single base substitution C T downstream_gene_variant COCA-CN 17 74382560 74382560 single base substitution G A downstream_gene_variant COCA-CN 17 74383215 74383215 single base substitution G A downstream_gene_variant COCA-CN 17 74386957 74386957 single base substitution C T 3_prime_UTR_variant COCA-CN 17 74386957 74386957 single base substitution C T downstream_gene_variant COCA-CN 17 74387218 74387218 single base substitution G A downstream_gene_variant COCA-CN 17 74387218 74387218 single base substitution G A missense_variant P1229S 3685C>T COCA-CN 17 74387218 74387218 single base substitution G A missense_variant P743S 2227C>T COCA-CN 17 74387479 74387479 single base substitution T C downstream_gene_variant COCA-CN 17 74387479 74387479 single base substitution T C missense_variant I1142V 3424A>G COCA-CN 17 74387479 74387479 single base substitution T C missense_variant I656V 1966A>G COCA-CN 17 74388150 74388150 single base substitution G A downstream_gene_variant COCA-CN 17 74388150 74388150 single base substitution G A synonymous_variant Y511Y 1533C>T COCA-CN 17 74388150 74388150 single base substitution G A synonymous_variant Y997Y 2991C>T COCA-CN 17 74392543 74392543 single base substitution C A downstream_gene_variant COCA-CN 17 74392543 74392543 single base substitution C A exon_variant COCA-CN 17 74392543 74392543 single base substitution C A missense_variant K339N 1017G>T COCA-CN 17 74392543 74392543 single base substitution C A missense_variant K825N 2475G>T COCA-CN 17 74395048 74395048 single base substitution C T downstream_gene_variant COCA-CN 17 74395048 74395048 single base substitution C T exon_variant COCA-CN 17 74395048 74395048 single base substitution C T synonymous_variant T551T 1653G>A COCA-CN 17 74395048 74395048 single base substitution C T synonymous_variant T64T 192G>A COCA-CN 17 74397026 74397026 single base substitution G A downstream_gene_variant COCA-CN 17 74397026 74397026 single base substitution G A intron_variant COCA-CN 17 74397026 74397026 single base substitution G A upstream_gene_variant COCA-CN 17 74397223 74397223 single base substitution C T downstream_gene_variant COCA-CN 17 74397223 74397223 single base substitution C T exon_variant COCA-CN 17 74397223 74397223 single base substitution C T missense_variant D255N 763G>A COCA-CN 17 74397223 74397223 single base substitution C T missense_variant D39N 115G>A COCA-CN 17 74397223 74397223 single base substitution C T upstream_gene_variant COCA-CN 17 74398240 74398240 single base substitution C A intron_variant COCA-CN 17 74398240 74398240 single base substitution C A upstream_gene_variant COCA-CN 17 74401405 74401405 single base substitution A G splice_region_variant COCA-CN 17 74401405 74401405 single base substitution A G upstream_gene_variant COCA-CN 17 74401451 74401451 single base substitution A G intron_variant COCA-CN 17 74401451 74401451 single base substitution A G upstream_gene_variant EOPC-DE 17 74384666 74384666 single base substitution C A downstream_gene_variant ESAD-UK 17 74382538 74382538 single base substitution T C downstream_gene_variant ESAD-UK 17 74382674 74382674 single base substitution G A downstream_gene_variant ESAD-UK 17 74384444 74384444 single base substitution C T downstream_gene_variant ESAD-UK 17 74384667 74384667 insertion of <=200bp - A downstream_gene_variant ESAD-UK 17 74385926 74385926 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 17 74387584 74387584 single base substitution G A downstream_gene_variant ESAD-UK 17 74387584 74387584 single base substitution G A missense_variant R1107C 3319C>T ESAD-UK 17 74387584 74387584 single base substitution G A missense_variant R621C 1861C>T ESAD-UK 17 74393194 74393194 single base substitution G A downstream_gene_variant ESAD-UK 17 74393194 74393194 single base substitution G A intron_variant ESAD-UK 17 74395995 74395995 single base substitution C T downstream_gene_variant ESAD-UK 17 74395995 74395995 single base substitution C T exon_variant ESAD-UK 17 74395995 74395995 single base substitution C T missense_variant R147H 440G>A ESAD-UK 17 74395995 74395995 single base substitution C T missense_variant R388H 1163G>A ESAD-UK 17 74395995 74395995 single base substitution C T upstream_gene_variant ESAD-UK 17 74396634 74396634 single base substitution G T downstream_gene_variant ESAD-UK 17 74396634 74396634 single base substitution G T splice_region_variant ESAD-UK 17 74396634 74396634 single base substitution G T upstream_gene_variant ESAD-UK 17 74398986 74398986 single base substitution G T intron_variant ESAD-UK 17 74398986 74398986 single base substitution G T upstream_gene_variant ESAD-UK 17 74399058 74399058 single base substitution G A intron_variant ESAD-UK 17 74399058 74399058 single base substitution G A upstream_gene_variant ESAD-UK 17 74404023 74404023 single base substitution G A intron_variant ESAD-UK 17 74404023 74404023 single base substitution G A upstream_gene_variant ESAD-UK 17 74404190 74404190 single base substitution T A intron_variant ESAD-UK 17 74404190 74404190 single base substitution T A upstream_gene_variant ESAD-UK 17 74406202 74406202 single base substitution C T intron_variant ESAD-UK 17 74406202 74406202 single base substitution C T upstream_gene_variant ESAD-UK 17 74407995 74407995 single base substitution G C intron_variant ESAD-UK 17 74409776 74409776 single base substitution G A intron_variant ESAD-UK 17 74413195 74413195 single base substitution G C intron_variant ESAD-UK 17 74413980 74413980 single base substitution T A intron_variant ESAD-UK 17 74414642 74414642 single base substitution G A intron_variant ESAD-UK 17 74416169 74416169 single base substitution G T intron_variant ESAD-UK 17 74416640 74416640 single base substitution C T intron_variant ESAD-UK 17 74418558 74418558 single base substitution C T intron_variant ESAD-UK 17 74419899 74419899 single base substitution C T intron_variant ESAD-UK 17 74420091 74420091 single base substitution G A intron_variant ESAD-UK 17 74420942 74420942 single base substitution T A intron_variant ESAD-UK 17 74423299 74423299 single base substitution C G intron_variant ESAD-UK 17 74427592 74427592 single base substitution A C intron_variant ESAD-UK 17 74427794 74427794 deletion of <=200bp G - intron_variant ESAD-UK 17 74428338 74428338 single base substitution C T intron_variant ESAD-UK 17 74431710 74431710 single base substitution G A intron_variant ESAD-UK 17 74431831 74431831 single base substitution C T intron_variant ESAD-UK 17 74433407 74433407 single base substitution C T intron_variant ESAD-UK 17 74434718 74434718 single base substitution C T intron_variant ESAD-UK 17 74437934 74437934 single base substitution A T intron_variant ESAD-UK 17 74439866 74439866 single base substitution A C intron_variant ESAD-UK 17 74440318 74440318 single base substitution C T intron_variant ESAD-UK 17 74441030 74441031 deletion of <=200bp CA - intron_variant ESAD-UK 17 74441448 74441448 single base substitution A C intron_variant ESAD-UK 17 74444360 74444360 single base substitution A G intron_variant ESAD-UK 17 74447666 74447666 single base substitution G A intron_variant ESAD-UK 17 74451204 74451204 single base substitution G A upstream_gene_variant ESAD-UK 17 74451845 74451845 single base substitution C A upstream_gene_variant ESAD-UK 17 74452073 74452073 single base substitution C T upstream_gene_variant ESCA-CN 17 74383092 74383092 single base substitution C G downstream_gene_variant ESCA-CN 17 74392236 74392236 single base substitution C T downstream_gene_variant ESCA-CN 17 74392236 74392236 single base substitution C T exon_variant ESCA-CN 17 74392236 74392236 single base substitution C T missense_variant V442I 1324G>A ESCA-CN 17 74392236 74392236 single base substitution C T missense_variant V928I 2782G>A ESCA-CN 17 74392282 74392282 single base substitution C G downstream_gene_variant ESCA-CN 17 74392282 74392282 single base substitution C G exon_variant ESCA-CN 17 74392282 74392282 single base substitution C G missense_variant Q426H 1278G>C ESCA-CN 17 74392282 74392282 single base substitution C G missense_variant Q912H 2736G>C ESCA-CN 17 74392341 74392341 single base substitution C T downstream_gene_variant ESCA-CN 17 74392341 74392341 single base substitution C T exon_variant ESCA-CN 17 74392341 74392341 single base substitution C T missense_variant E407K 1219G>A ESCA-CN 17 74392341 74392341 single base substitution C T missense_variant E893K 2677G>A ESCA-CN 17 74394995 74394995 single base substitution C T downstream_gene_variant ESCA-CN 17 74394995 74394995 single base substitution C T exon_variant ESCA-CN 17 74394995 74394995 single base substitution C T missense_variant R569H 1706G>A ESCA-CN 17 74394995 74394995 single base substitution C T missense_variant R82H 245G>A ESCA-CN 17 74426693 74426693 single base substitution G A intron_variant GBM-US 17 74395033 74395033 single base substitution G A downstream_gene_variant GBM-US 17 74395033 74395033 single base substitution G A exon_variant GBM-US 17 74395033 74395033 single base substitution G A synonymous_variant D556D 1668C>T GBM-US 17 74395033 74395033 single base substitution G A synonymous_variant D69D 207C>T KIRC-US 17 74387548 74387548 insertion of <=200bp - C downstream_gene_variant KIRC-US 17 74387548 74387548 insertion of <=200bp - C frameshift_variant P1119R? KIRC-US 17 74387548 74387548 insertion of <=200bp - C frameshift_variant P633R? KIRC-US 17 74392558 74392558 single base substitution G T downstream_gene_variant KIRC-US 17 74392558 74392558 single base substitution G T exon_variant KIRC-US 17 74392558 74392558 single base substitution G T synonymous_variant I334I 1002C>A KIRC-US 17 74392558 74392558 single base substitution G T synonymous_variant I820I 2460C>A KIRC-US 17 74392798 74392798 single base substitution G A downstream_gene_variant KIRC-US 17 74392798 74392798 single base substitution G A exon_variant KIRC-US 17 74392798 74392798 single base substitution G A synonymous_variant S254S 762C>T KIRC-US 17 74392798 74392798 single base substitution G A synonymous_variant S740S 2220C>T KIRC-US 17 74398736 74398736 single base substitution C T exon_variant KIRC-US 17 74398736 74398736 single base substitution C T synonymous_variant G211G 633G>A KIRC-US 17 74398736 74398736 single base substitution C T upstream_gene_variant KIRP-US 17 74383269 74383269 single base substitution C G downstream_gene_variant LAML-KR 17 74391302 74391302 single base substitution A G downstream_gene_variant LAML-KR 17 74391302 74391302 single base substitution A G intron_variant LICA-CN 17 74393965 74393965 single base substitution G T downstream_gene_variant LICA-CN 17 74393965 74393965 single base substitution G T exon_variant LICA-CN 17 74393965 74393965 single base substitution G T stop_gained S191* 572C>A LICA-CN 17 74393965 74393965 single base substitution G T stop_gained S677* 2030C>A LICA-CN 17 74396523 74396523 single base substitution T A downstream_gene_variant LICA-CN 17 74396523 74396523 single base substitution T A missense_variant R119W 355A>T LICA-CN 17 74396523 74396523 single base substitution T A missense_variant R335W 1003A>T LICA-CN 17 74396523 74396523 single base substitution T A splice_region_variant LICA-CN 17 74396523 74396523 single base substitution T A upstream_gene_variant LICA-FR 17 74386138 74386138 single base substitution C T 3_prime_UTR_variant LICA-FR 17 74387063 74387063 single base substitution C A downstream_gene_variant LICA-FR 17 74387063 74387063 single base substitution C A synonymous_variant L1280L 3840G>T LICA-FR 17 74387063 74387063 single base substitution C A synonymous_variant L794L 2382G>T LICA-FR 17 74387348 74387348 single base substitution A T downstream_gene_variant LICA-FR 17 74387348 74387348 single base substitution A T synonymous_variant P1185P 3555T>A LICA-FR 17 74387348 74387348 single base substitution A T synonymous_variant P699P 2097T>A LICA-FR 17 74388091 74388091 single base substitution G A downstream_gene_variant LICA-FR 17 74388091 74388091 single base substitution G A missense_variant P1017L 3050C>T LICA-FR 17 74388091 74388091 single base substitution G A missense_variant P531L 1592C>T LICA-FR 17 74390541 74390541 single base substitution C A downstream_gene_variant LICA-FR 17 74390541 74390541 single base substitution C A intron_variant LICA-FR 17 74448971 74448973 deletion of <=200bp CGC - disruptive_inframe_deletion GE84E LICA-FR 17 74448971 74448973 deletion of <=200bp CGC - exon_variant LICA-FR 17 74448975 74448975 single base substitution G C exon_variant LICA-FR 17 74448975 74448975 single base substitution G C missense_variant H83Q 249C>G LIHC-US 17 74382080 74382096 deletion of <=200bp GGCGTGCTCCCGCGGCC - downstream_gene_variant LIHC-US 17 74383503 74383503 single base substitution C G downstream_gene_variant LIHC-US 17 74387574 74387574 single base substitution T A downstream_gene_variant LIHC-US 17 74387574 74387574 single base substitution T A missense_variant Q1110L 3329A>T LIHC-US 17 74387574 74387574 single base substitution T A missense_variant Q624L 1871A>T LINC-JP 17 74382331 74382331 single base substitution C T downstream_gene_variant LINC-JP 17 74382405 74382405 single base substitution C A downstream_gene_variant LINC-JP 17 74383624 74383624 single base substitution G T downstream_gene_variant LINC-JP 17 74386094 74386094 single base substitution T C 3_prime_UTR_variant LINC-JP 17 74387587 74387587 deletion of <=200bp T - downstream_gene_variant LINC-JP 17 74387587 74387587 deletion of <=200bp T - frameshift_variant I1106 LINC-JP 17 74387587 74387587 deletion of <=200bp T - frameshift_variant I620 LINC-JP 17 74388729 74388729 single base substitution T C downstream_gene_variant LINC-JP 17 74388729 74388729 single base substitution T C intron_variant LINC-JP 17 74392083 74392083 single base substitution G T downstream_gene_variant LINC-JP 17 74392083 74392083 single base substitution G T exon_variant LINC-JP 17 74392083 74392083 single base substitution G T intron_variant LINC-JP 17 74395082 74395082 deletion of <=200bp C - downstream_gene_variant LINC-JP 17 74395082 74395082 deletion of <=200bp C - intron_variant LINC-JP 17 74410467 74410467 single base substitution A T intron_variant LINC-JP 17 74418840 74418840 single base substitution C T intron_variant LINC-JP 17 74429195 74429195 single base substitution C A intron_variant LINC-JP 17 74433248 74433248 single base substitution G A intron_variant LINC-JP 17 74435408 74435408 single base substitution A C intron_variant LINC-JP 17 74439677 74439677 deletion of <=200bp T - intron_variant LIRI-JP 17 74384654 74384654 single base substitution C A downstream_gene_variant LIRI-JP 17 74386013 74386015 deletion of <=200bp TCA - 3_prime_UTR_variant LIRI-JP 17 74388339 74388339 single base substitution A C downstream_gene_variant LIRI-JP 17 74388339 74388339 single base substitution A C intron_variant LIRI-JP 17 74391895 74391895 single base substitution T C downstream_gene_variant LIRI-JP 17 74391895 74391895 single base substitution T C exon_variant LIRI-JP 17 74391895 74391895 single base substitution T C missense_variant K467E 1399A>G LIRI-JP 17 74391895 74391895 single base substitution T C missense_variant K953E 2857A>G LIRI-JP 17 74393167 74393167 single base substitution T A downstream_gene_variant LIRI-JP 17 74393167 74393167 single base substitution T A intron_variant LIRI-JP 17 74394260 74394260 single base substitution T G downstream_gene_variant LIRI-JP 17 74394260 74394260 single base substitution T G intron_variant LIRI-JP 17 74394533 74394533 single base substitution G A downstream_gene_variant LIRI-JP 17 74394533 74394533 single base substitution G A intron_variant LIRI-JP 17 74395115 74395115 single base substitution C A downstream_gene_variant LIRI-JP 17 74395115 74395115 single base substitution C A intron_variant LIRI-JP 17 74398887 74398887 single base substitution C A intron_variant LIRI-JP 17 74398887 74398887 single base substitution C A upstream_gene_variant LIRI-JP 17 74399221 74399221 single base substitution C T intron_variant LIRI-JP 17 74399221 74399221 single base substitution C T upstream_gene_variant LIRI-JP 17 74399318 74399318 single base substitution C A intron_variant LIRI-JP 17 74399318 74399318 single base substitution C A upstream_gene_variant LIRI-JP 17 74403203 74403203 insertion of <=200bp - AGCATGGG intron_variant LIRI-JP 17 74403203 74403203 insertion of <=200bp - AGCATGGG upstream_gene_variant LIRI-JP 17 74406415 74406415 single base substitution A C intron_variant LIRI-JP 17 74408046 74408046 single base substitution T C intron_variant LIRI-JP 17 74409495 74409495 single base substitution T C intron_variant LIRI-JP 17 74410064 74410064 single base substitution G A intron_variant LIRI-JP 17 74410111 74410111 single base substitution T C intron_variant LIRI-JP 17 74410198 74410198 single base substitution T C intron_variant LIRI-JP 17 74410243 74410243 single base substitution C T intron_variant LIRI-JP 17 74410953 74410953 single base substitution T A intron_variant LIRI-JP 17 74411809 74411809 single base substitution C T intron_variant LIRI-JP 17 74413264 74413264 single base substitution C T intron_variant LIRI-JP 17 74414084 74414084 single base substitution G C intron_variant LIRI-JP 17 74415134 74415134 single base substitution C A intron_variant LIRI-JP 17 74415632 74415632 single base substitution C T intron_variant LIRI-JP 17 74416248 74416248 single base substitution C A intron_variant LIRI-JP 17 74416356 74416356 single base substitution C T intron_variant LIRI-JP 17 74417234 74417234 single base substitution G A intron_variant LIRI-JP 17 74419087 74419087 single base substitution G A intron_variant LIRI-JP 17 74421372 74421372 single base substitution A G intron_variant LIRI-JP 17 74427685 74427685 single base substitution T C intron_variant LIRI-JP 17 74429156 74429156 single base substitution C A intron_variant LIRI-JP 17 74431177 74431177 single base substitution A C intron_variant LIRI-JP 17 74432056 74432056 single base substitution C T intron_variant LIRI-JP 17 74432104 74432104 single base substitution G A intron_variant LIRI-JP 17 74435094 74435094 single base substitution T A intron_variant LIRI-JP 17 74437470 74437470 single base substitution C T intron_variant LIRI-JP 17 74439137 74439137 single base substitution C A intron_variant LIRI-JP 17 74441909 74441909 single base substitution C A intron_variant LIRI-JP 17 74442842 74442842 single base substitution T C intron_variant LIRI-JP 17 74445336 74445346 deletion of <=200bp ACTCCACATTA - intron_variant LIRI-JP 17 74445380 74445380 single base substitution G A intron_variant LIRI-JP 17 74447213 74447213 single base substitution T C intron_variant LIRI-JP 17 74449840 74449840 single base substitution G A upstream_gene_variant LIRI-JP 17 74449970 74449970 single base substitution T C upstream_gene_variant LIRI-JP 17 74452644 74452644 single base substitution G A upstream_gene_variant LIRI-JP 17 74452820 74452820 single base substitution A T upstream_gene_variant LIRI-JP 17 74452963 74452963 single base substitution G A upstream_gene_variant LIRI-JP 17 74453232 74453232 single base substitution C T upstream_gene_variant LIRI-JP 17 74454061 74454061 single base substitution T A upstream_gene_variant LUSC-KR 17 74387284 74387284 single base substitution C T downstream_gene_variant LUSC-KR 17 74387284 74387284 single base substitution C T missense_variant G1207S 3619G>A LUSC-KR 17 74387284 74387284 single base substitution C T missense_variant G721S 2161G>A LUSC-KR 17 74395952 74395952 single base substitution T A downstream_gene_variant LUSC-KR 17 74395952 74395952 single base substitution T A exon_variant LUSC-KR 17 74395952 74395952 single base substitution T A synonymous_variant P161P 483A>T LUSC-KR 17 74395952 74395952 single base substitution T A synonymous_variant P402P 1206A>T LUSC-KR 17 74395952 74395952 single base substitution T A upstream_gene_variant LUSC-KR 17 74397009 74397009 single base substitution G T downstream_gene_variant LUSC-KR 17 74397009 74397009 single base substitution G T intron_variant LUSC-KR 17 74397009 74397009 single base substitution G T upstream_gene_variant LUSC-KR 17 74420308 74420308 single base substitution G T intron_variant LUSC-KR 17 74422481 74422481 single base substitution C A intron_variant LUSC-KR 17 74426582 74426582 single base substitution T C intron_variant LUSC-KR 17 74431842 74431842 single base substitution C G intron_variant LUSC-KR 17 74432025 74432025 single base substitution C G intron_variant LUSC-KR 17 74432334 74432334 single base substitution T C intron_variant LUSC-KR 17 74436953 74436953 single base substitution C T intron_variant LUSC-KR 17 74443217 74443217 single base substitution G C intron_variant LUSC-KR 17 74450760 74450760 single base substitution C T upstream_gene_variant LUSC-KR 17 74454124 74454124 single base substitution G C upstream_gene_variant LUSC-US 17 74382930 74382930 single base substitution C T downstream_gene_variant LUSC-US 17 74387085 74387085 single base substitution A T downstream_gene_variant LUSC-US 17 74387085 74387085 single base substitution A T missense_variant L1273Q 3818T>A LUSC-US 17 74387085 74387085 single base substitution A T missense_variant L787Q 2360T>A LUSC-US 17 74387585 74387585 single base substitution G A downstream_gene_variant LUSC-US 17 74387585 74387585 single base substitution G A synonymous_variant I1106I 3318C>T LUSC-US 17 74387585 74387585 single base substitution G A synonymous_variant I620I 1860C>T LUSC-US 17 74391933 74391933 single base substitution G A downstream_gene_variant LUSC-US 17 74391933 74391933 single base substitution G A exon_variant LUSC-US 17 74391933 74391933 single base substitution G A missense_variant S454F 1361C>T LUSC-US 17 74391933 74391933 single base substitution G A missense_variant S940F 2819C>T LUSC-US 17 74394450 74394450 single base substitution C A downstream_gene_variant LUSC-US 17 74394450 74394450 single base substitution C A exon_variant LUSC-US 17 74394450 74394450 single base substitution C A missense_variant E150D 450G>T LUSC-US 17 74394450 74394450 single base substitution C A missense_variant E637D 1911G>T LUSC-US 17 74394577 74394577 single base substitution C A downstream_gene_variant LUSC-US 17 74394577 74394577 single base substitution C A exon_variant LUSC-US 17 74394577 74394577 single base substitution C A synonymous_variant L137L 411G>T LUSC-US 17 74394577 74394577 single base substitution C A synonymous_variant L624L 1872G>T LUSC-US 17 74448907 74448907 single base substitution C A exon_variant LUSC-US 17 74448907 74448907 single base substitution C A missense_variant G106V 317G>T MALY-DE 17 74395628 74395628 single base substitution C T downstream_gene_variant MALY-DE 17 74395628 74395628 single base substitution C T exon_variant MALY-DE 17 74395628 74395628 single base substitution C T synonymous_variant T23T 69G>A MALY-DE 17 74395628 74395628 single base substitution C T synonymous_variant T510T 1530G>A MALY-DE 17 74395628 74395628 single base substitution C T upstream_gene_variant MALY-DE 17 74395734 74395734 single base substitution G T downstream_gene_variant MALY-DE 17 74395734 74395734 single base substitution G T exon_variant MALY-DE 17 74395734 74395734 single base substitution G T stop_gained S475* 1424C>A MALY-DE 17 74395734 74395734 single base substitution G T upstream_gene_variant MALY-DE 17 74398332 74398332 single base substitution T A intron_variant MALY-DE 17 74398332 74398332 single base substitution T A upstream_gene_variant MALY-DE 17 74403914 74403914 single base substitution A T intron_variant MALY-DE 17 74403914 74403914 single base substitution A T upstream_gene_variant MALY-DE 17 74411878 74411879 deletion of <=200bp TG - intron_variant MALY-DE 17 74416187 74416187 single base substitution G A intron_variant MALY-DE 17 74424834 74424834 single base substitution T A intron_variant MALY-DE 17 74426878 74426878 single base substitution A T intron_variant MALY-DE 17 74442677 74442677 single base substitution T C intron_variant MALY-DE 17 74446319 74446319 single base substitution A G intron_variant MALY-DE 17 74447857 74447858 deletion of <=200bp GG - intron_variant MALY-DE 17 74448750 74448750 single base substitution C T intron_variant MALY-DE 17 74452102 74452102 single base substitution G C upstream_gene_variant MELA-AU 17 74380855 74380855 single base substitution G A downstream_gene_variant MELA-AU 17 74380978 74380978 single base substitution G A downstream_gene_variant MELA-AU 17 74382187 74382187 single base substitution G A downstream_gene_variant MELA-AU 17 74382196 74382196 single base substitution C T downstream_gene_variant MELA-AU 17 74382232 74382232 single base substitution G A downstream_gene_variant MELA-AU 17 74382236 74382236 single base substitution G A downstream_gene_variant MELA-AU 17 74382427 74382427 single base substitution G A downstream_gene_variant MELA-AU 17 74382445 74382445 single base substitution C T downstream_gene_variant MELA-AU 17 74382446 74382446 single base substitution C T downstream_gene_variant MELA-AU 17 74383519 74383519 single base substitution G A downstream_gene_variant MELA-AU 17 74383724 74383724 single base substitution G T downstream_gene_variant MELA-AU 17 74383795 74383795 single base substitution G A downstream_gene_variant MELA-AU 17 74383799 74383799 single base substitution A T downstream_gene_variant MELA-AU 17 74385549 74385549 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74385549 74385549 single base substitution G A downstream_gene_variant MELA-AU 17 74386054 74386054 single base substitution C T 3_prime_UTR_variant MELA-AU 17 74386459 74386459 single base substitution T G 3_prime_UTR_variant MELA-AU 17 74386459 74386459 single base substitution T G downstream_gene_variant MELA-AU 17 74386942 74386942 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74386942 74386942 single base substitution G A downstream_gene_variant MELA-AU 17 74386961 74386961 single base substitution G A 3_prime_UTR_variant MELA-AU 17 74386961 74386961 single base substitution G A downstream_gene_variant MELA-AU 17 74387096 74387096 single base substitution G A downstream_gene_variant MELA-AU 17 74387096 74387096 single base substitution G A synonymous_variant I1269I 3807C>T MELA-AU 17 74387096 74387096 single base substitution G A synonymous_variant I783I 2349C>T MELA-AU 17 74387223 74387223 single base substitution G A downstream_gene_variant MELA-AU 17 74387223 74387223 single base substitution G A missense_variant S1227L 3680C>T MELA-AU 17 74387223 74387223 single base substitution G A missense_variant S741L 2222C>T MELA-AU 17 74387400 74387400 single base substitution G T downstream_gene_variant MELA-AU 17 74387400 74387400 single base substitution G T stop_gained S1168* 3503C>A MELA-AU 17 74387400 74387400 single base substitution G T stop_gained S682* 2045C>A MELA-AU 17 74387620 74387620 single base substitution C T downstream_gene_variant MELA-AU 17 74387620 74387620 single base substitution C T missense_variant E1095K 3283G>A MELA-AU 17 74387620 74387620 single base substitution C T missense_variant E609K 1825G>A MELA-AU 17 74387845 74387845 single base substitution G A downstream_gene_variant MELA-AU 17 74387845 74387845 single base substitution G A missense_variant S1067F 3200C>T MELA-AU 17 74387845 74387845 single base substitution G A missense_variant S581F 1742C>T MELA-AU 17 74388212 74388212 single base substitution G A downstream_gene_variant MELA-AU 17 74388212 74388212 single base substitution G A intron_variant MELA-AU 17 74388325 74388325 single base substitution G A downstream_gene_variant MELA-AU 17 74388325 74388325 single base substitution G A intron_variant MELA-AU 17 74389020 74389020 single base substitution G A downstream_gene_variant MELA-AU 17 74389020 74389020 single base substitution G A intron_variant MELA-AU 17 74389880 74389881 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 74389880 74389881 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74390030 74390030 single base substitution G A downstream_gene_variant MELA-AU 17 74390030 74390030 single base substitution G A intron_variant MELA-AU 17 74390032 74390032 single base substitution G A downstream_gene_variant MELA-AU 17 74390032 74390032 single base substitution G A intron_variant MELA-AU 17 74390119 74390119 single base substitution G A downstream_gene_variant MELA-AU 17 74390119 74390119 single base substitution G A intron_variant MELA-AU 17 74390351 74390351 single base substitution G A downstream_gene_variant MELA-AU 17 74390351 74390351 single base substitution G A intron_variant MELA-AU 17 74390786 74390786 single base substitution C T downstream_gene_variant MELA-AU 17 74390786 74390786 single base substitution C T intron_variant MELA-AU 17 74390896 74390896 single base substitution G A downstream_gene_variant MELA-AU 17 74390896 74390896 single base substitution G A intron_variant MELA-AU 17 74391020 74391020 single base substitution G A downstream_gene_variant MELA-AU 17 74391020 74391020 single base substitution G A intron_variant MELA-AU 17 74391592 74391592 single base substitution G A downstream_gene_variant MELA-AU 17 74391592 74391592 single base substitution G A exon_variant MELA-AU 17 74391592 74391592 single base substitution G A intron_variant MELA-AU 17 74391899 74391899 single base substitution G A downstream_gene_variant MELA-AU 17 74391899 74391899 single base substitution G A exon_variant MELA-AU 17 74391899 74391899 single base substitution G A synonymous_variant A465A 1395C>T MELA-AU 17 74391899 74391899 single base substitution G A synonymous_variant A951A 2853C>T MELA-AU 17 74392078 74392078 single base substitution G A downstream_gene_variant MELA-AU 17 74392078 74392078 single base substitution G A exon_variant MELA-AU 17 74392078 74392078 single base substitution G A intron_variant MELA-AU 17 74392229 74392229 single base substitution G A downstream_gene_variant MELA-AU 17 74392229 74392229 single base substitution G A exon_variant MELA-AU 17 74392229 74392229 single base substitution G A missense_variant S444F 1331C>T MELA-AU 17 74392229 74392229 single base substitution G A missense_variant S930F 2789C>T MELA-AU 17 74393239 74393239 single base substitution G A downstream_gene_variant MELA-AU 17 74393239 74393239 single base substitution G A intron_variant MELA-AU 17 74393275 74393275 single base substitution G A downstream_gene_variant MELA-AU 17 74393275 74393275 single base substitution G A intron_variant MELA-AU 17 74393343 74393343 single base substitution T C downstream_gene_variant MELA-AU 17 74393343 74393343 single base substitution T C intron_variant MELA-AU 17 74393585 74393585 single base substitution G A downstream_gene_variant MELA-AU 17 74393585 74393585 single base substitution G A intron_variant MELA-AU 17 74394406 74394406 single base substitution C T downstream_gene_variant MELA-AU 17 74394406 74394406 single base substitution C T exon_variant MELA-AU 17 74394406 74394406 single base substitution C T missense_variant R165K 494G>A MELA-AU 17 74394406 74394406 single base substitution C T missense_variant R652K 1955G>A MELA-AU 17 74394826 74394826 single base substitution G A downstream_gene_variant MELA-AU 17 74394826 74394826 single base substitution G A intron_variant MELA-AU 17 74394892 74394893 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 74394892 74394893 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74395073 74395073 single base substitution C T downstream_gene_variant MELA-AU 17 74395073 74395073 single base substitution C T splice_acceptor_variant MELA-AU 17 74395265 74395265 single base substitution G A downstream_gene_variant MELA-AU 17 74395265 74395265 single base substitution G A intron_variant MELA-AU 17 74395467 74395467 single base substitution G A downstream_gene_variant MELA-AU 17 74395467 74395467 single base substitution G A intron_variant MELA-AU 17 74395467 74395467 single base substitution G A upstream_gene_variant MELA-AU 17 74395829 74395829 single base substitution C T downstream_gene_variant MELA-AU 17 74395829 74395829 single base substitution C T exon_variant MELA-AU 17 74395829 74395829 single base substitution C T synonymous_variant V443V 1329G>A MELA-AU 17 74395829 74395829 single base substitution C T upstream_gene_variant MELA-AU 17 74396993 74396993 single base substitution G A downstream_gene_variant MELA-AU 17 74396993 74396993 single base substitution G A intron_variant MELA-AU 17 74396993 74396993 single base substitution G A upstream_gene_variant MELA-AU 17 74397018 74397018 single base substitution G A downstream_gene_variant MELA-AU 17 74397018 74397018 single base substitution G A intron_variant MELA-AU 17 74397018 74397018 single base substitution G A upstream_gene_variant MELA-AU 17 74397024 74397024 single base substitution G A downstream_gene_variant MELA-AU 17 74397024 74397024 single base substitution G A intron_variant MELA-AU 17 74397024 74397024 single base substitution G A upstream_gene_variant MELA-AU 17 74397683 74397683 single base substitution G A downstream_gene_variant MELA-AU 17 74397683 74397683 single base substitution G A intron_variant MELA-AU 17 74397683 74397683 single base substitution G A upstream_gene_variant MELA-AU 17 74398245 74398245 single base substitution G T intron_variant MELA-AU 17 74398245 74398245 single base substitution G T upstream_gene_variant MELA-AU 17 74398901 74398901 single base substitution G A intron_variant MELA-AU 17 74398901 74398901 single base substitution G A upstream_gene_variant MELA-AU 17 74399024 74399024 single base substitution G A intron_variant MELA-AU 17 74399024 74399024 single base substitution G A upstream_gene_variant MELA-AU 17 74399044 74399044 single base substitution G A intron_variant MELA-AU 17 74399044 74399044 single base substitution G A upstream_gene_variant MELA-AU 17 74399201 74399201 single base substitution G A intron_variant MELA-AU 17 74399201 74399201 single base substitution G A upstream_gene_variant MELA-AU 17 74400080 74400080 single base substitution G A intron_variant MELA-AU 17 74400080 74400080 single base substitution G A upstream_gene_variant MELA-AU 17 74400438 74400438 single base substitution C T intron_variant MELA-AU 17 74400438 74400438 single base substitution C T upstream_gene_variant MELA-AU 17 74400862 74400862 single base substitution G A intron_variant MELA-AU 17 74400862 74400862 single base substitution G A upstream_gene_variant MELA-AU 17 74400933 74400933 single base substitution G A intron_variant MELA-AU 17 74400933 74400933 single base substitution G A upstream_gene_variant MELA-AU 17 74401031 74401031 single base substitution G A intron_variant MELA-AU 17 74401031 74401031 single base substitution G A upstream_gene_variant MELA-AU 17 74401079 74401079 single base substitution G A intron_variant MELA-AU 17 74401079 74401079 single base substitution G A upstream_gene_variant MELA-AU 17 74401551 74401552 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74401551 74401552 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 74401569 74401569 single base substitution G A intron_variant MELA-AU 17 74401569 74401569 single base substitution G A upstream_gene_variant MELA-AU 17 74401726 74401726 single base substitution C T intron_variant MELA-AU 17 74401726 74401726 single base substitution C T upstream_gene_variant MELA-AU 17 74401944 74401944 single base substitution T A intron_variant MELA-AU 17 74401944 74401944 single base substitution T A upstream_gene_variant MELA-AU 17 74402076 74402076 single base substitution G A intron_variant MELA-AU 17 74402076 74402076 single base substitution G A upstream_gene_variant MELA-AU 17 74402245 74402245 single base substitution G A intron_variant MELA-AU 17 74402245 74402245 single base substitution G A upstream_gene_variant MELA-AU 17 74403695 74403695 single base substitution A G intron_variant MELA-AU 17 74403695 74403695 single base substitution A G upstream_gene_variant MELA-AU 17 74404093 74404093 single base substitution G A intron_variant MELA-AU 17 74404093 74404093 single base substitution G A upstream_gene_variant MELA-AU 17 74404692 74404692 single base substitution C T intron_variant MELA-AU 17 74404692 74404692 single base substitution C T upstream_gene_variant MELA-AU 17 74404957 74404957 single base substitution G A intron_variant MELA-AU 17 74404957 74404957 single base substitution G A upstream_gene_variant MELA-AU 17 74405613 74405613 single base substitution G T intron_variant MELA-AU 17 74405613 74405613 single base substitution G T upstream_gene_variant MELA-AU 17 74405922 74405922 single base substitution C T intron_variant MELA-AU 17 74405922 74405922 single base substitution C T upstream_gene_variant MELA-AU 17 74405989 74405989 single base substitution G A intron_variant MELA-AU 17 74405989 74405989 single base substitution G A upstream_gene_variant MELA-AU 17 74406876 74406876 single base substitution G A intron_variant MELA-AU 17 74407021 74407021 single base substitution A G intron_variant MELA-AU 17 74407071 74407071 single base substitution G A intron_variant MELA-AU 17 74407559 74407559 single base substitution G A intron_variant MELA-AU 17 74407670 74407670 single base substitution G A intron_variant MELA-AU 17 74407927 74407927 single base substitution G A intron_variant MELA-AU 17 74408022 74408022 single base substitution C T intron_variant MELA-AU 17 74408035 74408035 single base substitution G A intron_variant MELA-AU 17 74409255 74409255 single base substitution G A intron_variant MELA-AU 17 74410427 74410427 single base substitution G T intron_variant MELA-AU 17 74410562 74410562 single base substitution G A intron_variant MELA-AU 17 74411024 74411024 single base substitution G A intron_variant MELA-AU 17 74411484 74411485 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74411708 74411708 single base substitution G A intron_variant MELA-AU 17 74411788 74411788 single base substitution G A intron_variant MELA-AU 17 74412010 74412010 single base substitution T C intron_variant MELA-AU 17 74412532 74412532 single base substitution G A intron_variant MELA-AU 17 74412771 74412772 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74412785 74412785 single base substitution C A intron_variant MELA-AU 17 74412914 74412915 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 17 74413532 74413532 single base substitution G A intron_variant MELA-AU 17 74414342 74414342 single base substitution G A intron_variant MELA-AU 17 74414472 74414472 single base substitution A G intron_variant MELA-AU 17 74414614 74414614 single base substitution G A intron_variant MELA-AU 17 74414908 74414908 single base substitution C T intron_variant MELA-AU 17 74414993 74414993 single base substitution G A intron_variant MELA-AU 17 74414994 74414994 single base substitution G A intron_variant MELA-AU 17 74415137 74415137 single base substitution T C intron_variant MELA-AU 17 74415145 74415145 single base substitution A C intron_variant MELA-AU 17 74415277 74415277 single base substitution G A intron_variant MELA-AU 17 74415902 74415902 single base substitution T A intron_variant MELA-AU 17 74415908 74415908 single base substitution G A intron_variant MELA-AU 17 74416597 74416597 single base substitution G A intron_variant MELA-AU 17 74416647 74416647 single base substitution G A intron_variant MELA-AU 17 74416794 74416794 single base substitution G A intron_variant MELA-AU 17 74417472 74417472 single base substitution G A intron_variant MELA-AU 17 74417502 74417503 multiple base substitution (>=2bp and <=200bp) TG AA intron_variant MELA-AU 17 74417631 74417631 single base substitution G A intron_variant MELA-AU 17 74417846 74417846 single base substitution G T intron_variant MELA-AU 17 74417847 74417847 single base substitution G A intron_variant MELA-AU 17 74417943 74417943 single base substitution G A intron_variant MELA-AU 17 74418224 74418224 single base substitution A C intron_variant MELA-AU 17 74418608 74418608 single base substitution A G intron_variant MELA-AU 17 74419259 74419259 single base substitution G A intron_variant MELA-AU 17 74419368 74419369 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 74419668 74419668 single base substitution G A intron_variant MELA-AU 17 74419803 74419803 single base substitution T G intron_variant MELA-AU 17 74419821 74419821 single base substitution A G intron_variant MELA-AU 17 74420715 74420715 single base substitution G A intron_variant MELA-AU 17 74420826 74420826 single base substitution G A intron_variant MELA-AU 17 74421876 74421876 single base substitution G A intron_variant MELA-AU 17 74422450 74422450 single base substitution G A intron_variant MELA-AU 17 74422689 74422689 single base substitution A C intron_variant MELA-AU 17 74423044 74423044 single base substitution G A intron_variant MELA-AU 17 74423112 74423112 single base substitution T G intron_variant MELA-AU 17 74423290 74423290 single base substitution G A intron_variant MELA-AU 17 74424101 74424101 single base substitution G A intron_variant MELA-AU 17 74424165 74424165 single base substitution G A intron_variant MELA-AU 17 74424622 74424622 single base substitution C T intron_variant MELA-AU 17 74425551 74425551 single base substitution G A intron_variant MELA-AU 17 74425707 74425707 single base substitution G A intron_variant MELA-AU 17 74425722 74425722 single base substitution A C intron_variant MELA-AU 17 74425731 74425731 single base substitution G A intron_variant MELA-AU 17 74425790 74425790 single base substitution G T intron_variant MELA-AU 17 74426063 74426063 single base substitution C T intron_variant MELA-AU 17 74426547 74426547 single base substitution A T intron_variant MELA-AU 17 74427506 74427506 single base substitution G A intron_variant MELA-AU 17 74428987 74428987 single base substitution G A intron_variant MELA-AU 17 74429242 74429242 single base substitution G A intron_variant MELA-AU 17 74429519 74429519 single base substitution G A intron_variant MELA-AU 17 74429708 74429708 single base substitution G A intron_variant MELA-AU 17 74429949 74429949 single base substitution T G intron_variant MELA-AU 17 74430087 74430087 single base substitution G T intron_variant MELA-AU 17 74430253 74430253 single base substitution C T intron_variant MELA-AU 17 74430313 74430313 single base substitution G A intron_variant MELA-AU 17 74430682 74430682 single base substitution C T intron_variant MELA-AU 17 74430973 74430973 single base substitution C A intron_variant MELA-AU 17 74431099 74431099 single base substitution G T intron_variant MELA-AU 17 74431224 74431224 single base substitution G A intron_variant MELA-AU 17 74431633 74431633 single base substitution G A intron_variant MELA-AU 17 74431791 74431791 single base substitution C G intron_variant MELA-AU 17 74432367 74432367 single base substitution G A intron_variant MELA-AU 17 74432982 74432982 single base substitution G A intron_variant MELA-AU 17 74433465 74433465 single base substitution G A intron_variant MELA-AU 17 74433595 74433595 single base substitution G A intron_variant MELA-AU 17 74433982 74433982 single base substitution G C intron_variant MELA-AU 17 74435832 74435832 single base substitution G A intron_variant MELA-AU 17 74435965 74435965 single base substitution G A intron_variant MELA-AU 17 74436153 74436153 single base substitution G A intron_variant MELA-AU 17 74436209 74436209 single base substitution G A intron_variant MELA-AU 17 74437233 74437233 single base substitution G A intron_variant MELA-AU 17 74437972 74437973 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 74438097 74438097 single base substitution G A intron_variant MELA-AU 17 74439053 74439053 single base substitution G A intron_variant MELA-AU 17 74439337 74439337 single base substitution C T intron_variant MELA-AU 17 74439682 74439682 single base substitution T G intron_variant MELA-AU 17 74439700 74439700 single base substitution G A intron_variant MELA-AU 17 74440217 74440217 single base substitution C T intron_variant MELA-AU 17 74440874 74440874 single base substitution A C intron_variant MELA-AU 17 74441039 74441039 single base substitution A G intron_variant MELA-AU 17 74441332 74441332 single base substitution A G intron_variant MELA-AU 17 74441382 74441382 single base substitution C T intron_variant MELA-AU 17 74441692 74441692 single base substitution C T intron_variant MELA-AU 17 74442104 74442104 single base substitution A G intron_variant MELA-AU 17 74442262 74442262 single base substitution G A intron_variant MELA-AU 17 74443221 74443221 single base substitution G A intron_variant MELA-AU 17 74443845 74443845 single base substitution C T intron_variant MELA-AU 17 74444294 74444294 single base substitution G A intron_variant MELA-AU 17 74444480 74444480 single base substitution A G intron_variant MELA-AU 17 74444572 74444572 single base substitution G A intron_variant MELA-AU 17 74444718 74444718 single base substitution G A intron_variant MELA-AU 17 74444815 74444815 single base substitution G A intron_variant MELA-AU 17 74445415 74445415 single base substitution G A intron_variant MELA-AU 17 74445863 74445863 single base substitution G A intron_variant MELA-AU 17 74446280 74446280 single base substitution C T intron_variant MELA-AU 17 74446287 74446287 single base substitution G A intron_variant MELA-AU 17 74446626 74446626 single base substitution G A intron_variant MELA-AU 17 74446996 74446996 single base substitution C T intron_variant MELA-AU 17 74447252 74447252 single base substitution C T intron_variant MELA-AU 17 74447555 74447555 single base substitution G A intron_variant MELA-AU 17 74448187 74448187 single base substitution G A intron_variant MELA-AU 17 74448578 74448578 single base substitution G A intron_variant MELA-AU 17 74449282 74449282 single base substitution G A 5_prime_UTR_variant MELA-AU 17 74449282 74449282 single base substitution G A upstream_gene_variant MELA-AU 17 74449306 74449307 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 74449505 74449505 single base substitution G A upstream_gene_variant MELA-AU 17 74450346 74450346 single base substitution C A upstream_gene_variant MELA-AU 17 74450364 74450364 single base substitution C T upstream_gene_variant MELA-AU 17 74450535 74450535 single base substitution C T upstream_gene_variant MELA-AU 17 74450980 74450980 single base substitution G A upstream_gene_variant MELA-AU 17 74450986 74450986 single base substitution G A upstream_gene_variant MELA-AU 17 74450993 74450993 single base substitution G A upstream_gene_variant MELA-AU 17 74451698 74451698 single base substitution G A upstream_gene_variant MELA-AU 17 74451712 74451712 single base substitution T C upstream_gene_variant MELA-AU 17 74452584 74452584 single base substitution G A upstream_gene_variant MELA-AU 17 74453142 74453142 single base substitution C T upstream_gene_variant MELA-AU 17 74453260 74453260 single base substitution G A upstream_gene_variant MELA-AU 17 74453317 74453317 single base substitution G A upstream_gene_variant MELA-AU 17 74454025 74454025 single base substitution G A upstream_gene_variant ORCA-IN 17 74382586 74382586 single base substitution C A downstream_gene_variant ORCA-IN 17 74383390 74383390 single base substitution G T downstream_gene_variant ORCA-IN 17 74389453 74389453 single base substitution C T downstream_gene_variant ORCA-IN 17 74389453 74389453 single base substitution C T intron_variant ORCA-IN 17 74396227 74396227 single base substitution C A downstream_gene_variant ORCA-IN 17 74396227 74396227 single base substitution C A intron_variant ORCA-IN 17 74396227 74396227 single base substitution C A splice_donor_variant ORCA-IN 17 74396227 74396227 single base substitution C A upstream_gene_variant ORCA-IN 17 74418063 74418063 single base substitution C G intron_variant ORCA-IN 17 74427279 74427279 single base substitution C A intron_variant ORCA-IN 17 74448993 74448993 single base substitution C A exon_variant ORCA-IN 17 74448993 74448993 single base substitution C A synonymous_variant G77G 231G>T ORCA-IN 17 74449013 74449013 single base substitution G A exon_variant ORCA-IN 17 74449013 74449013 single base substitution G A missense_variant R71C 211C>T OV-AU 17 74381693 74381693 single base substitution A G downstream_gene_variant OV-AU 17 74384592 74384592 single base substitution G C downstream_gene_variant OV-AU 17 74392070 74392070 single base substitution C A downstream_gene_variant OV-AU 17 74392070 74392070 single base substitution C A exon_variant OV-AU 17 74392070 74392070 single base substitution C A intron_variant OV-AU 17 74392879 74392879 single base substitution C A downstream_gene_variant OV-AU 17 74392879 74392879 single base substitution C A exon_variant OV-AU 17 74392879 74392879 single base substitution C A missense_variant E227D 681G>T OV-AU 17 74392879 74392879 single base substitution C A missense_variant E713D 2139G>T OV-AU 17 74405715 74405715 single base substitution A G intron_variant OV-AU 17 74405715 74405715 single base substitution A G upstream_gene_variant OV-AU 17 74411091 74411091 single base substitution G C intron_variant OV-AU 17 74416964 74416964 single base substitution A G intron_variant OV-AU 17 74418150 74418150 single base substitution A G intron_variant OV-AU 17 74426078 74426078 single base substitution A T intron_variant OV-AU 17 74431483 74431483 single base substitution T C intron_variant OV-AU 17 74442146 74442146 single base substitution G A intron_variant OV-AU 17 74447318 74447318 single base substitution G C intron_variant PACA-AU 17 74385759 74385759 single base substitution C A 3_prime_UTR_variant PACA-AU 17 74385759 74385759 single base substitution C A downstream_gene_variant PACA-AU 17 74385760 74385760 single base substitution C A 3_prime_UTR_variant PACA-AU 17 74385760 74385760 single base substitution C A downstream_gene_variant PACA-AU 17 74387331 74387331 single base substitution G A downstream_gene_variant PACA-AU 17 74387331 74387331 single base substitution G A missense_variant A1191V 3572C>T PACA-AU 17 74387331 74387331 single base substitution G A missense_variant A705V 2114C>T PACA-AU 17 74391216 74391216 single base substitution C T downstream_gene_variant PACA-AU 17 74391216 74391216 single base substitution C T intron_variant PACA-AU 17 74400000 74400020 deletion of <=200bp GACCATCCAAGCAACAGAACA - intron_variant PACA-AU 17 74400000 74400020 deletion of <=200bp GACCATCCAAGCAACAGAACA - upstream_gene_variant PACA-AU 17 74416370 74416370 single base substitution A G intron_variant PACA-AU 17 74434223 74434223 single base substitution T A intron_variant PACA-AU 17 74436146 74436146 single base substitution G A intron_variant PACA-AU 17 74436469 74436469 single base substitution G A intron_variant PACA-AU 17 74438481 74438481 single base substitution G C intron_variant PACA-AU 17 74441956 74441956 single base substitution C T intron_variant PACA-AU 17 74445942 74445942 single base substitution C T intron_variant PACA-AU 17 74452090 74452090 single base substitution G A upstream_gene_variant PACA-AU 17 74453135 74453135 single base substitution T G upstream_gene_variant PACA-CA 17 74381586 74381586 single base substitution G C downstream_gene_variant PACA-CA 17 74381587 74381587 single base substitution G T downstream_gene_variant PACA-CA 17 74386935 74386935 single base substitution G T 3_prime_UTR_variant PACA-CA 17 74386935 74386935 single base substitution G T downstream_gene_variant PACA-CA 17 74387135 74387135 insertion of <=200bp - A downstream_gene_variant PACA-CA 17 74387135 74387135 insertion of <=200bp - A frameshift_variant F1256F? PACA-CA 17 74387135 74387135 insertion of <=200bp - A frameshift_variant F770F? PACA-CA 17 74387650 74387650 single base substitution C T downstream_gene_variant PACA-CA 17 74387650 74387650 single base substitution C T missense_variant D1085N 3253G>A PACA-CA 17 74387650 74387650 single base substitution C T missense_variant D599N 1795G>A PACA-CA 17 74388158 74388158 single base substitution T C downstream_gene_variant PACA-CA 17 74388158 74388158 single base substitution T C missense_variant T509A 1525A>G PACA-CA 17 74388158 74388158 single base substitution T C missense_variant T995A 2983A>G PACA-CA 17 74396485 74396485 single base substitution C T downstream_gene_variant PACA-CA 17 74396485 74396485 single base substitution C T intron_variant PACA-CA 17 74396485 74396485 single base substitution C T upstream_gene_variant PACA-CA 17 74397597 74397597 single base substitution T A downstream_gene_variant PACA-CA 17 74397597 74397597 single base substitution T A intron_variant PACA-CA 17 74397597 74397597 single base substitution T A upstream_gene_variant PACA-CA 17 74398603 74398603 single base substitution G A intron_variant PACA-CA 17 74398603 74398603 single base substitution G A upstream_gene_variant PACA-CA 17 74399943 74399943 single base substitution G A intron_variant PACA-CA 17 74399943 74399943 single base substitution G A upstream_gene_variant PACA-CA 17 74401555 74401555 single base substitution G A intron_variant PACA-CA 17 74401555 74401555 single base substitution G A upstream_gene_variant PACA-CA 17 74403314 74403314 single base substitution T C intron_variant PACA-CA 17 74403314 74403314 single base substitution T C upstream_gene_variant PACA-CA 17 74404205 74404205 single base substitution C T intron_variant PACA-CA 17 74404205 74404205 single base substitution C T upstream_gene_variant PACA-CA 17 74407976 74407976 single base substitution G A intron_variant PACA-CA 17 74408848 74408848 single base substitution T C intron_variant PACA-CA 17 74413209 74413209 single base substitution C T intron_variant PACA-CA 17 74413839 74413839 single base substitution C T intron_variant PACA-CA 17 74413899 74413899 single base substitution G A intron_variant PACA-CA 17 74415144 74415144 single base substitution C T intron_variant PACA-CA 17 74415440 74415440 single base substitution C G intron_variant PACA-CA 17 74415732 74415732 single base substitution C A intron_variant PACA-CA 17 74419690 74419690 single base substitution G A intron_variant PACA-CA 17 74423150 74423150 single base substitution G C intron_variant PACA-CA 17 74425129 74425129 single base substitution G A intron_variant PACA-CA 17 74425906 74425906 single base substitution C A intron_variant PACA-CA 17 74427096 74427096 single base substitution G A intron_variant PACA-CA 17 74428610 74428611 deletion of <=200bp TG - intron_variant PACA-CA 17 74436048 74436048 single base substitution C A intron_variant PACA-CA 17 74438606 74438606 single base substitution T C intron_variant PACA-CA 17 74445318 74445318 single base substitution C T intron_variant PACA-CA 17 74445618 74445618 single base substitution C T intron_variant PACA-CA 17 74449243 74449243 single base substitution C A 5_prime_UTR_variant PACA-CA 17 74449243 74449243 single base substitution C A upstream_gene_variant PACA-CA 17 74450285 74450285 single base substitution G A upstream_gene_variant PACA-CA 17 74453966 74453966 single base substitution A C upstream_gene_variant PAEN-AU 17 74412195 74412195 single base substitution A G intron_variant PAEN-AU 17 74431126 74431126 single base substitution G C intron_variant PAEN-IT 17 74412553 74412553 single base substitution G A intron_variant PAEN-IT 17 74420700 74420700 single base substitution T C intron_variant PAEN-IT 17 74422809 74422809 single base substitution C T intron_variant PAEN-IT 17 74450684 74450684 single base substitution C A upstream_gene_variant PBCA-DE 17 74384666 74384666 single base substitution C A downstream_gene_variant PBCA-DE 17 74385877 74385877 insertion of <=200bp - T 3_prime_UTR_variant PBCA-DE 17 74385877 74385877 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 74388846 74388846 single base substitution C T downstream_gene_variant PBCA-DE 17 74388846 74388846 single base substitution C T intron_variant PBCA-DE 17 74389185 74389185 insertion of <=200bp - C downstream_gene_variant PBCA-DE 17 74389185 74389185 insertion of <=200bp - C intron_variant PBCA-DE 17 74391397 74391397 single base substitution G A downstream_gene_variant PBCA-DE 17 74391397 74391397 single base substitution G A intron_variant PBCA-DE 17 74394763 74394763 single base substitution C G downstream_gene_variant PBCA-DE 17 74394763 74394763 single base substitution C G intron_variant PBCA-DE 17 74395995 74395995 single base substitution C T downstream_gene_variant PBCA-DE 17 74395995 74395995 single base substitution C T exon_variant PBCA-DE 17 74395995 74395995 single base substitution C T missense_variant R147H 440G>A PBCA-DE 17 74395995 74395995 single base substitution C T missense_variant R388H 1163G>A PBCA-DE 17 74395995 74395995 single base substitution C T upstream_gene_variant PBCA-DE 17 74403434 74403434 single base substitution C T intron_variant PBCA-DE 17 74403434 74403434 single base substitution C T upstream_gene_variant PBCA-DE 17 74404092 74404092 single base substitution C T intron_variant PBCA-DE 17 74404092 74404092 single base substitution C T upstream_gene_variant PBCA-DE 17 74415942 74415942 single base substitution C T intron_variant PBCA-DE 17 74417456 74417456 insertion of <=200bp - T intron_variant PBCA-DE 17 74418530 74418530 single base substitution C G intron_variant PBCA-DE 17 74419948 74419948 insertion of <=200bp - G intron_variant PBCA-DE 17 74421262 74421262 single base substitution C T intron_variant PBCA-DE 17 74426715 74426715 single base substitution G A intron_variant PBCA-DE 17 74432334 74432334 single base substitution T A intron_variant PBCA-DE 17 74432686 74432686 single base substitution C T intron_variant PBCA-DE 17 74444362 74444362 single base substitution G A intron_variant PBCA-DE 17 74444760 74444760 single base substitution A G intron_variant PBCA-DE 17 74451706 74451706 single base substitution A T upstream_gene_variant PRAD-CA 17 74384334 74384334 single base substitution G A downstream_gene_variant PRAD-CA 17 74409943 74409943 single base substitution T G intron_variant PRAD-CA 17 74412056 74412056 single base substitution C T intron_variant PRAD-CA 17 74413619 74413619 single base substitution T C intron_variant PRAD-CA 17 74421406 74421406 single base substitution T C intron_variant PRAD-CA 17 74431499 74431499 single base substitution T C intron_variant PRAD-CA 17 74432792 74432792 single base substitution A C intron_variant PRAD-CA 17 74437058 74437058 single base substitution C A intron_variant PRAD-CA 17 74442413 74442413 single base substitution T C intron_variant PRAD-UK 17 74382128 74382128 single base substitution G C downstream_gene_variant PRAD-UK 17 74390395 74390395 insertion of <=200bp - TAA downstream_gene_variant PRAD-UK 17 74390395 74390395 insertion of <=200bp - TAA intron_variant PRAD-UK 17 74393615 74393615 single base substitution G C downstream_gene_variant PRAD-UK 17 74393615 74393615 single base substitution G C intron_variant PRAD-UK 17 74420373 74420374 deletion of <=200bp CT - intron_variant PRAD-UK 17 74423979 74423979 single base substitution G A intron_variant PRAD-UK 17 74428132 74428132 single base substitution A C intron_variant PRAD-UK 17 74431298 74431298 single base substitution A G intron_variant PRAD-US 17 74392306 74392306 single base substitution G A downstream_gene_variant PRAD-US 17 74392306 74392306 single base substitution G A exon_variant PRAD-US 17 74392306 74392306 single base substitution G A synonymous_variant S418S 1254C>T PRAD-US 17 74392306 74392306 single base substitution G A synonymous_variant S904S 2712C>T PRAD-US 17 74396560 74396560 single base substitution G A downstream_gene_variant PRAD-US 17 74396560 74396560 single base substitution G A exon_variant PRAD-US 17 74396560 74396560 single base substitution G A synonymous_variant S106S 318C>T PRAD-US 17 74396560 74396560 single base substitution G A synonymous_variant S322S 966C>T PRAD-US 17 74396560 74396560 single base substitution G A upstream_gene_variant READ-US 17 74381555 74381555 single base substitution G A downstream_gene_variant READ-US 17 74381567 74381567 single base substitution G A downstream_gene_variant READ-US 17 74391933 74391933 single base substitution G T downstream_gene_variant READ-US 17 74391933 74391933 single base substitution G T exon_variant READ-US 17 74391933 74391933 single base substitution G T missense_variant S454Y 1361C>A READ-US 17 74391933 74391933 single base substitution G T missense_variant S940Y 2819C>A READ-US 17 74392240 74392240 single base substitution G A downstream_gene_variant READ-US 17 74392240 74392240 single base substitution G A exon_variant READ-US 17 74392240 74392240 single base substitution G A synonymous_variant G440G 1320C>T READ-US 17 74392240 74392240 single base substitution G A synonymous_variant G926G 2778C>T RECA-EU 17 74400242 74400242 single base substitution T A intron_variant RECA-EU 17 74400242 74400242 single base substitution T A upstream_gene_variant RECA-EU 17 74409952 74409952 single base substitution A T intron_variant RECA-EU 17 74417877 74417877 single base substitution G T intron_variant RECA-EU 17 74417936 74417936 single base substitution C A intron_variant RECA-EU 17 74419926 74419926 single base substitution G A intron_variant RECA-EU 17 74437216 74437216 single base substitution G T intron_variant RECA-EU 17 74442496 74442496 single base substitution G A intron_variant RECA-EU 17 74442497 74442497 single base substitution A G intron_variant RECA-EU 17 74444362 74444362 single base substitution G A intron_variant RECA-EU 17 74447020 74447020 single base substitution C T intron_variant SKCA-BR 17 74380869 74380869 single base substitution A C downstream_gene_variant SKCA-BR 17 74385591 74385591 single base substitution C A 3_prime_UTR_variant SKCA-BR 17 74385591 74385591 single base substitution C A downstream_gene_variant SKCA-BR 17 74386097 74386097 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 74386794 74386794 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 74386794 74386794 single base substitution G A downstream_gene_variant SKCA-BR 17 74388325 74388325 single base substitution G A downstream_gene_variant SKCA-BR 17 74388325 74388325 single base substitution G A intron_variant SKCA-BR 17 74390119 74390119 single base substitution G A downstream_gene_variant SKCA-BR 17 74390119 74390119 single base substitution G A intron_variant SKCA-BR 17 74398012 74398012 single base substitution A C exon_variant SKCA-BR 17 74398012 74398012 single base substitution A C intron_variant SKCA-BR 17 74398012 74398012 single base substitution A C upstream_gene_variant SKCA-BR 17 74400067 74400067 single base substitution C T intron_variant SKCA-BR 17 74400067 74400067 single base substitution C T upstream_gene_variant SKCA-BR 17 74404958 74404958 single base substitution G A intron_variant SKCA-BR 17 74404958 74404958 single base substitution G A upstream_gene_variant SKCA-BR 17 74407118 74407118 single base substitution T G intron_variant SKCA-BR 17 74407134 74407134 single base substitution T G intron_variant SKCA-BR 17 74408379 74408379 single base substitution G A intron_variant SKCA-BR 17 74408909 74408909 single base substitution G A intron_variant SKCA-BR 17 74409161 74409161 single base substitution G A intron_variant SKCA-BR 17 74411877 74411877 insertion of <=200bp - CTCTGTGTGTG intron_variant SKCA-BR 17 74411879 74411879 single base substitution G C intron_variant SKCA-BR 17 74413662 74413662 single base substitution C A intron_variant SKCA-BR 17 74413677 74413677 single base substitution A T intron_variant SKCA-BR 17 74415205 74415205 insertion of <=200bp - ATTT intron_variant SKCA-BR 17 74415220 74415220 single base substitution A G intron_variant SKCA-BR 17 74417539 74417539 single base substitution C T intron_variant SKCA-BR 17 74419308 74419308 single base substitution G A intron_variant SKCA-BR 17 74423167 74423167 single base substitution C A intron_variant SKCA-BR 17 74426056 74426056 single base substitution G A intron_variant SKCA-BR 17 74427169 74427169 single base substitution A C intron_variant SKCA-BR 17 74428280 74428280 single base substitution A C intron_variant SKCA-BR 17 74428744 74428744 single base substitution A C intron_variant SKCA-BR 17 74429689 74429691 deletion of <=200bp CTT - intron_variant SKCA-BR 17 74430616 74430616 single base substitution A T intron_variant SKCA-BR 17 74431144 74431144 single base substitution G A intron_variant SKCA-BR 17 74431489 74431499 deletion of <=200bp CACACACACAT - intron_variant SKCA-BR 17 74431493 74431499 deletion of <=200bp CACACAT - intron_variant SKCA-BR 17 74433231 74433231 insertion of <=200bp - TA intron_variant SKCA-BR 17 74433553 74433553 insertion of <=200bp - GA intron_variant SKCA-BR 17 74435451 74435451 single base substitution G A intron_variant SKCA-BR 17 74436432 74436432 single base substitution G A intron_variant SKCA-BR 17 74436612 74436612 single base substitution G A intron_variant SKCA-BR 17 74437563 74437563 single base substitution T C intron_variant SKCA-BR 17 74440618 74440618 single base substitution G A intron_variant SKCA-BR 17 74442149 74442149 single base substitution C T intron_variant SKCA-BR 17 74442208 74442208 single base substitution C T intron_variant SKCA-BR 17 74443264 74443264 single base substitution C G intron_variant SKCA-BR 17 74445033 74445033 single base substitution G A intron_variant SKCA-BR 17 74446076 74446076 single base substitution G A intron_variant SKCA-BR 17 74446604 74446604 single base substitution A C intron_variant SKCA-BR 17 74446607 74446607 single base substitution A C intron_variant SKCA-BR 17 74447090 74447090 single base substitution C T intron_variant SKCA-BR 17 74447672 74447672 single base substitution C T intron_variant SKCA-BR 17 74448766 74448766 single base substitution A C intron_variant SKCA-BR 17 74448790 74448790 single base substitution G C intron_variant SKCA-BR 17 74449499 74449499 single base substitution A G upstream_gene_variant SKCA-BR 17 74449668 74449668 single base substitution C T upstream_gene_variant SKCA-BR 17 74452416 74452419 deletion of <=200bp GAAA - upstream_gene_variant SKCA-BR 17 74452934 74452934 single base substitution A G upstream_gene_variant SKCA-BR 17 74453098 74453098 single base substitution A T upstream_gene_variant SKCA-BR 17 74453995 74453995 single base substitution G A upstream_gene_variant SKCM-US 17 74383547 74383547 single base substitution G A downstream_gene_variant SKCM-US 17 74383656 74383656 single base substitution G A downstream_gene_variant SKCM-US 17 74387350 74387350 single base substitution G A downstream_gene_variant SKCM-US 17 74387350 74387350 single base substitution G A missense_variant P1185S 3553C>T SKCM-US 17 74387350 74387350 single base substitution G A missense_variant P699S 2095C>T SKCM-US 17 74387359 74387359 single base substitution G A downstream_gene_variant SKCM-US 17 74387359 74387359 single base substitution G A stop_gained Q1182* 3544C>T SKCM-US 17 74387359 74387359 single base substitution G A stop_gained Q696* 2086C>T SKCM-US 17 74387427 74387427 single base substitution G A downstream_gene_variant SKCM-US 17 74387427 74387427 single base substitution G A missense_variant P1159L 3476C>T SKCM-US 17 74387427 74387427 single base substitution G A missense_variant P673L 2018C>T SKCM-US 17 74388010 74388010 single base substitution A T downstream_gene_variant SKCM-US 17 74388010 74388010 single base substitution A T missense_variant L1044Q 3131T>A SKCM-US 17 74388010 74388010 single base substitution A T missense_variant L558Q 1673T>A SKCM-US 17 74388154 74388154 single base substitution G A downstream_gene_variant SKCM-US 17 74388154 74388154 single base substitution G A missense_variant P510L 1529C>T SKCM-US 17 74388154 74388154 single base substitution G A missense_variant P996L 2987C>T SKCM-US 17 74391899 74391899 single base substitution G A downstream_gene_variant SKCM-US 17 74391899 74391899 single base substitution G A exon_variant SKCM-US 17 74391899 74391899 single base substitution G A synonymous_variant A465A 1395C>T SKCM-US 17 74391899 74391899 single base substitution G A synonymous_variant A951A 2853C>T SKCM-US 17 74392229 74392229 single base substitution G A downstream_gene_variant SKCM-US 17 74392229 74392229 single base substitution G A exon_variant SKCM-US 17 74392229 74392229 single base substitution G A missense_variant S444F 1331C>T SKCM-US 17 74392229 74392229 single base substitution G A missense_variant S930F 2789C>T SKCM-US 17 74392458 74392458 single base substitution G A downstream_gene_variant SKCM-US 17 74392458 74392458 single base substitution G A exon_variant SKCM-US 17 74392458 74392458 single base substitution G A synonymous_variant L368L 1102C>T SKCM-US 17 74392458 74392458 single base substitution G A synonymous_variant L854L 2560C>T SKCM-US 17 74392713 74392713 single base substitution G A downstream_gene_variant SKCM-US 17 74392713 74392713 single base substitution G A exon_variant SKCM-US 17 74392713 74392713 single base substitution G A missense_variant P283S 847C>T SKCM-US 17 74392713 74392713 single base substitution G A missense_variant P769S 2305C>T SKCM-US 17 74395863 74395863 single base substitution G A downstream_gene_variant SKCM-US 17 74395863 74395863 single base substitution G A exon_variant SKCM-US 17 74395863 74395863 single base substitution G A missense_variant P432L 1295C>T SKCM-US 17 74395863 74395863 single base substitution G A upstream_gene_variant SKCM-US 17 74396354 74396354 single base substitution G A downstream_gene_variant SKCM-US 17 74396354 74396354 single base substitution G A exon_variant SKCM-US 17 74396354 74396354 single base substitution G A synonymous_variant D127D 381C>T SKCM-US 17 74396354 74396354 single base substitution G A synonymous_variant D343D 1029C>T SKCM-US 17 74396354 74396354 single base substitution G A upstream_gene_variant SKCM-US 17 74396598 74396598 single base substitution T C downstream_gene_variant SKCM-US 17 74396598 74396598 single base substitution T C exon_variant SKCM-US 17 74396598 74396598 single base substitution T C missense_variant T310A 928A>G SKCM-US 17 74396598 74396598 single base substitution T C missense_variant T94A 280A>G SKCM-US 17 74396598 74396598 single base substitution T C upstream_gene_variant SKCM-US 17 74397134 74397134 single base substitution G A downstream_gene_variant SKCM-US 17 74397134 74397134 single base substitution G A exon_variant SKCM-US 17 74397134 74397134 single base substitution G A synonymous_variant P284P 852C>T SKCM-US 17 74397134 74397134 single base substitution G A synonymous_variant P68P 204C>T SKCM-US 17 74397134 74397134 single base substitution G A upstream_gene_variant SKCM-US 17 74398146 74398146 single base substitution G A exon_variant SKCM-US 17 74398146 74398146 single base substitution G A missense_variant S250L 749C>T SKCM-US 17 74398146 74398146 single base substitution G A missense_variant S34L 101C>T SKCM-US 17 74398146 74398146 single base substitution G A splice_region_variant SKCM-US 17 74398146 74398146 single base substitution G A upstream_gene_variant SKCM-US 17 74401374 74401374 single base substitution G A exon_variant SKCM-US 17 74401374 74401374 single base substitution G A synonymous_variant I167I 501C>T SKCM-US 17 74401374 74401374 single base substitution G A upstream_gene_variant SKCM-US 17 74401639 74401639 single base substitution G A exon_variant SKCM-US 17 74401639 74401639 single base substitution G A missense_variant R145C 433C>T SKCM-US 17 74401639 74401639 single base substitution G A upstream_gene_variant STAD-US 17 74382134 74382134 single base substitution A G downstream_gene_variant STAD-US 17 74382511 74382511 single base substitution C T downstream_gene_variant STAD-US 17 74382513 74382513 single base substitution G A downstream_gene_variant STAD-US 17 74382950 74382950 single base substitution G A downstream_gene_variant STAD-US 17 74383020 74383020 single base substitution G A downstream_gene_variant STAD-US 17 74383476 74383476 single base substitution G A downstream_gene_variant STAD-US 17 74383602 74383602 single base substitution G A downstream_gene_variant STAD-US 17 74387043 74387043 single base substitution T C downstream_gene_variant STAD-US 17 74387043 74387043 single base substitution T C missense_variant E1287G 3860A>G STAD-US 17 74387043 74387043 single base substitution T C missense_variant E801G 2402A>G STAD-US 17 74387141 74387141 single base substitution G A downstream_gene_variant STAD-US 17 74387141 74387141 single base substitution G A synonymous_variant I1254I 3762C>T STAD-US 17 74387141 74387141 single base substitution G A synonymous_variant I768I 2304C>T STAD-US 17 74388089 74388089 insertion of <=200bp - G downstream_gene_variant STAD-US 17 74388089 74388089 insertion of <=200bp - G frameshift_variant H1018P? STAD-US 17 74388089 74388089 insertion of <=200bp - G frameshift_variant H532P? STAD-US 17 74391894 74391894 single base substitution T C downstream_gene_variant STAD-US 17 74391894 74391894 single base substitution T C exon_variant STAD-US 17 74391894 74391894 single base substitution T C missense_variant K467R 1400A>G STAD-US 17 74391894 74391894 single base substitution T C missense_variant K953R 2858A>G STAD-US 17 74392410 74392410 single base substitution T C downstream_gene_variant STAD-US 17 74392410 74392410 single base substitution T C exon_variant STAD-US 17 74392410 74392410 single base substitution T C missense_variant N384D 1150A>G STAD-US 17 74392410 74392410 single base substitution T C missense_variant N870D 2608A>G STAD-US 17 74392545 74392545 single base substitution T G downstream_gene_variant STAD-US 17 74392545 74392545 single base substitution T G exon_variant STAD-US 17 74392545 74392545 single base substitution T G missense_variant K339Q 1015A>C STAD-US 17 74392545 74392545 single base substitution T G missense_variant K825Q 2473A>C STAD-US 17 74392741 74392741 deletion of <=200bp G - downstream_gene_variant STAD-US 17 74392741 74392741 deletion of <=200bp G - exon_variant STAD-US 17 74392741 74392741 deletion of <=200bp G - frameshift_variant P273 STAD-US 17 74392741 74392741 deletion of <=200bp G - frameshift_variant P759 STAD-US 17 74394386 74394386 single base substitution C T downstream_gene_variant STAD-US 17 74394386 74394386 single base substitution C T exon_variant STAD-US 17 74394386 74394386 single base substitution C T missense_variant V172I 514G>A STAD-US 17 74394386 74394386 single base substitution C T missense_variant V659I 1975G>A STAD-US 17 74394418 74394418 single base substitution T C downstream_gene_variant STAD-US 17 74394418 74394418 single base substitution T C exon_variant STAD-US 17 74394418 74394418 single base substitution T C missense_variant H161R 482A>G STAD-US 17 74394418 74394418 single base substitution T C missense_variant H648R 1943A>G STAD-US 17 74394635 74394635 single base substitution C A downstream_gene_variant STAD-US 17 74394635 74394635 single base substitution C A exon_variant STAD-US 17 74394635 74394635 single base substitution C A missense_variant G118V 353G>T STAD-US 17 74394635 74394635 single base substitution C A missense_variant G605V 1814G>T STAD-US 17 74395720 74395720 single base substitution C T downstream_gene_variant STAD-US 17 74395720 74395720 single base substitution C T exon_variant STAD-US 17 74395720 74395720 single base substitution C T missense_variant A480T 1438G>A STAD-US 17 74395720 74395720 single base substitution C T upstream_gene_variant STAD-US 17 74395734 74395734 single base substitution G A downstream_gene_variant STAD-US 17 74395734 74395734 single base substitution G A exon_variant STAD-US 17 74395734 74395734 single base substitution G A missense_variant S475L 1424C>T STAD-US 17 74395734 74395734 single base substitution G A upstream_gene_variant STAD-US 17 74395743 74395743 single base substitution C A downstream_gene_variant STAD-US 17 74395743 74395743 single base substitution C A exon_variant STAD-US 17 74395743 74395743 single base substitution C A missense_variant R472M 1415G>T STAD-US 17 74395743 74395743 single base substitution C A upstream_gene_variant STAD-US 17 74395938 74395938 single base substitution G C downstream_gene_variant STAD-US 17 74395938 74395938 single base substitution G C exon_variant STAD-US 17 74395938 74395938 single base substitution G C missense_variant S166C 497C>G STAD-US 17 74395938 74395938 single base substitution G C missense_variant S407C 1220C>G STAD-US 17 74395938 74395938 single base substitution G C upstream_gene_variant STAD-US 17 74396252 74396252 single base substitution C T downstream_gene_variant STAD-US 17 74396252 74396252 single base substitution C T exon_variant STAD-US 17 74396252 74396252 single base substitution C T intron_variant STAD-US 17 74396252 74396252 single base substitution C T synonymous_variant Q377Q 1131G>A STAD-US 17 74396252 74396252 single base substitution C T upstream_gene_variant STAD-US 17 74396262 74396262 insertion of <=200bp - T downstream_gene_variant STAD-US 17 74396262 74396262 insertion of <=200bp - T exon_variant STAD-US 17 74396262 74396262 insertion of <=200bp - T frameshift_variant N374K? STAD-US 17 74396262 74396262 insertion of <=200bp - T intron_variant STAD-US 17 74396262 74396262 insertion of <=200bp - T upstream_gene_variant STAD-US 17 74396572 74396572 single base substitution C T downstream_gene_variant STAD-US 17 74396572 74396572 single base substitution C T exon_variant STAD-US 17 74396572 74396572 single base substitution C T synonymous_variant T102T 306G>A STAD-US 17 74396572 74396572 single base substitution C T synonymous_variant T318T 954G>A STAD-US 17 74396572 74396572 single base substitution C T upstream_gene_variant STAD-US 17 74401599 74401599 single base substitution G C exon_variant STAD-US 17 74401599 74401599 single base substitution G C missense_variant S158C 473C>G STAD-US 17 74401599 74401599 single base substitution G C upstream_gene_variant THCA-SA 17 74387454 74387454 single base substitution G A downstream_gene_variant THCA-SA 17 74387454 74387454 single base substitution G A missense_variant A1150V 3449C>T THCA-SA 17 74387454 74387454 single base substitution G A missense_variant A664V 1991C>T THCA-US 17 74383472 74383472 single base substitution A G downstream_gene_variant THCA-US 17 74392381 74392381 single base substitution C T downstream_gene_variant THCA-US 17 74392381 74392381 single base substitution C T exon_variant THCA-US 17 74392381 74392381 single base substitution C T missense_variant M393I 1179G>A THCA-US 17 74392381 74392381 single base substitution C T missense_variant M879I 2637G>A UCEC-US 17 74382138 74382138 single base substitution G A downstream_gene_variant UCEC-US 17 74382184 74382184 single base substitution T C downstream_gene_variant UCEC-US 17 74383387 74383387 single base substitution C T downstream_gene_variant UCEC-US 17 74387074 74387074 single base substitution G A downstream_gene_variant UCEC-US 17 74387074 74387074 single base substitution G A missense_variant R1277W 3829C>T UCEC-US 17 74387074 74387074 single base substitution G A missense_variant R791W 2371C>T UCEC-US 17 74387194 74387194 single base substitution G A downstream_gene_variant UCEC-US 17 74387194 74387194 single base substitution G A missense_variant R1237W 3709C>T UCEC-US 17 74387194 74387194 single base substitution G A missense_variant R751W 2251C>T UCEC-US 17 74387294 74387294 single base substitution G A downstream_gene_variant UCEC-US 17 74387294 74387294 single base substitution G A synonymous_variant G1203G 3609C>T UCEC-US 17 74387294 74387294 single base substitution G A synonymous_variant G717G 2151C>T UCEC-US 17 74387399 74387399 single base substitution C T downstream_gene_variant UCEC-US 17 74387399 74387399 single base substitution C T synonymous_variant S1168S 3504G>A UCEC-US 17 74387399 74387399 single base substitution C T synonymous_variant S682S 2046G>A UCEC-US 17 74387400 74387400 single base substitution G A downstream_gene_variant UCEC-US 17 74387400 74387400 single base substitution G A missense_variant S1168L 3503C>T UCEC-US 17 74387400 74387400 single base substitution G A missense_variant S682L 2045C>T UCEC-US 17 74388045 74388045 single base substitution G A downstream_gene_variant UCEC-US 17 74388045 74388045 single base substitution G A synonymous_variant N1032N 3096C>T UCEC-US 17 74388045 74388045 single base substitution G A synonymous_variant N546N 1638C>T UCEC-US 17 74392227 74392227 single base substitution C T downstream_gene_variant UCEC-US 17 74392227 74392227 single base substitution C T exon_variant UCEC-US 17 74392227 74392227 single base substitution C T missense_variant V445I 1333G>A UCEC-US 17 74392227 74392227 single base substitution C T missense_variant V931I 2791G>A UCEC-US 17 74392354 74392354 single base substitution C A downstream_gene_variant UCEC-US 17 74392354 74392354 single base substitution C A exon_variant UCEC-US 17 74392354 74392354 single base substitution C A missense_variant K402N 1206G>T UCEC-US 17 74392354 74392354 single base substitution C A missense_variant K888N 2664G>T UCEC-US 17 74392422 74392422 single base substitution T C downstream_gene_variant UCEC-US 17 74392422 74392422 single base substitution T C exon_variant UCEC-US 17 74392422 74392422 single base substitution T C missense_variant K380E 1138A>G UCEC-US 17 74392422 74392422 single base substitution T C missense_variant K866E 2596A>G UCEC-US 17 74392498 74392498 single base substitution C T downstream_gene_variant UCEC-US 17 74392498 74392498 single base substitution C T exon_variant UCEC-US 17 74392498 74392498 single base substitution C T synonymous_variant P354P 1062G>A UCEC-US 17 74392498 74392498 single base substitution C T synonymous_variant P840P 2520G>A UCEC-US 17 74394341 74394341 single base substitution C T downstream_gene_variant UCEC-US 17 74394341 74394341 single base substitution C T exon_variant UCEC-US 17 74394341 74394341 single base substitution C T missense_variant D187N 559G>A UCEC-US 17 74394341 74394341 single base substitution C T missense_variant D674N 2020G>A UCEC-US 17 74395595 74395595 single base substitution C T downstream_gene_variant UCEC-US 17 74395595 74395595 single base substitution C T exon_variant UCEC-US 17 74395595 74395595 single base substitution C T synonymous_variant K34K 102G>A UCEC-US 17 74395595 74395595 single base substitution C T synonymous_variant K521K 1563G>A UCEC-US 17 74395595 74395595 single base substitution C T upstream_gene_variant UCEC-US 17 74395609 74395609 single base substitution G T downstream_gene_variant UCEC-US 17 74395609 74395609 single base substitution G T exon_variant UCEC-US 17 74395609 74395609 single base substitution G T missense_variant P30T 88C>A UCEC-US 17 74395609 74395609 single base substitution G T missense_variant P517T 1549C>A UCEC-US 17 74395609 74395609 single base substitution G T upstream_gene_variant UCEC-US 17 74395862 74395862 single base substitution A G downstream_gene_variant UCEC-US 17 74395862 74395862 single base substitution A G exon_variant UCEC-US 17 74395862 74395862 single base substitution A G synonymous_variant P432P 1296T>C UCEC-US 17 74395862 74395862 single base substitution A G upstream_gene_variant UCEC-US 17 74395996 74395996 single base substitution G A downstream_gene_variant UCEC-US 17 74395996 74395996 single base substitution G A exon_variant UCEC-US 17 74395996 74395996 single base substitution G A missense_variant R147C 439C>T UCEC-US 17 74395996 74395996 single base substitution G A missense_variant R388C 1162C>T UCEC-US 17 74395996 74395996 single base substitution G A upstream_gene_variant UCEC-US 17 74396258 74396258 single base substitution G A downstream_gene_variant UCEC-US 17 74396258 74396258 single base substitution G A exon_variant UCEC-US 17 74396258 74396258 single base substitution G A intron_variant UCEC-US 17 74396258 74396258 single base substitution G A synonymous_variant C375C 1125C>T UCEC-US 17 74396258 74396258 single base substitution G A upstream_gene_variant UCEC-US 17 74396366 74396366 single base substitution G A downstream_gene_variant UCEC-US 17 74396366 74396366 single base substitution G A exon_variant UCEC-US 17 74396366 74396366 single base substitution G A synonymous_variant L123L 369C>T UCEC-US 17 74396366 74396366 single base substitution G A synonymous_variant L339L 1017C>T UCEC-US 17 74396366 74396366 single base substitution G A upstream_gene_variant UCEC-US 17 74397108 74397108 single base substitution C T downstream_gene_variant UCEC-US 17 74397108 74397108 single base substitution C T exon_variant UCEC-US 17 74397108 74397108 single base substitution C T missense_variant R293Q 878G>A UCEC-US 17 74397108 74397108 single base substitution C T missense_variant R77Q 230G>A UCEC-US 17 74397108 74397108 single base substitution C T upstream_gene_variant UCEC-US 17 74398172 74398172 single base substitution G A exon_variant UCEC-US 17 74398172 74398172 single base substitution G A synonymous_variant Y241Y 723C>T UCEC-US 17 74398172 74398172 single base substitution G A synonymous_variant Y25Y 75C>T UCEC-US 17 74398172 74398172 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A11E-01 COSM984705 c.1162C>T p.R388C Substitution - Missense 17:76399915-76399915 - J88_T COSM3958779 c.1206A>T p.P402P Substitution - coding silent 17:76399871-76399871 - ESCC_127 COSM5641486 c.2422C>G p.P808A Substitution - Missense 17:76396515-76396515 - Pat_06_A COSM5853575 c.1490C>T p.S497F Substitution - Missense 17:76399587-76399587 - KPOPBR-20-T COSM5963372 c.1668C>G p.D556E Substitution - Missense 17:76398952-76398952 - PD13424a COSM5783533 c.3381C>G p.I1127M Substitution - Missense 17:76391441-76391441 - TCGA-EE-A29D-06 COSM3522548 c.3131T>A p.L1044Q Substitution - Missense 17:76391929-76391929 - CHC1569T COSM4791315 c.249C>G p.H83Q Substitution - Missense 17:76452893-76452893 - D-12 COSM4766829 c.3369T>G p.F1123L Substitution - Missense 17:76391453-76391453 - YUKLAB COSM1710831 c.2273C>T p.P758L Substitution - Missense 17:76396664-76396664 - 345973 COSM3726700 c.1281G>A p.A427A Substitution - coding silent 17:76399796-76399796 - HCC2218 COSM23453 c.1372G>A p.E458K Substitution - Missense 17:76399705-76399705 - D-12 COSM4766830 c.3369T>G p.F1123L Substitution - Missense 17:76391453-76391453 - KPOPBR-17-T COSM5964682 c.2656G>C p.E886Q Substitution - Missense 17:76396281-76396281 - TCGA-AA-3492-01 COSM1386197 c.3241G>A p.E1081K Substitution - Missense 17:76391581-76391581 - CSCC-20-T COSM4489862 c.3540C>A p.S1180S Substitution - coding silent 17:76391282-76391282 - pfg212T COSM4757526 c.1223G>A p.R408Q Substitution - Missense 17:76399854-76399854 - ICC006T COSM5807357 c.2030C>A p.S677* Substitution - Nonsense 17:76397884-76397884 - TCGA-BR-6452-01 COSM4069887 c.1943A>G p.H648R Substitution - Missense 17:76398337-76398337 - 19M COSM5579923 c.2629G>A p.E877K Substitution - Missense 17:76396308-76396308 - S0029 COSM5882920 c.2192C>T p.S731L Substitution - Missense 17:76396745-76396745 - PD11352a COSM5794842 c.3546A>G p.Q1182Q Substitution - coding silent 17:76391276-76391276 - TCGA-CG-5721-01 COSM4069882 c.2473A>C p.K825Q Substitution - Missense 17:76396464-76396464 - TCGA-F5-6814-01 COSM195600 c.2819C>A p.S940Y Substitution - Missense 17:76395852-76395852 - TCGA-HU-A4GH-01 COSM4069879 c.2858A>G p.K953R Substitution - Missense 17:76395813-76395813 - TCGA-18-3409-01 COSM707141 c.3318C>T p.I1106I Substitution - coding silent 17:76391504-76391504 - HCT15 COSM2743396 c.1689C>T p.S563S Substitution - coding silent 17:76398931-76398931 - TCGA-61-1907-01 COSM1324835 c.2899A>G p.T967A Substitution - Missense 17:76395772-76395772 - SC_9100 COSM5554493 c.3541G>A p.G1181S Substitution - Missense 17:76391281-76391281 - TCGA-34-5927-01 COSM707143 c.3818T>A p.L1273Q Substitution - Missense 17:76391004-76391004 - GB02 COSM1744682 c.3236A>G p.Y1079C Substitution - Missense 17:76391586-76391586 - 19M COSM5579925 c.2355C>T p.V785V Substitution - coding silent 17:76396582-76396582 - TCGA-BR-6452-01 COSM4069890 c.1438G>A p.A480T Substitution - Missense 17:76399639-76399639 - 19M COSM5579922 c.2629G>A p.E877K Substitution - Missense 17:76396308-76396308 - TCGA-BR-6452-01 COSM4069891 c.1438G>A p.A480T Substitution - Missense 17:76399639-76399639 - NCI-H1437 COSM23458 c.1706G>T p.R569L Substitution - Missense 17:76398914-76398914 - TCGA-CM-6677-01 COSM1386205 c.2352C>T p.A784A Substitution - coding silent 17:76396585-76396585 - 2492720 COSM5722699 c.2242G>A p.V748M Substitution - Missense 17:76396695-76396695 - HCC2218 COSM23453 c.1372G>A p.E458K Substitution - Missense 17:76399705-76399705 - SC_9058 COSM5573751 c.3337_3338ins12 p.T1113>SAVHA Complex - insertion inframe 17:76391484-76391485 - T3610 COSM4738702 c.2157C>T p.Y719Y Substitution - coding silent 17:76396780-76396780 - PD4266a COSM5795860 c.858C>T p.L286L Substitution - coding silent 17:76401047-76401047 - TCGA-AP-A051-01 COSM984668 c.3609C>T p.G1203G Substitution - coding silent 17:76391213-76391213 - ACINAR03 COSM1735294 c.2554_2556delAAG p.K852delK Deletion - In frame 17:76396381-76396383 - ZZUFHECRKL-G038T COSM5442471 c.2782G>A p.V928I Substitution - Missense 17:76396155-76396155 - TCGA-HU-A4GH-01 COSM4069878 c.2858A>G p.K953R Substitution - Missense 17:76395813-76395813 - GC8_T COSM148348 c.3619G>A p.G1207S Substitution - Missense 17:76391203-76391203 - CSCC-60-T COSM4452016 c.1539A>T p.K513N Substitution - Missense 17:76399538-76399538 - TCGA-B5-A0JY-01 COSM984687 c.2596A>G p.K866E Substitution - Missense 17:76396341-76396341 - TCGA-56-6546-01 COSM707132 c.317G>T p.G106V Substitution - Missense 17:76452825-76452825 - CSCC-20-T COSM4489863 c.3540C>A p.S1180S Substitution - coding silent 17:76391282-76391282 - TCGA-BR-8360-01 COSM4069888 c.1814G>T p.G605V Substitution - Missense 17:76398554-76398554 - CSCC-31-T COSM4565941 c.2759_2760CC>TT p.T920I Substitution - Missense 17:76396177-76396178 - KM12 COSM1680106 c.1705C>T p.R569C Substitution - Missense 17:76398915-76398915 - LIM2551 COSM4644110 c.1918G>A p.V640M Substitution - Missense 17:76398362-76398362 - TCGA-GV-A3JZ-01 COSM1303380 c.1084G>A p.E362K Substitution - Missense 17:76400218-76400218 - HCC003T COSM5819643 c.1003A>T p.R335W Substitution - Missense 17:76400442-76400442 - TCGA-EE-A20C-06 COSM3522553 c.2853C>T p.A951A Substitution - coding silent 17:76395818-76395818 - T3118 COSM4738695 c.3043G>A p.V1015M Substitution - Missense 17:76392017-76392017 - Pat_32_B COSM5853573 c.1729C>T p.H577Y Substitution - Missense 17:76398891-76398891 - TCGA-EJ-7331-01 COSM1470949 c.966C>T p.S322S Substitution - coding silent 17:76400479-76400479 - TCGA-AM-5821-01 COSM3691840 c.2181C>T p.S727S Substitution - coding silent 17:76396756-76396756 - LUAD-F00257 COSM340103 c.3057C>T p.F1019F Substitution - coding silent 17:76392003-76392003 - 2492722 COSM5722698 c.2242G>A p.V748M Substitution - Missense 17:76396695-76396695 - TCGA-BR-8372-01 COSM4069876 c.3762C>T p.I1254I Substitution - coding silent 17:76391060-76391060 - PTC-7C COSM4130664 c.1074A>C p.P358P Substitution - coding silent 17:76400228-76400228 - PT43 COSM5926228 c.1289C>T p.A430V Substitution - Missense 17:76399788-76399788 - TCGA-D9-A6EC-06 COSM4402039 c.433C>T p.R145C Substitution - Missense 17:76405557-76405557 - 2492721 COSM5722698 c.2242G>A p.V748M Substitution - Missense 17:76396695-76396695 - 406 COSM4430184 c.2769C>T p.S923S Substitution - coding silent 17:76396168-76396168 - Pat_32_A COSM5853572 c.1729C>T p.H577Y Substitution - Missense 17:76398891-76398891 - PTC-7C COSM4130667 c.534C>A p.I178I Substitution - coding silent 17:76405260-76405260 - SWE-11 COSM1178814 c.2102T>G p.I701S Substitution - Missense 17:76397812-76397812 - OSCC-GB_01040111 COSM4885976 c.211C>T p.R71C Substitution - Missense 17:76452931-76452931 - J88_T COSM3958778 c.1206A>T p.P402P Substitution - coding silent 17:76399871-76399871 - 262LT COSM4130659 c.3619G>A p.G1207S Substitution - Missense 17:76391203-76391203 - PCSI_0137_Pa_X COSM3378329 c.2983A>G p.T995A Substitution - Missense 17:76392077-76392077 - PR-2832 COSM219999 c.2807C>G p.P936R Substitution - Missense 17:76396130-76396130 - LS513 COSM2743365 c.2168A>C p.E723A Substitution - Missense 17:76396769-76396769 - ESO-874 COSM1269630 c.3838C>T p.L1280L Substitution - coding silent 17:76390984-76390984 - CH-50-T2 COSM5650840 c.3263G>A p.R1088Q Substitution - Missense 17:76391559-76391559 - TCGA-AP-A0LM-01 COSM984681 c.2791G>A p.V931I Substitution - Missense 17:76396146-76396146 - OSCC-GB_00930111 COSM4888231 c.1155+1G>T p.? Unknown 17:76400146-76400146 - TCGA-B5-A11E-01 COSM984666 c.3709C>T p.R1237W Substitution - Missense 17:76391113-76391113 - CSCC-57-T COSM4565575 c.2256_2257CC>TT p.P753S Substitution - Missense 17:76396680-76396681 - KPOPBR-20-T COSM5963371 c.1668C>G p.D556E Substitution - Missense 17:76398952-76398952 - TCGA-G9-6338-01 COSM3672581 c.2389G>T p.G797W Substitution - Missense 17:76396548-76396548 - TCGA-G2-A2EF-01 COSM1303379 c.3033C>T p.I1011I Substitution - coding silent 17:76392027-76392027 - TCGA-CA-6718-01 COSM1386213 c.1399G>T p.E467* Substitution - Nonsense 17:76399678-76399678 - PR-2832 COSM220000 c.2807C>G p.P936R Substitution - Missense 17:76396130-76396130 - TCGA-BP-5183-01 COSM473408 c.2460C>A p.I820I Substitution - coding silent 17:76396477-76396477 - S00472 COSM5657747 c.2948A>G p.D983G Substitution - Missense 17:76392112-76392112 - 262LT COSM148348 c.3619G>A p.G1207S Substitution - Missense 17:76391203-76391203 - RKO COSM4614814 c.3052_3053insC p.H1018fs*18 Insertion - Frameshift 17:76392007-76392008 - Pat_02_B COSM5853566 c.3320G>A p.R1107H Substitution - Missense 17:76391502-76391502 - TCGA-A8-A079-01 COSM437438 c.3821C>T p.T1274M Substitution - Missense 17:76391001-76391001 - 2159 COSM5013239 c.3757G>T p.D1253Y Substitution - Missense 17:76391065-76391065 - ESCC_BICR_042T COSM5443702 c.2677G>A p.E893K Substitution - Missense 17:76396260-76396260 - TCGA-30-1714-01 COSM1324833 c.1943A>C p.H648P Substitution - Missense 17:76398337-76398337 - TCGA-AU-6004-01 COSM1386203 c.3052delC p.H1018fs*12 Deletion - Frameshift 17:76392008-76392008 - S02242 COSM5677198 c.2193G>T p.S731S Substitution - coding silent 17:76396744-76396744 - LUAD-NYU1051S COSM368667 c.2258C>G p.P753R Substitution - Missense 17:76396679-76396679 - 408 COSM4430432 c.954G>T p.T318T Substitution - coding silent 17:76400491-76400491 - LUAD-S01405 COSM398973 c.723C>T p.Y241Y Substitution - coding silent 17:76402091-76402091 - LUAD-F00257 COSM340104 c.3057C>T p.F1019F Substitution - coding silent 17:76392003-76392003 - TCGA-EB-A41A-01 COSM3522564 c.928A>G p.T310A Substitution - Missense 17:76400517-76400517 - TCGA-D1-A103-01 COSM398973 c.723C>T p.Y241Y Substitution - coding silent 17:76402091-76402091 - ACINAR03 COSM1735296 c.578A>G p.Q193R Substitution - Missense 17:76405216-76405216 - TCGA-BG-A0VX-01 COSM984674 c.3503C>T p.S1168L Substitution - Missense 17:76391319-76391319 - TCGA-EE-A2MR-06 COSM3522557 c.2560C>T p.L854L Substitution - coding silent 17:76396377-76396377 - PTC-7C COSM148348 c.3619G>A p.G1207S Substitution - Missense 17:76391203-76391203 - sysucc-1370T COSM2743402 c.1653G>A p.T551T Substitution - coding silent 17:76398967-76398967 - CHC1569T COSM5347712 c.251_253delGCG p.G84delG Deletion - In frame 17:76452889-76452891 - TCGA-AP-A056-01 COSM984689 c.2520G>A p.P840P Substitution - coding silent 17:76396417-76396417 - 587336 COSM1231551 c.2674C>T p.P892S Substitution - Missense 17:76396263-76396263 - 587228 COSM1231547 c.2650G>A p.D884N Substitution - Missense 17:76396287-76396287 - Pat_63_A COSM2743326 c.3311C>T p.A1104V Substitution - Missense 17:76391511-76391511 - TCGA-BR-4362-01 COSM4069897 c.1220C>G p.S407C Substitution - Missense 17:76399857-76399857 - Pat_06_A COSM5853574 c.1490C>T p.S497F Substitution - Missense 17:76399587-76399587 - T3610 COSM4738701 c.2157C>T p.Y719Y Substitution - coding silent 17:76396780-76396780 - SNUH_G73_S1 COSM148350 c.1767C>T p.F589F Substitution - coding silent 17:76398853-76398853 - DLD1 COSM2743396 c.1689C>T p.S563S Substitution - coding silent 17:76398931-76398931 - TCGA-EE-A2GR-06 COSM3522544 c.3544C>T p.Q1182* Substitution - Nonsense 17:76391278-76391278 - TCGA-G9-6338-01 COSM3672582 c.2389G>T p.G797W Substitution - Missense 17:76396548-76396548 - HCA7 COSM1386202 c.3052delC p.H1018fs*12 Deletion - Frameshift 17:76392008-76392008 - TCGA-D9-A6EC-06 COSM4405263 c.852C>T p.P284P Substitution - coding silent 17:76401053-76401053 - AOCS-122-1-4 COSM4139844 c.2139G>T p.E713D Substitution - Missense 17:76396798-76396798 - pfg123T COSM4757523 c.2738G>A p.C913Y Substitution - Missense 17:76396199-76396199 - BD72T COSM5513364 c.3685C>A p.P1229T Substitution - Missense 17:76391137-76391137 - pfg016T COSM1640813 c.2703_2704insAA p.W902fs*129 Insertion - Frameshift 17:76396233-76396234 - PTC_441 COSM5957542 c.3449C>T p.A1150V Substitution - Missense 17:76391373-76391373 - 587228 COSM1231550 c.505G>A p.V169I Substitution - Missense 17:76405289-76405289 - TCGA-BP-5183-01 COSM473407 c.2460C>A p.I820I Substitution - coding silent 17:76396477-76396477 - 2492717 COSM5719106 c.3361G>T p.E1121* Substitution - Nonsense 17:76391461-76391461 - CSCC-16-T COSM4516257 c.1737_1738GG>AC p.D580H Substitution - Missense 17:76398882-76398883 - TCGA-B5-A11E-01 COSM984704 c.1162C>T p.R388C Substitution - Missense 17:76399915-76399915 - TCGA-JW-A5VL-01 COSM4846577 c.2236G>A p.G746R Substitution - Missense 17:76396701-76396701 - TCGA-AP-A0LM-01 COSM984671 c.3504G>A p.S1168S Substitution - coding silent 17:76391318-76391318 - TCGA-EE-A3AH-06 COSM3522555 c.2789C>T p.S930F Substitution - Missense 17:76396148-76396148 - CSCC-29-T COSM4453362 c.2811A>C p.S937S Substitution - coding silent 17:76395860-76395860 - CSCC-55-T COSM4564492 c.1221_1222CC>TT p.R408W Substitution - Missense 17:76399855-76399856 - TCGA-BH-A18G-01 COSM3820636 c.955G>A p.D319N Substitution - Missense 17:76400490-76400490 - ATL074 COSM5706551 c.707A>T p.D236V Substitution - Missense 17:76402107-76402107 - CCK81 COSM2743328 c.3240C>T p.N1080N Substitution - coding silent 17:76391582-76391582 - GC8_T COSM148349 c.1767C>T p.F589F Substitution - coding silent 17:76398853-76398853 - TCGA-HU-A4H3-01 COSM4069894 c.1415G>T p.R472M Substitution - Missense 17:76399662-76399662 - 46M COSM5589288 c.2113C>T p.Q705* Substitution - Nonsense 17:76397801-76397801 - TCGA-EE-A2GR-06 COSM3522545 c.3544C>T p.Q1182* Substitution - Nonsense 17:76391278-76391278 - HCC130T COSM1610814 c.1629-10delG p.? Unknown 17:76399001-76399001 - TCGA-BR-6453-01 COSM4069898 c.954G>A p.T318T Substitution - coding silent 17:76400491-76400491 - CSCC-29-T COSM4453361 c.2811A>C p.S937S Substitution - coding silent 17:76395860-76395860 - 347 COSM3724064 c.762C>T p.F254F Substitution - coding silent 17:76401143-76401143 - MZ7-mel COSM23459 c.3161G>A p.R1054K Substitution - Missense 17:76391803-76391803 - 8012211 COSM3388156 c.3572C>T p.A1191V Substitution - Missense 17:76391250-76391250 - RMS1_ COSM4985637 c.2770G>A p.A924T Substitution - Missense 17:76396167-76396167 - T3182 COSM4738693 c.3808C>T p.R1270W Substitution - Missense 17:76391014-76391014 - ESO-117 COSM1269629 c.961G>A p.V321I Substitution - Missense 17:76400484-76400484 - TCGA-D9-A6EC-06 COSM4405262 c.852C>T p.P284P Substitution - coding silent 17:76401053-76401053 - CHOL49 COSM1744679 c.745G>T p.D249Y Substitution - Missense 17:76402069-76402069 - ESCC-D7 COSM5046435 c.2888C>T p.A963V Substitution - Missense 17:76395783-76395783 - 2492719 COSM5719107 c.3361G>T p.E1121* Substitution - Nonsense 17:76391461-76391461 - T3724 COSM4738705 c.2025+2T>C p.? Unknown 17:76398253-76398253 - Pat_59_B COSM5853563 c.3857C>T p.P1286L Substitution - Missense 17:76390965-76390965 - LS513 COSM2743366 c.2168A>C p.E723A Substitution - Missense 17:76396769-76396769 - PTC-7C COSM4130660 c.1929C>T p.Y643Y Substitution - coding silent 17:76398351-76398351 - TCGA-J9-A52C-01 COSM4877155 c.2712C>T p.S904S Substitution - coding silent 17:76396225-76396225 - ESCC-248T COSM3937581 c.2736G>C p.Q912H Substitution - Missense 17:76396201-76396201 - YUKLAB COSM1710830 c.2273C>T p.P758L Substitution - Missense 17:76396664-76396664 - 48 COSM1269629 c.961G>A p.V321I Substitution - Missense 17:76400484-76400484 - PT32 COSM5907707 c.2255A>T p.H752L Substitution - Missense 17:76396682-76396682 - SNUH_G73_S1 COSM148349 c.1767C>T p.F589F Substitution - coding silent 17:76398853-76398853 - SWE-52 COSM1180310 c.2546G>T p.R849L Substitution - Missense 17:76396391-76396391 - BD124T COSM5493645 c.1629-5C>T p.? Unknown 17:76398996-76398996 - TCGA-AM-5821-01 COSM3691839 c.2181C>T p.S727S Substitution - coding silent 17:76396756-76396756 - CHC1569T COSM4791315 c.249C>G p.H83Q Substitution - Missense 17:76452893-76452893 - Au4 COSM5605257 c.1329G>A p.V443V Substitution - coding silent 17:76399748-76399748 - ATL074 COSM5706550 c.707A>T p.D236V Substitution - Missense 17:76402107-76402107 - HCT15 COSM2743395 c.1689C>T p.S563S Substitution - coding silent 17:76398931-76398931 - ESCC-139T COSM3937583 c.1706G>A p.R569H Substitution - Missense 17:76398914-76398914 - TCGA-FS-A1ZP-06 COSM3522566 c.749C>T p.S250L Substitution - Missense 17:76402065-76402065 - T1240 COSM1386211 c.1464G>A p.T488T Substitution - coding silent 17:76399613-76399613 - TCGA-D3-A3C3-06 COSM3522543 c.3553C>T p.P1185S Substitution - Missense 17:76391269-76391269 - TCGA-BS-A0UV-01 COSM984710 c.1017C>T p.L339L Substitution - coding silent 17:76400285-76400285 - ATL020 COSM5706553 c.694A>G p.M232V Substitution - Missense 17:76402120-76402120 - TCGA-DK-A1A3-01 COSM417977 c.3621C>T p.G1207G Substitution - coding silent 17:76391201-76391201 - DLD1 COSM4623673 c.296C>A p.S99* Substitution - Nonsense 17:76452846-76452846 - TCGA-AP-A059-01 COSM984693 c.2020G>A p.D674N Substitution - Missense 17:76398260-76398260 - 587228 COSM1231549 c.505G>A p.V169I Substitution - Missense 17:76405289-76405289 - S0029 COSM5882921 c.2192C>T p.S731L Substitution - Missense 17:76396745-76396745 - 61 COSM5741151 c.1463C>T p.T488M Substitution - Missense 17:76399614-76399614 - TCGA-IH-A3EA-01 COSM3522561 c.1295C>T p.P432L Substitution - Missense 17:76399782-76399782 - TCGA-AP-A0LM-01 COSM984680 c.2791G>A p.V931I Substitution - Missense 17:76396146-76396146 - 44 COSM5734195 c.2513_2535del23 p.T838fs*11 Deletion - Frameshift 17:76396402-76396424 - TCGA-D1-A167-01 COSM984683 c.2664G>T p.K888N Substitution - Missense 17:76396273-76396273 - Au4 COSM5605255 c.3283G>A p.E1095K Substitution - Missense 17:76391539-76391539 - 66 COSM5743870 c.734C>T p.P245L Substitution - Missense 17:76402080-76402080 - TCGA-G2-A2EO-01 COSM1303376 c.3252C>T p.F1084F Substitution - coding silent 17:76391570-76391570 - TCGA-G2-A2EO-01 COSM1303377 c.3252C>T p.F1084F Substitution - coding silent 17:76391570-76391570 - TCGA-B5-A11Y-01 COSM984698 c.1549C>A p.P517T Substitution - Missense 17:76399528-76399528 - BD72T COSM5513363 c.3685C>A p.P1229T Substitution - Missense 17:76391137-76391137 - PT50 COSM5937750 c.1826C>T p.S609F Substitution - Missense 17:76398542-76398542 - TCGA-BR-6453-01 COSM4069899 c.954G>A p.T318T Substitution - coding silent 17:76400491-76400491 - TCGA-Q1-A73R-01 COSM4856064 c.1937C>A p.A646D Substitution - Missense 17:76398343-76398343 - T3118 COSM4738699 c.2328C>T p.I776I Substitution - coding silent 17:76396609-76396609 - TCGA-56-6546-01 COSM707131 c.317G>T p.G106V Substitution - Missense 17:76452825-76452825 - T3091 COSM4614814 c.3052_3053insC p.H1018fs*18 Insertion - Frameshift 17:76392007-76392008 - OSCC-GB_01110111 COSM4884583 c.231G>T p.G77G Substitution - coding silent 17:76452911-76452911 - TCGA-F4-6856-01 COSM1386217 c.495G>A p.T165T Substitution - coding silent 17:76405299-76405299 - CHOL12 COSM1744678 c.2913G>T p.E971D Substitution - Missense 17:76395758-76395758 - TCGA-DJ-A2PU-01 COSM3370923 c.2637G>A p.M879I Substitution - Missense 17:76396300-76396300 - PCSI_0137_Pa_X COSM3378328 c.2983A>G p.T995A Substitution - Missense 17:76392077-76392077 - T3724 COSM4738706 c.2025+2T>C p.? Unknown 17:76398253-76398253 - PD11462a COSM5801684 c.1174_1176delAAG p.K392delK Deletion - In frame 17:76399901-76399903 - TCGA-G2-A2EF-01 COSM1303378 c.3033C>T p.I1011I Substitution - coding silent 17:76392027-76392027 - ATL020 COSM5706552 c.694A>G p.M232V Substitution - Missense 17:76402120-76402120 - PTC-7C COSM4130665 c.1074A>C p.P358P Substitution - coding silent 17:76400228-76400228 - YUOTHO COSM5387389 c.2845C>T p.P949S Substitution - Missense 17:76395826-76395826 - Pat_41_B COSM5853569 c.2056G>A p.V686I Substitution - Missense 17:76397858-76397858 - 2492715 COSM5719106 c.3361G>T p.E1121* Substitution - Nonsense 17:76391461-76391461 - ICC006T COSM5807358 c.2030C>A p.S677* Substitution - Nonsense 17:76397884-76397884 - HCA7 COSM4630345 c.2660G>A p.R887H Substitution - Missense 17:76396277-76396277 - 2159 COSM5013240 c.3757G>T p.D1253Y Substitution - Missense 17:76391065-76391065 - pfg016T COSM1640812 c.2703_2704insAA p.W902fs*129 Insertion - Frameshift 17:76396233-76396234 - ICGC_MB16 COSM215716 c.1163G>A p.R388H Substitution - Missense 17:76399914-76399914 - TCGA-J9-A52C-01 COSM4877156 c.2712C>T p.S904S Substitution - coding silent 17:76396225-76396225 - TCGA-BG-A0VX-01 COSM984675 c.3503C>T p.S1168L Substitution - Missense 17:76391319-76391319 - OSCC-GB_00930111 COSM4888232 c.1155+1G>T p.? Unknown 17:76400146-76400146 - LUAD-NYU1051S COSM368666 c.2258C>G p.P753R Substitution - Missense 17:76396679-76396679 - TCGA-EE-A29D-06 COSM3522549 c.3131T>A p.L1044Q Substitution - Missense 17:76391929-76391929 - 2492721 COSM5722699 c.2242G>A p.V748M Substitution - Missense 17:76396695-76396695 - PT25 COSM5905071 c.3832G>T p.A1278S Substitution - Missense 17:76390990-76390990 - TCGA-JW-A852-01 COSM2743384 c.1813G>A p.G605S Substitution - Missense 17:76398555-76398555 - TCGA-BS-A0UV-01 COSM984696 c.1563G>A p.K521K Substitution - coding silent 17:76399514-76399514 - TCGA-AO-A1KS-01 COSM1480039 c.549C>T p.I183I Substitution - coding silent 17:76405245-76405245 - TCGA-FW-A3R5-06 COSM3890492 c.501C>T p.I167I Substitution - coding silent 17:76405293-76405293 - TCGA-BH-A18G-01 COSM3820635 c.955G>A p.D319N Substitution - Missense 17:76400490-76400490 - LNCaP COSM238610 c.3772C>T p.L1258F Substitution - Missense 17:76391050-76391050 - CSCC-15-T COSM4544773 c.3639G>A p.R1213R Substitution - coding silent 17:76391183-76391183 - T578 COSM4738697 c.2615C>T p.A872V Substitution - Missense 17:76396322-76396322 - PT25 COSM5905072 c.3832G>T p.A1278S Substitution - Missense 17:76390990-76390990 - RKO COSM4614813 c.3052_3053insC p.H1018fs*18 Insertion - Frameshift 17:76392007-76392008 - TCGA-CA-6717-01 COSM1386209 c.1573C>T p.R525C Substitution - Missense 17:76399504-76399504 - TCGA-HU-A4H3-01 COSM2743438 c.1131G>A p.Q377Q Substitution - coding silent 17:76400171-76400171 - ESCC_9 COSM5623617 c.2336A>T p.E779V Substitution - Missense 17:76396601-76396601 - Pat_37_B COSM5853564 c.3409C>T p.R1137W Substitution - Missense 17:76391413-76391413 - HRA19 COSM4637769 c.448C>T p.R150* Substitution - Nonsense 17:76405542-76405542 - HCT15 COSM2743457 c.825C>T p.S275S Substitution - coding silent 17:76401080-76401080 - 2492718 COSM5719106 c.3361G>T p.E1121* Substitution - Nonsense 17:76391461-76391461 - ESO-117 COSM1269628 c.961G>A p.V321I Substitution - Missense 17:76400484-76400484 - TCGA-D3-A3C3-06 COSM3522542 c.3553C>T p.P1185S Substitution - Missense 17:76391269-76391269 - PTC-7C COSM4130666 c.534C>A p.I178I Substitution - coding silent 17:76405260-76405260 - PD13765a COSM5770691 c.3822G>A p.T1274T Substitution - coding silent 17:76391000-76391000 - CHC1704T COSM4804186 c.3840G>T p.L1280L Substitution - coding silent 17:76390982-76390982 - KPOPBR-17-T COSM5964681 c.2656G>C p.E886Q Substitution - Missense 17:76396281-76396281 - sysucc-1370T COSM2743401 c.1653G>A p.T551T Substitution - coding silent 17:76398967-76398967 - S02242 COSM5677197 c.2193G>T p.S731S Substitution - coding silent 17:76396744-76396744 - CHC1704T COSM4804185 c.3840G>T p.L1280L Substitution - coding silent 17:76390982-76390982 - TCGA-EI-6507-01 COSM1563635 c.2778C>T p.G926G Substitution - coding silent 17:76396159-76396159 - CHC1704T COSM4804186 c.3840G>T p.L1280L Substitution - coding silent 17:76390982-76390982 - T3118 COSM4738696 c.3043G>A p.V1015M Substitution - Missense 17:76392017-76392017 - TCGA-F4-6856-01 COSM1386218 c.495G>A p.T165T Substitution - coding silent 17:76405299-76405299 - TCGA-22-1002-01 COSM707134 c.1872G>T p.L624L Substitution - coding silent 17:76398496-76398496 - 1_PRE-TREATMENT COSM1720892 c.2277delC p.I760fs*16 Deletion - Frameshift 17:76396660-76396660 - YUROG COSM5387388 c.3754C>A p.P1252T Substitution - Missense 17:76391068-76391068 - CHC789T COSM4953295 c.3050C>T p.P1017L Substitution - Missense 17:76392010-76392010 - SC_9058 COSM5573750 c.3337_3338ins12 p.T1113>SAVHA Complex - insertion inframe 17:76391484-76391485 - LUAD-NYU1051S COSM368669 c.1453G>T p.A485S Substitution - Missense 17:76399624-76399624 - BN06T COSM1610813 c.3316delA p.I1106fs*7 Deletion - Frameshift 17:76391506-76391506 - YUBOO COSM1710832 c.1468G>A p.D490N Substitution - Missense 17:76399609-76399609 - TCGA-HU-A4H3-01 COSM2743439 c.1131G>A p.Q377Q Substitution - coding silent 17:76400171-76400171 - PD13424a COSM5783534 c.3381C>G p.I1127M Substitution - Missense 17:76391441-76391441 - LIM2551 COSM4644109 c.1918G>A p.V640M Substitution - Missense 17:76398362-76398362 - TCGA-AU-6004-01 COSM1386202 c.3052delC p.H1018fs*12 Deletion - Frameshift 17:76392008-76392008 - TCGA-HU-A4H8-01 COSM4069881 c.2608A>G p.N870D Substitution - Missense 17:76396329-76396329 - T1240 COSM1386212 c.1464G>A p.T488T Substitution - coding silent 17:76399613-76399613 - SNU-175 COSM2743383 c.1813G>A p.G605S Substitution - Missense 17:76398555-76398555 - LC_S13 COSM1189580 c.20C>A p.P7H Substitution - Missense 17:76453122-76453122 - TCGA-AP-A0LM-01 COSM984672 c.3504G>A p.S1168S Substitution - coding silent 17:76391318-76391318 - 66 COSM5743869 c.734C>T p.P245L Substitution - Missense 17:76402080-76402080 - TCGA-B5-A11E-01 COSM984714 c.878G>A p.R293Q Substitution - Missense 17:76401027-76401027 - TCGA-EE-A20C-06 COSM3522552 c.2853C>T p.A951A Substitution - coding silent 17:76395818-76395818 - TCGA-CM-6677-01 COSM1386204 c.2352C>T p.A784A Substitution - coding silent 17:76396585-76396585 - CHC1545T COSM4787564 c.3555T>A p.P1185P Substitution - coding silent 17:76391267-76391267 - CHC1545T COSM4787564 c.3555T>A p.P1185P Substitution - coding silent 17:76391267-76391267 - CHOL49 COSM1744680 c.745G>T p.D249Y Substitution - Missense 17:76402069-76402069 - sysucc-1370T COSM5470765 c.2991C>T p.Y997Y Substitution - coding silent 17:76392069-76392069 - KM12 COSM1680105 c.1705C>T p.R569C Substitution - Missense 17:76398915-76398915 - Au4 COSM5605256 c.1329G>A p.V443V Substitution - coding silent 17:76399748-76399748 - TCGA-30-1714-01 COSM1324832 c.1943A>C p.H648P Substitution - Missense 17:76398337-76398337 - CHC1569T COSM4791316 c.249C>G p.H83Q Substitution - Missense 17:76452893-76452893 - TCGA-22-1002-01 COSM707133 c.1872G>T p.L624L Substitution - coding silent 17:76398496-76398496 - 408 COSM4430431 c.954G>T p.T318T Substitution - coding silent 17:76400491-76400491 - OSCC-GB_01040111 COSM4885977 c.211C>T p.R71C Substitution - Missense 17:76452931-76452931 - CRC-02T COSM5454612 c.3424A>G p.I1142V Substitution - Missense 17:76391398-76391398 - LUAD-NYU1051S COSM368668 c.1453G>T p.A485S Substitution - Missense 17:76399624-76399624 - TCGA-AX-A060-01 COSM984662 c.3829C>T p.R1277W Substitution - Missense 17:76390993-76390993 - TCGA-LP-A5U2-01 COSM4833736 c.2962C>G p.L988V Substitution - Missense 17:76392098-76392098 - Pat_24_A COSM5853571 c.1744_1746delAAC p.N582delN Deletion - In frame 17:76398874-76398876 - GB02 COSM1744681 c.3236A>G p.Y1079C Substitution - Missense 17:76391586-76391586 - PTC-53C COSM4130662 c.1488C>A p.S496S Substitution - coding silent 17:76399589-76399589 - TCGA-BR-8372-01 COSM4069877 c.3762C>T p.I1254I Substitution - coding silent 17:76391060-76391060 - T55 COSM4738703 c.2113delC p.Q705fs*6 Deletion - Frameshift 17:76397801-76397801 - Pat_32_A COSM5853573 c.1729C>T p.H577Y Substitution - Missense 17:76398891-76398891 - TCGA-D9-A6EC-06 COSM4402038 c.433C>T p.R145C Substitution - Missense 17:76405557-76405557 - KM12 COSM1680106 c.1705C>T p.R569C Substitution - Missense 17:76398915-76398915 - PT43 COSM5926227 c.1289C>T p.A430V Substitution - Missense 17:76399788-76399788 - TCGA-JW-A852-01 COSM2743383 c.1813G>A p.G605S Substitution - Missense 17:76398555-76398555 - TCGA-AZ-6598-01 COSM1386211 c.1464G>A p.T488T Substitution - coding silent 17:76399613-76399613 - TCGA-EE-A2MR-06 COSM3522547 c.3476C>T p.P1159L Substitution - Missense 17:76391346-76391346 - TCGA-D1-A103-01 COSM398974 c.723C>T p.Y241Y Substitution - coding silent 17:76402091-76402091 - CRC-02T COSM5454611 c.3424A>G p.I1142V Substitution - Missense 17:76391398-76391398 - TCGA-AP-A051-01 COSM984708 c.1125C>T p.C375C Substitution - coding silent 17:76400177-76400177 - RMS1_ COSM4985636 c.2770G>A p.A924T Substitution - Missense 17:76396167-76396167 - Pat_41_B COSM5853568 c.2056G>A p.V686I Substitution - Missense 17:76397858-76397858 - 2492723 COSM5722699 c.2242G>A p.V748M Substitution - Missense 17:76396695-76396695 - TCGA-BR-6452-01 COSM4069875 c.3860A>G p.E1287G Substitution - Missense 17:76390962-76390962 - TCGA-EE-A2MR-06 COSM3522546 c.3476C>T p.P1159L Substitution - Missense 17:76391346-76391346 - PD11352a COSM5794841 c.3546A>G p.Q1182Q Substitution - coding silent 17:76391276-76391276 - Au4 COSM5605254 c.3283G>A p.E1095K Substitution - Missense 17:76391539-76391539 - ICGC_MB16 COSM215715 c.1163G>A p.R388H Substitution - Missense 17:76399914-76399914 - TCGA-B5-A11E-01 COSM984713 c.878G>A p.R293Q Substitution - Missense 17:76401027-76401027 - LNCaP COSM238609 c.3772C>T p.L1258F Substitution - Missense 17:76391050-76391050 - TCGA-CA-6717-01 COSM1386210 c.1573C>T p.R525C Substitution - Missense 17:76399504-76399504 - TCGA-BS-A0UV-01 COSM984711 c.1017C>T p.L339L Substitution - coding silent 17:76400285-76400285 - TCGA-34-5927-01 COSM707144 c.3818T>A p.L1273Q Substitution - Missense 17:76391004-76391004 - CHC789T COSM4953294 c.3050C>T p.P1017L Substitution - Missense 17:76392010-76392010 - CSCC-60-T COSM4452017 c.1539A>T p.K513N Substitution - Missense 17:76399538-76399538 - TCGA-61-1907-01 COSM1324834 c.2899A>G p.T967A Substitution - Missense 17:76395772-76395772 - HRA19 COSM4637768 c.448C>T p.R150* Substitution - Nonsense 17:76405542-76405542 - TCGA-18-3409-01 COSM707142 c.3318C>T p.I1106I Substitution - coding silent 17:76391504-76391504 - TCGA-AZ-6598-01 COSM1386212 c.1464G>A p.T488T Substitution - coding silent 17:76399613-76399613 - Gp5D COSM2743467 c.628C>T p.L210L Substitution - coding silent 17:76402660-76402660 - TCGA-BH-A0W7-01 COSM437439 c.2325G>A p.V775V Substitution - coding silent 17:76396612-76396612 - TCGA-BC-A10T-01 COSM4922961 c.3329A>T p.Q1110L Substitution - Missense 17:76391493-76391493 - PTC-7C COSM4130659 c.3619G>A p.G1207S Substitution - Missense 17:76391203-76391203 - TCGA-EI-6507-01 COSM1563634 c.2778C>T p.G926G Substitution - coding silent 17:76396159-76396159 - 2492716 COSM5719107 c.3361G>T p.E1121* Substitution - Nonsense 17:76391461-76391461 - ESCC_BICR_042T COSM5443703 c.2677G>A p.E893K Substitution - Missense 17:76396260-76396260 - TCGA-06-5858-01 COSM3403235 c.1668C>T p.D556D Substitution - coding silent 17:76398952-76398952 - LUAD-S01405 COSM398974 c.723C>T p.Y241Y Substitution - coding silent 17:76402091-76402091 - TCGA-A8-A079-01 COSM437437 c.3821C>T p.T1274M Substitution - Missense 17:76391001-76391001 - TCGA-AX-A060-01 COSM984663 c.3829C>T p.R1277W Substitution - Missense 17:76390993-76390993 - tumor_4125240 COSM1161209 c.1530G>A p.T510T Substitution - coding silent 17:76399547-76399547 - 2492723 COSM5722698 c.2242G>A p.V748M Substitution - Missense 17:76396695-76396695 - TCGA-FW-A3R5-06 COSM3890491 c.501C>T p.I167I Substitution - coding silent 17:76405293-76405293 - CSCC-15-T COSM4544774 c.3639G>A p.R1213R Substitution - coding silent 17:76391183-76391183 - TCGA-HU-A4G8-01 COSM4069901 c.473C>G p.S158C Substitution - Missense 17:76405517-76405517 - NYU517 COSM984690 c.2520G>A p.P840P Substitution - coding silent 17:76396417-76396417 - sysucc-1370T COSM5470766 c.2991C>T p.Y997Y Substitution - coding silent 17:76392069-76392069 - 61 COSM5741150 c.1463C>T p.T488M Substitution - Missense 17:76399614-76399614 - 2492716 COSM5719106 c.3361G>T p.E1121* Substitution - Nonsense 17:76391461-76391461 - HCA7 COSM4630346 c.2660G>A p.R887H Substitution - Missense 17:76396277-76396277 - TCGA-F5-6814-01 COSM195599 c.2819C>A p.S940Y Substitution - Missense 17:76395852-76395852 - TCGA-EE-A2MR-06 COSM3522556 c.2560C>T p.L854L Substitution - coding silent 17:76396377-76396377 - CHC1704T COSM4804185 c.3840G>T p.L1280L Substitution - coding silent 17:76390982-76390982 - ESCC_127 COSM5641487 c.2422C>G p.P808A Substitution - Missense 17:76396515-76396515 - HCC003T COSM5819644 c.1003A>T p.R335W Substitution - Missense 17:76400442-76400442 - 44 COSM5734196 c.2513_2535del23 p.T838fs*11 Deletion - Frameshift 17:76396402-76396424 - TCGA-B5-A0JY-01 COSM984686 c.2596A>G p.K866E Substitution - Missense 17:76396341-76396341 - TCGA-06-5858-01 COSM3403236 c.1668C>T p.D556D Substitution - coding silent 17:76398952-76398952 - CHC789T COSM4953294 c.3050C>T p.P1017L Substitution - Missense 17:76392010-76392010 - YUKAE COSM5387392 c.639C>G p.V213V Substitution - coding silent 17:76402649-76402649 - TCGA-EB-A41A-01 COSM3522565 c.928A>G p.T310A Substitution - Missense 17:76400517-76400517 - TCGA-LP-A5U2-01 COSM4833735 c.2962C>G p.L988V Substitution - Missense 17:76392098-76392098 - TCGA-Q1-A73R-01 COSM4856063 c.1937C>A p.A646D Substitution - Missense 17:76398343-76398343 - CHC1569T COSM5347713 c.251_253delGCG p.G84delG Deletion - In frame 17:76452889-76452891 - ZZUFHECRKL-G038T COSM5442472 c.2782G>A p.V928I Substitution - Missense 17:76396155-76396155 - TCGA-HU-A4GX-01 COSM4069892 c.1424C>T p.S475L Substitution - Missense 17:76399653-76399653 - ESCC-D7 COSM5046434 c.2888C>T p.A963V Substitution - Missense 17:76395783-76395783 - TCGA-BH-A0W7-01 COSM437440 c.2325G>A p.V775V Substitution - coding silent 17:76396612-76396612 - ACINAR03 COSM1735297 c.578A>G p.Q193R Substitution - Missense 17:76405216-76405216 - PAPNNX COSM5005137 c.679G>A p.G227S Substitution - Missense 17:76402609-76402609 - T3021 COSM984707 c.1125C>T p.C375C Substitution - coding silent 17:76400177-76400177 - HT55 COSM2743301 c.3780A>T p.P1260P Substitution - coding silent 17:76391042-76391042 - Pat_24_A COSM5853570 c.1744_1746delAAC p.N582delN Deletion - In frame 17:76398874-76398876 - TCGA-AO-A1KS-01 COSM1480040 c.549C>T p.I183I Substitution - coding silent 17:76405245-76405245 - TCGA-D3-A5GO-06 COSM3522558 c.2305C>T p.P769S Substitution - Missense 17:76396632-76396632 - TCGA-DJ-A2PU-01 COSM3370922 c.2637G>A p.M879I Substitution - Missense 17:76396300-76396300 - PTC-7C COSM4130661 c.1929C>T p.Y643Y Substitution - coding silent 17:76398351-76398351 - ESO-874 COSM1269631 c.3838C>T p.L1280L Substitution - coding silent 17:76390984-76390984 - TCGA-CG-5721-01 COSM4069883 c.2473A>C p.K825Q Substitution - Missense 17:76396464-76396464 - TCGA-61-2095-01 COSM111619 c.3785_3791delCCAAGGG p.S1262fs*10 Deletion - Frameshift 17:76391031-76391037 - tumor_4125240 COSM1161208 c.1530G>A p.T510T Substitution - coding silent 17:76399547-76399547 - 2492717 COSM5719107 c.3361G>T p.E1121* Substitution - Nonsense 17:76391461-76391461 - TCGA-43-5668-01 COSM707139 c.2819C>T p.S940F Substitution - Missense 17:76395852-76395852 - DLD1 COSM2743395 c.1689C>T p.S563S Substitution - coding silent 17:76398931-76398931 - TCGA-BR-6452-01 COSM4069886 c.1943A>G p.H648R Substitution - Missense 17:76398337-76398337 - SF295 COSM1684532 c.1587_1589delGAA p.K531delK Deletion - In frame 17:76399488-76399490 - 2492722 COSM5722699 c.2242G>A p.V748M Substitution - Missense 17:76396695-76396695 - PT50 COSM5937749 c.1826C>T p.S609F Substitution - Missense 17:76398542-76398542 - CH-50-T2 COSM5650841 c.3263G>A p.R1088Q Substitution - Missense 17:76391559-76391559 - TCGA-AP-A056-01 COSM984690 c.2520G>A p.P840P Substitution - coding silent 17:76396417-76396417 - 2492715 COSM5719107 c.3361G>T p.E1121* Substitution - Nonsense 17:76391461-76391461 - I2L-P10-Tumor-Organoid COSM5363890 c.1123T>G p.C375G Substitution - Missense 17:76400179-76400179 - TCGA-HU-A4H8-01 COSM4069880 c.2608A>G p.N870D Substitution - Missense 17:76396329-76396329 - 19M COSM5579924 c.2355C>T p.V785V Substitution - coding silent 17:76396582-76396582 - LC_S13 COSM1189579 c.20C>A p.P7H Substitution - Missense 17:76453122-76453122 - TCGA-BR-8360-01 COSM4069889 c.1814G>T p.G605V Substitution - Missense 17:76398554-76398554 - 46M COSM5589287 c.2113C>T p.Q705* Substitution - Nonsense 17:76397801-76397801 - TCGA-IH-A3EA-01 COSM3522562 c.1029C>T p.D343D Substitution - coding silent 17:76400273-76400273 - TCGA-B4-5838-01 COSM1494108 c.2415C>T p.D805D Substitution - coding silent 17:76396522-76396522 - CSCC-57-T COSM4565574 c.2256_2257CC>TT p.P753S Substitution - Missense 17:76396680-76396681 - T55 COSM4738704 c.2113delC p.Q705fs*6 Deletion - Frameshift 17:76397801-76397801 - HCC130T COSM1610815 c.1629-10delG p.? Unknown 17:76399001-76399001 - CSCC-55-T COSM4564491 c.1221_1222CC>TT p.R408W Substitution - Missense 17:76399855-76399856 - CSCC-31-T COSM4565942 c.2759_2760CC>TT p.T920I Substitution - Missense 17:76396177-76396178 - CHOL12 COSM1744677 c.2913G>T p.E971D Substitution - Missense 17:76395758-76395758 - 2492719 COSM5719106 c.3361G>T p.E1121* Substitution - Nonsense 17:76391461-76391461 - SF295 COSM1684533 c.1587_1589delGAA p.K531delK Deletion - In frame 17:76399488-76399490 - TCGA-AP-A051-01 COSM984669 c.3609C>T p.G1203G Substitution - coding silent 17:76391213-76391213 - 585210 COSM324156 c.502G>A p.D168N Substitution - Missense 17:76405292-76405292 - 347 COSM3724063 c.762C>T p.F254F Substitution - coding silent 17:76401143-76401143 - CCK81 COSM2743329 c.3240C>T p.N1080N Substitution - coding silent 17:76391582-76391582 - PT32 COSM5907706 c.2255A>T p.H752L Substitution - Missense 17:76396682-76396682 - 1_PRE-TREATMENT COSM1720893 c.2277delC p.I760fs*16 Deletion - Frameshift 17:76396660-76396660 - TCGA-IH-A3EA-01 COSM3522563 c.1029C>T p.D343D Substitution - coding silent 17:76400273-76400273 - YUKAE COSM5387391 c.639C>G p.V213V Substitution - coding silent 17:76402649-76402649 - ESCC-139T COSM3937582 c.1706G>A p.R569H Substitution - Missense 17:76398914-76398914 - PTC-53C COSM4130663 c.1488C>A p.S496S Substitution - coding silent 17:76399589-76399589 - 61 COSM5741148 c.3481G>A p.G1161R Substitution - Missense 17:76391341-76391341 - TCGA-AA-3492-01 COSM1386196 c.3241G>A p.E1081K Substitution - Missense 17:76391581-76391581 - RK195_C01 COSM3742455 c.2857A>G p.K953E Substitution - Missense 17:76395814-76395814 - AOCS-122-1-4 COSM4139845 c.2139G>T p.E713D Substitution - Missense 17:76396798-76396798 - 8012211 COSM3388157 c.3572C>T p.A1191V Substitution - Missense 17:76391250-76391250 - HCA7 COSM1386203 c.3052delC p.H1018fs*12 Deletion - Frameshift 17:76392008-76392008 - DLD1 COSM4623674 c.296C>A p.S99* Substitution - Nonsense 17:76452846-76452846 - 406 COSM4430183 c.2769C>T p.S923S Substitution - coding silent 17:76396168-76396168 - TCGA-CJ-4875-01 COSM3362443 c.633G>A p.G211G Substitution - coding silent 17:76402655-76402655 - NYU517 COSM984689 c.2520G>A p.P840P Substitution - coding silent 17:76396417-76396417 - SWE-52 COSM1180309 c.2546G>T p.R849L Substitution - Missense 17:76396391-76396391 - TCGA-HU-A4GX-01 COSM4069893 c.1424C>T p.S475L Substitution - Missense 17:76399653-76399653 - I2L-P10-Tumor-Organoid COSM5363891 c.1123T>G p.C375G Substitution - Missense 17:76400179-76400179 - TCGA-37-3789-01 COSM707136 c.1911G>T p.E637D Substitution - Missense 17:76398369-76398369 - TCGA-CA-6718-01 COSM1386214 c.1399G>T p.E467* Substitution - Nonsense 17:76399678-76399678 - 2492720 COSM5722698 c.2242G>A p.V748M Substitution - Missense 17:76396695-76396695 - 2492718 COSM5719107 c.3361G>T p.E1121* Substitution - Nonsense 17:76391461-76391461 - ACINAR03 COSM1735295 c.2554_2556delAAG p.K852delK Deletion - In frame 17:76396381-76396383 - 585210 COSM324157 c.502G>A p.D168N Substitution - Missense 17:76405292-76405292 - TCGA-HU-A4GU-01 COSM4069885 c.1975G>A p.V659I Substitution - Missense 17:76398305-76398305 - YUBOO COSM1710833 c.1468G>A p.D490N Substitution - Missense 17:76399609-76399609 - RK195_C01 COSM3742454 c.2857A>G p.K953E Substitution - Missense 17:76395814-76395814 - TCGA-GV-A3JZ-01 COSM1303381 c.1084G>A p.E362K Substitution - Missense 17:76400218-76400218 - pfg123T COSM4757524 c.2738G>A p.C913Y Substitution - Missense 17:76396199-76396199 - KM12 COSM1680105 c.1705C>T p.R569C Substitution - Missense 17:76398915-76398915 - ESCC_51 COSM1303380 c.1084G>A p.E362K Substitution - Missense 17:76400218-76400218 - cSCCP1 COSM135776 c.3164G>A p.W1055* Substitution - Nonsense 17:76391800-76391800 - TCGA-BS-A0UV-01 COSM984695 c.1563G>A p.K521K Substitution - coding silent 17:76399514-76399514 - BD124T COSM5493646 c.1629-5C>T p.? Unknown 17:76398996-76398996 - TCGA-IH-A3EA-01 COSM3522560 c.1295C>T p.P432L Substitution - Missense 17:76399782-76399782 - MO_1221 COSM1386220 c.434G>A p.R145H Substitution - Missense 17:76405556-76405556 - MZ7-mel COSM23454 c.3357C>T p.P1119P Substitution - coding silent 17:76391465-76391465 - 61 COSM5741149 c.3481G>A p.G1161R Substitution - Missense 17:76391341-76391341 - HT55 COSM2743302 c.3780A>T p.P1260P Substitution - coding silent 17:76391042-76391042 - TCGA-ER-A19J-06 COSM3522551 c.2987C>T p.P996L Substitution - Missense 17:76392073-76392073 - TCGA-ER-A19J-06 COSM3522550 c.2987C>T p.P996L Substitution - Missense 17:76392073-76392073 - T3021 COSM984708 c.1125C>T p.C375C Substitution - coding silent 17:76400177-76400177 - Pat_02_B COSM5853567 c.3320G>A p.R1107H Substitution - Missense 17:76391502-76391502 - OSCC-GB_01110111 COSM4884584 c.231G>T p.G77G Substitution - coding silent 17:76452911-76452911 - 587228 COSM1231548 c.2650G>A p.D884N Substitution - Missense 17:76396287-76396287 - TCGA-B4-5838-01 COSM1494107 c.2415C>T p.D805D Substitution - coding silent 17:76396522-76396522 - TCGA-HU-A4GU-01 COSM4069884 c.1975G>A p.V659I Substitution - Missense 17:76398305-76398305 - ACINAR01 COSM1735292 c.3319C>T p.R1107C Substitution - Missense 17:76391503-76391503 - TCGA-37-3789-01 COSM707135 c.1911G>T p.E637D Substitution - Missense 17:76398369-76398369 - H1155 COSM1195289 c.826G>A p.V276I Substitution - Missense 17:76401079-76401079 - PTC_441 COSM5957543 c.3449C>T p.A1150V Substitution - Missense 17:76391373-76391373 - ESCC-248T COSM3937580 c.2736G>C p.Q912H Substitution - Missense 17:76396201-76396201 - TCGA-AP-A059-01 COSM984692 c.2020G>A p.D674N Substitution - Missense 17:76398260-76398260 - Pat_37_B COSM5853565 c.3409C>T p.R1137W Substitution - Missense 17:76391413-76391413 - H1155 COSM1195288 c.826G>A p.V276I Substitution - Missense 17:76401079-76401079 - TCGA-BP-5169-01 COSM473410 c.2220C>T p.S740S Substitution - coding silent 17:76396717-76396717 - ESCC_51 COSM1303381 c.1084G>A p.E362K Substitution - Missense 17:76400218-76400218 - TCGA-AP-A059-01 COSM984677 c.3096C>T p.N1032N Substitution - coding silent 17:76391964-76391964 - 345973 COSM3726699 c.1281G>A p.A427A Substitution - coding silent 17:76399796-76399796 - pfg212T COSM4757525 c.1223G>A p.R408Q Substitution - Missense 17:76399854-76399854 - CHC1569T COSM4791316 c.249C>G p.H83Q Substitution - Missense 17:76452893-76452893 - ACINAR01 COSM1735293 c.3319C>T p.R1107C Substitution - Missense 17:76391503-76391503 - SWE-11 COSM1178815 c.2102T>G p.I701S Substitution - Missense 17:76397812-76397812 - TCGA-AP-A054-01 COSM984701 c.1296T>C p.P432P Substitution - coding silent 17:76399781-76399781 - YUOTHO COSM5387390 c.2845C>T p.P949S Substitution - Missense 17:76395826-76395826 - TCGA-D3-A5GO-06 COSM3522559 c.2305C>T p.P769S Substitution - Missense 17:76396632-76396632 - HCT15 COSM2743456 c.825C>T p.S275S Substitution - coding silent 17:76401080-76401080 - T3091 COSM4614813 c.3052_3053insC p.H1018fs*18 Insertion - Frameshift 17:76392007-76392008 - SNU-175 COSM2743384 c.1813G>A p.G605S Substitution - Missense 17:76398555-76398555 - TCGA-AP-A051-01 COSM984707 c.1125C>T p.C375C Substitution - coding silent 17:76400177-76400177 - PD4266a COSM5795861 c.858C>T p.L286L Substitution - coding silent 17:76401047-76401047 - GC8_T COSM148350 c.1767C>T p.F589F Substitution - coding silent 17:76398853-76398853 - PD11462a COSM5801685 c.1174_1176delAAG p.K392delK Deletion - In frame 17:76399901-76399903 - TCGA-DK-A1A3-01 COSM417976 c.3621C>T p.G1207G Substitution - coding silent 17:76391201-76391201 - TCGA-HU-A4H3-01 COSM4069895 c.1415G>T p.R472M Substitution - Missense 17:76399662-76399662 - TCGA-BR-6452-01 COSM4069874 c.3860A>G p.E1287G Substitution - Missense 17:76390962-76390962 - MO_1221 COSM1386219 c.434G>A p.R145H Substitution - Missense 17:76405556-76405556 - T3182 COSM4738694 c.3808C>T p.R1270W Substitution - Missense 17:76391014-76391014 - TCGA-BP-5169-01 COSM473409 c.2220C>T p.S740S Substitution - coding silent 17:76396717-76396717 - CSCC-16-T COSM4516258 c.1737_1738GG>AC p.D580H Substitution - Missense 17:76398882-76398883 - TCGA-EE-A3AH-06 COSM3522554 c.2789C>T p.S930F Substitution - Missense 17:76396148-76396148 - PAPNNX COSM5005138 c.679G>A p.G227S Substitution - Missense 17:76402609-76402609 - YUROG COSM5387387 c.3754C>A p.P1252T Substitution - Missense 17:76391068-76391068 - BN06T COSM1610812 c.3316delA p.I1106fs*7 Deletion - Frameshift 17:76391506-76391506 - TCGA-EJ-7331-01 COSM1470950 c.966C>T p.S322S Substitution - coding silent 17:76400479-76400479 - Pat_59_B COSM5853562 c.3857C>T p.P1286L Substitution - Missense 17:76390965-76390965 - S00472 COSM5657746 c.2948A>G p.D983G Substitution - Missense 17:76392112-76392112 - Pat_32_B COSM5853572 c.1729C>T p.H577Y Substitution - Missense 17:76398891-76398891 - TCGA-JW-A5VL-01 COSM4846576 c.2236G>A p.G746R Substitution - Missense 17:76396701-76396701 - CHC1545T COSM4787565 c.3555T>A p.P1185P Substitution - coding silent 17:76391267-76391267 - TCGA-CJ-4875-01 COSM3362442 c.633G>A p.G211G Substitution - coding silent 17:76402655-76402655 - PD13765a COSM5770692 c.3822G>A p.T1274T Substitution - coding silent 17:76391000-76391000 - TCGA-D1-A167-01 COSM984684 c.2664G>T p.K888N Substitution - Missense 17:76396273-76396273 - ESCC_9 COSM5623618 c.2336A>T p.E779V Substitution - Missense 17:76396601-76396601 - Gp5D COSM2743466 c.628C>T p.L210L Substitution - coding silent 17:76402660-76402660 - 587336 COSM1231552 c.2674C>T p.P892S Substitution - Missense 17:76396263-76396263 - TCGA-61-2095-01 COSM118711 c.3774C>G p.L1258L Substitution - coding silent 17:76391048-76391048 - TCGA-B5-A11Y-01 COSM984699 c.1549C>A p.P517T Substitution - Missense 17:76399528-76399528 - CHC1545T COSM4787565 c.3555T>A p.P1185P Substitution - coding silent 17:76391267-76391267 - T3118 COSM4738700 c.2328C>T p.I776I Substitution - coding silent 17:76396609-76396609 - SC_9100 COSM5554494 c.3541G>A p.G1181S Substitution - Missense 17:76391281-76391281 - Pat_63_A COSM2743327 c.3311C>T p.A1104V Substitution - Missense 17:76391511-76391511 - TCGA-BR-4362-01 COSM4069896 c.1220C>G p.S407C Substitution - Missense 17:76399857-76399857 - TCGA-BC-A10T-01 COSM4922960 c.3329A>T p.Q1110L Substitution - Missense 17:76391493-76391493 - TCGA-43-5668-01 COSM707140 c.2819C>T p.S940F Substitution - Missense 17:76395852-76395852 - CHC789T COSM4953295 c.3050C>T p.P1017L Substitution - Missense 17:76392010-76392010 - TCGA-FS-A1ZP-06 COSM3522567 c.749C>T p.S250L Substitution - Missense 17:76402065-76402065 - TCGA-HU-A4G8-01 COSM4069900 c.473C>G p.S158C Substitution - Missense 17:76405517-76405517 - TCGA-AP-A054-01 COSM984702 c.1296T>C p.P432P Substitution - coding silent 17:76399781-76399781 - TCGA-B5-A11E-01 COSM984665 c.3709C>T p.R1237W Substitution - Missense 17:76391113-76391113 - T578 COSM4738698 c.2615C>T p.A872V Substitution - Missense 17:76396322-76396322 - 48 COSM1269628 c.961G>A p.V321I Substitution - Missense 17:76400484-76400484 - TCGA-AP-A059-01 COSM984678 c.3096C>T p.N1032N Substitution - coding silent 17:76391964-76391964 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.16130 17q25.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.V548G c.1643T>G 17 74395058 THCA A G Missense p.I714T c.2141T>C 17 74392877 HNSC A G Missense p.V642A c.1925T>C 17 74394436 CM A G Synonymous p.P432P c.1296T>C 17 74395862 UCEC A T Missense p.L1273Q c.3818T>A 17 74387085 LUSC C A Missense p.A783S c.2347G>T 17 74392671 LUAD C A Missense p.E637D c.1911G>T 17 74394450 LUSC C A Missense p.G106V c.317G>T 17 74448907 LUSC C A Missense p.G797W c.2389G>T 17 74392629 PRAD C A Nonsense p.E880* c.2638G>T 17 74392380 HNSC C A Synonymous p.L624L c.1872G>T 17 74394577 LUSC CCCTTGG - Frameshift p.S1262Ffs*10 c.3785_3791delCCAAGGG 17 74387112 OV - C Frameshift p.P1119Afs*6 c.3354dupG 17 74387549 RCCC C G Missense p.K1038N c.3114G>C 17 74388027 HNSC C T Missense p.A695T c.2083G>A 17 74393912 STAD C T Missense p.D168N c.502G>A 17 74401373 SCLC C T Missense p.D215N c.643G>A 17 74398726 LUAD C T Missense p.E362K c.1084G>A 17 74396299 BLCA C T Missense p.E666K c.1996G>A 17 74394365 CM C T Missense p.M558I c.1674G>A 17 74395027 LUAD C T Missense p.M879I c.2637G>A 17 74392381 THCA C T Missense p.R388H c.1163G>A 17 74395995 MB C T Missense p.V285M c.853G>A 17 74397133 COREAD C T Missense p.V321I c.961G>A 17 74396565 ESCA C T Synonymous p.G211G c.633G>A 17 74398736 RCCC C T Synonymous p.T318T c.954G>A 17 74396572 STAD C T Synonymous p.V775V c.2325G>A 17 74392693 BRCA G A Missense p.L1001F c.3001C>T 17 74388140 CM G A Missense p.P1185S c.3553C>T 17 74387350 CM G A Missense p.P1252S c.3754C>T 17 74387149 CM G A Missense p.P432L c.1295C>T 17 74395863 CM G A Missense p.P575L c.1724C>T 17 74394977 LUAD G A Missense p.P996L c.2987C>T 17 74388154 CM G A Missense p.R1277W c.3829C>T 17 74387074 UCEC G A Missense p.S1067F c.3200C>T 17 74387845 CM G A Missense p.S1168L c.3503C>T 17 74387400 UCEC G A Missense p.S250L c.749C>T 17 74398146 CM G A Missense p.S503F c.1508C>T 17 74395650 CM G A Missense p.S504F c.1511C>T 17 74395647 CM G A Missense p.S930F c.2789C>T 17 74392229 CM G A Missense p.S940F c.2819C>T 17 74391933 LUSC G A Missense p.T1222I c.3665C>T 17 74387238 CM G A Missense p.T1274M c.3821C>T 17 74387082 BRCA G A Missense p.T495I c.1484C>T 17 74395674 CM G A Nonsense p.Q1182* c.3544C>T 17 74387359 CM G A Synonymous p.A951A c.2853C>T 17 74391899 CM G A Synonymous p.D343D c.1029C>T 17 74396354 CM G A Synonymous p.F1084F c.3252C>T 17 74387651 BLCA G A Synonymous p.G1207G c.3621C>T 17 74387282 BLCA G A Synonymous p.G237G c.711C>T 17 74398184 THCA G A Synonymous p.I1011I c.3033C>T 17 74388108 BLCA G A Synonymous p.I183I c.549C>T 17 74401326 BRCA G A Synonymous p.L1280L c.3838C>T 17 74387065 ESCA G A Synonymous p.S322S c.966C>T 17 74396560 PRAD G A Synonymous p.S740S c.2220C>T 17 74392798 RCCC G C Missense p.A440G c.1319C>G 17 74395839 CM G C Missense p.P840A c.2518C>G 17 74392500 LUAD G C Synonymous p.L1258L c.3774C>G 17 74387129 OV G T Missense p.P517T c.1549C>A 17 74395609 UCEC G T Missense p.P575H c.1724C>A 17 74394977 LUAD G T Missense p.R654S c.1960C>A 17 74394401 STAD G T Synonymous p.I820I c.2460C>A 17 74392558 RCCC - TT Frameshift p.E901Kfs*130 c.2700_2701insAA 17 74392317 STAD